ClinVar for Gene (Select 85293) - ClinVar - NCBI

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

Links from Gene

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3289699	NM_033185.3(KRTAP3-3):c.143G>C (p.Cys48Ser)	KRTAP3-3 (C48S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289698	NM_033185.3(KRTAP3-3):c.136A>G (p.Thr46Ala)	KRTAP3-3 (T46A)	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 3117028	NM_033185.3(KRTAP3-3):c.220A>T (p.Thr74Ser)	KRTAP3-3 (T74S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117027	NM_033185.3(KRTAP3-3):c.178C>A (p.Pro60Thr)	KRTAP3-3 (P60T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397127	NM_033185.3(KRTAP3-3):c.8G>T (p.Cys3Phe)	KRTAP3-3 (C3F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320632	NM_033185.3(KRTAP3-3):c.22G>A (p.Gly8Ser)	KRTAP3-3 (G8S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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
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	AARSD1, AATF +2032 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 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic