1908[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	LOC130066385, LOC130066386 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 146317	GRCh38/hg38 20q13.2-13.33(chr20:55630597-60941207)x3	LOC121627913, LOC121853014 +175 more	Copy number gain	See cases	GLikely pathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	LOC130066289, LOC130066290 +491 more	Copy number gain	See cases	GPathogenic
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066383, LOC130066384 +464 more	Copy number gain	See cases	GPathogenic
Select item 146530	GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3	LOC130066362, LOC130066363 +355 more	Copy number gain	See cases	GPathogenic
Select item 1272825	NC_000020.11:g.59300108C>T	EDN3	Single nucleotide variant	not provided	GBenign
Select item 1213054	NC_000020.11:g.59300344C>T	EDN3	Single nucleotide variant	not provided	GLikely benign
Select item 1208996	NC_000020.11:g.59300381_59300395del	EDN3	Deletion	not provided	GLikely benign
Select item 339113	NM_207034.2(EDN3):c.-359T>A	EDN3	Single nucleotide variant	Hirschsprung Disease, Dominant	GUncertain significance
Select item 339114	NM_207034.2(EDN3):c.-268G>C	EDN3	Single nucleotide variant	Hirschsprung Disease, Dominant	GUncertain significance
Select item 339115	NM_207034.2(EDN3):c.-248G>A	EDN3	Single nucleotide variant	not provided +2 more	GBenign/Likely benign
Select item 339116	NM_207034.3(EDN3):c.-164G>A	EDN3	Single nucleotide variant (5 prime UTR variant)	Hirschsprung disease, susceptibility to, 4	GUncertain significance
Select item 339117	NM_207034.3(EDN3):c.-120C>T	EDN3	Single nucleotide variant (5 prime UTR variant)	Hirschsprung disease, susceptibility to, 4	GUncertain significance
Select item 895679	NM_207034.3(EDN3):c.-115G>A	EDN3	Single nucleotide variant (5 prime UTR variant)	Hirschsprung disease, susceptibility to, 4	GUncertain significance
Select item 895680	NM_207034.3(EDN3):c.-86G>A	EDN3	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 339118	NM_207034.3(EDN3):c.-85G>A	EDN3	Single nucleotide variant (5 prime UTR variant)	Hirschsprung disease, susceptibility to, 4	GUncertain significance
Select item 339119	NM_207034.3(EDN3):c.-77T>A	EDN3	Single nucleotide variant (5 prime UTR variant)	Hirschsprung disease, susceptibility to, 4 +1 more	GBenign
Select item 339120	NM_207034.3(EDN3):c.-44C>T	EDN3	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GLikely benign
Select item 1189967	NM_207034.3(EDN3):c.-19C>A	EDN3	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1433645	NM_207034.3(EDN3):c.11G>C (p.Gly4Ala)	EDN3 (G4A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 511702	NM_207034.3(EDN3):c.24T>G (p.Leu8=)	EDN3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2547586	NM_207034.3(EDN3):c.26T>A (p.Phe9Tyr)	EDN3 (F9Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 339121	NM_207034.3(EDN3):c.43T>G (p.Ser15Ala)	EDN3 (S15A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1900028	NM_207034.3(EDN3):c.48C>T (p.Ala16=)	EDN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 16646	NM_207034.3(EDN3):c.49G>A (p.Ala17Thr)	EDN3 (A17T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1596005	NM_207034.3(EDN3):c.52+7G>T	EDN3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1291826	NM_207034.3(EDN3):c.52+125C>T	EDN3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266824	NM_207034.3(EDN3):c.52+236G>A	EDN3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178568	NM_207034.3(EDN3):c.53-225G>T	EDN3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2578076	NM_207034.3(EDN3):c.137G>A (p.Cys46Tyr)	EDN3 (C46Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 523332	NM_207034.3(EDN3):c.143AGACTGTGGCTGGCCCTGGCGAGG[3] (p.48ETVAGPGE[3])	EDN3	Microsatellite (inframe_insertion)	Abnormal rectum morphology +2 more	GUncertain significance
