1417[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067187, LOC130067188 +556 more	Copy number gain	See cases	GPathogenic
Select item 57499	GRCh38/hg38 22q11.23(chr22:24884631-25299561)x3	CRYBB2, CRYBB3 +13 more	Copy number gain	See cases	GUncertain significance
Select item 148675	GRCh38/hg38 22q11.23-12.1(chr22:24972072-26101385)x3	CRYBB2, CRYBB3 +35 more	Copy number gain	See cases	GLikely benign
Select item 145620	GRCh38/hg38 22q11.23-12.1(chr22:25003092-28634004)x1	LOC130067151, LOC130067152 +119 more	Copy number loss	See cases	GLikely pathogenic
Select item 899617	NM_004076.5(CRYBB3):c.-61C>T	CRYBB3	Single nucleotide variant (5 prime UTR variant)	Cataract 22 multiple types	GUncertain significance
Select item 899618	NM_004076.5(CRYBB3):c.-57C>G	CRYBB3	Single nucleotide variant (5 prime UTR variant)	Cataract 22 multiple types	GUncertain significance
Select item 340947	NM_004076.5(CRYBB3):c.-20-13T>C	CRYBB3	Single nucleotide variant (intron variant)	Congenital nuclear cataract +2 more	GBenign
Select item 2385647	NM_004076.5(CRYBB3):c.5C>T (p.Ala2Val)	CRYBB3 (A2V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 703368	NM_004076.5(CRYBB3):c.6G>A (p.Ala2=)	CRYBB3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2332290	NM_004076.5(CRYBB3):c.8A>G (p.Glu3Gly)	CRYBB3 (E3G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 340948	NM_004076.5(CRYBB3):c.25G>A (p.Glu9Lys)	CRYBB3 (E9K)	Single nucleotide variant (missense variant)	Cataract 22 multiple types	GUncertain significance
Select item 340949	NM_004076.5(CRYBB3):c.38C>G (p.Ala13Gly)	CRYBB3 (A13G)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1533803	NM_004076.5(CRYBB3):c.51T>C (p.His17=)	CRYBB3	Single nucleotide variant (synonymous variant)	Cataract 22 multiple types	GLikely benign
Select item 2910559	NM_004076.5(CRYBB3):c.75+7G>C	CRYBB3	Single nucleotide variant (intron variant)	Cataract 22 multiple types	GLikely benign
Select item 1639465	NM_004076.5(CRYBB3):c.75+18G>A	CRYBB3	Single nucleotide variant (intron variant)	Cataract 22 multiple types	GLikely benign
Select item 1273709	NM_004076.5(CRYBB3):c.75+188C>T	CRYBB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247886	NM_004076.5(CRYBB3):c.75+273_75+274insAT	CRYBB3	Insertion (intron variant)	not provided	GBenign
Select item 1217200	NM_004076.5(CRYBB3):c.76-299C>T	CRYBB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1955730	NM_004076.5(CRYBB3):c.96G>T (p.Glu32Asp)	CRYBB3 (E32D)	Single nucleotide variant (missense variant)	Cataract 22 multiple types +1 more	GConflicting classifications of pathogenicity
Select item 3006153	NM_004076.5(CRYBB3):c.99C>T (p.Asn33=)	CRYBB3	Single nucleotide variant (synonymous variant)	Cataract 22 multiple types	GBenign
Select item 2521556	NM_004076.5(CRYBB3):c.112C>T (p.Arg38Cys)	CRYBB3 (R38C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3269658	NM_004076.5(CRYBB3):c.113G>A (p.Arg38His)	CRYBB3 (R38H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 623978	NM_004076.5(CRYBB3):c.116G>T (p.Cys39Phe)	CRYBB3 (C39F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 902426	NM_004076.5(CRYBB3):c.125C>T (p.Ser42Leu)	CRYBB3 (S42L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 902427	NM_004076.5(CRYBB3):c.136C>T (p.Pro46Ser)	CRYBB3 (P46S)	Single nucleotide variant (missense variant)	Cataract 22 multiple types	GUncertain significance
