ClinVar for MedGen (Select 372646) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3255086	NM_080632.3(UPF3B):c.442_443del (p.Asp148fs)	UPF3B (D148fs)	Microsatellite (frameshift variant)	Syndromic X-linked intellectual disability 14	GPathogenic
Select item 3027439	NM_080632.3(UPF3B):c.240del (p.Phe80fs)	UPF3B (F80fs)	Deletion (frameshift variant)	Syndromic X-linked intellectual disability 14	GLikely pathogenic
Select item 3024318	NM_080632.3(UPF3B):c.133_135del (p.Glu45del)	UPF3B (E45del)	Deletion (inframe_deletion)	Syndromic X-linked intellectual disability 14	GUncertain significance
Select item 3020225	NM_080632.3(UPF3B):c.1024G>A (p.Gly342Ser)	UPF3B (G342S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3019067	NM_080632.3(UPF3B):c.494A>C (p.Glu165Ala)	UPF3B (E165A)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 14	GUncertain significance
Select item 3016737	NM_080632.3(UPF3B):c.263+19_263+20delinsAA	UPF3B	Indel (intron variant)	Syndromic X-linked intellectual disability 14	GUncertain significance
Select item 3014425	NM_080632.3(UPF3B):c.1383dup (p.Gly462fs)	UPF3B (G462fs +1 more)	Duplication (frameshift variant)	Syndromic X-linked intellectual disability 14	GUncertain significance
Select item 3011767	NM_080632.3(UPF3B):c.370+20G>A	UPF3B	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability 14	GBenign
Select item 3009812	NM_080632.3(UPF3B):c.981C>T (p.Ser327=)	UPF3B	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability 14	GLikely benign
Select item 3006906	NM_080632.3(UPF3B):c.836A>G (p.Asn279Ser)	UPF3B (N279S)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability 14	GUncertain significance
Select item 2966919	NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAAAAAAAA	UPF3B	Insertion (intron variant)	Syndromic X-linked intellectual disability 14	GLikely benign
Select item 2960133	NM_080632.3(UPF3B):c.80G>A (p.Gly27Asp)	UPF3B (G27D)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 14	GLikely benign
Select item 2958057	NM_080632.3(UPF3B):c.108G>A (p.Gly36=)	UPF3B	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability 14	GLikely benign
Select item 2957929	NM_080632.3(UPF3B):c.625-15_625-14insGG	UPF3B	Insertion (intron variant)	Syndromic X-linked intellectual disability 14	GLikely benign
Select item 2957451	NM_080632.3(UPF3B):c.140A>C (p.Lys47Thr)	UPF3B (K47T)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 14	GBenign
Select item 2918224	NM_080632.3(UPF3B):c.294C>T (p.Tyr98=)	UPF3B	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability 14	GBenign
Select item 2913426	NM_080632.3(UPF3B):c.181A>G (p.Thr61Ala)	UPF3B (T61A)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 14	GUncertain significance
Select item 2900967	NM_080632.3(UPF3B):c.950A>G (p.Gln317Arg)	UPF3B (Q317R +1 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 14	GUncertain significance
Select item 2898772	NM_080632.3(UPF3B):c.1197A>G (p.Thr399=)	UPF3B	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability 14	GBenign
Select item 2895118	NM_080632.3(UPF3B):c.659G>A (p.Arg220Lys)	UPF3B (R220K)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 14	GUncertain significance
Select item 2884552	NM_080632.3(UPF3B):c.1303-19A>G	UPF3B	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability 14	GLikely benign
Select item 2868704	NM_080632.3(UPF3B):c.319A>G (p.Ile107Val)	UPF3B (I107V)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 14	GUncertain significance
Select item 2839686	NM_080632.3(UPF3B):c.156+16C>T	UPF3B	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability 14	GLikely benign
Select item 2818848	NM_080632.3(UPF3B):c.1440A>G (p.Gly480=)	UPF3B	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability 14	GLikely benign
Select item 2813226	NM_080632.3(UPF3B):c.224C>T (p.Pro75Leu)	UPF3B (P75L)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 14	GUncertain significance
