81851[Gene ID] - ClinVar

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Items: 28

	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 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 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 2533555	NM_030967.3(KRTAP1-1):c.448G>A (p.Glu150Lys)	KRTAP1-1 (E150K)	Single nucleotide variant (missense variant)	not provided +1 more	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 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 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 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 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 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 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 3289643	NM_030967.3(KRTAP1-1):c.350G>A (p.Arg117Lys)	KRTAP1-1 (R117K)	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 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 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 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 3289642	NM_030967.3(KRTAP1-1):c.236G>A (p.Ser79Asn)	KRTAP1-1 (S79N)	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 218809	NM_030967.3(KRTAP1-1):c.209del (p.Cys70fs)	KRTAP1-1 (C70fs)	Deletion (frameshift variant)	not specified	GBenign
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 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 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 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

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Items: 28