ClinVar for Gene (Select 3882) - ClinVar

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Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2588592	NM_002278.3(KRT32):c.85G>A (p.Val29Met)	KRT32 (V29M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2562452	NM_002278.3(KRT32):c.59G>A (p.Arg20Gln)	KRT32 (R20Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544640	NM_002278.3(KRT32):c.959A>G (p.Asn320Ser)	KRT32 (N320S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534061	NM_002278.3(KRT32):c.1222C>A (p.Pro408Thr)	KRT32 (P408T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520526	NM_002278.3(KRT32):c.523A>C (p.Lys175Gln)	KRT32 (K175Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518785	NM_002278.3(KRT32):c.1163G>A (p.Arg388Gln)	KRT32 (R388Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474366	NM_002278.3(KRT32):c.130A>C (p.Met44Leu)	KRT32 (M44L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408327	NM_002278.3(KRT32):c.1069A>G (p.Met357Val)	KRT32 (M357V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384206	NM_002278.3(KRT32):c.742C>T (p.Arg248Cys)	KRT32 (R248C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382252	NM_002278.3(KRT32):c.1324C>A (p.Pro442Thr)	KRT32 (P442T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382246	NM_002278.3(KRT32):c.1117G>C (p.Glu373Gln)	KRT32 (E373Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379426	NM_002278.3(KRT32):c.1022C>T (p.Thr341Met)	KRT32 (T341M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375052	NM_002278.3(KRT32):c.773C>T (p.Pro258Leu)	KRT32 (P258L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371611	NM_002278.3(KRT32):c.1300C>T (p.Arg434Cys)	KRT32 (R434C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348779	NM_002278.3(KRT32):c.58C>T (p.Arg20Trp)	KRT32 (R20W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323260	NM_002278.3(KRT32):c.952A>G (p.Thr318Ala)	KRT32 (T318A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313840	NM_002278.3(KRT32):c.806G>A (p.Arg269Gln)	KRT32 (R269Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307140	NM_002278.3(KRT32):c.373G>A (p.Glu125Lys)	KRT32 (E125K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280730	NM_002278.3(KRT32):c.1108G>A (p.Ala370Thr)	KRT32 (A370T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264840	NM_002278.3(KRT32):c.1207G>A (p.Glu403Lys)	KRT32 (E403K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213036	NM_002278.3(KRT32):c.169C>T (p.Arg57Trp)	KRT32 (R57W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208973	NM_002278.3(KRT32):c.68C>T (p.Ser23Leu)	KRT32 (S23L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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

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Links from Gene

Items: 27