Select item 340950	NM_004076.5(CRYBB3):c.144G>A (p.Leu48=)	CRYBB3	Single nucleotide variant (synonymous variant)	Cataract 22 multiple types	GUncertain significance
Select item 2606294	NM_004076.5(CRYBB3):c.148G>T (p.Asp50Tyr)	CRYBB3 (D50Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1381388	NM_004076.5(CRYBB3):c.157C>A (p.Leu53Met)	CRYBB3 (L53M)	Single nucleotide variant (missense variant)	Cataract 22 multiple types	GUncertain significance
Select item 2893328	NM_004076.5(CRYBB3):c.159_160insTCG (p.Leu53_Glu54insSer)	CRYBB3	Insertion (inframe_insertion)	Cataract 22 multiple types	GUncertain significance
Select item 340951	NM_004076.5(CRYBB3):c.174C>T (p.Ser58=)	CRYBB3	Single nucleotide variant (synonymous variant)	Cataract 22 multiple types	GUncertain significance
Select item 902428	NM_004076.5(CRYBB3):c.189C>T (p.Ser63=)	CRYBB3	Single nucleotide variant (synonymous variant)	Cataract 22 multiple types	GUncertain significance
Select item 2271188	NM_004076.5(CRYBB3):c.190G>A (p.Gly64Arg)	CRYBB3 (G64R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 631887	NM_004076.5(CRYBB3):c.194+1G>T	CRYBB3	Single nucleotide variant (splice donor variant)	Cataract 22 multiple types	GUncertain significance
Select item 3269659	NM_004076.5(CRYBB3):c.196T>G (p.Trp66Gly)	CRYBB3 (W66G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 340952	NM_004076.5(CRYBB3):c.213C>T (p.Ser71=)	CRYBB3	Single nucleotide variant (synonymous variant)	Cataract 22 multiple types +1 more	GConflicting classifications of pathogenicity
Select item 903286	NM_004076.5(CRYBB3):c.224G>T (p.Arg75Leu)	CRYBB3 (R75L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 902429	NM_004076.5(CRYBB3):c.224G>A (p.Arg75His)	CRYBB3 (R75H)	Single nucleotide variant (missense variant)	Cataract 22 multiple types	GUncertain significance
Select item 3253557	NM_004076.5(CRYBB3):c.226G>A (p.Gly76Arg)	CRYBB3 (G76R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3046411	NM_004076.5(CRYBB3):c.234G>A (p.Gln78=)	CRYBB3	Single nucleotide variant (synonymous variant)	CRYBB3-related disorder	GLikely benign
Select item 903287	NM_004076.5(CRYBB3):c.235T>A (p.Phe79Ile)	CRYBB3 (F79I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1003766	NM_004076.5(CRYBB3):c.263G>A (p.Arg88His)	CRYBB3 (R88H)	Single nucleotide variant (missense variant)	Cataract 22 multiple types	GUncertain significance
Select item 2819792	NM_004076.5(CRYBB3):c.287G>A (p.Arg96His)	CRYBB3 (R96H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2291327	NM_004076.5(CRYBB3):c.299G>T (p.Ser100Ile)	CRYBB3 (S100I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337667	NM_004076.5(CRYBB3):c.310C>T (p.Leu104Phe)	CRYBB3 (L104F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 340953	NM_004076.5(CRYBB3):c.313C>T (p.Arg105Trp)	CRYBB3 (R105W)	Single nucleotide variant (missense variant)	Cataract 22 multiple types	GUncertain significance
Select item 259228	NM_004076.5(CRYBB3):c.314G>A (p.Arg105Gln)	CRYBB3 (R105Q)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 631888	NM_004076.5(CRYBB3):c.327+1G>T	CRYBB3	Single nucleotide variant (splice donor variant)	Cataract 22 multiple types	GConflicting classifications of pathogenicity
Select item 2430391	NM_004076.5(CRYBB3):c.327+3G>C	CRYBB3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1595230	NM_004076.5(CRYBB3):c.327+13C>T	CRYBB3	Single nucleotide variant (intron variant)	Cataract 22 multiple types	GLikely benign
