ClinVar for Gene (Select 100132386) - ClinVar - NCBI

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Links from Gene

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2540814	NM_001146041.1(KRTAP4-9):c.560C>G (p.Thr187Ser)	KRTAP4-9 (T187S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402686	NM_001146041.1(KRTAP4-9):c.307A>G (p.Thr103Ala)	KRTAP4-9 (T103A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401379	NM_001146041.1(KRTAP4-9):c.592A>C (p.Ser198Arg)	KRTAP4-9 (S198R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396414	NM_001146041.1(KRTAP4-9):c.529C>T (p.Arg177Cys)	KRTAP4-9 (R177C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372810	NM_001146041.1(KRTAP4-9):c.605C>T (p.Pro202Leu)	KRTAP4-9 (P202L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367414	NM_001146041.1(KRTAP4-9):c.386G>T (p.Cys129Phe)	KRTAP4-9 (C129F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354743	NM_001146041.1(KRTAP4-9):c.76C>T (p.Arg26Cys)	KRTAP4-9 (R26C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344742	NM_001146041.1(KRTAP4-9):c.41G>T (p.Gly14Val)	KRTAP4-9 (G14V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219244	NM_001146041.1(KRTAP4-9):c.70T>G (p.Cys24Gly)	KRTAP4-9 (C24G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211029	NM_001146041.1(KRTAP4-9):c.377G>A (p.Arg126His)	KRTAP4-9 (R126H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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	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 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