79001[geneid] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 151637	GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	ZNF747, ZNF747-DT +378 more	Copy number gain	See cases	GPathogenic
Select item 146013	GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3	LOC130058889, LOC130058890 +207 more	Copy number gain	See cases	GPathogenic
Select item 144329	GRCh38/hg38 16p11.2-11.1(chr16:30691912-36160463)x3	AHSP, ARMC5 +136 more	Copy number gain	See cases	GPathogenic
Select item 369110	NC_000016.10:g.31087679C>T	PRSS53, VKORC1 (G34S)	Single nucleotide variant (missense variant)	Vitamin K-Dependent Clotting Factors +1 more	GBenign
Select item 318973	NM_024006.6(VKORC1):c.*245G>A	VKORC1	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 2	GUncertain significance
Select item 887420	NM_024006.6(VKORC1):c.*243G>A	VKORC1	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 2	GLikely benign
Select item 887421	NM_024006.6(VKORC1):c.*172T>A	VKORC1	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 2	GUncertain significance
Select item 318974	NM_024006.6(VKORC1):c.*145T>C	VKORC1	Single nucleotide variant (3 prime UTR variant)	Vitamin K-Dependent Clotting Factors	GUncertain significance
Select item 226016	NM_024006.6(VKORC1):c.*134G>A	VKORC1	Single nucleotide variant (3 prime UTR variant)	warfarin response - Dosage	Gdrug response
Select item 887422	NM_024006.6(VKORC1):c.*10C>G	VKORC1	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 2	GUncertain significance
Select item 887423	NM_024006.6(VKORC1):c.447T>C (p.Ser149=)	VKORC1	Single nucleotide variant (synonymous variant +1 more)	Vitamin K-dependent clotting factors, combined deficiency of, type 2	GUncertain significance
Select item 2210	NM_024006.6(VKORC1):c.383T>G (p.Leu128Arg)	VKORC1 (L128R +1 more)	Single nucleotide variant (missense variant +1 more)	Warfarin response	Gdrug response
Select item 887424	NM_024006.6(VKORC1):c.379G>A (p.Val127Met)	VKORC1 (V127M +2 more)	Single nucleotide variant (missense variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 2	GUncertain significance
Select item 318975	NM_024006.6(VKORC1):c.358C>T (p.Leu120=)	VKORC1 (P83L)	Single nucleotide variant (synonymous variant +1 more)	Vitamin K-dependent clotting factors, combined deficiency of, type 2 +1 more	GBenign
Select item 887598	NM_024006.6(VKORC1):c.352G>C (p.Val118Leu)	VKORC1 (V118L +2 more)	Single nucleotide variant (missense variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 2	GLikely benign
Select item 887599	NM_024006.6(VKORC1):c.342C>G (p.Leu114=)	VKORC1 (R78G)	Single nucleotide variant (synonymous variant +1 more)	Vitamin K-dependent clotting factors, combined deficiency of, type 2	GUncertain significance
Select item 2206	NM_024006.6(VKORC1):c.292C>T (p.Arg98Trp)	VKORC1 (R98W +2 more)	Single nucleotide variant (missense variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 2	GPathogenic
Select item 515931	NM_024006.6(VKORC1):c.283+837=	VKORC1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 225975	NM_024006.6(VKORC1):c.283+837T>C	VKORC1	Single nucleotide variant (intron variant)	warfarin response - Dosage	Gdrug response
Select item 2630698	NM_024006.6(VKORC1):c.283+460C>T	VKORC1 (H100Y)	Single nucleotide variant (missense variant +1 more)	VKORC1-related disorder	GUncertain significance
Select item 3045115	NM_024006.6(VKORC1):c.283+458G>A	VKORC1 (R99H)	Single nucleotide variant (missense variant +1 more)	VKORC1-related disorder	GLikely benign
Select item 3033207	NM_024006.6(VKORC1):c.283+448A>G	VKORC1 (M96V)	Single nucleotide variant (missense variant +1 more)	VKORC1-related disorder	GBenign
Select item 1316884	NM_024006.6(VKORC1):c.283+124G>A	VKORC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 226026	NM_024006.6(VKORC1):c.283+124G>C	VKORC1	Single nucleotide variant (intron variant)	warfarin response - Dosage	Gdrug response
Select item 318976	NM_024006.6(VKORC1):c.267A>T (p.Thr89=)	VKORC1	Single nucleotide variant (synonymous variant +1 more)	Vitamin K-dependent clotting factors, combined deficiency of, type 2	GUncertain significance
Select item 887600	NM_024006.6(VKORC1):c.203A>G (p.His68Arg)	VKORC1 (H68R)	Single nucleotide variant (missense variant +1 more)	Vitamin K-dependent clotting factors, combined deficiency of, type 2	GBenign
Select item 887601	NM_024006.6(VKORC1):c.202C>T (p.His68Tyr)	VKORC1 (H68Y)	Single nucleotide variant (missense variant +1 more)	Vitamin K-dependent clotting factors, combined deficiency of, type 2	GUncertain significance
Select item 692018	NM_024006.6(VKORC1):c.196G>A (p.Val66Met)	VKORC1 (V66M)	Single nucleotide variant (missense variant +1 more)	Vitamin K-dependent clotting factors, combined deficiency of, type 2 +1 more	GConflicting classifications of pathogenicity
Select item 3188667	NM_024006.6(VKORC1):c.182G>A (p.Arg61Lys)	VKORC1 (R61K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3051916	NM_024006.6(VKORC1):c.174-10C>T	VKORC1	Single nucleotide variant (intron variant)	VKORC1-related disorder	GLikely benign