Select item 1245458	NM_004076.5(CRYBB3):c.327+130A>G	CRYBB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294536	NM_004076.5(CRYBB3):c.328-301C>A	CRYBB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257318	NM_004076.5(CRYBB3):c.328-111G>T	CRYBB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179280	NM_004076.5(CRYBB3):c.328-73C>T	CRYBB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 903288	NM_004076.5(CRYBB3):c.328-8G>A	CRYBB3	Single nucleotide variant (intron variant)	Cataract 22 multiple types	GUncertain significance
Select item 392473	NM_004076.5(CRYBB3):c.329A>G (p.Asp110Gly)	CRYBB3 (D110G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 259229	NM_004076.5(CRYBB3):c.337C>G (p.His113Asp)	CRYBB3 (H113D)	Single nucleotide variant (missense variant)	Congenital nuclear cataract +3 more	GBenign
Select item 340954	NM_004076.5(CRYBB3):c.379C>T (p.Arg127Cys)	CRYBB3 (R127C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 658617	NM_004076.5(CRYBB3):c.380G>A (p.Arg127His)	CRYBB3 (R127H)	Single nucleotide variant (missense variant)	Cataract 22 multiple types +1 more	GUncertain significance
Select item 2554239	NM_004076.5(CRYBB3):c.392T>C (p.Ile131Thr)	CRYBB3 (I131T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2009486	NM_004076.5(CRYBB3):c.392T>G (p.Ile131Arg)	CRYBB3 (I131R)	Single nucleotide variant (missense variant)	Cataract 22 multiple types	GLikely pathogenic
Select item 3040112	NM_004076.5(CRYBB3):c.423T>C (p.Ala141=)	CRYBB3	Single nucleotide variant (synonymous variant)	CRYBB3-related disorder	GLikely benign
Select item 2394518	NM_004076.5(CRYBB3):c.440G>A (p.Arg147His)	CRYBB3 (R147H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 899688	NM_004076.5(CRYBB3):c.454C>T (p.Arg152Cys)	CRYBB3 (R152C)	Single nucleotide variant (missense variant)	Cataract 22 multiple types +1 more	GUncertain significance
Select item 2324836	NM_004076.5(CRYBB3):c.455G>C (p.Arg152Pro)	CRYBB3 (R152P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 534700	NM_004076.5(CRYBB3):c.466G>A (p.Gly156Arg)	CRYBB3 (G156R)	Single nucleotide variant (missense variant)	Cataract 22 multiple types +1 more	GConflicting classifications of pathogenicity
Select item 1704644	NM_004076.5(CRYBB3):c.467G>A (p.Gly156Glu)	CRYBB3 (G156E)	Single nucleotide variant (missense variant)	Microphthalmia +1 more	GPathogenic
Select item 1296679	NM_004076.5(CRYBB3):c.470+136C>T	CRYBB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1706841	NM_004076.5(CRYBB3):c.470+159G>A	CRYBB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228222	NM_004076.5(CRYBB3):c.470+160C>T	CRYBB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221630	NM_004076.5(CRYBB3):c.471-306G>A	CRYBB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257118	NM_004076.5(CRYBB3):c.471-230A>G	CRYBB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290810	NM_004076.5(CRYBB3):c.471-224G>A	CRYBB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193211	NM_004076.5(CRYBB3):c.471-194A>G	CRYBB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 259230	NM_004076.5(CRYBB3):c.471-6C>T	CRYBB3	Single nucleotide variant (intron variant)	Congenital nuclear cataract +3 more	GBenign/Likely benign
Select item 653862	NM_004076.5(CRYBB3):c.471-5G>A	CRYBB3	Single nucleotide variant (intron variant)	Cataract 22 multiple types	GUncertain significance
