"Baylor Genetics"[submitter] AND "BBS2"[gene] - ClinVar

Search results

Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 496478	NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter)	BBS2 (R703*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome +3 more	GPathogenic/Likely pathogenic
Select item 3240886	NM_031885.5(BBS2):c.2077del (p.Gln693fs)	BBS2 (Q693fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 2680009	NM_031885.5(BBS2):c.2059+1del	BBS2	Deletion (splice donor variant)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 558537	NM_031885.5(BBS2):c.2038C>T (p.Gln680Ter)	BBS2 (Q680*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 943913	NM_031885.5(BBS2):c.1986dup (p.Asn663Ter)	BBS2 (N663*)	Duplication (nonsense +1 more)	Bardet-Biedl syndrome 2 +2 more	GPathogenic/Likely pathogenic
Select item 554529	NM_031885.5(BBS2):c.1969G>T (p.Gly657Ter)	BBS2 (G657*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 2 +1 more	GPathogenic/Likely pathogenic
Select item 554565	NM_031885.5(BBS2):c.1946_1952del (p.Asp649fs)	BBS2 (D649fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 2 +1 more	GPathogenic/Likely pathogenic
Select item 2680010	NM_031885.5(BBS2):c.1944T>A (p.Tyr648Ter)	BBS2 (Y648*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 969600	NM_031885.5(BBS2):c.1931dup (p.Tyr644Ter)	BBS2 (Y644*)	Duplication (nonsense +1 more)	Bardet-Biedl syndrome 2 +1 more	GPathogenic/Likely pathogenic
Select item 3240881	NM_031885.5(BBS2):c.1910+1G>A	BBS2	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 4578	NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro)	BBS2 (R632P)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +7 more	GPathogenic
Select item 284737	NM_031885.5(BBS2):c.1864C>T (p.Arg622Ter)	BBS2 (R622*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome +3 more	GPathogenic/Likely pathogenic
Select item 838085	NM_031885.5(BBS2):c.1843dup (p.Ala615fs)	BBS2 (A615fs)	Duplication (frameshift variant +1 more)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 553335	NM_031885.5(BBS2):c.1814C>G (p.Ser605Ter)	BBS2 (S605*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 2 +2 more	GPathogenic/Likely pathogenic
Select item 2680023	NM_031885.5(BBS2):c.1794dup (p.Lys599Ter)	BBS2 (K599*)	Duplication (non-coding transcript variant +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 550489	NM_031885.5(BBS2):c.1780C>T (p.Arg594Ter)	BBS2 (R594*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 2 +2 more	GPathogenic/Likely pathogenic
Select item 35755	NM_031885.5(BBS2):c.1770del (p.Phe590fs)	BBS2 (F590fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 2 +2 more	GPathogenic/Likely pathogenic
Select item 1339335	NM_031885.5(BBS2):c.1762_1765del (p.Val588fs)	BBS2 (V588fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2680012	NM_031885.5(BBS2):c.1725dup (p.Ala576fs)	BBS2 (A576fs)	Duplication (frameshift variant +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 551008	NM_031885.5(BBS2):c.1705C>T (p.Gln569Ter)	BBS2 (Q569*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 2 +1 more	GPathogenic
Select item 2680017	NM_031885.5(BBS2):c.1594C>T (p.Gln532Ter)	BBS2 (Q532*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 836947	NM_031885.5(BBS2):c.1486_1489del (p.Ile496fs)	BBS2 (I496fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 2680014	NM_031885.5(BBS2):c.1453_1456dup (p.Leu486fs)	BBS2 (L486fs)	Microsatellite (frameshift variant +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 553353	NM_031885.5(BBS2):c.1438C>T (p.Arg480Ter)	BBS2 (R480*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 2 +2 more	GPathogenic/Likely pathogenic
Select item 2064812	NM_031885.5(BBS2):c.1397+2T>C	BBS2	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome +1 more	GLikely pathogenic
Select item 2680008	NM_031885.5(BBS2):c.1355del (p.Pro452fs)	BBS2 (P452fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 2680024	NM_031885.5(BBS2):c.1310_1344del (p.Leu437fs)	BBS2 (L437fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 636152	NM_031885.5(BBS2):c.1290dup (p.His431fs)	BBS2 (H431fs)	Duplication (frameshift variant +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 3240884	NM_031885.5(BBS2):c.1269del (p.Phe423fs)	BBS2 (F423fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 370943	NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter)	BBS2 (R413*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 2 +4 more	GPathogenic/Likely pathogenic
