ClinVar for Gene (Select 3888) - ClinVar

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Links from Gene

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3116738	NM_033033.4(KRT82):c.916G>A (p.Glu306Lys)	KRT82 (E306K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116737	NM_033033.4(KRT82):c.893A>G (p.Asp298Gly)	KRT82 (D298G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116736	NM_033033.4(KRT82):c.760A>G (p.Lys254Glu)	KRT82 (K254E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116735	NM_033033.4(KRT82):c.699C>G (p.Phe233Leu)	KRT82 (F233L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116734	NM_033033.4(KRT82):c.65C>T (p.Ala22Val)	KRT82 (A22V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116733	NM_033033.4(KRT82):c.571G>C (p.Glu191Gln)	KRT82 (E191Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116732	NM_033033.4(KRT82):c.508G>C (p.Glu170Gln)	KRT82 (E170Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116731	NM_033033.4(KRT82):c.415C>T (p.Arg139Cys)	KRT82 (R139C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116730	NM_033033.4(KRT82):c.342G>C (p.Gln114His)	KRT82 (Q114H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116729	NM_033033.4(KRT82):c.196C>T (p.Arg66Trp)	KRT82 (R66W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116728	NM_033033.4(KRT82):c.1484G>A (p.Gly495Glu)	KRT82 (G495E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063247	GRCh37/hg19 12q13.13(chr12:52654531-52846133)x1	KRT6B, KRT75 +6 more	Copy number loss	not specified	GUncertain significance
Select item 3063245	GRCh37/hg19 12q13.13(chr12:52654531-52847289)x1	KRT6B, KRT75 +6 more	Copy number loss	not specified	GUncertain significance
Select item 2643018	NM_033033.4(KRT82):c.1113C>T (p.Gly371=)	KRT82	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2613668	NM_033033.4(KRT82):c.1328G>A (p.Ser443Asn)	KRT82 (S443N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601072	NM_033033.4(KRT82):c.670G>T (p.Ala224Ser)	KRT82 (A224S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598235	NM_033033.4(KRT82):c.1418G>C (p.Ser473Thr)	KRT82 (S473T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598160	NM_033033.4(KRT82):c.1045G>A (p.Glu349Lys)	KRT82 (E349K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592408	NM_033033.4(KRT82):c.769T>A (p.Tyr257Asn)	KRT82 (Y257N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569092	NM_033033.4(KRT82):c.841C>T (p.Arg281Trp)	KRT82 (R281W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545966	NM_033033.4(KRT82):c.932A>G (p.Tyr311Cys)	KRT82 (Y311C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524171	NM_033033.4(KRT82):c.137T>C (p.Leu46Pro)	KRT82 (L46P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521908	NM_033033.4(KRT82):c.1265G>A (p.Arg422His)	KRT82 (R422H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519916	NM_033033.4(KRT82):c.1229A>T (p.Lys410Met)	KRT82 (K410M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486810	NM_033033.4(KRT82):c.1211A>T (p.Gln404Leu)	KRT82 (Q404L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472544	NM_033033.4(KRT82):c.1453G>A (p.Glu485Lys)	KRT82 (E485K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463316	NM_033033.4(KRT82):c.242G>A (p.Arg81Gln)	KRT82 (R81Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455279	NM_033033.4(KRT82):c.163C>T (p.Arg55Trp)	KRT82 (R55W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394858	NM_033033.4(KRT82):c.124G>A (p.Gly42Ser)	KRT82 (G42S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391430	NM_033033.4(KRT82):c.940C>T (p.Arg314Trp)	KRT82 (R314W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386650	NM_033033.4(KRT82):c.1118C>T (p.Ala373Val)	KRT82 (A373V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376261	NM_033033.4(KRT82):c.1085G>A (p.Gly362Asp)	KRT82 (G362D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358582	NM_033033.4(KRT82):c.263C>T (p.Pro88Leu)	KRT82 (P88L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356835	NM_033033.4(KRT82):c.1306G>T (p.Gly436Trp)	KRT82 (G436W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328256	NM_033033.4(KRT82):c.1378G>A (p.Val460Ile)	KRT82 (V460I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327713	NM_033033.4(KRT82):c.1312G>A (p.Val438Met)	KRT82 (V438M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316352	NM_033033.4(KRT82):c.640C>A (p.Leu214Met)	KRT82 (L214M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302253	NM_033033.4(KRT82):c.1034G>A (p.Arg345Gln)	KRT82 (R345Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278312	NM_033033.4(KRT82):c.751G>A (p.Asp251Asn)	KRT82 (D251N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267399	NM_033033.4(KRT82):c.611A>G (p.Tyr204Cys)	KRT82 (Y204C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255901	NM_033033.4(KRT82):c.994C>T (p.Arg332Cys)	KRT82 (R332C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252426	NM_033033.4(KRT82):c.994C>A (p.Arg332Ser)	KRT82 (R332S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248754	NM_033033.4(KRT82):c.1493C>G (p.Ser498Cys)	KRT82 (S498C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234854	NM_033033.4(KRT82):c.797C>G (p.Ser266Cys)	KRT82 (S266C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225875	NM_033033.4(KRT82):c.1342G>A (p.Ala448Thr)	KRT82 (A448T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	AAAS, ABCD2 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 153751	GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1	ACVR1B, ACVRL1 +206 more	Copy number loss	See cases	GPathogenic
Select item 152062	GRCh38/hg38 12q13.12-13.13(chr12:50633888-52851909)x1	ACVR1B, ACVRL1 +136 more	Copy number loss	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 100885	NM_033033.4(KRT82):c.630G>C (p.Glu210Asp)	KRT82 (E210D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar

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Links from Gene

Items: 53