KRTAP4-2[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +633 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 2549570	NM_033062.4(KRTAP4-2):c.380G>A (p.Arg127His)	KRTAP4-2 (R127H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117056	NM_033062.4(KRTAP4-2):c.371C>T (p.Thr124Ile)	KRTAP4-2 (T124I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481705	NM_033062.4(KRTAP4-2):c.336G>T (p.Arg112Ser)	KRTAP4-2 (R112S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273323	NM_033062.4(KRTAP4-2):c.286T>G (p.Cys96Gly)	KRTAP4-2 (C96G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117055	NM_033062.4(KRTAP4-2):c.278C>T (p.Ser93Phe)	KRTAP4-2 (S93F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396658	NM_033062.4(KRTAP4-2):c.263C>A (p.Pro88His)	KRTAP4-2 (P88H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117054	NM_033062.4(KRTAP4-2):c.230G>T (p.Arg77Leu)	KRTAP4-2 (R77L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333080	NM_033062.4(KRTAP4-2):c.220A>T (p.Thr74Ser)	KRTAP4-2 (T74S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3117053	NM_033062.4(KRTAP4-2):c.187C>T (p.Pro63Ser)	KRTAP4-2 (P63S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209565	NM_033062.4(KRTAP4-2):c.137G>T (p.Cys46Phe)	KRTAP4-2 (C46F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117052	NM_033062.4(KRTAP4-2):c.110G>A (p.Arg37His)	KRTAP4-2 (R37H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475400	NM_033062.4(KRTAP4-2):c.107G>T (p.Cys36Phe)	KRTAP4-2 (C36F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533372	NM_033062.4(KRTAP4-2):c.47G>T (p.Gly16Val)	KRTAP4-2 (G16V)	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	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic

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Items: 20