Select item 466359	NM_004076.5(CRYBB3):c.475G>A (p.Val159Ile)	CRYBB3 (V159I)	Single nucleotide variant (missense variant)	Cataract 22 multiple types +1 more	GBenign/Likely benign
Select item 466360	NM_004076.5(CRYBB3):c.492C>A (p.Pro164=)	CRYBB3	Single nucleotide variant (synonymous variant)	Cataract 22 multiple types	GLikely benign
Select item 16948	NM_004076.4(CRYBB3):c.[493G>C];[493G>C]	CRYBB3 (G165R)	Single nucleotide variant (missense variant)	Developmental cataract +1 more	GPathogenic
Select item 1000861	NM_004076.5(CRYBB3):c.503G>A (p.Gly168Glu)	CRYBB3 (G168E)	Single nucleotide variant (missense variant)	Cataract 22 multiple types	GUncertain significance
Select item 900829	NM_004076.5(CRYBB3):c.505C>T (p.Arg169Cys)	CRYBB3 (R169C)	Single nucleotide variant (missense variant)	Cataract 22 multiple types	GUncertain significance
Select item 340955	NM_004076.5(CRYBB3):c.506G>A (p.Arg169His)	CRYBB3 (R169H)	Single nucleotide variant (missense variant)	Cataract 22 multiple types	GUncertain significance
Select item 2471298	NM_004076.5(CRYBB3):c.523C>T (p.Arg175Trp)	CRYBB3 (R175W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 900830	NM_004076.5(CRYBB3):c.524G>A (p.Arg175Gln)	CRYBB3 (R175Q)	Single nucleotide variant (missense variant)	Cataract 22 multiple types	GUncertain significance
Select item 2793400	NM_004076.5(CRYBB3):c.528C>A (p.Gly176=)	CRYBB3	Single nucleotide variant (synonymous variant)	Cataract 22 multiple types	GLikely benign
Select item 900831	NM_004076.5(CRYBB3):c.531G>T (p.Glu177Asp)	CRYBB3 (E177D)	Single nucleotide variant (missense variant)	Cataract 22 multiple types	GUncertain significance
Select item 900832	NM_004076.5(CRYBB3):c.536G>A (p.Arg179His)	CRYBB3 (R179H)	Single nucleotide variant (missense variant)	Cataract 22 multiple types +1 more	GUncertain significance
Select item 466361	NM_004076.5(CRYBB3):c.547G>T (p.Glu183Ter)	CRYBB3 (E183*)	Single nucleotide variant (nonsense)	Cataract 22 multiple types +2 more	GConflicting classifications of pathogenicity
Select item 340956	NM_004076.5(CRYBB3):c.567G>A (p.Pro189=)	CRYBB3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 143233	NM_004076.5(CRYBB3):c.581T>A (p.Val194Glu)	CRYBB3 (V194E)	Single nucleotide variant (missense variant)	Cataract 22 multiple types	GPathogenic
Select item 340957	NM_004076.5(CRYBB3):c.584G>A (p.Arg195His)	CRYBB3 (R195H)	Single nucleotide variant (missense variant)	Cataract 22 multiple types	GConflicting classifications of pathogenicity
Select item 3077714	NM_004076.5(CRYBB3):c.587G>A (p.Arg196His)	CRYBB3 (R196H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406969	NM_004076.5(CRYBB3):c.592C>T (p.Arg198Cys)	CRYBB3 (R198C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 340958	NM_004076.5(CRYBB3):c.603G>T (p.Lys201Asn)	CRYBB3 (K201N)	Single nucleotide variant (missense variant)	Cataract 22 multiple types +1 more	GUncertain significance
Select item 902501	NM_004076.5(CRYBB3):c.613C>T (p.Arg205Trp)	CRYBB3 (R205W)	Single nucleotide variant (missense variant)	Cataract 22 multiple types	GUncertain significance
Select item 1315374	NM_004076.5(CRYBB3):c.614G>A (p.Arg205Gln)	CRYBB3 (R205Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 902502	NM_004076.5(CRYBB3):c.620G>A (p.Arg207His)	CRYBB3 (R207H)	Single nucleotide variant (missense variant)	Cataract 22 multiple types +1 more	GUncertain significance

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