KRTAP3-2[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

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 3117023	NM_031959.3(KRTAP3-2):c.220A>G (p.Thr74Ala)	KRTAP3-2 (T74A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117022	NM_031959.3(KRTAP3-2):c.220A>C (p.Thr74Pro)	KRTAP3-2 (T74P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289697	NM_031959.3(KRTAP3-2):c.218C>A (p.Pro73Gln)	KRTAP3-2 (P73Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225161	NM_031959.3(KRTAP3-2):c.146A>G (p.Asp49Gly)	KRTAP3-2 (D49G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289696	NM_031959.3(KRTAP3-2):c.145G>A (p.Asp49Asn)	KRTAP3-2 (D49N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117025	NM_031959.3(KRTAP3-2):c.74C>A (p.Ser25Tyr)	KRTAP3-2 (S25Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611758	NM_031959.3(KRTAP3-2):c.64T>G (p.Ser22Ala)	KRTAP3-2 (S22A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216790	NM_031959.3(KRTAP3-2):c.40G>T (p.Gly14Trp)	KRTAP3-2 (G14W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117024	NM_031959.3(KRTAP3-2):c.37A>G (p.Thr13Ala)	KRTAP3-2 (T13A)	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