KRTAP17-1[gene] - ClinVar - NCBI

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Items: 18

	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 3116972	NM_031964.2(KRTAP17-1):c.303A>G (p.Ile101Met)	KRTAP17-1 (I101M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116970	NM_031964.2(KRTAP17-1):c.287G>T (p.Cys96Phe)	KRTAP17-1 (C96F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606243	NM_031964.2(KRTAP17-1):c.287G>A (p.Cys96Tyr)	KRTAP17-1 (C96Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605167	NM_031964.2(KRTAP17-1):c.281T>G (p.Val94Gly)	KRTAP17-1 (V94G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537621	NM_031964.2(KRTAP17-1):c.221G>C (p.Gly74Ala)	KRTAP17-1 (G74A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321496	NM_031964.2(KRTAP17-1):c.199G>A (p.Gly67Ser)	KRTAP17-1 (G67S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527148	NM_031964.2(KRTAP17-1):c.149G>A (p.Gly50Asp)	KRTAP17-1 (G50D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400334	NM_031964.2(KRTAP17-1):c.131G>T (p.Gly44Val)	KRTAP17-1 (G44V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116973	NM_031964.2(KRTAP17-1):c.87T>G (p.Cys29Trp)	KRTAP17-1 (C29W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289672	NM_031964.2(KRTAP17-1):c.29C>T (p.Thr10Ile)	KRTAP17-1 (T10I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116971	NM_031964.2(KRTAP17-1):c.29C>G (p.Thr10Ser)	KRTAP17-1 (T10S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287619	NM_031964.2(KRTAP17-1):c.14C>T (p.Pro5Leu)	KRTAP17-1 (P5L)	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