KRTAP2-3[gene] - ClinVar - NCBI

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Items: 17

	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 148630	GRCh38/hg38 17q21.2(chr17:40927571-41313858)x1	KRT23, KRT39 +36 more	Copy number loss	See cases	GLikely benign
Select item 2224533	NM_001165252.2(KRTAP2-3):c.315G>T (p.Gln105His)	KRTAP2-3 (Q105H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304209	NM_001165252.2(KRTAP2-3):c.310G>A (p.Val104Met)	KRTAP2-3 (V104M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598152	NM_001165252.2(KRTAP2-3):c.262G>C (p.Val88Leu)	KRTAP2-3 (V88L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289687	NM_001165252.2(KRTAP2-3):c.224G>T (p.Arg75Leu)	KRTAP2-3 (R75L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457394	NM_001165252.2(KRTAP2-3):c.223C>T (p.Arg75Cys)	KRTAP2-3 (R75C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316246	NM_001165252.2(KRTAP2-3):c.215G>T (p.Gly72Val)	KRTAP2-3 (G72V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258042	NM_001165252.2(KRTAP2-3):c.197C>T (p.Pro66Leu)	KRTAP2-3 (P66L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323541	NM_001165252.2(KRTAP2-3):c.137G>T (p.Cys46Phe)	KRTAP2-3 (C46F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289686	NM_001165252.2(KRTAP2-3):c.20G>T (p.Gly7Val)	KRTAP2-3 (G7V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
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