ClinVar for MedGen (Select 423627) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2680059	NM_033028.5(BBS4):c.511dup (p.Tyr171fs)	BBS4 (Y171fs)	Duplication (5 prime UTR variant +2 more)	Bardet-Biedl syndrome 4	GLikely pathogenic
Select item 2680058	NM_033028.5(BBS4):c.1106del (p.Lys369fs)	BBS4 (K197fs +2 more)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 4	GLikely pathogenic
Select item 2680057	NM_033028.5(BBS4):c.1308G>A (p.Trp436Ter)	BBS4 (W264* +2 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 4	GLikely pathogenic
Select item 2680056	NM_033028.5(BBS4):c.1106+1G>A	BBS4	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 4	GLikely pathogenic
Select item 2680055	NM_033028.5(BBS4):c.1037-2A>G	BBS4	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 4	GLikely pathogenic
Select item 2680054	NM_033028.5(BBS4):c.103C>T (p.Gln35Ter)	BBS4 (Q35*)	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome 4	GLikely pathogenic
Select item 2680053	NM_033028.5(BBS4):c.31C>T (p.Gln11Ter)	BBS4 (Q11*)	Single nucleotide variant (nonsense +2 more)	Bardet-Biedl syndrome 4 +1 more	GPathogenic
Select item 2680052	NM_033028.5(BBS4):c.276_277del (p.Ala94fs)	BBS4 (A94fs)	Deletion (5 prime UTR variant +2 more)	Bardet-Biedl syndrome 4 +1 more	GPathogenic/Likely pathogenic
Select item 2680051	NM_033028.5(BBS4):c.1118T>A (p.Leu373Ter)	BBS4 (L201* +2 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 4	GLikely pathogenic
Select item 2680049	NM_033028.5(BBS4):c.87del (p.Pro30fs)	BBS4 (P30fs)	Deletion (frameshift variant +2 more)	Bardet-Biedl syndrome 4 +1 more	GPathogenic/Likely pathogenic
Select item 2680048	NM_033028.5(BBS4):c.864+1G>A	BBS4	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 4 +1 more	GLikely pathogenic
Select item 2680047	NM_033028.5(BBS4):c.95T>A (p.Leu32Ter)	BBS4 (L32*)	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome 4	GLikely pathogenic
Select item 2680046	NM_033028.5(BBS4):c.1202_1203dup (p.Val402fs)	BBS4 (V230fs +2 more)	Duplication (frameshift variant +1 more)	Bardet-Biedl syndrome 4	GLikely pathogenic
Select item 2680045	NM_033028.5(BBS4):c.101del (p.Lys34fs)	BBS4 (K34fs)	Deletion (5 prime UTR variant +2 more)	Bardet-Biedl syndrome 4	GLikely pathogenic
Select item 2680044	NM_033028.5(BBS4):c.584_585dup (p.Glu196fs)	BBS4 (E196fs +1 more)	Duplication (frameshift variant +1 more)	Bardet-Biedl syndrome 4	GLikely pathogenic
Select item 2680043	NM_033028.5(BBS4):c.608_609del (p.Glu203fs)	BBS4 (E203fs +1 more)	Microsatellite (frameshift variant +1 more)	Bardet-Biedl syndrome 4	GLikely pathogenic
Select item 2680042	NM_033028.5(BBS4):c.1248+2dup	BBS4	Duplication (splice donor variant)	Bardet-Biedl syndrome 4	GLikely pathogenic
Select item 2680041	NM_033028.5(BBS4):c.1389dup (p.Ser464fs)	BBS4 (S292fs +2 more)	Duplication (frameshift variant +1 more)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2680040	NM_033028.5(BBS4):c.55C>T (p.Gln19Ter)	BBS4 (Q19*)	Single nucleotide variant (nonsense +2 more)	Bardet-Biedl syndrome 4 +1 more	GPathogenic/Likely pathogenic
Select item 2680039	NM_033028.5(BBS4):c.1106+2T>C	BBS4	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 4	GLikely pathogenic
Select item 2680038	NM_033028.5(BBS4):c.1185T>A (p.Tyr395Ter)	BBS4 (Y223* +2 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 4	GLikely pathogenic
Select item 2680037	NM_033028.5(BBS4):c.642+2T>G	BBS4	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 4 +1 more	GPathogenic/Likely pathogenic
Select item 2680036	NM_033028.5(BBS4):c.295C>T (p.Gln99Ter)	BBS4 (Q99*)	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome 4	GLikely pathogenic
