Resource

Id:	hg38/scores/ClinVar_20251019
Type:	allele_score
Version:	0
Summary:
Description:
Labels:	reference_genome: hg38/genomes/GRCh38-hg38

Scores

ID	Type	Default annotation	Description	Histogram	Range
AF_ESP	float	-	allele frequencies from GO-ESP		[8e-05, 1]
AF_EXAC	float	-	allele frequencies from ExAC		[0, 1]
AF_TGP	float	-	allele frequencies from TGP		[0, 1]
ALLELEID	int	-	ClinVar Allele ID		[1.5e+04, 4.39e+06]
CLNDN	str	CLNDN	ClinVar's preferred disease name for the concept specified by disease identifiers in CLNDISDB		not_specified, not_provided, Inborn_genetic_diseases, Hereditary_cancer-predisposing_syndrome, Cardiovascular_phenotype, Inborn_genetic_diseases\|not_provided, not_provided\|Inborn_genetic_diseases, not_specified\|not_provided, Primary_ciliary_dyskinesia, not_provided\|not_specified, Other
CLNDNINCL	str	-	For included Variant : ClinVar's preferred disease name for the concept specified by disease identifiers in CLNDISDB		not_specified, Vancomycin_response, Leber_congenital_amaurosis, Anemia\|_nonspherocytic_hemolytic\|_due_to_G6PD_deficiency, Cystic_fibrosis, Citalopram_response\|Escitalopram_response\|Sertraline_response\|Voriconazole_response, not_provided, Abnormality_of_neuronal_migration, Acyl-CoA_dehydrogenase_9_deficiency, Classic_congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency, Severe_early-childhood-onset_retinal_dystrophy, Vici_syndrome, Hypercholesterolemia\|_familial\|_1, Opsismodysplasia, Alpha-1-antitrypsin_deficiency, Autosomal_recessive_nonsyndromic_hearing_loss_3, Breast-ovarian_cancer\|_familial\|_susceptibility_to\|_1, Reclassified_-_variant_of_unknown_significance, Fabry_disease, Severe_combined_immunodeficiency\|_autosomal_recessive\|_T_cell-negative\|_B_cell-negative\|_NK_cell-positive, Other
CLNDISDB	str	-	Tag-value pairs of disease database name and identifier submitted for germline classifications, e.g. OMIM:NNNNNN"		MedGen:CN169374, MedGen:C3661900, MeSH:D030342\|MedGen:C0950123, ., MONDO:MONDO:0015356\|MeSH:D009386\|MedGen:C0027672\|Orphanet:140162, MedGen:CN230736, MeSH:D030342\|MedGen:C0950123\|MedGen:C3661900, MedGen:C3661900\|MeSH:D030342\|MedGen:C0950123, MedGen:CN169374\|MedGen:C3661900, Human_Phenotype_Ontology:HP:0012265\|MONDO:MONDO:0016575\|MedGen:C0008780\|OMIM:PS244400\|Orphanet:244, MedGen:C3661900\|MedGen:CN169374, .\|MedGen:C3661900, MedGen:C3661900\|., MedGen:CN517202, MONDO:MONDO:0100620\|MedGen:C5779964, MONDO:MONDO:0019391\|MeSH:D005199\|MedGen:C0015625\|OMIM:PS227650\|Orphanet:84, MONDO:MONDO:0009725\|MedGen:C1850569\|OMIM:256030, Human_Phenotype_Ontology:HP:0001258\|Human_Phenotype_Ontology:HP:0007062\|Human_Phenotype_Ontology:HP:0007124\|Human_Phenotype_Ontology:HP:0007216\|MedGen:C0037772, MONDO:MONDO:0019625\|MedGen:C4707243\|OMIM:PS607086\|Orphanet:91387, MONDO:MONDO:0018975\|MedGen:C0027831\|OMIM:162200\|Orphanet:636, Other
