C1859568[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 406221	NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer)	BBS10	Deletion (nonsense)	Bardet-Biedl syndrome 10 +3 more	GPathogenic/Likely pathogenic
Select item 551976	NM_024685.4(BBS10):c.2077C>T (p.Gln693Ter)	BBS10 (Q693*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 550617	NM_024685.4(BBS10):c.2065A>C (p.Thr689Pro)	BBS10 (T689P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 556116	NM_024685.4(BBS10):c.2030G>T (p.Gly677Val)	BBS10 (G677V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 423236	NM_024685.4(BBS10):c.2030del (p.Gly677fs)	BBS10 (G677fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome +2 more	GPathogenic/Likely pathogenic
Select item 370612	NM_024685.4(BBS10):c.1959del (p.Pro655fs)	BBS10 (P655fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10 +1 more	GPathogenic/Likely pathogenic
Select item 551979	NM_024685.4(BBS10):c.1952del (p.Lys651fs)	BBS10 (K651fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 550352	NM_024685.4(BBS10):c.1949del (p.Gly650fs)	BBS10 (G650fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
Select item 195379	NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys)	BBS10 (Y613C)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +2 more	GConflicting classifications of pathogenicity
Select item 551437	NM_024685.4(BBS10):c.1829T>G (p.Leu610Ter)	BBS10 (L610*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 550991	NM_024685.4(BBS10):c.1807G>A (p.Gly603Ser)	BBS10 (G603S)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 370772	NM_024685.4(BBS10):c.1724del (p.Pro575fs)	BBS10 (P575fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10 +1 more	GPathogenic/Likely pathogenic
Select item 556833	NM_024685.4(BBS10):c.1687C>T (p.Gln563Ter)	BBS10 (Q563*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 496471	NM_024685.4(BBS10):c.1677del (p.Ser558_Tyr559insTer)	BBS10	Deletion (nonsense)	Bardet-Biedl syndrome +2 more	GPathogenic
Select item 371499	NM_024685.4(BBS10):c.1677C>G (p.Tyr559Ter)	BBS10 (Y559*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 10 +1 more	GPathogenic
Select item 370664	NM_024685.4(BBS10):c.1664_1668del (p.Ile555fs)	BBS10 (I555fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 188992	NM_024685.4(BBS10):c.1599_1602del (p.Thr534fs)	BBS10 (T534fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10 +1 more	GPathogenic/Likely pathogenic
Select item 371134	NM_024685.4(BBS10):c.1542del (p.Asp515fs)	BBS10 (D515fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10 +1 more	GPathogenic/Likely pathogenic
Select item 554393	NM_024685.4(BBS10):c.1538dup (p.Thr514fs)	BBS10 (T514fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 370368	NM_024685.4(BBS10):c.1533del (p.Thr512fs)	BBS10 (T512fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 288255	NM_024685.4(BBS10):c.1510_1511del (p.Ile504fs)	BBS10 (I504fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome +2 more	GPathogenic
Select item 550826	NM_024685.4(BBS10):c.1491delinsGA (p.Asp497fs)	BBS10 (D497fs)	Indel (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 189107	NM_024685.4(BBS10):c.1448_1452del (p.Thr483fs)	BBS10 (T483fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 556979	NM_024685.4(BBS10):c.1447dup (p.Thr483fs)	BBS10 (T483fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 10 +1 more	GPathogenic/Likely pathogenic
Select item 558606	NM_024685.4(BBS10):c.1408del (p.Gln470fs)	BBS10 (Q470fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 370512	NM_024685.4(BBS10):c.1391C>G (p.Ser464Ter)	BBS10 (S464*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 10 +1 more	GPathogenic/Likely pathogenic
Select item 555496	NM_024685.4(BBS10):c.1337_1342del (p.Phe446_Ile447del)	BBS10	Deletion (inframe_deletion)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 552465	NM_024685.4(BBS10):c.1338del (p.Phe446fs)	BBS10 (F446fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 166722	NM_024685.4(BBS10):c.1264C>T (p.Arg422Trp)	BBS10 (R422W)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 371290	NM_024685.4(BBS10):c.1236_1248del (p.Asp412fs)	BBS10 (D412fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10 +1 more	GPathogenic/Likely pathogenic
Select item 558108	NM_024685.4(BBS10):c.1244del (p.His415fs)	BBS10 (H415fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 188943	NM_024685.4(BBS10):c.1241T>C (p.Leu414Ser)	BBS10 (L414S)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10 +2 more	GPathogenic/Likely pathogenic
Select item 371354	NM_024685.4(BBS10):c.1190_1191del (p.Ile397fs)	BBS10 (I397fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 553858	NM_024685.4(BBS10):c.1187_1188del (p.Ser396fs)	BBS10 (S396fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 188941	NM_024685.4(BBS10):c.1184dup (p.His395fs)	BBS10 (H395fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 551765	NM_024685.4(BBS10):c.1143_1147dup (p.His383fs)	BBS10 (H383fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 216764	NM_024685.4(BBS10):c.1144G>T (p.Val382Phe)	BBS10 (V382F)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 556154	NM_024685.4(BBS10):c.1122dup (p.Ile375fs)	BBS10 (I375fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 166723	NM_024685.4(BBS10):c.1091del (p.Asn364fs)	BBS10 (N364fs)	Deletion	Bardet-Biedl syndrome 10 +3 more	GPathogenic/Likely pathogenic
