KRTAP9-8[gene] - ClinVar

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Items: 24

	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 2407243	NM_031963.3(KRTAP9-8):c.13T>A (p.Cys5Ser)	KRTAP9-8 (C5S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117157	NM_031963.3(KRTAP9-8):c.35C>T (p.Thr12Met)	KRTAP9-8 (T12M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611759	NM_031963.3(KRTAP9-8):c.47C>G (p.Thr16Ser)	KRTAP9-8 (T16S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205478	NM_031963.3(KRTAP9-8):c.50C>A (p.Thr17Asn)	KRTAP9-8 (T17N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360725	NM_031963.3(KRTAP9-8):c.55T>G (p.Trp19Gly)	KRTAP9-8 (W19G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550285	NM_031963.3(KRTAP9-8):c.103C>G (p.Pro35Ala)	KRTAP9-8 (P35A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375985	NM_031963.3(KRTAP9-8):c.103C>T (p.Pro35Ser)	KRTAP9-8 (P35S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341993	NM_031963.3(KRTAP9-8):c.106T>G (p.Ser36Ala)	KRTAP9-8 (S36A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289524	NM_031963.3(KRTAP9-8):c.162C>G (p.Asn54Lys)	KRTAP9-8 (N54K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647764	NM_031963.3(KRTAP9-8):c.228T>C (p.Cys76=)	KRTAP9-8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2329955	NM_031963.3(KRTAP9-8):c.317A>G (p.Tyr106Cys)	KRTAP9-8 (Y106C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376148	NM_031963.3(KRTAP9-8):c.323C>G (p.Pro108Arg)	KRTAP9-8 (P108R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117155	NM_031963.3(KRTAP9-8):c.326C>T (p.Thr109Met)	KRTAP9-8 (T109M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117156	NM_031963.3(KRTAP9-8):c.329C>G (p.Thr110Ser)	KRTAP9-8 (T110S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348674	NM_031963.3(KRTAP9-8):c.347G>A (p.Cys116Tyr)	KRTAP9-8 (C116Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117158	NM_031963.3(KRTAP9-8):c.391C>T (p.Arg131Cys)	KRTAP9-8 (R131C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464069	NM_031963.3(KRTAP9-8):c.439C>A (p.Pro147Thr)	KRTAP9-8 (P147T)	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: 24