CLNDISDBINCL	str	-	For included Variant: Tag-value pairs of disease database name and identifier for germline classifications, e.g. OMIM:NNNNNN		., MedGen:CN169374, MedGen:CN297638, MONDO:MONDO:0018998\|MeSH:D057130\|MedGen:C0339527\|OMIM:PS204000\|Orphanet:65, MONDO:MONDO:0010480\|MedGen:C2720289\|OMIM:300908\|Orphanet:466026, MONDO:MONDO:0009061\|MedGen:C0010674\|OMIM:219700\|Orphanet:586, MedGen:CN221263\|MedGen:CN221264\|MedGen:CN221265\|MedGen:CN077957, MedGen:C3661900, Human_Phenotype_Ontology:HP:0002269\|Human_Phenotype_Ontology:HP:0007317\|MedGen:C1837249, MONDO:MONDO:0012624\|MedGen:C4747517\|OMIM:611126\|Orphanet:99901, MONDO:MONDO:0008728\|MedGen:C2936858\|OMIM:201910\|Orphanet:90794, MONDO:MONDO:0009549\|MeSH:D000080362\|MedGen:C1855465\|OMIM:248200\|Orphanet:364055\|Orphanet:827, MONDO:MONDO:0009452\|MedGen:C1855772\|OMIM:242840\|Orphanet:1493, .\|., .\|MedGen:CN221263\|MedGen:CN221264\|MedGen:CN221265\|MedGen:CN077957, MONDO:MONDO:0007750\|MedGen:C0745103\|OMIM:143890\|Orphanet:391665, MONDO:MONDO:0009785\|MedGen:C0432219\|OMIM:258480\|Orphanet:2746, MONDO:MONDO:0013282\|MedGen:C0221757\|OMIM:613490\|Orphanet:60, MONDO:MONDO:0010860\|MedGen:C1838263\|OMIM:600316\|Orphanet:90636, MONDO:MONDO:0011450\|MedGen:C2676676\|OMIM:604370\|Orphanet:145, Other
CLNREVSTAT	str	-	ClinVar review status of germline classification for the Variation ID		criteria_provided\|_single_submitter, criteria_provided\|_multiple_submitters\|_no_conflicts, criteria_provided\|_conflicting_classifications, no_assertion_criteria_provided, reviewed_by_expert_panel, no_classification_provided, no_classification_for_the_single_variant, no_classifications_from_unflagged_records, practice_guideline
CLNSIG	str	CLNSIG	Aggregate germline classification for this single variant; multiple values are separated by a vertical bar		Uncertain_significance, Likely_benign, Benign, Pathogenic, Conflicting_classifications_of_pathogenicity, Likely_pathogenic, Benign/Likely_benign, Pathogenic/Likely_pathogenic, not_provided, drug_response, other, no_classification_for_the_single_variant, risk_factor, association, no_classifications_from_unflagged_records, Uncertain_significance/Uncertain_risk_allele, Affects, Likely_risk_allele, Pathogenic\|other, Likely_pathogenic\|_low_penetrance, Other
CLNSIGCONF	str	-	Conflicting germline classification for this single variant; multiple values are separated by a vertical bar		Uncertain_significance(1)\|Likely_benign(1), Uncertain_significance(2)\|Likely_benign(1), Uncertain_significance(1)\|Likely_benign(2), Likely_pathogenic(1)\|Uncertain_significance(1), Uncertain_significance(1)\|Benign(1), Uncertain_significance(3)\|Likely_benign(1), Uncertain_significance(4)\|Likely_benign(1), Pathogenic(1)\|Uncertain_significance(1), Uncertain_significance(2)\|Likely_benign(2), Uncertain_significance(1)\|Benign(1)\|Likely_benign(1), Uncertain_significance(1)\|Likely_benign(3), Uncertain_significance(2)\|Benign(1), Likely_pathogenic(1)\|Uncertain_significance(2), Uncertain_significance(5)\|Likely_benign(1), Uncertain_significance(3)\|Likely_benign(2), Uncertain_significance(1)\|Benign(1)\|Likely_benign(2), Likely_pathogenic(2)\|Uncertain_significance(1), Uncertain_significance(6)\|Likely_benign(1), Uncertain_significance(3)\|Benign(1), Pathogenic(1)\|Likely_pathogenic(1)\|Uncertain_significance(1), Other
CLNSIGINCL	str	-	Germline classification for a haplotype or genotype that includes this variant. Reported as pairs of VariationID:classification; multiple values are separated by a vertical bar		1723892:drug_response, 14353:Uncertain_significance, 5345:Benign, 440728:risk_factor, 869112:association, 1184302:Uncertain_significance, 1022:risk_factor, 17709:Benign, 36924:Pathogenic, 29691:risk_factor, 4075782:Pathogenic, 12182:Pathogenic, 13542:risk_factor, 17736:Affects\|2573152:Benign\|2573153:Benign\|2573154:Benign, 438264:Pathogenic, 1722723:Likely_pathogenic, 202166:not_provided, 12304:Pathogenic, 14182:Pathogenic, 14180:Pathogenic, Other