Select item 2680007	NM_031885.5(BBS2):c.1225+2dup	BBS2	Duplication (splice donor variant)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 3240880	NM_031885.5(BBS2):c.1225+2T>G	BBS2	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 1997192	NM_031885.5(BBS2):c.1225+2T>C	BBS2	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome +1 more	GLikely pathogenic
Select item 928684	NM_031885.5(BBS2):c.1206dup (p.Arg403fs)	BBS2 (R403fs)	Duplication (frameshift variant +1 more)	Bardet-Biedl syndrome 2 +1 more	GPathogenic/Likely pathogenic
Select item 977697	NM_031885.5(BBS2):c.1166_1169del (p.Val389fs)	BBS2 (V389fs)	Microsatellite (frameshift variant +1 more)	Bardet-Biedl syndrome 2 +1 more	GLikely pathogenic
Select item 3240885	NM_031885.5(BBS2):c.1163C>G (p.Ser388Ter)	BBS2 (S388*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 591165	NM_031885.5(BBS2):c.1112del (p.Asp371fs)	BBS2 (D371fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 193747	NM_031885.5(BBS2):c.1099dup (p.Leu367fs)	BBS2 (L367fs)	Duplication (frameshift variant +1 more)	Bardet-Biedl syndrome 2 +1 more	GPathogenic/Likely pathogenic
Select item 984003	NM_031885.5(BBS2):c.1066G>T (p.Glu356Ter)	BBS2 (E356*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 2680018	NM_031885.5(BBS2):c.1027C>T (p.Gln343Ter)	BBS2 (Q343*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 35754	NM_031885.5(BBS2):c.1015C>T (p.Arg339Ter)	BBS2 (R339*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome +2 more	GPathogenic/Likely pathogenic
Select item 3240883	NM_031885.5(BBS2):c.975_985del (p.Arg325fs)	BBS2 (R325fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 4573	NM_031885.5(BBS2):c.943C>T (p.Arg315Trp)	BBS2 (R315W)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GPathogenic
Select item 2680027	NM_031885.5(BBS2):c.941-1G>A	BBS2	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 556737	NM_031885.5(BBS2):c.941-1G>T	BBS2	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2680015	NM_031885.5(BBS2):c.940+1G>A	BBS2	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 557954	NM_031885.5(BBS2):c.940+1del	BBS2	Deletion (splice donor variant)	Bardet-Biedl syndrome +1 more	GLikely pathogenic
Select item 4568	NM_031885.5(BBS2):c.940del (p.Ile314fs)	BBS2 (I314fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 2	GPathogenic
Select item 4572	NM_031885.5(BBS2):c.823C>T (p.Arg275Ter)	BBS2 (R275*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome +4 more	GPathogenic/Likely pathogenic
Select item 552219	NM_031885.5(BBS2):c.814C>T (p.Arg272Ter)	BBS2 (R272*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 2 +4 more	GPathogenic
Select item 3240887	NM_031885.5(BBS2):c.791G>A (p.Trp264Ter)	BBS2 (W264*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 942600	NM_031885.5(BBS2):c.718-2A>C	BBS2	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 2 +1 more	GPathogenic/Likely pathogenic
Select item 552231	NM_031885.5(BBS2):c.717+2T>G	BBS2	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 2 +1 more	GPathogenic/Likely pathogenic
Select item 553071	NM_031885.5(BBS2):c.717+1G>A	BBS2	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 2 +2 more	GPathogenic/Likely pathogenic
Select item 554001	NM_031885.5(BBS2):c.700C>T (p.Arg234Ter)	BBS2 (R234*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 2 +3 more	GPathogenic
Select item 208564	NM_031885.5(BBS2):c.661del (p.Leu221fs)	BBS2 (L221fs)	Deletion (frameshift variant +1 more)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 2680013	NM_031885.5(BBS2):c.653G>A (p.Gly218Asp)	BBS2 (G218D)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 2	GConflicting classifications of pathogenicity
Select item 4583	NM_031885.5(BBS2):c.646C>T (p.Arg216Ter)	BBS2 (R216*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 2 +1 more	GPathogenic
Select item 557486	NM_031885.5(BBS2):c.627_628del (p.Cys210fs)	BBS2 (C210fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 3240882	NM_031885.5(BBS2):c.612+1G>A	BBS2	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 2	GPathogenic
