ClinVar for Gene (Select 100505753) - ClinVar

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Links from Gene

Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3536473	NM_001146182.2(KRTAP16-1):c.431C>T (p.Ser144Phe)	KRTAP16-1 (S144F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3536472	NM_001146182.2(KRTAP16-1):c.1175C>T (p.Ser392Phe)	KRTAP16-1 (S392F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3536471	NM_001146182.2(KRTAP16-1):c.763G>A (p.Glu255Lys)	KRTAP16-1 (E255K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3536470	NM_001146182.2(KRTAP16-1):c.1262A>G (p.Tyr421Cys)	KRTAP16-1 (Y421C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3536469	NM_001146182.2(KRTAP16-1):c.1541C>G (p.Pro514Arg)	KRTAP16-1 (P514R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3536468	NM_001146182.2(KRTAP16-1):c.1300C>T (p.Arg434Cys)	KRTAP16-1 (R434C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3536466	NM_001146182.2(KRTAP16-1):c.164G>A (p.Gly55Glu)	KRTAP16-1 (G55E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289671	NM_001146182.2(KRTAP16-1):c.343G>A (p.Glu115Lys)	KRTAP16-1 (E115K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289670	NM_001146182.2(KRTAP16-1):c.1310C>T (p.Ala437Val)	KRTAP16-1 (A437V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289669	NM_001146182.2(KRTAP16-1):c.1090T>A (p.Ser364Thr)	KRTAP16-1 (S364T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289668	NM_001146182.2(KRTAP16-1):c.1363G>A (p.Glu455Lys)	KRTAP16-1 (E455K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289667	NM_001146182.2(KRTAP16-1):c.1210A>G (p.Ile404Val)	KRTAP16-1 (I404V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289666	NM_001146182.2(KRTAP16-1):c.430T>C (p.Ser144Pro)	KRTAP16-1 (S144P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3116969	NM_001146182.2(KRTAP16-1):c.861C>A (p.Ser287Arg)	KRTAP16-1 (S287R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116968	NM_001146182.2(KRTAP16-1):c.839G>A (p.Arg280His)	KRTAP16-1 (R280H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116967	NM_001146182.2(KRTAP16-1):c.656G>A (p.Cys219Tyr)	KRTAP16-1 (C219Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116966	NM_001146182.2(KRTAP16-1):c.421C>A (p.Pro141Thr)	KRTAP16-1 (P141T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116964	NM_001146182.2(KRTAP16-1):c.373G>A (p.Val125Met)	KRTAP16-1 (V125M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116963	NM_001146182.2(KRTAP16-1):c.311C>T (p.Ser104Phe)	KRTAP16-1 (S104F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116962	NM_001146182.2(KRTAP16-1):c.290C>A (p.Thr97Asn)	KRTAP16-1 (T97N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116961	NM_001146182.2(KRTAP16-1):c.182C>T (p.Pro61Leu)	KRTAP16-1 (P61L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116960	NM_001146182.2(KRTAP16-1):c.1489A>C (p.Ile497Leu)	KRTAP16-1 (I497L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116959	NM_001146182.2(KRTAP16-1):c.1348C>T (p.Arg450Cys)	KRTAP16-1 (R450C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116958	NM_001146182.2(KRTAP16-1):c.1259C>G (p.Ser420Cys)	KRTAP16-1 (S420C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116957	NM_001146182.2(KRTAP16-1):c.1178A>T (p.Tyr393Phe)	KRTAP16-1 (Y393F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116956	NM_001146182.2(KRTAP16-1):c.1153C>T (p.Arg385Trp)	KRTAP16-1 (R385W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116955	NM_001146182.2(KRTAP16-1):c.1082C>T (p.Pro361Leu)	KRTAP16-1 (P361L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116953	NM_001146182.2(KRTAP16-1):c.1013G>A (p.Arg338His)	KRTAP16-1 (R338H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621300	NM_001146182.2(KRTAP16-1):c.433G>A (p.Val145Met)	KRTAP16-1 (V145M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602888	NM_001146182.2(KRTAP16-1):c.1154G>A (p.Arg385Gln)	KRTAP16-1 (R385Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2593251	NM_001146182.2(KRTAP16-1):c.1048C>T (p.Pro350Ser)	KRTAP16-1 (P350S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550791	