CLNVC	str	-	Variant type		single_nucleotide_variant, Deletion, Duplication, Microsatellite, Indel, Insertion, Inversion, Variation
CLNVCSO	str	-	Sequence Ontology id for variant type		SO:0001483, SO:0000159, SO:1000035, SO:0000289, SO:1000032, SO:0000667, SO:1000036, SO:0001059
CLNVI	str	-	the variant's clinical sources reported as tag-value pairs of database and variant identifier		OMIM:154270.0001, Genetic_Testing_Registry_(GTR):GTR000569522\|Genetic_Testing_Registry_(GTR):GTR000613418, OMIM:111700.0002, OMIM:131230.0001, OMIM:610665.0001, OMIM:605634.0002, OMIM:152200.0002, OMIM:611409.0013, OMIM:601146.0012, OMIM:611082.0001, OMIM:608515.0002, OMIM:102610.0015, OMIM:605556.0005, OMIM:146929.0001, OMIM:604083.0004, OMIM:601470.0001, OMIM:191328.0003, OMIM:607607.0003, OMIM:603716.0006, OMIM:614461.0002, Other
GENEINFO	str	-	Gene(s) for the variant reported as gene symbol:gene id. The gene symbol and id are delimited by a colon (:) and each pair is delimited by a vertical bar (\|)		BRCA2:675, TTN:7273\|TTN-AS1:100506866, APC:324, NF1:4763, TTN:7273, BRCA1:672, TSC2:7249, ATM:472, POLE:5426, MSH6:2956, RYR1:6261, NEB:4703, DMD:1756, RYR2:6262, FBN1:2200, MSH2:4436, USH2A:7399, DICER1:23405, ATM:472\|C11orf65:160140, ADGRV1:84059, Other
MC	str	-	comma separated list of molecular consequence in the form of Sequence Ontology ID\|molecular_consequence		SO:0001583\|missense_variant, SO:0001819\|synonymous_variant, SO:0001627\|intron_variant, SO:0001583\|missense_variant\|SO:0001619\|non-coding_transcript_variant, SO:0001583\|missense_variant\|SO:0001627\|intron_variant, SO:0001589\|frameshift_variant, SO:0001619\|non-coding_transcript_variant\|SO:0001819\|synonymous_variant, SO:0001587\|nonsense, SO:0001624\|3_prime_UTR_variant, SO:0001627\|intron_variant\|SO:0001819\|synonymous_variant, SO:0001583\|missense_variant\|SO:0001623\|5_prime_UTR_variant, SO:0001583\|missense_variant\|SO:0001619\|non-coding_transcript_variant\|SO:0001627\|intron_variant, SO:0001575\|splice_donor_variant, SO:0001574\|splice_acceptor_variant, SO:0001583\|missense_variant\|SO:0001624\|3_prime_UTR_variant, SO:0001583\|missense_variant\|SO:0001619\|non-coding_transcript_variant\|SO:0001623\|5_prime_UTR_variant, SO:0001589\|frameshift_variant\|SO:0001619\|non-coding_transcript_variant, SO:0001623\|5_prime_UTR_variant\|SO:0001819\|synonymous_variant, SO:0001822\|inframe_deletion, SO:0001623\|5_prime_UTR_variant, Other
ONCDN	str	-	ClinVar's preferred disease name for the concept specified by disease identifiers in ONCDISDB		Neoplasm, Meningioma, Gastrointestinal_stromal_tumor, Adenoid_cystic_carcinoma, Neuroendocrine_pancreatic_tumor, Adrenal_cortex_carcinoma, Acute_myeloid_leukemia, Pineoblastoma, Colorectal_cancer, Chronic_myelogenous_leukemia\|_BCR-ABL1_positive, Pancreatic_ductal_adenocarcinoma, Glioblastoma_multiforme\|_somatic, Cavernous_sinus_meningioma, Neoplasm\|Colorectal_cancer, Squamous_cell_carcinoma_of_the_head_and_neck, Neoplasm\|Meningioma, Oligodendroglioma, Chordoma, Neoplasm\|Nodal_T-follicular_helper_cell_lymphoma, Malignant_neoplastic_disease, Other
