ClinVar for MedGen (Select 347182) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064084	NM_198428.3(BBS9):c.1553-1G>A	BBS9	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 2680110	NM_198428.3(BBS9):c.2299-2A>C	BBS9	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 9 +1 more	GLikely pathogenic
Select item 2680107	NM_198428.3(BBS9):c.793G>T (p.Glu265Ter)	BBS9 (E143* +3 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 2680106	NM_198428.3(BBS9):c.1275+1G>A	BBS9	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 2680105	NM_198428.3(BBS9):c.496C>T (p.Gln166Ter)	BBS9 (Q121* +3 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 2680104	NM_198428.3(BBS9):c.1963-1G>T	BBS9	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 2680103	NM_198428.3(BBS9):c.196G>T (p.Glu66Ter)	BBS9 (E21* +1 more)	Single nucleotide variant (nonsense +3 more)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 2680102	NM_198428.3(BBS9):c.1927C>T (p.Gln643Ter)	BBS9 (Q486* +8 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 2680101	NM_198428.3(BBS9):c.1789+1G>C	BBS9	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 9 +1 more	GPathogenic
Select item 2680100	NM_198428.3(BBS9):c.118del (p.Lys39_Ile40insTer)	BBS9	Deletion (nonsense +4 more)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 2680099	NM_198428.3(BBS9):c.1869T>G (p.Tyr623Ter)	BBS9 (Y466* +8 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 2680098	NM_198428.3(BBS9):c.360del (p.Gln120fs)	BBS9 (Q120fs +2 more)	Deletion (frameshift variant +2 more)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 2680097	NM_198428.3(BBS9):c.1694-2A>G	BBS9	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 2680096	NM_198428.3(BBS9):c.1432+2T>G	BBS9	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 2680095	NM_198428.3(BBS9):c.1760_1764del (p.Arg587fs)	BBS9 (R430fs +8 more)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 2680094	NM_198428.3(BBS9):c.2116-2A>T	BBS9	Single nucleotide variant (splice acceptor variant +1 more)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 2680093	NM_198428.3(BBS9):c.1960G>T (p.Glu654Ter)	BBS9 (E497* +8 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 2680092	NM_198428.3(BBS9):c.2412_2415dup (p.Ser806fs)	BBS9 (S623fs +9 more)	Microsatellite (frameshift variant +1 more)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 2680091	NM_198428.3(BBS9):c.434del (p.Gly145fs)	BBS9 (G100fs +3 more)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 9 +1 more	GPathogenic/Likely pathogenic
Select item 2680090	NM_198428.3(BBS9):c.1193C>G (p.Ser398Ter)	BBS9 (S276* +3 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 2680089	NM_198428.3(BBS9):c.998_999insTT (p.Val333_Arg334insTer)	BBS9	Insertion (frameshift variant +2 more)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 2502251	NM_198428.3(BBS9):c.886+7A>G	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2502244	NM_198428.3(BBS9):c.794A>G (p.Glu265Gly)	BBS9 (E143G +3 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 9	GUncertain significance
Select item 2502217	NM_198428.3(BBS9):c.443-37371A>G	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 9	GUncertain significance
Select item 2439482	NM_198428.3(BBS9):c.2527T>C (p.Cys843Arg)	BBS9 (C660R +9 more)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome 9	GUncertain significance
Select item 2413186	NM_198428.3(BBS9):c.2113C>T (p.Gln705Ter)	BBS9 (Q548* +8 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 2055946	NM_198428.3(BBS9):c.966G>A (p.Trp322Ter)	BBS9 (W200* +3 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1984986	NM_198428.3(BBS9):c.1022T>A (p.Leu341Ter)	BBS9 (L219* +3 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1805028	NM_198428.3(BBS9):c.328G>A (p.Gly110Arg)	BBS9 (G110R +2 more)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome 9	GUncertain significance
Select item 1803917	NM_198428.2:c.2115+21712_2521+234del	BBS9	Deletion	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 1803871	NM_198428.3(BBS9):c.2521+951G>T	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 9	GUncertain significance
Select item 1803870	NM_198428.3(BBS9):c.1790-1091A>G	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 9	GUncertain significance
Select item 1701520	NM_198428.3(BBS9):c.1120C>T (p.Arg374Ter)	BBS9 (R252* +3 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 9 +3 more	GPathogenic
Select item 1696049	NM_198428.3(BBS9):c.1277_1280del	BBS9	Deletion (splice acceptor variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1685565	NM_198428.3(BBS9):c.702+1G>A	BBS9	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 9	GPathogenic
