ClinVar for Gene (Select 83896) - ClinVar

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

Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3289695	NM_031958.2(KRTAP3-1):c.14C>T (p.Ala5Val)	KRTAP3-1 (A5V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3289694	NM_031958.2(KRTAP3-1):c.97C>T (p.Pro33Ser)	KRTAP3-1 (P33S)	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 3117021	NM_031958.2(KRTAP3-1):c.88G>A (p.Val30Ile)	KRTAP3-1 (V30I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117020	NM_031958.2(KRTAP3-1):c.113A>C (p.His38Pro)	KRTAP3-1 (H38P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564209	NM_031958.2(KRTAP3-1):c.289C>T (p.Arg97Cys)	KRTAP3-1 (R97C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2530505	NM_031958.2(KRTAP3-1):c.158C>A (p.Pro53Gln)	KRTAP3-1 (P53Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520088	NM_031958.2(KRTAP3-1):c.265G>A (p.Gly89Ser)	KRTAP3-1 (G89S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408338	NM_031958.2(KRTAP3-1):c.23C>A (p.Ser8Tyr)	KRTAP3-1 (S8Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400418	NM_031958.2(KRTAP3-1):c.19C>T (p.Arg7Cys)	KRTAP3-1 (R7C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2393471	NM_031958.2(KRTAP3-1):c.31G>T (p.Val11Phe)	KRTAP3-1 (V11F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385218	NM_031958.2(KRTAP3-1):c.122G>A (p.Ser41Asn)	KRTAP3-1 (S41N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366739	NM_031958.2(KRTAP3-1):c.290G>A (p.Arg97His)	KRTAP3-1 (R97H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356662	NM_031958.2(KRTAP3-1):c.20G>A (p.Arg7His)	KRTAP3-1 (R7H)	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	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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 21