Select item 2809934	NM_080632.3(UPF3B):c.808-8G>A	UPF3B	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability 14	GLikely benign
Select item 2799157	NM_080632.3(UPF3B):c.371-9del	UPF3B	Deletion (intron variant)	Syndromic X-linked intellectual disability 14	GBenign
Select item 2797586	NM_080632.3(UPF3B):c.594C>G (p.Thr198=)	UPF3B	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability 14	GLikely benign
Select item 2794360	NM_080632.3(UPF3B):c.15G>A (p.Lys5=)	UPF3B	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability 14	GLikely benign
Select item 2763932	NM_080632.3(UPF3B):c.332G>A (p.Arg111Lys)	UPF3B (R111K)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 14	GUncertain significance
Select item 2755195	NM_080632.3(UPF3B):c.903C>T (p.Ala301=)	UPF3B	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability 14	GLikely benign
Select item 2755147	NM_080632.3(UPF3B):c.261G>A (p.Thr87=)	UPF3B	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability 14	GLikely benign
Select item 2742482	NM_080632.3(UPF3B):c.365A>G (p.Asn122Ser)	UPF3B (N122S)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 14	GUncertain significance
Select item 2741928	NM_080632.3(UPF3B):c.384C>T (p.Pro128=)	UPF3B	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability 14	GBenign
Select item 2731851	NM_080632.3(UPF3B):c.228G>A (p.Glu76=)	UPF3B	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability 14	GLikely benign
Select item 2730281	NM_080632.3(UPF3B):c.847-20_847-18del	UPF3B	Deletion (intron variant)	Syndromic X-linked intellectual disability 14	GLikely benign
Select item 2725758	NM_080632.3(UPF3B):c.146C>T (p.Ala49Val)	UPF3B (A49V)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 14	GBenign
Select item 2718040	NM_080632.3(UPF3B):c.263+17_263+18del	UPF3B	Deletion (intron variant)	Syndromic X-linked intellectual disability 14	GLikely benign
Select item 2699062	NM_080632.3(UPF3B):c.190A>G (p.Lys64Glu)	UPF3B (K64E)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 14	GUncertain significance
Select item 2693797	NM_080632.3(UPF3B):c.182C>G (p.Thr61Ser)	UPF3B (T61S)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 14	GUncertain significance
Select item 2635742	NM_080632.3(UPF3B):c.1372A>G (p.Ser458Gly)	UPF3B (S445G +1 more)	Single nucleotide variant (missense variant)	UPF3B-related disorder +1 more	GUncertain significance
Select item 2630272	NM_080632.3(UPF3B):c.1230A>G (p.Thr410=)	UPF3B	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability 14 +1 more	GConflicting classifications of pathogenicity
Select item 2438490	NM_080632.3(UPF3B):c.815G>A (p.Arg272Lys)	UPF3B (R272K)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability 14	GUncertain significance
Select item 2427183	NC_000023.10:g.(?_118708675)_(119761021_?)dup	AKAP14, ATP1B4 +18 more	Duplication	Syndromic X-linked intellectual disability 14	GUncertain significance
Select item 2424705	NC_000023.10:g.(?_117629935)_(119761021_?)del	AKAP14, ATP1B4 +27 more	Deletion	X-linked intellectual disability Cabezas type +1 more	GPathogenic
Select item 2420350	NM_080632.3(UPF3B):c.87C>T (p.Thr29=)	UPF3B	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability 14	GLikely benign
Select item 2419920	NM_080632.3(UPF3B):c.462C>T (p.Ile154=)	UPF3B	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability 14	GLikely benign
Select item 2416058	NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAAAAAA	UPF3B	Insertion (intron variant)	Syndromic X-linked intellectual disability 14	GLikely benign
Select item 2231792	NM_080632.3(UPF3B):c.264-6C>T	UPF3B	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability 14 +1 more	GConflicting classifications of pathogenicity
Select item 2183599	NM_080632.3(UPF3B):c.989A>G (p.Lys330Arg)	UPF3B (K330R +1 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 14	GBenign