Select item 1664359	NM_198428.3(BBS9):c.531C>T (p.Gly177=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 9 +1 more	GLikely benign
Select item 1658044	NM_198428.3(BBS9):c.2633-15T>C	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 1650981	NM_198428.3(BBS9):c.886+14T>G	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 9 +1 more	GLikely benign
Select item 1636914	NM_198428.3(BBS9):c.2115+17dup	BBS9	Duplication (intron variant)	Bardet-Biedl syndrome 9 +1 more	GLikely benign
Select item 1620287	NM_198428.3(BBS9):c.2115+20C>T	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 1617205	NM_198428.3(BBS9):c.1790-7C>T	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 9 +1 more	GLikely benign
Select item 1597837	NM_198428.3(BBS9):c.2487C>T (p.Thr829=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +2 more	GLikely benign
Select item 1576078	NM_198428.3(BBS9):c.2115+19A>G	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 1534205	NM_198428.3(BBS9):c.1377C>T (p.Val459=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +2 more	GLikely benign
Select item 1501963	NM_198428.3(BBS9):c.20G>A (p.Arg7His)	BBS9 (R7H)	Single nucleotide variant (missense variant +3 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 1496041	NM_198428.3(BBS9):c.2294_2296del (p.Glu765_Leu766delinsVal)	BBS9	Deletion (inframe_indel +2 more)	Bardet-Biedl syndrome 9 +1 more	GUncertain significance
Select item 1490103	NM_198428.3(BBS9):c.1111G>A (p.Val371Ile)	BBS9 (V371I +3 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 9 +1 more	GUncertain significance
Select item 1486717	NM_198428.3(BBS9):c.1033A>G (p.Ile345Val)	BBS9 (I300V +3 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1485492	NM_198428.3(BBS9):c.833G>A (p.Arg278Gln)	BBS9 (R278Q +3 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1483412	NM_198428.3(BBS9):c.1245C>A (p.Val415=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 9 +1 more	GUncertain significance
Select item 1465551	NM_198428.3(BBS9):c.1855C>T (p.Arg619Cys)	BBS9 (R493C +8 more)	Single nucleotide variant (missense variant +1 more)	BBS9-related condition +2 more	GUncertain significance
Select item 1456527	NM_198428.3(BBS9):c.1561C>T (p.Arg521Ter)	BBS9 (R476* +8 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 1434022	NM_198428.3(BBS9):c.1798C>T (p.Arg600Cys)	BBS9 (R509C +8 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 9 +1 more	GUncertain significance
Select item 1412141	NM_198428.3(BBS9):c.1801A>G (p.Ile601Val)	BBS9 (I444V +8 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1399407	NM_198428.3(BBS9):c.2533A>G (p.Thr845Ala)	BBS9 (T723A +9 more)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1399014	NM_198428.3(BBS9):c.563C>T (p.Ser188Phe)	BBS9 (S188F +3 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1398187	NM_198428.3(BBS9):c.2080C>T (p.His694Tyr)	BBS9 (H568Y +8 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1397187	NM_198428.3(BBS9):c.559A>G (p.Ser187Gly)	BBS9 (S142G +3 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +3 more	GUncertain significance
Select item 1395850	NM_198428.3(BBS9):c.335T>C (p.Leu112Ser)	BBS9 (L67S +2 more)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome 9 +3 more	GUncertain significance
Select item 1392502	NM_198428.3(BBS9):c.529G>T (p.Gly177Cys)	BBS9 (G132C +3 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 9 +2 more	GUncertain significance
Select item 1381734	NM_198428.3(BBS9):c.702+6G>A	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1344653	NM_198428.3(BBS9):c.542C>G (p.Pro181Arg)	BBS9 (P136R +3 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 9	GPathogenic
Select item 1342593	NM_198428.3(BBS9):c.1540C>T (p.Arg514Ter)	BBS9 (R357* +6 more)	Single nucleotide variant (nonsense +2 more)	Bardet-Biedl syndrome 9 +1 more	GPathogenic/Likely pathogenic
Select item 1192381	NM_198428.3(BBS9):c.1330-62C>T	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 9 +1 more	GBenign
Select item 1175009	NM_198428.3(BBS9):c.1468del (p.Tyr490fs)	BBS9 (Y368fs +3 more)	Deletion (frameshift variant +2 more)	Bardet-Biedl syndrome 9	GLikely pathogenic
Select item 1168836	NM_198428.3(BBS9):c.1276-17C>T	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GBenign/Likely benign
Select item 1167622	NM_198428.3(BBS9):c.702+15dup	BBS9	Duplication (intron variant)	Bardet-Biedl syndrome 9 +1 more	GBenign/Likely benign
Select item 1135979	NM_198428.3(BBS9):c.195C>A (p.Ala65=)	BBS9	Single nucleotide variant (synonymous variant +3 more)	BBS9-related condition +2 more	GLikely benign
Select item 1129089	NM_198428.3(BBS9):c.2022G>T (p.Arg674=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 9 +1 more	GLikely benign
