DCAKD[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	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 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 2243640	NM_001288655.2(DCAKD):c.641C>T (p.Ala214Val)	DCAKD (A214V)	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 2327774	NM_001288655.2(DCAKD):c.611C>T (p.Pro204Leu)	DCAKD (P204L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3271016	NM_001288655.2(DCAKD):c.577C>T (p.His193Tyr)	DCAKD (H193Y)	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 3080358	NM_001288655.2(DCAKD):c.439C>T (p.Arg147Trp)	DCAKD (R147W)	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 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 2473355	NM_001288655.2(DCAKD):c.400T>C (p.Tyr134His)	DCAKD (Y134H)	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 2509445	NM_001288655.2(DCAKD):c.328G>A (p.Val110Met)	DCAKD (V110M)	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 2397511	NM_001288655.2(DCAKD):c.311T>C (p.Leu104Pro)	DCAKD (L104P)	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 2461455	NM_001288655.2(DCAKD):c.260C>T (p.Thr87Ile)	DCAKD (T87I)	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 2387900	NM_001288655.2(DCAKD):c.238C>T (p.Arg80Trp)	DCAKD (R80W)	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 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 3271017	NM_001288655.2(DCAKD):c.97G>A (p.Val33Met)	DCAKD (V33M)	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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 33