ONCREVSTAT	str	-	ClinVar review status of oncogenicity classification for the Variation ID		criteria_provided\|_single_submitter, no_classification_for_the_single_variant, no_assertion_criteria_provided, criteria_provided\|_multiple_submitters\|_no_conflicts
ONCDISDB	str	-	Tag-value pairs of disease database name and identifier submitted for oncogenicity classifications, e.g. MedGen:NNNNNN		Human_Phenotype_Ontology:HP:0002664\|Human_Phenotype_Ontology:HP:0003008\|Human_Phenotype_Ontology:HP:0006741\|MONDO:MONDO:0005070\|MeSH:D009369\|MedGen:C0027651, Human_Phenotype_Ontology:HP:0002858\|Human_Phenotype_Ontology:HP:0006754\|MONDO:MONDO:0016642\|MedGen:C0025286\|Orphanet:2495, Human_Phenotype_Ontology:HP:0100723\|MONDO:MONDO:0011719\|MeSH:D046152\|MedGen:C0238198\|OMIM:606764\|Orphanet:44890, MONDO:MONDO:0004971\|MeSH:D003528\|MedGen:C0010606, MONDO:MONDO:0019954\|MedGen:C1337011\|Orphanet:97253, Human_Phenotype_Ontology:HP:0002889\|Human_Phenotype_Ontology:HP:0006744\|Human_Phenotype_Ontology:HP:0006759\|MONDO:MONDO:0006639\|MeSH:D018268\|MedGen:C0206686\|Orphanet:1501, Human_Phenotype_Ontology:HP:0001914\|Human_Phenotype_Ontology:HP:0004808\|Human_Phenotype_Ontology:HP:0004843\|Human_Phenotype_Ontology:HP:0005516\|Human_Phenotype_Ontology:HP:0006724\|Human_Phenotype_Ontology:HP:0006728\|MONDO:MONDO:0018874\|MeSH:D015470\|MedGen:C0023467\|OMIM:601626\|Orphanet:519, Human_Phenotype_Ontology:HP:0030408\|Human_Phenotype_Ontology:HP:0040193\|MONDO:MONDO:0016722\|MedGen:C0205898\|Orphanet:251909, MONDO:MONDO:0005575\|MedGen:C0346629\|OMIM:114500, Human_Phenotype_Ontology:HP:0005506\|Human_Phenotype_Ontology:HP:0005544\|MONDO:MONDO:0011996\|MeSH:D015464\|MedGen:C0279543\|OMIM:608232\|Orphanet:521, MONDO:MONDO:0005184\|MedGen:C1335302, MedGen:C4016231, MONDO:MONDO:0002996\|MedGen:C1332865, Human_Phenotype_Ontology:HP:0002664\|Human_Phenotype_Ontology:HP:0003008\|Human_Phenotype_Ontology:HP:0006741\|MONDO:MONDO:0005070\|MeSH:D009369\|MedGen:C0027651\|MONDO:MONDO:0005575\|MedGen:C0346629\|OMIM:114500, MONDO:MONDO:0010150\|MeSH:D000077195\|MedGen:C1168401\|OMIM:275355\|Orphanet:67037, Human_Phenotype_Ontology:HP:0002664\|Human_Phenotype_Ontology:HP:0003008\|Human_Phenotype_Ontology:HP:0006741\|MONDO:MONDO:0005070\|MeSH:D009369\|MedGen:C0027651\|Human_Phenotype_Ontology:HP:0002858\|Human_Phenotype_Ontology:HP:0006754\|MONDO:MONDO:0016642\|MedGen:C0025286\|Orphanet:2495, Human_Phenotype_Ontology:HP:0033681\|MONDO:MONDO:0016695\|MeSH:D009837\|MedGen:C0028945\|Orphanet:251627, Human_Phenotype_Ontology:HP:0010762\|MONDO:MONDO:0008978\|MedGen:C0008487\|Orphanet:178, Human_Phenotype_Ontology:HP:0002664\|Human_Phenotype_Ontology:HP:0003008\|Human_Phenotype_Ontology:HP:0006741\|MONDO:MONDO:0005070\|MeSH:D009369\|MedGen:C0027651\|., MONDO:MONDO:0004992\|MedGen:C0006826, Other
ONC	str	-	Aggregate oncogenicity classification for this single variant; multiple values are separated by a vertical bar		no_classification_for_the_single_variant, Likely_oncogenic, Uncertain_significance, Oncogenic, Likely_benign, Benign
ORIGIN	str	-	Allele origin		1, 0, 32, 5, 33, 2, 4, 17, 16, 9, 3, 8, 65, 64, 21, 25, 13, 49, 37, 35, Other