Select item 2680035	NM_033028.5(BBS4):c.406G>T (p.Glu136Ter)	BBS4 (E136*)	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome 4 +1 more	GPathogenic/Likely pathogenic
Select item 2680034	NM_033028.5(BBS4):c.1398del (p.Ala467fs)	BBS4 (A295fs +2 more)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 4	GLikely pathogenic
Select item 2680033	NM_033028.5(BBS4):c.405G>A (p.Trp135Ter)	BBS4 (W135*)	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome 4	GLikely pathogenic
Select item 2680032	NM_033028.5(BBS4):c.819del (p.Leu272_Trp273insTer)	BBS4	Deletion (nonsense +1 more)	Bardet-Biedl syndrome 4	GLikely pathogenic
Select item 2680031	NM_033028.5(BBS4):c.1450+2T>C	BBS4	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 4	GLikely pathogenic
Select item 2680030	NM_033028.5(BBS4):c.150del (p.Cys51fs)	BBS4 (C51fs)	Deletion (5 prime UTR variant +2 more)	Bardet-Biedl syndrome 4	GLikely pathogenic
Select item 2439479	NM_033028.5(BBS4):c.1286A>G (p.Gln429Arg)	BBS4 (Q257R +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 4	GUncertain significance
Select item 2439478	NM_033028.5(BBS4):c.470A>G (p.Gln157Arg)	BBS4 (Q157R)	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome 4	GUncertain significance
Select item 2439477	NM_033028.5(BBS4):c.76+3del	BBS4	Deletion (intron variant)	Bardet-Biedl syndrome 4	GUncertain significance
Select item 2439475	NM_033028.5(BBS4):c.1391C>G (p.Ser464Cys)	BBS4 (S292C +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 4	GUncertain significance
Select item 2436778	NM_033028.5(BBS4):c.1037-1G>A	BBS4	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 4	GLikely pathogenic
Select item 2436750	NM_033028.5(BBS4):c.1205_1208del (p.Val402fs)	BBS4 (V230fs +2 more)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 4	GLikely pathogenic
Select item 2200217	NM_033028.5(BBS4):c.514dup (p.Ile172fs)	BBS4 (I172fs)	Duplication (5 prime UTR variant +2 more)	Bardet-Biedl syndrome 4 +1 more	GPathogenic
Select item 2198631	NM_033028.5(BBS4):c.220+1G>A	BBS4	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 4 +1 more	GPathogenic/Likely pathogenic
Select item 2197130	NM_033028.5(BBS4):c.10G>T (p.Glu4Ter)	BBS4 (E4*)	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome 4 +1 more	GPathogenic/Likely pathogenic
Select item 2192610	NM_033028.5(BBS4):c.616dup (p.Thr206fs)	BBS4 (T206fs +1 more)	Duplication (frameshift variant +1 more)	Bardet-Biedl syndrome +2 more	GPathogenic/Likely pathogenic
Select item 2185519	NM_033028.5(BBS4):c.1264C>T (p.Gln422Ter)	BBS4 (Q399* +2 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 4 +1 more	GPathogenic/Likely pathogenic
Select item 2137734	NM_033028.5(BBS4):c.1180C>T (p.Gln394Ter)	BBS4 (Q371* +2 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 4 +1 more	GPathogenic/Likely pathogenic
Select item 2099641	NM_033028.5(BBS4):c.1294dup (p.Glu432fs)	BBS4 (E432fs +2 more)	Duplication (non-coding transcript variant +1 more)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2014919	NM_033028.5(BBS4):c.1248+1G>A	BBS4	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1939366	NM_033028.5(BBS4):c.333-2A>C	BBS4	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome +1 more	GLikely pathogenic
Select item 1803839	NM_033028.5(BBS4):c.460-15T>A	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 4	GUncertain significance
Select item 1700584	NM_033028.5(BBS4):c.220G>A (p.Ala74Thr)	BBS4 (A74T)	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome 4	GPathogenic
Select item 1662619	NM_033028.5(BBS4):c.1170C>T (p.Asn390=)	BBS4	Single nucleotide variant (synonymous variant +1 more)	BBS4-related condition +2 more	GLikely benign