Select item 550801	NM_031885.5(BBS2):c.565C>T (p.Arg189Ter)	BBS2 (R189*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 2 +1 more	GPathogenic
Select item 552531	NM_031885.5(BBS2):c.563del (p.Ile188fs)	BBS2 (I188fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 2 +2 more	GPathogenic/Likely pathogenic
Select item 2680019	NM_031885.5(BBS2):c.559dup (p.Asp187fs)	BBS2 (D187fs)	Duplication (frameshift variant +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 2680020	NM_031885.5(BBS2):c.535-1G>A	BBS2	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome +1 more	GLikely pathogenic
Select item 2680028	NM_031885.5(BBS2):c.534+2T>C	BBS2	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 553927	NM_031885.5(BBS2):c.534+1G>T	BBS2	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 2 +4 more	GPathogenic/Likely pathogenic
Select item 585182	NM_031885.5(BBS2):c.522T>A (p.Asp174Glu)	BBS2 (D174E)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely pathogenic
Select item 191068	NM_031885.5(BBS2):c.508G>A (p.Asp170Asn)	BBS2 (D170N)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 936504	NM_031885.5(BBS2):c.504del (p.Leu168fs)	BBS2 (L168fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 984325	NM_031885.5(BBS2):c.497T>A (p.Leu166Ter)	BBS2 (L166*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 552136	NM_031885.5(BBS2):c.471+1G>A	BBS2	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 2 +1 more	GPathogenic/Likely pathogenic
Select item 551904	NM_031885.5(BBS2):c.471G>A (p.Thr157=)	BBS2	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 939414	NM_031885.5(BBS2):c.440del (p.Phe147fs)	BBS2 (F147fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome +2 more	GPathogenic/Likely pathogenic
Select item 2680016	NM_031885.5(BBS2):c.406dup (p.Ala136fs)	BBS2 (A136fs)	Duplication (frameshift variant +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 209043	NM_031885.5(BBS2):c.401C>G (p.Pro134Arg)	BBS2 (P134R)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +2 more	GPathogenic
Select item 2680025	NM_031885.5(BBS2):c.361_367delinsTTATGCAG (p.Asn121fs)	BBS2 (N121fs)	Indel (frameshift variant +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 2680026	NM_031885.5(BBS2):c.346-1G>C	BBS2	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 1069221	NM_031885.5(BBS2):c.326C>A (p.Ser109Ter)	BBS2 (S109*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 2 +1 more	GPathogenic/Likely pathogenic
Select item 4577	NM_031885.5(BBS2):c.311A>C (p.Asp104Ala)	BBS2 (D104A)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +4 more	GPathogenic
Select item 984328	NM_031885.5(BBS2):c.289C>T (p.Gln97Ter)	BBS2 (Q97*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 2680011	NM_031885.5(BBS2):c.284_285del (p.Gly95fs)	BBS2 (G95fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 2680029	NM_031885.5(BBS2):c.278T>A (p.Leu93Ter)	BBS2 (L93*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 217434	NM_031885.5(BBS2):c.263del (p.Gly88fs)	BBS2 (G88fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 2	GPathogenic
Select item 1378633	NM_031885.5(BBS2):c.255del (p.Glu86fs)	BBS2 (E86fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 2 +1 more	GPathogenic/Likely pathogenic
Select item 557198	NM_031885.5(BBS2):c.241G>T (p.Gly81Cys)	BBS2 (G81C)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 4569	NM_031885.5(BBS2):c.224T>G (p.Val75Gly)	BBS2 (V75G)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2680021	NM_031885.5(BBS2):c.184dup (p.Leu62fs)	BBS2 (L62fs)	Duplication (frameshift variant +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 4571	NM_031885.5(BBS2):c.175C>T (p.Gln59Ter)	BBS2 (Q59*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 2 +3 more	GPathogenic/Likely pathogenic
Select item 2680005	NM_031885.5(BBS2):c.157del (p.Ser53fs)	BBS2 (S53fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 285263	NM_031885.5(BBS2):c.118G>T (p.Val40Phe)	BBS2 (V40F)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2680022	NM_031885.5(BBS2):c.118-2A>C	BBS2	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome +1 more	GLikely pathogenic
Select item 4570	NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter)	BBS2 (Y24*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 74 +3 more	GPathogenic/Likely pathogenic

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Items: 92