RS	str	-	Gene(s) for the variant reported as gene symbol:gene id. The gene symbol and id are delimited by a colon (:) and each pair is delimited by a vertical bar (\|)	No histogram: Histogram is not available for this score.	NO DOMAIN
SCIDN	str	-	ClinVar's preferred disease name for the concept specified by disease identifiers in SCIDISDB		Chronic_myelogenous_leukemia\|_BCR-ABL1_positive, Acute_myeloid_leukemia, Familial_papillary_thyroid_carcinoma_with_renal_papillary_neoplasia, Primary_intracranial_sarcoma\|_DICER1-mutant, Diffuse_midline_glioma\|_H3_K27M-mutant, Non-small_cell_lung_carcinoma, Melanoma\|Spindle_cell_sarcoma\|Embryonal_rhabdomyosarcoma\|Epithelioid_Glioblastoma\|Colorectal_cancer, Blast_phase_chronic_myelogenous_leukemia\|_BCR-ABL1_positive, Basal_cell_carcinoma, Benign_cystic_nephroma, Neurofibroma, Acute_myeloid_leukemia\|Essential_thrombocythemia
SCIDISDB	str	-	Tag-value pairs of disease database name and identifier submitted for somatic clinial impact classifications, e.g. MedGen:NNNNNN		Human_Phenotype_Ontology:HP:0005506\|Human_Phenotype_Ontology:HP:0005544\|MONDO:MONDO:0011996\|MeSH:D015464\|MedGen:C0279543\|OMIM:608232\|Orphanet:521, Human_Phenotype_Ontology:HP:0001914\|Human_Phenotype_Ontology:HP:0004808\|Human_Phenotype_Ontology:HP:0004843\|Human_Phenotype_Ontology:HP:0005516\|Human_Phenotype_Ontology:HP:0006724\|Human_Phenotype_Ontology:HP:0006728\|MONDO:MONDO:0018874\|MeSH:D015470\|MedGen:C0023467\|OMIM:601626\|Orphanet:519, MONDO:MONDO:0011578\|MedGen:C1854104\|OMIM:605642\|Orphanet:97290, MONDO:MONDO:0858967\|MedGen:C5670660, MONDO:MONDO:0957196\|MedGen:C4289688, Human_Phenotype_Ontology:HP:0030358\|MONDO:MONDO:0005233\|MeSH:D002289\|MedGen:C0007131, Human_Phenotype_Ontology:HP:0002861\|Human_Phenotype_Ontology:HP:0002887\|Human_Phenotype_Ontology:HP:0006777\|Human_Phenotype_Ontology:HP:0007474\|MONDO:MONDO:0005105\|MeSH:D008545\|MedGen:C0025202\|MONDO:MONDO:0002927\|MedGen:C0205945\|Human_Phenotype_Ontology:HP:0006743\|MONDO:MONDO:0009993\|MedGen:C0206656\|Orphanet:99757\|.\|MONDO:MONDO:0005575\|MedGen:C0346629\|OMIM:114500, MONDO:MONDO:0006115\|MedGen:C0005699, MONDO:MONDO:0020804\|MeSH:D002280\|MedGen:C0007117, Human_Phenotype_Ontology:HP:0034836\|MONDO:MONDO:0002385\|MedGen:C1266138, Human_Phenotype_Ontology:HP:0001067\|Human_Phenotype_Ontology:HP:0006746\|Human_Phenotype_Ontology:HP:0007386\|Human_Phenotype_Ontology:HP:0007612\|MONDO:MONDO:0016755\|MeSH:D009455\|MedGen:C0027830\|Orphanet:252183, Human_Phenotype_Ontology:HP:0001914\|Human_Phenotype_Ontology:HP:0004808\|Human_Phenotype_Ontology:HP:0004843\|Human_Phenotype_Ontology:HP:0005516\|Human_Phenotype_Ontology:HP:0006724\|Human_Phenotype_Ontology:HP:0006728\|MONDO:MONDO:0018874\|MeSH:D015470\|MedGen:C0023467\|OMIM:601626\|Orphanet:519\|MONDO:MONDO:0005029\|MeSH:D013920\|MedGen:C0040028\|Orphanet:3318
SCI	str	-	Aggregate somatic clinical impact for this single variant; multiple values are separated by a vertical bar		no_classification_for_the_single_variant, Tier_III_-_Unknown, Tier_I_-_Strong, Tier_IV_-_Benign/Likely_benign, Tier_II_-_Potential
SCIREVSTAT	str	-	ClinVar review status of somatic clinical impact for the Variation ID		no_classification_for_the_single_variant, no_assertion_criteria_provided, criteria_provided\|_single_submitter, criteria_provided\|_multiple_submitters

