ClinVar for Gene (Select 3883) - ClinVar

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Links from Gene

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3289424	NM_004138.4(KRT33A):c.1154G>A (p.Cys385Tyr)	KRT33A (C385Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289423	NM_004138.4(KRT33A):c.1087G>A (p.Glu363Lys)	KRT33A (E363K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289421	NM_004138.4(KRT33A):c.455G>A (p.Arg152Gln)	KRT33A (R152Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289420	NM_004138.4(KRT33A):c.314C>T (p.Ser105Phe)	KRT33A (S105F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289419	NM_004138.4(KRT33A):c.223C>T (p.Arg75Cys)	KRT33A (R75C)	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 3116458	NM_004138.4(KRT33A):c.266G>T (p.Arg89Leu)	KRT33A (R89L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116457	NM_004138.4(KRT33A):c.17G>T (p.Gly6Val)	KRT33A (G6V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116456	NM_004138.4(KRT33A):c.113C>T (p.Pro38Leu)	KRT33A (P38L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116455	NM_004138.4(KRT33A):c.1014G>T (p.Glu338Asp)	KRT33A (E338D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609710	NM_004138.4(KRT33A):c.229C>G (p.Leu77Val)	KRT33A (L77V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595137	NM_004138.4(KRT33A):c.1086C>A (p.Ser362Arg)	KRT33A (S362R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590198	NM_004138.4(KRT33A):c.389A>G (p.Gln130Arg)	KRT33A (Q130R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589047	NM_004138.4(KRT33A):c.986G>T (p.Arg329Leu)	KRT33A (R329L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588872	NM_004138.4(KRT33A):c.878G>A (p.Arg293Gln)	KRT33A (R293Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535395	NM_004138.4(KRT33A):c.1109A>G (p.Asn370Ser)	KRT33A (N370S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522880	NM_004138.4(KRT33A):c.853G>A (p.Glu285Lys)	KRT33A (E285K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513597	NM_004138.4(KRT33A):c.623G>A (p.Arg208His)	KRT33A (R208H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482511	NM_004138.4(KRT33A):c.757G>A (p.Glu253Lys)	KRT33A (E253K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473802	NM_004138.4(KRT33A):c.1040C>A (p.Ala347Glu)	KRT33A (A347E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462738	NM_004138.4(KRT33A):c.82G>A (p.Gly28Ser)	KRT33A (G28S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457256	NM_004138.4(KRT33A):c.1033G>A (p.Val345Met)	KRT33A (V345M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456271	NM_004138.4(KRT33A):c.938A>G (p.Gln313Arg)	KRT33A (Q313R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402995	NM_004138.4(KRT33A):c.1126A>G (p.Asn376Asp)	KRT33A (N376D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400394	NM_004138.4(KRT33A):c.224G>A (p.Arg75His)	KRT33A (R75H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398793	NM_004138.4(KRT33A):c.745A>C (p.Thr249Pro)	KRT33A (T249P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387319	NM_004138.4(KRT33A):c.916C>T (p.Arg306Cys)	KRT33A (R306C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379517	NM_004138.4(KRT33A):c.245C>T (p.Ala82Val)	KRT33A (A82V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379191	NM_004138.4(KRT33A):c.689G>A (p.Ser230Asn)	KRT33A (S230N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379033	NM_004138.4(KRT33A):c.53C>T (p.Ser18Phe)	KRT33A (S18F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375601	NM_004138.4(KRT33A):c.454C>T (p.Arg152Trp)	KRT33A (R152W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372685	NM_004138.4(KRT33A):c.479A>G (p.Asn160Ser)	KRT33A (N160S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370168	NM_004138.4(KRT33A):c.141C>G (p.Phe47Leu)	KRT33A (F47L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368885	NM_004138.4(KRT33A):c.1178G>A (p.Arg393His)	KRT33A (R393H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367994	NM_004138.4(KRT33A):c.622C>T (p.Arg208Cys)	KRT33A (R208C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361540	NM_004138.4(KRT33A):c.659A>G (p.Asp220Gly)	KRT33A (D220G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359775	NM_004138.4(KRT33A):c.719G>A (p.Arg240His)	KRT33A (R240H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357542	NM_004138.4(KRT33A):c.127A>G (p.Asn43Asp)	KRT33A (N43D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315959	NM_004138.4(KRT33A):c.134A>G (p.Asn45Ser)	KRT33A (N45S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291642	NM_004138.4(KRT33A):c.998A>G (p.Glu333Gly)	KRT33A (E333G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281130	NM_004138.4(KRT33A):c.31A>G (p.Ser11Gly)	KRT33A (S11G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281129	NM_004138.4(KRT33A):c.1183C>T (p.Arg395Trp)	KRT33A (R395W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280673	NM_004138.4(KRT33A):c.448T>G (p.Ser150Ala)	KRT33A (S150A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264556	NM_004138.4(KRT33A):c.1090G>A (p.Asp364Asn)	KRT33A (D364N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253230	NM_004138.4(KRT33A):c.555G>C (p.Glu185Asp)	KRT33A (E185D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242504	NM_004138.4(KRT33A):c.835G>A (p.Val279Ile)	KRT33A (V279I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226424	NM_004138.4(KRT33A):c.488G>T (p.Arg163Leu)	KRT33A (R163L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223983	NM_004138.4(KRT33A):c.427A>G (p.Thr143Ala)	KRT33A (T143A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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
Select item 161620	NM_004138.4(KRT33A):c.215A>G (p.Glu72Gly)	KRT33A (E72G)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
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 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 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

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Links from Gene

Items: 54