Select item 504086	NM_207034.3(EDN3):c.143AGACTGTGGCTGGCCCTGGCGAGG[1] (p.48ETVAGPGE[1])	EDN3	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 3252810	NM_207034.3(EDN3):c.144G>C (p.Glu48Asp)	EDN3 (E48D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307799	NM_207034.3(EDN3):c.162C>T (p.Gly54=)	EDN3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1407409	NM_207034.3(EDN3):c.177_200del (p.Gly60_Ala67del)	EDN3	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1442486	NM_207034.3(EDN3):c.176C>T (p.Ala59Val)	EDN3 (A59V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 452359	NM_207034.3(EDN3):c.185G>A (p.Gly62Asp)	EDN3 (G62D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2558748	NM_207034.3(EDN3):c.190G>A (p.Gly64Arg)	EDN3 (G64R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 228661	NM_207034.3(EDN3):c.208G>A (p.Ala70Thr)	EDN3 (A70T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2896678	NM_207034.3(EDN3):c.222A>C (p.Pro74=)	EDN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 764644	NM_207034.3(EDN3):c.225C>T (p.Ser75=)	EDN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015512	NM_207034.3(EDN3):c.234C>T (p.Ser78=)	EDN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2277203	NM_207034.3(EDN3):c.241C>G (p.Gln81Glu)	EDN3 (Q81E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1381061	NM_207034.3(EDN3):c.244G>A (p.Glu82Lys)	EDN3 (E82K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2217215	NM_207034.3(EDN3):c.246G>T (p.Glu82Asp)	EDN3 (E82D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3351435	NM_207034.3(EDN3):c.251C>A (p.Ala84Glu)	EDN3 (A84E)	Single nucleotide variant (missense variant)	EDN3-related disorder	GUncertain significance
Select item 1173028	NM_207034.3(EDN3):c.251_254delinsAGGG (p.Ala84_Ala85delinsGluGly)	EDN3	Indel (missense variant)	not provided	GUncertain significance
Select item 3274511	NM_207034.3(EDN3):c.254C>G (p.Ala85Gly)	EDN3 (A85G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243713	NM_207034.3(EDN3):c.257A>T (p.Glu86Val)	EDN3 (E86V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 339122	NM_207034.3(EDN3):c.257A>G (p.Glu86Gly)	EDN3 (E86G)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 4	GUncertain significance
Select item 16648	NM_207034.3(EDN3):c.262dup (p.Ala88fs)	EDN3 (A88fs)	Duplication (frameshift variant)	Hirschsprung disease, susceptibility to, 4	Grisk factor
Select item 16643	NM_207034.3(EDN3):c.262_263delinsT (p.Ala88fs)	EDN3 (A88fs)	Indel (frameshift variant)	Waardenburg syndrome type 4B	GPathogenic
Select item 1906613	NM_207034.3(EDN3):c.263C>G (p.Ala88Gly)	EDN3 (A88G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3274512	NM_207034.3(EDN3):c.272A>G (p.His91Arg)	EDN3 (H91R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 16651	NM_207034.3(EDN3):c.277C>G (p.Arg93Gly)	EDN3 (R93G)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 4B	GPathogenic
Select item 984392	NM_207034.3(EDN3):c.293C>T (p.Thr98Met)	EDN3 (T98M)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder	GLikely pathogenic
Select item 339123	NM_207034.3(EDN3):c.293C>A (p.Thr98Lys)	EDN3 (T98K)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 4B +1 more	GConflicting classifications of pathogenicity
Select item 1630459	NM_207034.3(EDN3):c.306C>T (p.Tyr102=)	EDN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3029995	NM_207034.3(EDN3):c.309G>A (p.Lys103=)	EDN3	Single nucleotide variant (synonymous variant)	EDN3-related disorder	GLikely benign
Select item 1304396	NM_207034.3(EDN3):c.329A>G (p.Tyr110Cys)	EDN3 (Y110C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 545507	NM_207034.3(EDN3):c.332G>T (p.Cys111Phe)	EDN3 (C111F)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 4B	GUncertain significance
Select item 547292	NM_207034.3(EDN3):c.334C>A (p.His112Asn)	EDN3 (H112N)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 4B	GLikely pathogenic
Select item 16650	NM_207034.3(EDN3):c.335A>G (p.His112Arg)	EDN3 (H112R)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 4B	GPathogenic