Select item 550777	NM_024685.4(BBS10):c.1064del (p.Gln355fs)	BBS10 (Q355fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 370605	NM_024685.4(BBS10):c.1056del (p.Pro353fs)	BBS10 (P353fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 370624	NM_024685.4(BBS10):c.1024del (p.Ile342fs)	BBS10 (I342fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 371089	NM_024685.4(BBS10):c.1012_1013del (p.Glu338fs)	BBS10 (E338fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 552848	NM_024685.4(BBS10):c.1003TCA[1] (p.Ser336del)	BBS10 (S336del)	Microsatellite (inframe_deletion)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 553371	NM_024685.4(BBS10):c.1007C>G (p.Ser336Ter)	BBS10 (S336*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 554851	NM_024685.4(BBS10):c.1000_1001insGA (p.Leu334Ter)	BBS10 (L334*)	Insertion (nonsense)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 266102	NM_024685.4(BBS10):c.959_962del (p.Ser320fs)	BBS10 (S320fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome 10 +1 more	GPathogenic/Likely pathogenic
Select item 432013	NM_024685.4(BBS10):c.909_912del (p.Ser303fs)	BBS10 (S303fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10 +2 more	GPathogenic
Select item 370877	NM_024685.4(BBS10):c.858_859dup (p.Gln287fs)	BBS10 (Q287fs)	Microsatellite (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 551120	NM_024685.4(BBS10):c.850C>T (p.Gln284Ter)	BBS10 (Q284*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 550936	NM_024685.4(BBS10):c.784_785del (p.Glu262fs)	BBS10 (E262fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10	GPathogenic/Likely pathogenic
Select item 551609	NM_024685.4(BBS10):c.766C>T (p.Arg256Ter)	BBS10, OSBPL8 (R256*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 10 +1 more	GPathogenic/Likely pathogenic
Select item 235677	NM_024685.4(BBS10):c.765G>A (p.Met255Ile)	BBS10 (M255I)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 553599	NM_024685.4(BBS10):c.745_746insTA (p.Arg249fs)	BBS10 (R249fs)	Insertion (frameshift variant)	Bardet-Biedl syndrome 10	GConflicting classifications of pathogenicity
Select item 189071	NM_024685.4(BBS10):c.728_731del (p.Lys243fs)	BBS10 (K243fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 216123	NM_024685.4(BBS10):c.687del (p.Val230fs)	BBS10 (V230fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10 +2 more	GPathogenic
Select item 371326	NM_024685.4(BBS10):c.574C>T (p.Gln192Ter)	BBS10 (Q192*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 10 +1 more	GPathogenic/Likely pathogenic
Select item 370142	NM_024685.4(BBS10):c.568_571del (p.Ile190fs)	BBS10 (I190fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 488381	NM_024685.4(BBS10):c.539G>A (p.Gly180Glu)	BBS10 (G180E)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10 +1 more	GPathogenic/Likely pathogenic
Select item 550789	NM_024685.4(BBS10):c.537T>A (p.Cys179Ter)	BBS10 (C179*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 557983	NM_024685.4(BBS10):c.534_535del (p.Phe178fs)	BBS10 (F178fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 216124	NM_024685.4(BBS10):c.531C>A (p.Tyr177Ter)	BBS10 (Y177*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 10 +1 more	GPathogenic/Likely pathogenic
Select item 556508	NM_024685.4(BBS10):c.530A>G (p.Tyr177Cys)	BBS10 (Y177C)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 553141	NM_024685.4(BBS10):c.414del (p.Gln139fs)	BBS10 (Q139fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 370771	NM_024685.4(BBS10):c.378G>A (p.Trp126Ter)	BBS10 (W126*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 371651	NM_024685.4(BBS10):c.365dup (p.Asn122fs)	BBS10 (N122fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 10 +1 more	GPathogenic/Likely pathogenic
Select item 370109	NM_024685.4(BBS10):c.361A>T (p.Lys121Ter)	BBS10 (K121*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 555301	NM_024685.4(BBS10):c.320del (p.Pro107fs)	BBS10 (P107fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 370703	NM_024685.4(BBS10):c.299_305del (p.Ile100fs)	BBS10 (I100fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 554276	NM_024685.4(BBS10):c.251_257dup (p.Phe86fs)	BBS10 (F86fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 554591	NM_024685.4(BBS10):c.235dup (p.Thr79fs)	BBS10 (T79fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 10 +3 more	GPathogenic/Likely pathogenic
Select item 370911	NM_024685.4(BBS10):c.214_215dup (p.Ser73fs)	BBS10 (S73fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 371142	NM_024685.4(BBS10):c.214_215del (p.Val72fs)	BBS10 (V72fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 556578	NM_024685.4(BBS10):c.198-1G>C	BBS10	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 283884	NM_024685.4(BBS10):c.197+1G>T	BBS10	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome +2 more	GPathogenic/Likely pathogenic
Select item 225010	NM_024685.4(BBS10):c.145C>T (p.Arg49Trp)	BBS10 (R49W)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +9 more	GPathogenic/Likely pathogenic
Select item 556792	NM_024685.4(BBS10):c.130G>T (p.Glu44Ter)	BBS10 (E44*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 552187	NM_024685.4(BBS10):c.118A>T (p.Lys40Ter)	BBS10 (K40*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 1329	NM_024685.4(BBS10):c.101G>C (p.Arg34Pro)	BBS10 (R34P)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 432908	NM_024685.4(BBS10):c.83_84delinsAG (p.Cys28Ter)	BBS10 (C28*)	Indel (nonsense)	not provided	GPathogenic
Select item 554291	NM_024685.4(BBS10):c.27_37del (p.Ser10fs)	BBS10 (S10fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10 +1 more	GPathogenic/Likely pathogenic
Select item 1332	NM_024685.4(BBS10):c.32T>G (p.Val11Gly)	BBS10 (V11G)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 502118	NM_024685.4(BBS10):c.2T>C (p.Met1Thr)	BBS10 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance

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Items: 83