9402[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 more	Copy number gain	See cases	GPathogenic
Select item 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	SSC5D, SYT5 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	TMC4, TMEM150B +537 more	Copy number gain	See cases	GPathogenic
Select item 599192	NC_000019.10:g.53536530_53981185dup	MIR525, MIR526A1 +61 more	Duplication	Silver Russell Syndrome-related disorder	GUncertain significance
Select item 58804	GRCh38/hg38 19q13.42(chr19:53553042-53899466)x3	DPRX, LOC121627888 +58 more	Copy number gain	See cases	GUncertain significance
Select item 1050550	NC_000019.10:g.53880653_53880654insAAGAGAGATTCAGAGTCAGAGAAACATAGAGATTCATAGAGCCAGAGACACAGAGAGATTCAGAGTCAGAGAAACATAGAGATTCATAGAGCCAGAGACA	PRKCG	Insertion	not provided	GUncertain significance
Select item 1260463	NC_000019.10:g.53882183A>C	PRKCG	Single nucleotide variant	not provided	GBenign
Select item 330055	NM_002739.5(PRKCG):c.-233C>T	PRKCG	Single nucleotide variant (5 prime UTR variant)	Spinocerebellar ataxia type 14	GUncertain significance
Select item 2579987	NM_002739.5(PRKCG):c.-192_-178del	PRKCG	Deletion (5 prime UTR variant)	not provided	GLikely benign
Select item 330056	NM_002739.5(PRKCG):c.-169G>C	PRKCG	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant cerebellar ataxia	GUncertain significance
Select item 2691281	NM_002739.5(PRKCG):c.-12G>T	PRKCG	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 546853	NM_002739.5(PRKCG):c.1A>G (p.Met1Val)	PRKCG (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2684343	NM_002739.5(PRKCG):c.8G>A (p.Gly3Asp)	PRKCG (G3D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363592	NM_002739.5(PRKCG):c.42dup (p.Pro15fs)	PRKCG (P15fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2484846	NM_002739.5(PRKCG):c.41G>A (p.Gly14Glu)	PRKCG (G14E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218773	NM_002739.5(PRKCG):c.47G>A (p.Arg16Gln)	PRKCG (R16Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 805319	NM_002739.5(PRKCG):c.68G>A (p.Gly23Glu)	PRKCG (G23E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684342	NM_002739.5(PRKCG):c.70_72delinsCCT (p.Ala24Pro)	PRKCG (A24P)	Indel (missense variant)	not provided	GUncertain significance
Select item 130037	NM_002739.5(PRKCG):c.72C>T (p.Ala24=)	PRKCG	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 42174	NM_002739.5(PRKCG):c.76A>G (p.Arg26Gly)	PRKCG (R26G)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	Gnot provided
Select item 1045901	NM_002739.5(PRKCG):c.77G>A (p.Arg26Lys)	PRKCG (R26K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807563	NM_002739.5(PRKCG):c.99C>G (p.Val33=)	PRKCG	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1298291	NM_002739.5(PRKCG):c.107A>G (p.His36Arg)	PRKCG (H36R)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	GPathogenic
Select item 1806839	NM_002739.5(PRKCG):c.114C>T (p.Phe38=)	PRKCG	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 42132	NM_002739.5(PRKCG):c.122G>C (p.Arg41Pro)	PRKCG (R41P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1807561	NM_002739.5(PRKCG):c.143T>C (p.Phe48Ser)	PRKCG (F48S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712657	NM_002739.5(PRKCG):c.154T>C (p.Cys52Arg)	PRKCG (C52R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 211956	NM_002739.5(PRKCG):c.154T>A (p.Cys52Ser)	PRKCG (C52S)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	GLikely pathogenic
Select item 1338905	NM_002739.5(PRKCG):c.155G>T (p.Cys52Phe)	PRKCG (C52F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3038206	NM_002739.5(PRKCG):c.170+9A>T	PRKCG	Single nucleotide variant (intron variant)	PRKCG-related disorder	GLikely benign
Select item 1246806	NM_002739.5(PRKCG):c.171-192G>T	PRKCG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 374716	NM_002739.5(PRKCG):c.173G>A (p.Gly58Asp)	PRKCG (G58D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3256731	NM_002739.5(PRKCG):c.187G>C (p.Gly63Arg)	PRKCG (G63R)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	GLikely pathogenic