Type

Default annotation

Description

Histogram

Range

AF_ESP

float

allele frequencies from GO-ESP

[8e-05, 1]

AF_EXAC

float

allele frequencies from ExAC

[0, 1]

AF_TGP

float

allele frequencies from TGP

[0, 1]

ALLELEID

int

ClinVar Allele ID

[1.5e+04, 4.39e+06]

CLNDN

str

CLNDN

ClinVar's preferred disease name for the concept specified by disease identifiers in CLNDISDB

not_specified, not_provided, Inborn_genetic_diseases, Hereditary_cancer-predisposing_syndrome, Cardiovascular_phenotype, Inborn_genetic_diseases|not_provided, not_provided|Inborn_genetic_diseases, not_specified|not_provided, Primary_ciliary_dyskinesia, not_provided|not_specified, Other

CLNDNINCL

str

For included Variant : ClinVar's preferred disease name for the concept specified by disease identifiers in CLNDISDB

not_specified, Vancomycin_response, Leber_congenital_amaurosis, Anemia|_nonspherocytic_hemolytic|_due_to_G6PD_deficiency, Cystic_fibrosis, Citalopram_response|Escitalopram_response|Sertraline_response|Voriconazole_response, not_provided, Abnormality_of_neuronal_migration, Acyl-CoA_dehydrogenase_9_deficiency, Classic_congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency, Severe_early-childhood-onset_retinal_dystrophy, Vici_syndrome, Hypercholesterolemia|_familial|_1, Opsismodysplasia, Alpha-1-antitrypsin_deficiency, Autosomal_recessive_nonsyndromic_hearing_loss_3, Breast-ovarian_cancer|_familial|_susceptibility_to|_1, Reclassified_-_variant_of_unknown_significance, Fabry_disease, Severe_combined_immunodeficiency|_autosomal_recessive|_T_cell-negative|_B_cell-negative|_NK_cell-positive, Other

CLNDISDB

str

Tag-value pairs of disease database name and identifier submitted for germline classifications, e.g. OMIM:NNNNNN"

CLNDISDBINCL

str

For included Variant: Tag-value pairs of disease database name and identifier for germline classifications, e.g. OMIM:NNNNNN

CLNREVSTAT

str

ClinVar review status of germline classification for the Variation ID

criteria_provided|_single_submitter, criteria_provided|_multiple_submitters|_no_conflicts, criteria_provided|_conflicting_classifications, no_assertion_criteria_provided, reviewed_by_expert_panel, no_classification_provided, no_classification_for_the_single_variant, no_classifications_from_unflagged_records, practice_guideline

CLNSIG

str

CLNSIG

Aggregate germline classification for this single variant; multiple values are separated by a vertical bar

Uncertain_significance, Likely_benign, Benign, Pathogenic, Conflicting_classifications_of_pathogenicity, Likely_pathogenic, Benign/Likely_benign, Pathogenic/Likely_pathogenic, not_provided, drug_response, other, no_classification_for_the_single_variant, risk_factor, association, no_classifications_from_unflagged_records, Uncertain_significance/Uncertain_risk_allele, Affects, Likely_risk_allele, Pathogenic|other, Likely_pathogenic|_low_penetrance, Other

CLNSIGCONF

str

Conflicting germline classification for this single variant; multiple values are separated by a vertical bar

CLNSIGINCL

str

Germline classification for a haplotype or genotype that includes this variant. Reported as pairs of VariationID:classification; multiple values are separated by a vertical bar