Select item 2181504	NM_080632.3(UPF3B):c.1048C>T (p.Arg350Trp)	UPF3B (R337W +1 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 14	GUncertain significance
Select item 2176319	NM_080632.3(UPF3B):c.463G>A (p.Asp155Asn)	UPF3B (D155N)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 14	GUncertain significance
Select item 2149414	NM_080632.3(UPF3B):c.1103G>A (p.Arg368Gln)	UPF3B (R355Q +1 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 14	GUncertain significance
Select item 2143484	NM_080632.3(UPF3B):c.1120C>T (p.Arg374Cys)	UPF3B (R361C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2140595	NM_080632.3(UPF3B):c.1168GAA[2] (p.Glu392del)	UPF3B (E392del +1 more)	Microsatellite (inframe_deletion)	Syndromic X-linked intellectual disability 14	GUncertain significance
Select item 2133301	NM_080632.3(UPF3B):c.912G>A (p.Leu304=)	UPF3B	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability 14	GLikely benign
Select item 2123002	NM_080632.3(UPF3B):c.580+10C>A	UPF3B	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability 14	GLikely benign
Select item 2118898	NM_080632.3(UPF3B):c.241G>A (p.Glu81Lys)	UPF3B (E81K)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 14	GUncertain significance
Select item 2096090	NM_080632.3(UPF3B):c.625-11T>C	UPF3B	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability 14	GLikely benign
Select item 2092838	NM_080632.3(UPF3B):c.159G>T (p.Val53=)	UPF3B	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability 14	GLikely benign
Select item 2092837	NM_080632.3(UPF3B):c.160delinsAC (p.Val54fs)	UPF3B (V54fs)	Indel (frameshift variant)	Syndromic X-linked intellectual disability 14	GPathogenic
Select item 2082434	NM_080632.3(UPF3B):c.56C>T (p.Pro19Leu)	UPF3B (P19L)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 14	GUncertain significance
Select item 2064455	NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAAAAAAA	UPF3B	Insertion (intron variant)	Syndromic X-linked intellectual disability 14	GLikely benign
Select item 2046329	NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAAAA	UPF3B	Insertion (intron variant)	Syndromic X-linked intellectual disability 14	GLikely benign
Select item 2040802	NM_080632.3(UPF3B):c.1264_1266del (p.Lys422del)	UPF3B (K422del +1 more)	Deletion (inframe_deletion)	Syndromic X-linked intellectual disability 14	GUncertain significance
Select item 2039555	NM_080632.3(UPF3B):c.263+14_263+18dup	UPF3B	Duplication (intron variant)	Syndromic X-linked intellectual disability 14	GBenign
Select item 2036210	NM_080632.3(UPF3B):c.847-7T>C	UPF3B	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability 14	GLikely benign
Select item 2032196	NM_080632.3(UPF3B):c.1255dup (p.Thr419fs)	UPF3B (T406fs +1 more)	Duplication (frameshift variant)	Syndromic X-linked intellectual disability 14	GUncertain significance
Select item 2029467	NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	UPF3B	Insertion (intron variant)	Syndromic X-linked intellectual disability 14	GLikely benign
Select item 1994727	NM_080632.3(UPF3B):c.89C>T (p.Ser30Leu)	UPF3B (S30L)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 14	GUncertain significance
Select item 1981929	NM_080632.3(UPF3B):c.1075A>G (p.Ile359Val)	UPF3B (I359V +1 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 14	GUncertain significance
Select item 1960451	NM_080632.3(UPF3B):c.625-4C>T	UPF3B	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability 14	GLikely benign
Select item 1958199	NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAC	UPF3B	Insertion (intron variant)	Syndromic X-linked intellectual disability 14	GLikely benign
Select item 1955900	NM_080632.3(UPF3B):c.846+19A>T	UPF3B	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability 14	GLikely benign
Select item 1954813	NM_080632.3(UPF3B):c.1052A>G (p.Glu351Gly)	UPF3B (E338G +1 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 14	GUncertain significance
