ClinVar for Gene (Select 79877) - ClinVar

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Links from Gene

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341110	GRCh37/hg19 17q21.31(chr17:42927777-43706954)x1	ACBD4, ARHGAP27 +16 more	Copy number loss	Hereditary syndromic Pierre Robin syndrome	GPathogenic
Select item 3271017	NM_001288655.2(DCAKD):c.97G>A (p.Val33Met)	DCAKD (V33M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271016	NM_001288655.2(DCAKD):c.577C>T (p.His193Tyr)	DCAKD (H193Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242218	Single allele	KIF18B, LPO +196 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3080359	NM_001288655.2(DCAKD):c.592C>T (p.Arg198Cys)	DCAKD (R198C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080358	NM_001288655.2(DCAKD):c.439C>T (p.Arg147Trp)	DCAKD (R147W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080357	NM_001288655.2(DCAKD):c.337G>A (p.Asp113Asn)	DCAKD (D113N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080355	NM_001288655.2(DCAKD):c.143G>A (p.Arg48His)	DCAKD (R48H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080354	NM_001288655.2(DCAKD):c.140G>A (p.Arg47Gln)	DCAKD (R47Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080353	NM_001288655.2(DCAKD):c.100A>G (p.Met34Val)	DCAKD (M34V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509778	NM_001288655.2(DCAKD):c.239G>A (p.Arg80Gln)	DCAKD (R80Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509445	NM_001288655.2(DCAKD):c.328G>A (p.Val110Met)	DCAKD (V110M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473355	NM_001288655.2(DCAKD):c.400T>C (p.Tyr134His)	DCAKD (Y134H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461455	NM_001288655.2(DCAKD):c.260C>T (p.Thr87Ile)	DCAKD (T87I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397511	NM_001288655.2(DCAKD):c.311T>C (p.Leu104Pro)	DCAKD (L104P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387900	NM_001288655.2(DCAKD):c.238C>T (p.Arg80Trp)	DCAKD (R80W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383424	NM_001288655.2(DCAKD):c.640G>A (p.Ala214Thr)	DCAKD (A214T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370813	NM_001288655.2(DCAKD):c.296C>T (p.Thr99Met)	DCAKD (T99M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370757	NM_001288655.2(DCAKD):c.518G>A (p.Arg173His)	DCAKD (R173H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353443	NM_001288655.2(DCAKD):c.455G>A (p.Arg152His)	DCAKD (R152H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327774	NM_001288655.2(DCAKD):c.611C>T (p.Pro204Leu)	DCAKD (P204L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291235	NM_001288655.2(DCAKD):c.187G>A (p.Asp63Asn)	DCAKD (D63N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282706	NM_001288655.2(DCAKD):c.319T>C (p.Tyr107His)	DCAKD (Y107H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246647	NM_001288655.2(DCAKD):c.406G>A (p.Asp136Asn)	DCAKD (D136N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2243640	NM_001288655.2(DCAKD):c.641C>T (p.Ala214Val)	DCAKD (A214V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235319	NM_001288655.2(DCAKD):c.427C>T (p.Arg143Trp)	DCAKD (R143W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 442257	GRCh37/hg19 17q21.31(chr17:42649083-43659985)x3	ACBD4, ADAM11 +20 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 60171	GRCh38/hg38 17q21.31(chr17:44906235-45220406)x3	ACBD4, C1QL1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 59587	GRCh38/hg38 17q21.31(chr17:44928498-45299730)x1	ACBD4, C1QL1 +54 more	Copy number loss	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 36