Select item 42140	NM_002739.5(PRKCG):c.188G>T (p.Gly63Val)	PRKCG (G63V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3365895	NM_002739.5(PRKCG):c.191T>C (p.Leu64Pro)	PRKCG (L64P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 436421	NM_002739.5(PRKCG):c.197G>A (p.Cys66Tyr)	PRKCG (C66Y)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	GLikely pathogenic
Select item 2574840	NM_002739.5(PRKCG):c.202G>A (p.Val68Ile)	PRKCG (V68I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1264868	NM_002739.5(PRKCG):c.203-202G>T	PRKCG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244256	NM_002739.5(PRKCG):c.203-102A>T	PRKCG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 805315	NM_002739.5(PRKCG):c.208_231del (p.Ser70_Cys77del)	PRKCG	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 330057	NM_002739.5(PRKCG):c.207C>T (p.Cys69=)	PRKCG	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1333855	NM_002739.5(PRKCG):c.220C>T (p.His74Tyr)	PRKCG (H74Y)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 586448	NM_002739.5(PRKCG):c.221A>G (p.His74Arg)	PRKCG (H74R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700922	NM_002739.5(PRKCG):c.223C>T (p.Arg75Ter)	PRKCG (R75*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 918172	NM_002739.5(PRKCG):c.226C>T (p.Arg76Ter)	PRKCG (R76*)	Single nucleotide variant (nonsense)	Spinocerebellar ataxia type 14	Gnot provided
Select item 586449	NM_002739.5(PRKCG):c.229T>C (p.Cys77Arg)	PRKCG (C77R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 42148	NM_002739.5(PRKCG):c.229T>A (p.Cys77Ser)	PRKCG (C77S)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	GPathogenic
Select item 804155	NM_002739.5(PRKCG):c.230G>A (p.Cys77Tyr)	PRKCG (C77Y)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14 +1 more	GConflicting classifications of pathogenicity
Select item 894617	NM_002739.5(PRKCG):c.234C>T (p.His78=)	PRKCG	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 14	GUncertain significance
Select item 2633191	NM_002739.5(PRKCG):c.237A>T (p.Glu79Asp)	PRKCG (E79D)	Single nucleotide variant (missense variant)	PRKCG-related disorder	GUncertain significance
Select item 805316	NM_002739.5(PRKCG):c.254G>T (p.Cys85Phe)	PRKCG (C85F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698192	NM_002739.5(PRKCG):c.256C>G (p.Pro86Ala)	PRKCG (P86A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 917564	NM_002739.5(PRKCG):c.263C>T (p.Ala88Val)	PRKCG (A88V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 932441	NM_002739.5(PRKCG):c.283G>A (p.Asp95Asn)	PRKCG (D95N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 918175	NM_002739.5(PRKCG):c.285C>G (p.Asp95Glu)	PRKCG (D95E)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	Gnot provided
Select item 330058	NM_002739.5(PRKCG):c.285C>T (p.Asp95=)	PRKCG	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1230591	NM_002739.5(PRKCG):c.286-311G>A	PRKCG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230420	NM_002739.5(PRKCG):c.286-203dup	PRKCG	Duplication (intron variant)	not provided	GBenign
Select item 1241716	NM_002739.5(PRKCG):c.286-144C>G	PRKCG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296123	NM_002739.5(PRKCG):c.286-66A>C	PRKCG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 330059	NM_002739.5(PRKCG):c.286-12C>A	PRKCG	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 14	GBenign
Select item 42157	NM_002739.5(PRKCG):c.300_305del (p.His101_Lys102del)	PRKCG	Deletion (inframe_deletion)	Spinocerebellar ataxia type 14	GPathogenic
Select item 13244	NM_002739.5(PRKCG):c.301C>T (p.His101Tyr)	PRKCG (H101Y)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 918174	NM_002739.5(PRKCG):c.302A>G (p.His101Arg)	PRKCG (H101R)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	GLikely pathogenic
