ClinVar for MedGen (Select 422453) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068092	NM_031885.5(BBS2):c.118-2A>G	BBS2	Single nucleotide variant (splice acceptor variant)	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 2680028	NM_031885.5(BBS2):c.534+2T>C	BBS2	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 2	GLikely pathogenic
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 2680026	NM_031885.5(BBS2):c.346-1G>C	BBS2	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 2	GLikely pathogenic
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 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 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 2680022	NM_031885.5(BBS2):c.118-2A>C	BBS2	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 2 +1 more	GLikely 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 2680020	NM_031885.5(BBS2):c.535-1G>A	BBS2	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 2 +1 more	GLikely 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 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 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 2680016	NM_031885.5(BBS2):c.406dup (p.Ala136fs)	BBS2 (A136fs)	Duplication (frameshift variant +1 more)	Bardet-Biedl syndrome 2	GLikely 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 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 2680013	NM_031885.5(BBS2):c.653G>A (p.Gly218Asp)	BBS2 (G218D)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 2	GLikely 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 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 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 2680009	NM_031885.5(BBS2):c.2059+1del	BBS2	Deletion (splice donor variant)	Bardet-Biedl syndrome 2	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 2680007	NM_031885.5(BBS2):c.1225+2dup	BBS2	Duplication (splice donor variant)	Bardet-Biedl syndrome 2	GLikely 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 2628019	NM_031885.5(BBS2):c.421_423del (p.Asn141del)	BBS2 (N141del)	Deletion (inframe_deletion +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 2627758	NM_000132.4(F8):c.1847A>G (p.Asn616Ser)	F8 (N616S)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 2	GUncertain significance
Select item 2585264	NM_031885.5(BBS2):c.313_314insCCC (p.Val105delinsAlaLeu)	BBS2	Insertion (inframe_indel +1 more)	Bardet-Biedl syndrome 2	GUncertain significance
Select item 2502268	NM_018233.4(OGFOD1):c.1467+11_1467+13del	BBS2, OGFOD1	Microsatellite (intron variant)	Bardet-Biedl syndrome 2 +1 more	GUncertain significance
Select item 2500754	NM_031885.5(BBS2):c.1690G>T (p.Ala564Ser)	BBS2 (A564S)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 2	GUncertain significance
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 1997192	NM_031885.5(BBS2):c.1225+2T>C	BBS2	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 2 +1 more	GLikely pathogenic
Select item 1726852	NM_031885.5(BBS2):c.1273_1274insAACTGGAGAGGTT (p.Gly425fs)	BBS2 (G425fs)	Insertion (frameshift variant +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 1726757	NM_031885.5(BBS2):c.802A>T (p.Lys268Ter)	BBS2 (K268*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 1726668	NM_031885.5(BBS2):c.1353_1354insTCAGTTTTGTCATCTTT (p.Pro452fs)	BBS2 (P452fs)	Insertion (frameshift variant +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 1726503	NM_031885.5(BBS2):c.1747G>T (p.Glu583Ter)	BBS2 (E583*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 1726460	NM_031885.5(BBS2):c.784dup (p.Thr262fs)	BBS2 (T262fs)	Duplication (frameshift variant +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 1726373	NM_031885.5(BBS2):c.766G>T (p.Gly256Ter)	BBS2 (G256*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 1726299	NM_031885.5(BBS2):c.1654_1655insCT (p.Gly552fs)	BBS2 (G552fs)	Insertion (frameshift variant +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 1726040	NM_031885.5(BBS2):c.309_310insCACA (p.Asp104fs)	BBS2 (D104fs)	Insertion (frameshift variant +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 1725966	NM_031885.5(BBS2):c.1700del (p.Ile567fs)	BBS2 (I567fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 1725865	NM_031885.5(BBS2):c.691A>T (p.Lys231Ter)	BBS2 (K231*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 1725856	NM_031885.5(BBS2):c.619_620del (p.Thr207fs)	BBS2 (T207fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 1725707	NM_031885.5(BBS2):c.1461del (p.Ser488fs)	BBS2 (S488fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 1725669	NM_031885.5(BBS2):c.491_501del (p.Asn164fs)	BBS2 (N164fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 1725510	NM_031885.5(BBS2):c.1245_1261del (p.Leu416fs)	BBS2 (L416fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 1725392	NM_031885.5(BBS2):c.1260_1262delinsTGTGTAT (p.Glu420fs)	BBS2 (E420fs)	Indel (frameshift variant +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 1725258	NM_031885.5(BBS2):c.1795_1796del (p.Lys599fs)	BBS2 (K599fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 1724761	NM_031885.5(BBS2):c.1088T>A (p.Leu363Ter)	BBS2 (L363*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 1724748	NM_031885.5(BBS2):c.1502_1503del (p.Phe501fs)	BBS2 (F501fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 1723908	NM_031885.5(BBS2):c.1313_1314insT (p.Ser439fs)	BBS2 (S439fs)	Insertion (frameshift variant +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 1687170	NM_031885.5(BBS2):c.404T>A (p.Leu135His)	BBS2 (L135H)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 2	GUncertain significance
Select item 1683725	NM_031885.5(BBS2):c.1544del (p.Gly515fs)	BBS2 (G515fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 1651952	NM_031885.5(BBS2):c.216C>T (p.Asn72=)	BBS2	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 74 +2 more	GLikely benign
Select item 1617303	NM_031885.5(BBS2):c.612+17C>T	BBS2	Single nucleotide variant (intron variant)	Retinitis pigmentosa 74 +2 more	GLikely benign
Select item 1598557	NM_031885.5(BBS2):c.1080+14C>T	BBS2	Single nucleotide variant (intron variant)	Retinitis pigmentosa 74 +2 more	GBenign/Likely benign
Select item 1581963	NM_031885.5(BBS2):c.612+18G>A	BBS2	Single nucleotide variant (intron variant)	Retinitis pigmentosa 74 +2 more	GLikely benign
Select item 1574194	NM_031885.5(BBS2):c.1845T>C (p.Ala615=)	BBS2	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +2 more	GLikely benign
Select item 1570394	NM_031885.5(BBS2):c.810T>C (p.Asp270=)	BBS2	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +2 more	GLikely benign
Select item 1568366	NM_031885.5(BBS2):c.1528-15G>T	BBS2	Single nucleotide variant (non-coding transcript variant +1 more)	Bardet-Biedl syndrome +2 more	GLikely benign
Select item 1565865	NM_031885.5(BBS2):c.941-11C>T	BBS2	Single nucleotide variant (intron variant)	Retinitis pigmentosa 74 +2 more	GLikely benign
Select item 1565088	NM_031885.5(BBS2):c.117+17G>T	BBS2	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 2 +2 more	GLikely benign
Select item 1560386	NM_031885.5(BBS2):c.1797+13G>A	BBS2	Single nucleotide variant (intron variant)	Retinitis pigmentosa 74 +2 more	GLikely benign
Select item 1543605	NM_031885.5(BBS2):c.534+20T>C	BBS2	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +2 more	GLikely benign
Select item 1537691	NM_031885.5(BBS2):c.342A>G (p.Arg114=)	BBS2	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +2 more	GLikely benign
Select item 1519024	NM_031885.5(BBS2):c.1543G>T (p.Gly515Cys)	BBS2 (G515C)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1513973	NM_031885.5(BBS2):c.61A>G (p.Ile21Val)	BBS2 (I21V)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 74 +2 more	GUncertain significance
Select item 1512135	NM_031885.5(BBS2):c.1439G>A (p.Arg480Gln)	BBS2 (R480Q)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 74 +2 more	GUncertain significance
Select item 1497114	NM_031885.5(BBS2):c.1713G>A (p.Met571Ile)	BBS2 (M571I)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 74 +3 more	GUncertain significance
Select item 1487151	NM_031885.5(BBS2):c.2095C>T (p.Arg699Trp)	BBS2 (R699W)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 2 +2 more	GUncertain significance