1723892:drug_response, 14353:Uncertain_significance, 5345:Benign, 440728:risk_factor, 869112:association, 1184302:Uncertain_significance, 1022:risk_factor, 17709:Benign, 36924:Pathogenic, 29691:risk_factor, 4075782:Pathogenic, 12182:Pathogenic, 13542:risk_factor, 17736:Affects|2573152:Benign|2573153:Benign|2573154:Benign, 438264:Pathogenic, 1722723:Likely_pathogenic, 202166:not_provided, 12304:Pathogenic, 14182:Pathogenic, 14180:Pathogenic, Other

CLNVC

str

Variant type

single_nucleotide_variant, Deletion, Duplication, Microsatellite, Indel, Insertion, Inversion, Variation

CLNVCSO

str

Sequence Ontology id for variant type

SO:0001483, SO:0000159, SO:1000035, SO:0000289, SO:1000032, SO:0000667, SO:1000036, SO:0001059

CLNVI

str

the variant's clinical sources reported as tag-value pairs of database and variant identifier

OMIM:154270.0001, Genetic_Testing_Registry_(GTR):GTR000569522|Genetic_Testing_Registry_(GTR):GTR000613418, OMIM:111700.0002, OMIM:131230.0001, OMIM:610665.0001, OMIM:605634.0002, OMIM:152200.0002, OMIM:611409.0013, OMIM:601146.0012, OMIM:611082.0001, OMIM:608515.0002, OMIM:102610.0015, OMIM:605556.0005, OMIM:146929.0001, OMIM:604083.0004, OMIM:601470.0001, OMIM:191328.0003, OMIM:607607.0003, OMIM:603716.0006, OMIM:614461.0002, Other

GENEINFO

str

Gene(s) for the variant reported as gene symbol:gene id. The gene symbol and id are delimited by a colon (:) and each pair is delimited by a vertical bar (|)

BRCA2:675, TTN:7273|TTN-AS1:100506866, APC:324, NF1:4763, TTN:7273, BRCA1:672, TSC2:7249, ATM:472, POLE:5426, MSH6:2956, RYR1:6261, NEB:4703, DMD:1756, RYR2:6262, FBN1:2200, MSH2:4436, USH2A:7399, DICER1:23405, ATM:472|C11orf65:160140, ADGRV1:84059, Other

str

comma separated list of molecular consequence in the form of Sequence Ontology ID|molecular_consequence

ONCDN

str

ClinVar's preferred disease name for the concept specified by disease identifiers in ONCDISDB

Neoplasm, Meningioma, Gastrointestinal_stromal_tumor, Adenoid_cystic_carcinoma, Neuroendocrine_pancreatic_tumor, Adrenal_cortex_carcinoma, Acute_myeloid_leukemia, Pineoblastoma, Colorectal_cancer, Chronic_myelogenous_leukemia|_BCR-ABL1_positive, Pancreatic_ductal_adenocarcinoma, Glioblastoma_multiforme|_somatic, Cavernous_sinus_meningioma, Neoplasm|Colorectal_cancer, Squamous_cell_carcinoma_of_the_head_and_neck, Neoplasm|Meningioma, Oligodendroglioma, Chordoma, Neoplasm|Nodal_T-follicular_helper_cell_lymphoma, Malignant_neoplastic_disease, Other

ONCREVSTAT

str

ClinVar review status of oncogenicity classification for the Variation ID

criteria_provided|_single_submitter, no_classification_for_the_single_variant, no_assertion_criteria_provided, criteria_provided|_multiple_submitters|_no_conflicts

ONCDISDB

str

Tag-value pairs of disease database name and identifier submitted for oncogenicity classifications, e.g. MedGen:NNNNNN

ONC

str

Aggregate oncogenicity classification for this single variant; multiple values are separated by a vertical bar

no_classification_for_the_single_variant, Likely_oncogenic, Uncertain_significance, Oncogenic, Likely_benign, Benign

ORIGIN

str

Allele origin

1, 0, 32, 5, 33, 2, 4, 17, 16, 9, 3, 8, 65, 64, 21, 25, 13, 49, 37, 35, Other

str

Gene(s) for the variant reported as gene symbol:gene id. The gene symbol and id are delimited by a colon (:) and each pair is delimited by a vertical bar (|)

No histogram: Histogram is not available for this score.

