ClinVar for Gene (Select 81851) - ClinVar

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

Links from Gene

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3116917	NM_030967.3(KRTAP1-1):c.302T>C (p.Ile101Thr)	KRTAP1-1 (I101T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116914	NM_030967.3(KRTAP1-1):c.224G>A (p.Cys75Tyr)	KRTAP1-1 (C75Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533555	NM_030967.3(KRTAP1-1):c.448G>A (p.Glu150Lys)	KRTAP1-1 (E150K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513196	NM_030967.3(KRTAP1-1):c.84C>A (p.Ser28Arg)	KRTAP1-1 (S28R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495089	NM_030967.3(KRTAP1-1):c.457T>C (p.Cys153Arg)	KRTAP1-1 (C153R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492314	NM_030967.3(KRTAP1-1):c.56C>A (p.Thr19Asn)	KRTAP1-1 (T19N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476383	NM_030967.3(KRTAP1-1):c.304G>A (p.Gly102Ser)	KRTAP1-1 (G102S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473511	NM_030967.3(KRTAP1-1):c.493C>T (p.Arg165Cys)	KRTAP1-1 (R165C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468566	NM_030967.3(KRTAP1-1):c.422C>T (p.Pro141Leu)	KRTAP1-1 (P141L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466372	NM_030967.3(KRTAP1-1):c.358C>T (p.Arg120Cys)	KRTAP1-1 (R120C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348869	NM_030967.3(KRTAP1-1):c.368G>C (p.Cys123Ser)	KRTAP1-1 (C123S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297592	NM_030967.3(KRTAP1-1):c.403G>C (p.Val135Leu)	KRTAP1-1 (V135L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273756	NM_030967.3(KRTAP1-1):c.346A>G (p.Ile116Val)	KRTAP1-1 (I116V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2263514	NM_030967.3(KRTAP1-1):c.370C>T (p.Arg124Cys)	KRTAP1-1 (R124C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259007	NM_030967.3(KRTAP1-1):c.185C>A (p.Thr62Asn)	KRTAP1-1 (T62N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256072	NM_030967.3(KRTAP1-1):c.382A>G (p.Thr128Ala)	KRTAP1-1 (T128A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250811	NM_030967.3(KRTAP1-1):c.359G>T (p.Arg120Leu)	KRTAP1-1 (R120L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238046	NM_030967.3(KRTAP1-1):c.251G>C (p.Ser84Thr)	KRTAP1-1 (S84T)	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	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 218809	NM_030967.3(KRTAP1-1):c.209del (p.Cys70fs)	KRTAP1-1 (C70fs)	Deletion (frameshift variant)	not specified	GBenign
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	ABCA10, ADAM11 +2032 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 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +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: 26