Select item 37344	NM_024006.6(VKORC1):c.174-136C>T	VKORC1	Single nucleotide variant (intron variant)	warfarin response - Dosage +2 more	Gdrug response
Select item 225960	NM_024006.6(VKORC1):c.173+525C>T	VKORC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 225983	NM_024006.6(VKORC1):c.173+324T>G	VKORC1	Single nucleotide variant (intron variant)	warfarin response - Dosage	Gdrug response
Select item 887602	NM_024006.6(VKORC1):c.173+11G>T	VKORC1	Single nucleotide variant (intron variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 2	GUncertain significance
Select item 2209	NM_024006.6(VKORC1):c.172A>G (p.Arg58Gly)	VKORC1 (R58G)	Single nucleotide variant (missense variant)	Warfarin response	GPathogenic
Select item 2208	NM_024006.6(VKORC1):c.134T>C (p.Val45Ala)	VKORC1 (V45A)	Single nucleotide variant (missense variant)	Warfarin response	GPathogenic
Select item 791061	NM_024006.6(VKORC1):c.129C>T (p.Cys43=)	VKORC1	Single nucleotide variant (synonymous variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 2 +1 more	GBenign/Likely benign
Select item 884452	NM_024006.6(VKORC1):c.117C>T (p.Tyr39=)	VKORC1	Single nucleotide variant (synonymous variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 2 +1 more	GUncertain significance
Select item 3188665	NM_024006.6(VKORC1):c.112G>C (p.Asp38His)	VKORC1 (D38H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212	NM_024006.6(VKORC1):c.106G>T (p.Asp36Tyr)	VKORC1 (D36Y)	Single nucleotide variant (missense variant)	warfarin response - Dosage	Gdrug response
Select item 2207	NM_024006.6(VKORC1):c.85G>T (p.Val29Leu)	VKORC1 (V29L)	Single nucleotide variant (missense variant)	Warfarin response	GPathogenic
Select item 2646468	NM_024006.6(VKORC1):c.64C>T (p.Leu22Phe)	VKORC1 (L22F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 884453	NM_024006.6(VKORC1):c.54G>T (p.Thr18=)	VKORC1	Single nucleotide variant (synonymous variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 2	GUncertain significance
Select item 2619219	NM_024006.6(VKORC1):c.40G>A (p.Ala14Thr)	VKORC1 (A14T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2629952	NM_024006.6(VKORC1):c.36G>T (p.Arg12=)	VKORC1	Single nucleotide variant (synonymous variant)	VKORC1-related disorder	GUncertain significance
Select item 318977	NM_024006.6(VKORC1):c.36G>A (p.Arg12=)	VKORC1	Single nucleotide variant (synonymous variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 2	GBenign
Select item 3188666	NM_024006.6(VKORC1):c.14G>C (p.Trp5Ser)	VKORC1 (W5S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 283736	NM_024006.6(VKORC1):c.3G>A (p.Met1Ile)	VKORC1 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 884454	NM_024006.6(VKORC1):c.-2T>C	VKORC1	Single nucleotide variant (5 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 2	GUncertain significance
Select item 884455	NM_024006.6(VKORC1):c.-45G>A	VKORC1	Single nucleotide variant (5 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 2	GUncertain significance
Select item 318978	NM_024006.5(VKORC1):c.-160G>C	VKORC1	Single nucleotide variant	Vitamin K-Dependent Clotting Factors	GUncertain significance
Select item 60671	NG_011564.1(VKORC1):g.3639dup	VKORC1	Duplication	Warfarin response	Gdrug response
Select item 166563	NC_000016.10:g.31096368=	VKORC1	Single nucleotide variant	Warfarin response	Gdrug response
Select item 2211	NM_024006.4(VKORC1):c.-1639G>A	VKORC1	Single nucleotide variant	warfarin response - Toxicity +5 more	Gdrug response
Select item 3243573	NC_000016.9:g.(?_28889993)_(31202759_?)del	ALDOA, ASPHD1 +76 more	Deletion	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 1526506	GRCh37/hg19 16p11.2(chr16:30943854-31171177)	PRSS53, PRSS8 +12 more	Copy number loss	not specified	GLikely pathogenic
Select item 979443	GRCh37/hg19 16p11.2(chr16:30350747-31905898)x3	STX4, DCTPP1 +52 more	Copy number gain	not provided	GUncertain significance
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 687383	GRCh37/hg19 16p11.2(chr16:30851860-31156762)x1	BCKDK, BCL7C +14 more	Copy number loss	not provided	GPathogenic
Select item 598742	Single allele	TGFB1I1, TRIM72 +38 more	Deletion	Branched-chain keto acid dehydrogenase kinase deficiency	GUncertain significance
Select item 443355	GRCh37/hg19 16p11.2(chr16:30607048-31117069)x1	BCL7C, CFAP119 +18 more	Copy number loss	See cases	GUncertain significance
Select item 443135	GRCh37/hg19 16p11.2(chr16:30952806-31177641)x1	BCKDK, FBXL19 +12 more	Copy number loss	See cases	GLikely pathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 395300	GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1	AHSP, ALDOA +99 more	Copy number loss	See cases	GLikely pathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221517	GRCh37/hg19 16p11.2(chr16:30391304-31122666)x3	BCKDK, BCL7C +30 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 71