KRT26[gene] - ClinVar

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Items: 44

	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 2247191	NM_181539.5(KRT26):c.1360A>C (p.Ile454Leu)	KRT26 (I454L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313839	NM_181539.5(KRT26):c.1352C>A (p.Ser451Tyr)	KRT26 (S451Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289387	NM_181539.5(KRT26):c.1349A>T (p.Lys450Met)	KRT26 (K450M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536154	NM_181539.5(KRT26):c.1240G>A (p.Gly414Arg)	KRT26 (G414R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283760	NM_181539.5(KRT26):c.1217A>G (p.Lys406Arg)	KRT26 (K406R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289394	NM_181539.5(KRT26):c.1169T>C (p.Leu390Ser)	KRT26 (L390S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116409	NM_181539.5(KRT26):c.1105G>C (p.Glu369Gln)	KRT26 (E369Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116408	NM_181539.5(KRT26):c.1024C>T (p.Leu342Phe)	KRT26 (L342F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265219	NM_181539.5(KRT26):c.989C>T (p.Ser330Phe)	KRT26 (S330F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116413	NM_181539.5(KRT26):c.961A>G (p.Met321Val)	KRT26 (M321V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257818	NM_181539.5(KRT26):c.945A>G (p.Ile315Met)	KRT26 (I315M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231066	NM_181539.5(KRT26):c.871G>A (p.Asp291Asn)	KRT26 (D291N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2339165	NM_181539.5(KRT26):c.868T>C (p.Ser290Pro)	KRT26 (S290P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616371	NM_181539.5(KRT26):c.851C>G (p.Thr284Arg)	KRT26 (T284R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289388	NM_181539.5(KRT26):c.848C>G (p.Ala283Gly)	KRT26 (A283G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116410	NM_181539.5(KRT26):c.753C>A (p.Asp251Glu)	KRT26 (D251E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210859	NM_181539.5(KRT26):c.656C>G (p.Thr219Ser)	KRT26 (T219S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513703	NM_181539.5(KRT26):c.616G>A (p.Asp206Asn)	KRT26 (D206N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289390	NM_181539.5(KRT26):c.607T>C (p.Cys203Arg)	KRT26 (C203R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289389	NM_181539.5(KRT26):c.581G>A (p.Arg194His)	KRT26 (R194H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2465409	NM_181539.5(KRT26):c.581G>C (p.Arg194Pro)	KRT26 (R194P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483302	NM_181539.5(KRT26):c.497G>A (p.Arg166Lys)	KRT26 (R166K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341766	NM_181539.5(KRT26):c.422T>C (p.Ile141Thr)	KRT26 (I141T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469652	NM_181539.5(KRT26):c.390C>G (p.His130Gln)	KRT26 (H130Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315765	NM_181539.5(KRT26):c.387A>T (p.Glu129Asp)	KRT26 (E129D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240321	NM_181539.5(KRT26):c.382C>T (p.Arg128Trp)	KRT26 (R128W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274958	NM_181539.5(KRT26):c.380C>T (p.Ser127Phe)	KRT26 (S127F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2393361	NM_181539.5(KRT26):c.338A>G (p.Gln113Arg)	KRT26 (Q113R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390918	NM_181539.5(KRT26):c.323A>G (p.Asn108Ser)	KRT26 (N108S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570130	NM_181539.5(KRT26):c.313G>A (p.Glu105Lys)	KRT26 (E105K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622046	NM_181539.5(KRT26):c.250A>C (p.Lys84Gln)	KRT26 (K84Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380994	NM_181539.5(KRT26):c.170G>A (p.Cys57Tyr)	KRT26 (C57Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221131	NM_181539.5(KRT26):c.97G>C (p.Val33Leu)	KRT26 (V33L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116411	NM_181539.5(KRT26):c.85G>A (p.Val29Met)	KRT26 (V29M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267790	NM_181539.5(KRT26):c.67G>A (p.Gly23Ser)	KRT26 (G23S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208009	NM_181539.5(KRT26):c.44G>A (p.Arg15Gln)	KRT26 (R15Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2260806	NM_181539.5(KRT26):c.16T>A (p.Ser6Thr)	KRT26 (S6T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478644	NM_181539.5(KRT26):c.14T>C (p.Leu5Pro)	KRT26 (L5P)	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 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: 44