Select item 1625053	NM_033028.5(BBS4):c.712-15G>C	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 1610306	NM_033028.5(BBS4):c.501C>T (p.His167=)	BBS4	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 1584843	NM_033028.5(BBS4):c.712-14T>A	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 1509663	NM_033028.5(BBS4):c.76+18dup	BBS4	Duplication (intron variant)	Bardet-Biedl syndrome 4 +1 more	GLikely benign
Select item 1504738	NM_033028.5(BBS4):c.24+1G>A	BBS4	Single nucleotide variant (splice donor variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely pathogenic
Select item 1495438	NM_033028.5(BBS4):c.1114C>T (p.Pro372Ser)	BBS4 (P372S +2 more)	Single nucleotide variant (missense variant +1 more)	BBS4-related condition +2 more	GUncertain significance
Select item 1487690	NM_033028.5(BBS4):c.1248G>A (p.Glu416=)	BBS4	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 4 +1 more	GUncertain significance
Select item 1481565	NM_033028.5(BBS4):c.233G>A (p.Arg78His)	BBS4 (R78H)	Single nucleotide variant (5 prime UTR variant +2 more)	BBS4-related condition +2 more	GUncertain significance
Select item 1461678	NM_033028.5(BBS4):c.1107-11G>C	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 4 +1 more	GLikely benign
Select item 1448820	NM_033028.5(BBS4):c.1171G>A (p.Ala391Thr)	BBS4 (A219T +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 4 +2 more	GUncertain significance
Select item 1434535	NM_033028.5(BBS4):c.1554_1555del (p.Lys519fs)	BBS4 (K347fs +2 more)	Microsatellite (frameshift variant +1 more)	Bardet-Biedl syndrome 4 +1 more	GUncertain significance
Select item 1392341	NM_033028.5(BBS4):c.760G>A (p.Val254Ile)	BBS4 (V82I +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1386617	NM_033028.5(BBS4):c.1193T>C (p.Met398Thr)	BBS4 (M226T +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +3 more	GUncertain significance
Select item 1385639	NM_033028.5(BBS4):c.153C>T (p.Cys51=)	BBS4	Single nucleotide variant (non-coding transcript variant +2 more)	Bardet-Biedl syndrome 4 +1 more	GConflicting classifications of pathogenicity
Select item 1356447	NM_033028.5(BBS4):c.1073A>G (p.Lys358Arg)	BBS4 (K186R +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 4 +1 more	GUncertain significance
Select item 1350872	NM_033028.5(BBS4):c.799C>G (p.Pro267Ala)	BBS4 (P244A +2 more)	Single nucleotide variant (missense variant +1 more)	BBS4-related condition +3 more	GUncertain significance
Select item 1339322	NM_033028.5(BBS4):c.1232T>C (p.Leu411Pro)	BBS4 (L239P +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1324345	NM_033028.5(BBS4):c.1311_1312insT (p.Lys438Ter)	BBS4 (K266* +2 more)	Insertion (non-coding transcript variant +1 more)	Bardet-Biedl syndrome 4 +1 more	GPathogenic/Likely pathogenic
Select item 1297144	NM_033028.5(BBS4):c.864+1G>C	BBS4	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 1209985	NM_033028.5(BBS4):c.777_778del (p.Tyr259_Arg260delinsTer)	BBS4	Deletion (nonsense +1 more)	Retinitis pigmentosa +2 more	GPathogenic/Likely pathogenic
Select item 1192380	NM_033028.5(BBS4):c.1248+68G>A	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 4	GBenign
Select item 1192379	NM_033028.5(BBS4):c.1036+114G>A	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 4	GBenign
Select item 1192378	NM_033028.5(BBS4):c.643-102T>C	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 4	GBenign
Select item 1179106	NM_033028.5(BBS4):c.1318_1321del (p.Val440fs)	BBS4 (V268fs +2 more)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1179101	NM_033028.5(BBS4):c.1375C>T (p.Gln459Ter)	BBS4 (Q287* +2 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1172704	NM_033028.5(BBS4):c.187C>T (p.Gln63Ter)	BBS4 (Q63*)	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 1167244	NM_033028.5(BBS4):c.460-20T>C	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 4 +1 more	GBenign/Likely benign