NM_001146182.2(KRTAP16-1):c.551G>A (p.Cys184Tyr)	KRTAP16-1 (C184Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546775	NM_001146182.2(KRTAP16-1):c.1136T>A (p.Ile379Lys)	KRTAP16-1 (I379K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543010	NM_001146182.2(KRTAP16-1):c.631G>A (p.Ala211Thr)	KRTAP16-1 (A211T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519641	NM_001146182.2(KRTAP16-1):c.1064G>A (p.Arg355Gln)	KRTAP16-1 (R355Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2518009	NM_001146182.2(KRTAP16-1):c.253G>A (p.Val85Met)	KRTAP16-1 (V85M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511267	NM_001146182.2(KRTAP16-1):c.1196C>T (p.Pro399Leu)	KRTAP16-1 (P399L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409224	NM_001146182.2(KRTAP16-1):c.1186G>T (p.Val396Phe)	KRTAP16-1 (V396F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403193	NM_001146182.2(KRTAP16-1):c.469G>A (p.Ala157Thr)	KRTAP16-1 (A157T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2396205	NM_001146182.2(KRTAP16-1):c.1334G>A (p.Arg445His)	KRTAP16-1 (R445H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393457	NM_001146182.2(KRTAP16-1):c.665T>C (p.Val222Ala)	KRTAP16-1 (V222A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372107	NM_001146182.2(KRTAP16-1):c.1349G>A (p.Arg450His)	KRTAP16-1 (R450H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351224	NM_001146182.2(KRTAP16-1):c.515T>A (p.Val172Glu)	KRTAP16-1 (V172E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340015	NM_001146182.2(KRTAP16-1):c.680C>T (p.Ser227Phe)	KRTAP16-1 (S227F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332434	NM_001146182.2(KRTAP16-1):c.1301G>C (p.Arg434Pro)	KRTAP16-1 (R434P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330006	NM_001146182.2(KRTAP16-1):c.214C>A (p.Leu72Met)	KRTAP16-1 (L72M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310179	NM_001146182.2(KRTAP16-1):c.203G>T (p.Cys68Phe)	KRTAP16-1 (C68F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308400	NM_001146182.2(KRTAP16-1):c.746G>A (p.Cys249Tyr)	KRTAP16-1 (C249Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292607	NM_001146182.2(KRTAP16-1):c.1307C>T (p.Pro436Leu)	KRTAP16-1 (P436L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283285	NM_001146182.2(KRTAP16-1):c.1265G>A (p.Arg422His)	KRTAP16-1 (R422H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263135	NM_001146182.2(KRTAP16-1):c.197G>A (p.Ser66Asn)	KRTAP16-1 (S66N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2263087	NM_001146182.2(KRTAP16-1):c.622T>C (p.Cys208Arg)	KRTAP16-1 (C208R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261573	NM_001146182.2(KRTAP16-1):c.829G>C (p.Val277Leu)	KRTAP16-1 (V277L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249451	NM_001146182.2(KRTAP16-1):c.1204C>T (p.Arg402Cys)	KRTAP16-1 (R402C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248163	NM_001146182.2(KRTAP16-1):c.1333C>T (p.Arg445Cys)	KRTAP16-1 (R445C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220714	NM_001146182.2(KRTAP16-1):c.1104C>G (p.Ile368Met)	KRTAP16-1 (I368M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216538	NM_001146182.2(KRTAP16-1):c.1022C>T (p.Ser341Phe)	KRTAP16-1 (S341F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209220	NM_001146182.2(KRTAP16-1):c.1012C>T (p.Arg338Cys)	KRTAP16-1 (R338C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207940	NM_001146182.2(KRTAP16-1):c.1241C>T (p.Pro414Leu)	KRTAP16-1 (P414L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206670	NM_001146182.2(KRTAP16-1):c.821G>C (p.Cys274Ser)	KRTAP16-1 (C274S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 564445	GRCh37/hg19 17q21.2(chr17:39043189-39492499)x1	KRT23, KRT39 +33 more	Copy number loss	not provided	GLikely benign
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 148630	GRCh38/hg38 17q21.2(chr17:40927571-41313858)x1	KRT23, KRT39 +36 more	Copy number loss	See cases	GLikely benign
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 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: 68