Select item 1452464	NM_031885.5(BBS2):c.612+14C>G	BBS2	Single nucleotide variant (intron variant)	Retinitis pigmentosa 74 +2 more	GLikely benign
Select item 1423857	NM_031885.5(BBS2):c.722A>C (p.Lys241Thr)	BBS2 (K241T)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 2 +3 more	GUncertain significance
Select item 1406160	NM_031885.5(BBS2):c.320A>G (p.Asn107Ser)	BBS2 (N107S)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 2 +2 more	GUncertain significance
Select item 1391874	NM_031885.5(BBS2):c.941-20G>A	BBS2	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 1384724	NM_031885.5(BBS2):c.1208G>T (p.Arg403Leu)	BBS2 (R403L)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 1384369	NM_031885.5(BBS2):c.1190C>T (p.Thr397Ile)	BBS2 (T397I)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 74 +2 more	GUncertain significance
Select item 1383190	NM_031885.5(BBS2):c.974G>A (p.Arg325Lys)	BBS2 (R325K)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 1378633	NM_031885.5(BBS2):c.255del (p.Glu86fs)	BBS2 (E86fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1367251	NM_031885.5(BBS2):c.256_278dup (p.Val94fs)	BBS2 (V94fs)	Duplication (frameshift variant +1 more)	Bardet-Biedl syndrome +1 more	GPathogenic
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 1339082	NM_031885.5(BBS2):c.1527+1G>A	BBS2	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome +1 more	GLikely pathogenic
Select item 1337986	NM_031885.5(BBS2):c.-2T>G	BBS2	Single nucleotide variant (5 prime UTR variant +1 more)	BBS2-related condition +4 more	GConflicting classifications of pathogenicity
Select item 1312070	NM_031885.5(BBS2):c.380C>G (p.Thr127Arg)	BBS2 (T127R)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 2 +5 more	GUncertain significance
Select item 1210364	NM_031885.5(BBS2):c.1725del (p.Phe575fs)	BBS2 (F575fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 2	GLikely pathogenic
Select item 1195903	NM_031885.5(BBS2):c.1169G>T (p.Ser390Ile)	BBS2 (S390I)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 2 +1 more	GUncertain significance
Select item 1195902	NM_031885.5(BBS2):c.1973A>G (p.Tyr658Cys)	BBS2 (Y658C)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 74 +2 more	GUncertain significance
Select item 1195901	NM_031885.5(BBS2):c.2144G>A (p.Arg715Gln)	BBS2 (R715Q)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 2 +2 more	GUncertain significance
Select item 1179137	NM_024753.5(TTC21B):c.264_267dupTAGA	TTC21B, TTC21B-AS1	Duplication (splice acceptor variant)	Jeune thoracic dystrophy +3 more	GPathogenic
Select item 1172737	NM_031885.5(BBS2):c.613-54C>G	BBS2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1158343	NM_031885.5(BBS2):c.1623C>T (p.Gly541=)	BBS2	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +2 more	GLikely benign
Select item 1153892	NM_031885.5(BBS2):c.941-8C>G	BBS2	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 2 +2 more	GLikely benign
Select item 1141547	NM_031885.5(BBS2):c.117+7G>A	BBS2	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +3 more	GLikely benign
Select item 1139300	NM_031885.5(BBS2):c.941-6G>A	BBS2	Single nucleotide variant (intron variant)	Retinitis pigmentosa 74 +2 more	GLikely benign
Select item 1132717	NM_031885.5(BBS2):c.471+17A>G	BBS2	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 2 +2 more	GLikely benign
Select item 1132265	NM_031885.5(BBS2):c.1413A>G (p.Val471=)	BBS2	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 2 +2 more	GLikely benign
Select item 1128119	NM_031885.5(BBS2):c.2059+12_2059+13del	BBS2	Deletion (intron variant)	Bardet-Biedl syndrome 2 +2 more	GLikely benign
Select item 1116418	NM_031885.5(BBS2):c.1530T>G (p.Val510=)	BBS2	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +2 more	GLikely benign
Select item 1076595	NM_031885.5(BBS2):c.1649_1650del (p.Leu550fs)	BBS2 (L550fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1071242	NM_031885.5(BBS2):c.437del (p.Gly146fs)	BBS2 (G146fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1070027	NM_031885.5(BBS2):c.613-1G>C	BBS2	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome	GPathogenic

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