Select item 1153126	NM_033028.5(BBS4):c.24+18C>G	BBS4	Single nucleotide variant (non-coding transcript variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 1134924	NM_033028.5(BBS4):c.408G>A (p.Glu136=)	BBS4	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome 4 +1 more	GLikely benign
Select item 1128127	NM_033028.5(BBS4):c.157-19A>G	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 4 +1 more	GLikely benign
Select item 1087723	NM_033028.5(BBS4):c.1311C>G (p.Thr437=)	BBS4	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 1086700	NM_033028.5(BBS4):c.643-6T>C	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 4 +1 more	GLikely benign
Select item 1078540	NM_033028.5(BBS4):c.928T>C (p.Leu310=)	BBS4	Single nucleotide variant (synonymous variant +1 more)	BBS4-related condition +2 more	GLikely benign
Select item 1075982	NM_033028.5(BBS4):c.929del (p.Leu310fs)	BBS4 (L138fs +2 more)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1068712	NM_033028.5(BBS4):c.1248+2T>C	BBS4	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 4 +1 more	GPathogenic/Likely pathogenic
Select item 1067554	NM_033028.5(BBS4):c.24+1G>T	BBS4	Single nucleotide variant (non-coding transcript variant +1 more)	Bardet-Biedl syndrome 4 +1 more	GLikely pathogenic
Select item 1063389	NM_033028.5(BBS4):c.437T>C (p.Ile146Thr)	BBS4 (I146T)	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1061182	NM_033028.5(BBS4):c.428T>A (p.Val143Asp)	BBS4 (V143D)	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1059720	NM_033028.5(BBS4):c.1390T>C (p.Ser464Pro)	BBS4 (S292P +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1051639	NM_033028.5(BBS4):c.1248G>C (p.Glu416Asp)	BBS4 (E244D +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1042055	NM_033028.5(BBS4):c.1394A>G (p.Asn465Ser)	BBS4 (N293S +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1027267	NM_033028.5(BBS4):c.1493del (p.Pro498fs)	BBS4 (P326fs +2 more)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1022615	NM_033028.5(BBS4):c.439T>A (p.Tyr147Asn)	BBS4 (Y147N)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +2 more	GUncertain significance
Select item 1017314	NM_033028.5(BBS4):c.65G>A (p.Arg22Gln)	BBS4 (R22Q)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 1012856	NM_033028.5(BBS4):c.332+2_332+3insTT	BBS4	Insertion (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1001626	NM_033028.5(BBS4):c.697C>G (p.Pro233Ala)	BBS4 (P233A +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 966386	NM_033028.5(BBS4):c.1084G>A (p.Ala362Thr)	BBS4 (A362T +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 961935	NM_033028.5(BBS4):c.1161GAA[2] (p.Lys389del)	BBS4 (K217del +2 more)	Microsatellite (inframe_deletion +1 more)	BBS4-related condition +3 more	GUncertain significance
Select item 961188	NM_033028.5(BBS4):c.1223A>G (p.Asn408Ser)	BBS4 (N236S +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 957617	NM_033028.5(BBS4):c.923A>G (p.Tyr308Cys)	BBS4 (Y308C +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 956251	NM_033028.5(BBS4):c.1013G>T (p.Gly338Val)	BBS4 (G338V +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 956007	NM_033028.5(BBS4):c.379G>A (p.Ala127Thr)	BBS4 (A127T)	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome 4 +1 more	GUncertain significance
Select item 943355	NM_033028.5(BBS4):c.80C>T (p.Pro27Leu)	BBS4 (P27L)	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome +1 more	GUncertain significance

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