Select item 1940279	NM_080632.3(UPF3B):c.1352G>A (p.Arg451Gln)	UPF3B (R451Q +1 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 14	GUncertain significance
Select item 1939194	NM_080632.3(UPF3B):c.195G>A (p.Glu65=)	UPF3B	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability 14	GLikely benign
Select item 1919245	NM_080632.3(UPF3B):c.1196C>T (p.Thr399Ile)	UPF3B (T399I +1 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 14	GUncertain significance
Select item 1906961	NM_080632.3(UPF3B):c.717A>G (p.Glu239=)	UPF3B	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability 14	GLikely benign
Select item 1906332	NM_080632.3(UPF3B):c.1008-18_1008-17del	UPF3B	Deletion (intron variant)	Syndromic X-linked intellectual disability 14	GLikely benign
Select item 1804141	NM_080632.3(UPF3B):c.1147G>T (p.Glu383Ter)	UPF3B (E370* +1 more)	Single nucleotide variant (nonsense)	Syndromic X-linked intellectual disability 14	GLikely pathogenic
Select item 1766836	NM_080632.3(UPF3B):c.93G>A (p.Gly31=)	UPF3B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1763970	NM_080632.3(UPF3B):c.1265A>G (p.Lys422Arg)	UPF3B (K422R +1 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 14 +1 more	GUncertain significance
Select item 1735870	NM_080632.3(UPF3B):c.388A>G (p.Ile130Val)	UPF3B (I130V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1718760	NM_080632.3(UPF3B):c.520A>G (p.Met174Val)	UPF3B (M174V)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 14	GUncertain significance
Select item 1712323	NM_080632.3(UPF3B):c.270T>G (p.Tyr90Ter)	UPF3B (Y90*)	Single nucleotide variant (nonsense)	Syndromic X-linked intellectual disability 14	GLikely pathogenic
Select item 1710635	NM_080632.3(UPF3B):c.937A>G (p.Arg313Gly)	UPF3B (R300G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1699417	NM_080632.3(UPF3B):c.1166_1167del (p.Lys389fs)	UPF3B (K376fs +1 more)	Deletion (frameshift variant)	Syndromic X-linked intellectual disability 14	GPathogenic
Select item 1673848	NM_080632.3(UPF3B):c.263+4_263+18dup	UPF3B	Duplication (intron variant)	Syndromic X-linked intellectual disability 14	GLikely benign
Select item 1669889	NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAA	UPF3B	Insertion (intron variant)	Syndromic X-linked intellectual disability 14	GLikely benign
Select item 1657808	NM_080632.3(UPF3B):c.960A>C (p.Thr320=)	UPF3B	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability 14	GLikely benign
Select item 1655319	NM_080632.3(UPF3B):c.261G>T (p.Thr87=)	UPF3B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1651138	NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	UPF3B	Insertion (intron variant)	Syndromic X-linked intellectual disability 14	GLikely benign
Select item 1636570	NM_080632.3(UPF3B):c.263+6_263+18dup	UPF3B	Duplication (intron variant)	Syndromic X-linked intellectual disability 14	GLikely benign
Select item 1636009	NM_080632.3(UPF3B):c.263+12_263+18dup	UPF3B	Duplication (intron variant)	Syndromic X-linked intellectual disability 14	GLikely benign
Select item 1635780	NM_080632.3(UPF3B):c.263+13_263+18dup	UPF3B	Duplication (intron variant)	Syndromic X-linked intellectual disability 14	GLikely benign
Select item 1622841	NM_080632.3(UPF3B):c.263+5_263+18dup	UPF3B	Duplication (intron variant)	Syndromic X-linked intellectual disability 14 +1 more	GLikely benign
Select item 1616094	NM_080632.3(UPF3B):c.263+12A>G	UPF3B	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability 14	GLikely benign
Select item 1615705	NM_080632.3(UPF3B):c.263+8_263+18dup	UPF3B	Duplication (intron variant)	Syndromic X-linked intellectual disability 14	GLikely benign
Select item 1613629	NM_080632.3(UPF3B):c.807+19T>C	UPF3B	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability 14	GBenign

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