Select item 13251	NM_002739.5(PRKCG):c.303C>G (p.His101Gln)	PRKCG (H101Q)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	GPathogenic
Select item 1184519	NM_002739.5(PRKCG):c.323A>G (p.Tyr108Cys)	PRKCG (Y108C)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	GLikely pathogenic
Select item 2579327	NM_002739.5(PRKCG):c.331C>G (p.Pro111Ala)	PRKCG (P111A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2286719	NM_002739.5(PRKCG):c.335C>T (p.Thr112Ile)	PRKCG (T112I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1314858	NM_002739.5(PRKCG):c.341_356del (p.Cys114fs)	PRKCG (C114fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 42161	NM_002739.5(PRKCG):c.341G>A (p.Cys114Tyr)	PRKCG (C114Y)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	GPathogenic
Select item 425196	NM_002739.5(PRKCG):c.343G>T (p.Asp115Tyr)	PRKCG (D115Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 978272	NM_002739.5(PRKCG):c.347A>G (p.His116Arg)	PRKCG (H116R)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14 +1 more	GUncertain significance
Select item 13247	NM_002739.5(PRKCG):c.353G>A (p.Gly118Asp)	PRKCG (G118D)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 13245	NM_002739.5(PRKCG):c.355T>C (p.Ser119Pro)	PRKCG (S119P)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	GPathogenic
Select item 42163	NM_002739.5(PRKCG):c.356C>T (p.Ser119Phe)	PRKCG (S119F)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1027477	NM_002739.5(PRKCG):c.358C>T (p.Leu120Phe)	PRKCG (L120F)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	GLikely pathogenic
Select item 994943	NM_002739.5(PRKCG):c.362_379dup (p.Leu121_His126dup)	PRKCG	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 586450	NM_002739.5(PRKCG):c.362T>C (p.Leu121Pro)	PRKCG (L121P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 804156	NM_002739.5(PRKCG):c.367G>C (p.Gly123Arg)	PRKCG (G123R)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14 +1 more	GConflicting classifications of pathogenicity
Select item 42164	NM_002739.5(PRKCG):c.367G>A (p.Gly123Arg)	PRKCG (G123R)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	GPathogenic
Select item 42165	NM_002739.5(PRKCG):c.368G>A (p.Gly123Glu)	PRKCG (G123E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1305983	NM_002739.5(PRKCG):c.374T>A (p.Val125Glu)	PRKCG (V125E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 804150	NM_002739.5(PRKCG):c.379C>A (p.Gln127Lys)	PRKCG (Q127K)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1027509	NM_002739.5(PRKCG):c.380A>C (p.Gln127Pro)	PRKCG (Q127P)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	GLikely pathogenic
Select item 13248	NM_002739.5(PRKCG):c.380A>G (p.Gln127Arg)	PRKCG (Q127R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1184520	NM_002739.5(PRKCG):c.381G>T (p.Gln127His)	PRKCG (Q127H)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	GLikely pathogenic
Select item 586451	NM_002739.5(PRKCG):c.382G>C (p.Gly128Arg)	PRKCG (G128R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 13246	NM_002739.5(PRKCG):c.383G>A (p.Gly128Asp)	PRKCG (G128D)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	GPathogenic
Select item 42166	NM_002739.5(PRKCG):c.391T>C (p.Cys131Arg)	PRKCG (C131R)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	Gnot provided
Select item 42167	NM_002739.5(PRKCG):c.392G>A (p.Cys131Tyr)	PRKCG (C131Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1184521	NM_002739.5(PRKCG):c.394T>C (p.Ser132Pro)	PRKCG (S132P)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	GLikely pathogenic
Select item 448129	NM_002739.5(PRKCG):c.397+10C>G	PRKCG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 994944	NM_002739.5(PRKCG):c.401_402delinsTT (p.Cys134Phe)	PRKCG (C134F)	Indel (missense variant)	not provided	GLikely pathogenic
Select item 871358	NM_002739.5(PRKCG):c.409A>T (p.Asn137Tyr)	PRKCG (N137Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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