Select item 1118666	NM_198428.3(BBS9):c.1198+13C>T	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 1113742	NM_198428.3(BBS9):c.1464T>C (p.Ser488=)	BBS9	Single nucleotide variant (synonymous variant +2 more)	BBS9-related condition +2 more	GLikely benign
Select item 1110487	NM_198428.3(BBS9):c.2313G>A (p.Thr771=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	BBS9-related condition +2 more	GLikely benign
Select item 1093259	NM_198428.3(BBS9):c.1790-17T>C	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 9 +1 more	GLikely benign
Select item 1074830	NM_198428.3(BBS9):c.1789C>T (p.Gln597Ter)	BBS9 (Q440* +8 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome +2 more	GPathogenic
Select item 1074680	NM_198428.3(BBS9):c.2007_2008dup (p.Ala670fs)	BBS9 (A513fs +8 more)	Microsatellite (frameshift variant +1 more)	Bardet-Biedl syndrome 9 +2 more	GPathogenic/Likely pathogenic
Select item 1073367	NM_198428.3(BBS9):c.1474A>T (p.Lys492Ter)	BBS9 (K370* +3 more)	Single nucleotide variant (nonsense +2 more)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1064082	NM_198428.3(BBS9):c.122T>G (p.Ile41Ser)	BBS9 (I41S)	Single nucleotide variant (missense variant +3 more)	Bardet-Biedl syndrome 9 +1 more	GUncertain significance
Select item 1062754	NM_198428.3(BBS9):c.2033G>A (p.Arg678His)	BBS9 (R521H +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1060247	NM_198428.3(BBS9):c.894A>C (p.Glu298Asp)	BBS9 (E176D +3 more)	Single nucleotide variant (missense variant +1 more)	BBS9-related condition +2 more	GUncertain significance
Select item 1051873	NM_198428.3(BBS9):c.862A>G (p.Ser288Gly)	BBS9 (S166G +3 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 1049097	NM_198428.3(BBS9):c.1352T>C (p.Ile451Thr)	BBS9 (I329T +3 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 1044975	NM_198428.3(BBS9):c.1844A>G (p.Glu615Gly)	BBS9 (E524G +8 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 9 +1 more	GUncertain significance
Select item 1036775	NM_198428.3(BBS9):c.2449G>A (p.Asp817Asn)	BBS9 (D817N +9 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 9 +1 more	GUncertain significance
Select item 1030982	NM_198428.3(BBS9):c.1016+5G>T	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 9	GUncertain significance
Select item 1017297	NM_198428.3(BBS9):c.1431G>A (p.Met477Ile)	BBS9 (M355I +3 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1015925	NM_198428.3(BBS9):c.2186G>A (p.Ser729Asn)	BBS9 (S572N +8 more)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1015510	NM_198428.3(BBS9):c.2174C>T (p.Thr725Ile)	BBS9 (T568I +8 more)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1007872	NM_198428.3(BBS9):c.1370T>C (p.Leu457Ser)	BBS9 (L335S +3 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 983105	NM_198428.3(BBS9):c.1138G>T (p.Glu380Ter)	BBS9 (E258* +3 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 9	GPathogenic
Select item 983094	NM_198428.3(BBS9):c.190C>T (p.Gln64Ter)	BBS9 (Q19* +1 more)	Single nucleotide variant (nonsense +3 more)	Bardet-Biedl syndrome 9 +1 more	GPathogenic
Select item 975060	NM_198428.3(BBS9):c.214del (p.Val72fs)	BBS9 (V27fs +1 more)	Deletion (frameshift variant +3 more)	Bardet-Biedl syndrome 9 +1 more	GPathogenic/Likely pathogenic
Select item 971614	NM_198428.3(BBS9):c.761A>G (p.Asn254Ser)	BBS9 (N132S +3 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 9 +2 more	GUncertain significance
Select item 971120	NM_198428.3(BBS9):c.2365A>G (p.Lys789Glu)	BBS9 (K606E +9 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 9 +2 more	GUncertain significance
Select item 968232	NM_198428.3(BBS9):c.1836A>G (p.Ile612Met)	BBS9 (I490M +8 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 9 +3 more	GUncertain significance
Select item 968155	NM_198428.3(BBS9):c.928A>G (p.Asn310Asp)	BBS9 (N219D +3 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 9 +4 more	GUncertain significance
Select item 967279	NM_198428.3(BBS9):c.1199G>A (p.Gly400Asp)	BBS9 (G400D +3 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 9 +2 more	GUncertain significance
Select item 967273	NM_198428.3(BBS9):c.1147G>A (p.Val383Ile)	BBS9 (V261I +3 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 958389	NM_198428.3(BBS9):c.2434A>T (p.Ile812Phe)	BBS9 (I690F +9 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 947972	NM_198428.3(BBS9):c.1741C>T (p.His581Tyr)	BBS9 (H536Y +8 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 9 +1 more	GUncertain significance
Select item 935069	NM_198428.3(BBS9):c.2098G>A (p.Asp700Asn)	BBS9 (D574N +8 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance

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