ClinVar for Gene (Select 83895) - ClinVar

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Links from Gene

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3116950	NM_031957.2(KRTAP1-5):c.494G>A (p.Arg165His)	KRTAP1-5 (R165H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116949	NM_031957.2(KRTAP1-5):c.410G>A (p.Ser137Asn)	KRTAP1-5 (S137N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116948	NM_031957.2(KRTAP1-5):c.301A>G (p.Ile101Val)	KRTAP1-5 (I101V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598483	NM_031957.2(KRTAP1-5):c.411C>G (p.Ser137Arg)	KRTAP1-5 (S137R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2566558	NM_031957.2(KRTAP1-5):c.293G>T (p.Gly98Val)	KRTAP1-5 (G98V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475516	NM_031957.2(KRTAP1-5):c.10T>C (p.Cys4Arg)	KRTAP1-5 (C4R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412241	NM_031957.2(KRTAP1-5):c.383C>A (p.Thr128Asn)	KRTAP1-5 (T128N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404427	NM_031957.2(KRTAP1-5):c.112C>T (p.Arg38Cys)	KRTAP1-5 (R38C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345934	NM_031957.2(KRTAP1-5):c.359G>A (p.Arg120His)	KRTAP1-5 (R120H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345800	NM_031957.2(KRTAP1-5):c.304A>G (p.Ser102Gly)	KRTAP1-5 (S102G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2290820	NM_031957.2(KRTAP1-5):c.34C>T (p.Pro12Ser)	KRTAP1-5 (P12S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279309	NM_031957.2(KRTAP1-5):c.432C>G (p.Cys144Trp)	KRTAP1-5 (C144W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260304	NM_031957.2(KRTAP1-5):c.101G>C (p.Cys34Ser)	KRTAP1-5 (C34S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214984	NM_031957.2(KRTAP1-5):c.226T>G (p.Cys76Gly)	KRTAP1-5 (C76G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207212	NM_031957.2(KRTAP1-5):c.412T>C (p.Cys138Arg)	KRTAP1-5 (C138R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205913	NM_031957.2(KRTAP1-5):c.391C>T (p.Pro131Ser)	KRTAP1-5 (P131S)	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
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	LOC112533659, LOC112533660 +2032 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 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 23