NO DOMAIN

SCIDN

str

ClinVar's preferred disease name for the concept specified by disease identifiers in SCIDISDB

Chronic_myelogenous_leukemia|_BCR-ABL1_positive, Acute_myeloid_leukemia, Familial_papillary_thyroid_carcinoma_with_renal_papillary_neoplasia, Primary_intracranial_sarcoma|_DICER1-mutant, Diffuse_midline_glioma|_H3_K27M-mutant, Non-small_cell_lung_carcinoma, Melanoma|Spindle_cell_sarcoma|Embryonal_rhabdomyosarcoma|Epithelioid_Glioblastoma|Colorectal_cancer, Blast_phase_chronic_myelogenous_leukemia|_BCR-ABL1_positive, Basal_cell_carcinoma, Benign_cystic_nephroma, Neurofibroma, Acute_myeloid_leukemia|Essential_thrombocythemia

SCIDISDB

str

Tag-value pairs of disease database name and identifier submitted for somatic clinial impact classifications, e.g. MedGen:NNNNNN

SCI

str

Aggregate somatic clinical impact for this single variant; multiple values are separated by a vertical bar

no_classification_for_the_single_variant, Tier_III_-_Unknown, Tier_I_-_Strong, Tier_IV_-_Benign/Likely_benign, Tier_II_-_Potential

SCIREVSTAT

str

ClinVar review status of somatic clinical impact for the Variation ID

no_classification_for_the_single_variant, no_assertion_criteria_provided, criteria_provided|_single_submitter, criteria_provided|_multiple_submitters

Files

Filename	Size	md5
clinvar_20251019.vcf.gz	166.92 MB	104e7fed959732a8280559237f62ccfd
clinvar_20251019.vcf.gz.dvc	108.0 B	10eff9e11282eac2b94e3b300b4f0805
clinvar_20251019.vcf.gz.tbi	558.01 KB	c166527aebfeb99065825d6c1f79a5e8
clinvar_20251019.vcf.gz.tbi.dvc	109.0 B	eadf18c95d1d4320bae6137b56f69732
clinvar_20251019_chr.header.vcf.gz	1.41 KB	503396d0dc1b6ec71cec8bd731d494c9
clinvar_20251019_chr.header.vcf.gz.tbi	72.0 B	4cb176febbc8c26d717a6c6e67b9c905
clinvar_20251019_chr.vcf.gz	167.26 MB	32d5f0fbb7c6a6a5bd4c59fc5120d545
clinvar_20251019_chr.vcf.gz.dvc	112.0 B	a4d89a23067b6dd02bf1716695a80c21
clinvar_20251019_chr.vcf.gz.tbi	558.27 KB	619ee9e9b6ef72020e443a4f19697590
clinvar_20251019_chr.vcf.gz.tbi.dvc	113.0 B	660368d2681edbb7c75f095aa44f2981
customplot1.py	8.09 KB	87a55cc9f852228b00b8ea19f96d9e59
dataprep.sh	947.0 B	67f577b0d6f4276b602786e3cec88a31
genomic_resource.yaml	9.77 KB	0c9c0570a28f906b037c6db2981f4960
statistics/

Filename

Size

md5

clinvar_20251019.vcf.gz

166.92 MB

104e7fed959732a8280559237f62ccfd

clinvar_20251019.vcf.gz.dvc

108.0 B

10eff9e11282eac2b94e3b300b4f0805

clinvar_20251019.vcf.gz.tbi

558.01 KB

c166527aebfeb99065825d6c1f79a5e8

clinvar_20251019.vcf.gz.tbi.dvc

109.0 B

eadf18c95d1d4320bae6137b56f69732

clinvar_20251019_chr.header.vcf.gz

1.41 KB

503396d0dc1b6ec71cec8bd731d494c9

clinvar_20251019_chr.header.vcf.gz.tbi

72.0 B

4cb176febbc8c26d717a6c6e67b9c905

clinvar_20251019_chr.vcf.gz

167.26 MB

32d5f0fbb7c6a6a5bd4c59fc5120d545

clinvar_20251019_chr.vcf.gz.dvc

112.0 B

a4d89a23067b6dd02bf1716695a80c21

clinvar_20251019_chr.vcf.gz.tbi

558.27 KB

619ee9e9b6ef72020e443a4f19697590

clinvar_20251019_chr.vcf.gz.tbi.dvc

113.0 B

660368d2681edbb7c75f095aa44f2981

customplot1.py

8.09 KB

87a55cc9f852228b00b8ea19f96d9e59

dataprep.sh

947.0 B

67f577b0d6f4276b602786e3cec88a31

genomic_resource.yaml

9.77 KB

0c9c0570a28f906b037c6db2981f4960

statistics/