ClinVar for Gene (Select 65109) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3337731	NM_080632.3(UPF3B):c.1069G>A (p.Glu357Lys)	UPF3B (E344K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336985	NM_080632.3(UPF3B):c.1266_1269del (p.Glu423fs)	UPF3B (E410fs +1 more)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 3336057	NM_080632.3(UPF3B):c.1288C>A (p.Arg430=)	UPF3B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 3250631	NM_080632.3(UPF3B):c.66C>G (p.Ala22=)	UPF3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3234270	NM_080632.3(UPF3B):c.1008-6A>G	UPF3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3186790	NM_080632.3(UPF3B):c.797C>G (p.Pro266Arg)	UPF3B (P266R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186789	NM_080632.3(UPF3B):c.16G>T (p.Glu6Ter)	UPF3B (E6*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 3186787	NM_080632.3(UPF3B):c.1090G>A (p.Glu364Lys)	UPF3B (E364K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062532	GRCh37/hg19 Xq24(chrX:118982260-119101845)	AKAP14, NDUFA1 +3 more	Copy number gain	not specified	GUncertain significance
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
Select item 3035782	NM_080632.3(UPF3B):c.685A>C (p.Arg229=)	UPF3B	Single nucleotide variant (synonymous variant)	UPF3B-related disorder	GLikely benign
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 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	TAF9B, ARMCX2 +488 more	Copy number gain	not provided	GPathogenic
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)	Syndromic X-linked intellectual disability 14 +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 2685761	GRCh37/hg19 Xq23-25(chrX:110921170-124327177)x2	AGTR2, AKAP14 +66 more	Copy number gain	not provided	GPathogenic
Select item 2685717	GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1	ABCD1, ACTRT1 +258 more	Copy number loss	not provided	GPathogenic
Select item 2685715	GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1	ACSL4, AGTR2 +175 more	Copy number loss	not provided	GPathogenic
Select item 2661307	NM_080632.3(UPF3B):c.1044G>A (p.Arg348=)	UPF3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661306	NM_080632.3(UPF3B):c.1263_1265del (p.Lys422del)	UPF3B (K409del +1 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2661305	NM_080632.3(UPF3B):c.1289G>A (p.Arg430Gln)	UPF3B (R417Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661304	NM_080632.3(UPF3B):c.1380G>C (p.Lys460Asn)	UPF3B (K447N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661303	NC_000023.11:g.119831544C>A	UPF3B	Single nucleotide variant (genic downstream transcript variant)	not provided	GLikely benign
Select item 2661302	NC_000023.11:g.119815271G>C	UPF3B	Single nucleotide variant (genic downstream transcript variant)	not provided	GLikely benign
Select item 2635742	NM_080632.3(UPF3B):c.1372A>G (p.Ser458Gly)	UPF3B (S445G +1 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 14 +1 more	GUncertain significance
Select item 2630272	NM_080632.3(UPF3B):c.1230A>G (p.Thr410=)	UPF3B	Single nucleotide variant (synonymous variant)	UPF3B-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2579943	NM_080632.3(UPF3B):c.932A>G (p.Asp311Gly)	UPF3B (D298G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572924	NM_080632.3(UPF3B):c.1211G>T (p.Gly404Val)	UPF3B (G391V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571377	NM_080632.3(UPF3B):c.9A>C (p.Glu3Asp)	UPF3B (E3D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2547401	NM_080632.3(UPF3B):c.686G>A (p.Arg229Lys)	UPF3B (R229K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2504551	NM_080632.3(UPF3B):c.470-5_470-2del	UPF3B	Deletion (splice acceptor variant)	not provided	GUncertain significance
Select item 2499273	NM_080632.3(UPF3B):c.869G>A (p.Gly290Glu)	UPF3B (G277E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499151	NC_000023.11:g.119815258C>T	UPF3B	Single nucleotide variant (genic downstream transcript variant)	not provided	GLikely benign
Select item 2446159	NM_080632.3(UPF3B):c.159_160delinsTAC (p.Val54fs)	UPF3B (V54fs)	Indel (frameshift variant)	not provided	GPathogenic
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 2430883	NM_080632.3(UPF3B):c.1157_1158del (p.Thr385_Phe386insTer)	UPF3B	Deletion (nonsense)	not provided	GPathogenic
Select item 2430487	NM_080632.3(UPF3B):c.1091_1094del (p.Glu364fs)	UPF3B (E351fs +1 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2427183	NC_000023.10:g.(?_118708675)_(119761021_?)dup	ATP1B4, AKAP14 +18 more	Duplication	Syndromic X-linked intellectual disability 14	GUncertain significance
Select item 2425677	NC_000023.10:g.(?_118968841)_(119010497_?)del	NDUFA1, RNF113A +1 more	Deletion	not provided	GUncertain significance
Select item 2425675	NC_000023.10:g.(?_117629935)_(119761021_?)dup	AKAP14, ATP1B4 +27 more	Duplication	not provided	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 2325682	NM_080632.3(UPF3B):c.77G>A (p.Gly26Asp)	UPF3B (G26D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316209	NM_080632.3(UPF3B):c.1243A>G (p.Ser415Gly)	UPF3B (S402G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2235338	NM_080632.3(UPF3B):c.80G>T (p.Gly27Val)	UPF3B (G27V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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)	Syndromic X-linked intellectual disability 14 +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

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