Select item 666686	NM_207034.3(EDN3):c.342C>T (p.Asp114=)	EDN3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1895873	NM_207034.3(EDN3):c.366-15C>T	EDN3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3274513	NM_207034.3(EDN3):c.371C>T (p.Thr124Met)	EDN3 (T124M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1553318	NM_207034.3(EDN3):c.372G>A (p.Thr124=)	EDN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1533008	NM_207034.3(EDN3):c.375G>A (p.Val125=)	EDN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1803101	NM_207034.3(EDN3):c.377C>G (p.Pro126Arg)	EDN3 (P126R)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 4	GUncertain significance
Select item 2138366	NM_207034.3(EDN3):c.380A>G (p.Tyr127Cys)	EDN3 (Y127C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1478818	NM_207034.3(EDN3):c.404G>A (p.Ser135Asn)	EDN3 (S135N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314482	NM_207034.3(EDN3):c.404G>T (p.Ser135Ile)	EDN3 (S135I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314082	NM_207034.3(EDN3):c.410G>A (p.Arg137Gln)	EDN3 (R137Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 339124	NM_207034.3(EDN3):c.426G>A (p.Ala142=)	EDN3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 3051475	NM_207034.3(EDN3):c.433C>T (p.Leu145Phe)	EDN3 (L145F)	Single nucleotide variant (missense variant)	EDN3-related disorder	GUncertain significance
Select item 2205942	NM_207034.3(EDN3):c.455C>T (p.Ser152Leu)	EDN3 (S152L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1194475	NM_207034.3(EDN3):c.461G>A (p.Arg154Gln)	EDN3 (R154Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2066081	NM_207034.3(EDN3):c.467A>G (p.His156Arg)	EDN3 (H156R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 208681	NM_207034.3(EDN3):c.472C>A (p.Arg158Ser)	EDN3 (R158S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 453153	NM_207034.3(EDN3):c.473G>T (p.Arg158Leu)	EDN3 (R158L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 16644	NM_207034.3(EDN3):c.476G>T (p.Cys159Phe)	EDN3 (C159F)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 4B	GPathogenic
Select item 432982	NM_207034.3(EDN3):c.478G>A (p.Ala160Thr)	EDN3 (A160T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2907915	NM_207034.3(EDN3):c.501G>A (p.Lys167=)	EDN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 666687	NM_207034.3(EDN3):c.504C>T (p.Ala168=)	EDN3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 16649	NM_207034.3(EDN3):c.507C>A (p.Cys169Ter)	EDN3 (C169*)	Single nucleotide variant (nonsense)	Waardenburg syndrome type 4B	GPathogenic
Select item 226621	NM_207034.3(EDN3):c.525A>G (p.Gln175=)	EDN3	Single nucleotide variant (synonymous variant)	Hirschsprung disease, susceptibility to, 4 +2 more	GBenign
Select item 2974725	NM_207034.3(EDN3):c.542+12C>T	EDN3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193722	NM_207034.3(EDN3):c.543-293C>T	EDN3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 339125	NM_207034.3(EDN3):c.543-7C>T	EDN3	Single nucleotide variant (intron variant)	Hirschsprung disease, susceptibility to, 4	GUncertain significance
Select item 504330	NM_207034.3(EDN3):c.543-6C>A	EDN3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 228660	NM_207034.3(EDN3):c.554C>T (p.Thr185Met)	EDN3 (T185M)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2891127	NM_207034.3(EDN3):c.555G>A (p.Thr185=)	EDN3 (R190Q)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1471644	NM_207034.3(EDN3):c.556G>A (p.Ala186Thr)	EDN3 (A186T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 227351	NM_207034.3(EDN3):c.565dup (p.Thr189fs)	EDN3 (T189fs)	Duplication	Waardenburg syndrome type 4B +3 more	GBenign/Likely benign
Select item 2308550	NM_207034.3(EDN3):c.576A>T (p.Glu192Asp)	EDN3 (E192D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 227349	NM_207034.3(EDN3):c.585G>C (p.Gly195=)	EDN3	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 227350	NM_207034.3(EDN3):c.588+48C>T	EDN3	Single nucleotide variant (intron variant)	not specified	GLikely benign

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