KRTAP9-9[gene] - ClinVar

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Items: 22

	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 3117160	NM_030975.2(KRTAP9-9):c.11G>A (p.Cys4Tyr)	KRTAP9-9 (C4Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223231	NM_030975.2(KRTAP9-9):c.22T>G (p.Cys8Gly)	KRTAP9-9 (C8G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117164	NM_030975.2(KRTAP9-9):c.83G>A (p.Ser28Asn)	KRTAP9-9 (S33N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607301	NM_030975.2(KRTAP9-9):c.91C>A (p.Pro31Thr)	KRTAP9-9 (P36T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216539	NM_030975.2(KRTAP9-9):c.118T>A (p.Ser40Thr)	KRTAP9-9 (S45T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117161	NM_030975.2(KRTAP9-9):c.205A>T (p.Ser69Cys)	KRTAP9-9 (S74C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346437	NM_030975.2(KRTAP9-9):c.208T>G (p.Cys70Gly)	KRTAP9-9 (C70G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277172	NM_030975.2(KRTAP9-9):c.227G>A (p.Cys76Tyr)	KRTAP9-9 (C76Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457615	NM_030975.2(KRTAP9-9):c.235A>C (p.Thr79Pro)	KRTAP9-9 (T79P +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2470807	NM_030975.2(KRTAP9-9):c.242G>A (p.Cys81Tyr)	KRTAP9-9 (C81Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514764	NM_030975.2(KRTAP9-9):c.251T>C (p.Ile84Thr)	KRTAP9-9 (I84T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2298922	NM_030975.2(KRTAP9-9):c.289G>A (p.Gly97Arg)	KRTAP9-9 (G102R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273445	NM_030975.2(KRTAP9-9):c.290G>A (p.Gly97Glu)	KRTAP9-9 (G97E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362510	NM_030975.2(KRTAP9-9):c.413C>A (p.Pro138His)	KRTAP9-9 (P138H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117163	NM_030975.2(KRTAP9-9):c.449G>T (p.Cys150Phe)	KRTAP9-9 (C150F +1 more)	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: 22