ClinVar for MedGen (Select 347180) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2680088	NM_176824.3(BBS7):c.293_294del (p.Lys98fs)	BBS7 (K98fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 2680087	NM_176824.3(BBS7):c.1190_1194del (p.Ile397fs)	BBS7 (I397fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 2680086	NM_176824.3(BBS7):c.328del (p.Ser110fs)	BBS7 (S110fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 2680085	NM_176824.3(BBS7):c.1489del (p.Thr497fs)	BBS7 (T497fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 2680084	NM_176824.3(BBS7):c.790G>T (p.Gly264Ter)	BBS7 (G264*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 2680083	NM_176824.3(BBS7):c.1579dup (p.Cys527fs)	BBS7 (C527fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 7	GPathogenic
Select item 2680082	NM_176824.3(BBS7):c.719-2A>G	BBS7	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 2680081	NM_176824.3(BBS7):c.341+2T>C	BBS7	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 2680080	NM_176824.3(BBS7):c.1201C>T (p.Gln401Ter)	BBS7 (Q401*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 2680079	NM_176824.3(BBS7):c.1072C>T (p.Gln358Ter)	BBS7 (Q358*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 2680078	NM_176824.3(BBS7):c.613_614del (p.Glu205fs)	BBS7 (E205fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2680077	NM_176824.3(BBS7):c.97C>T (p.Gln33Ter)	BBS7 (Q33*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 2680076	NM_176824.3(BBS7):c.72del (p.Pro25fs)	BBS7 (P25fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 7 +1 more	GPathogenic/Likely pathogenic
Select item 2680075	NM_176824.3(BBS7):c.1846C>T (p.Gln616Ter)	BBS7 (Q616*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 7 +1 more	GPathogenic/Likely pathogenic
Select item 2680074	NM_176824.3(BBS7):c.517dup (p.Arg173fs)	BBS7 (R173fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 2680073	NM_176824.3(BBS7):c.115_116del (p.Asp39fs)	BBS7 (D39fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 2680072	NM_176824.3(BBS7):c.1685del (p.Glu562fs)	BBS7 (E562fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 2680071	NM_176824.3(BBS7):c.718+1G>C	BBS7	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 2680070	NM_176824.3(BBS7):c.1804_1807del (p.Val602fs)	BBS7 (V602fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 2680069	NM_176824.3(BBS7):c.932C>G (p.Ser311Ter)	BBS7 (S311*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 2680068	NM_176824.3(BBS7):c.420T>G (p.Tyr140Ter)	BBS7 (Y140*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 2680067	NM_176824.3(BBS7):c.288_289del (p.Gly97fs)	BBS7 (G97fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome 7	GPathogenic
Select item 2680066	NM_176824.3(BBS7):c.849+1G>A	BBS7	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 2680065	NM_176824.3(BBS7):c.1443T>A (p.Cys481Ter)	BBS7 (C481*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 7	GPathogenic
Select item 2680064	NM_176824.3(BBS7):c.1677-2A>G	BBS7	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 7 +1 more	GPathogenic/Likely pathogenic
Select item 2680063	NM_176824.3(BBS7):c.1551del (p.Phe517fs)	BBS7 (F517fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 2680062	NM_176824.3(BBS7):c.149dup (p.Lys51fs)	BBS7 (K51fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2680061	NM_176824.3(BBS7):c.1946_1947insCTAGATAT (p.Ile649_Leu650insTer)	BBS7	Microsatellite (nonsense +1 more)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 2680060	NM_176824.3(BBS7):c.725dup (p.Leu242fs)	BBS7 (L242fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 2665047	NM_176824.3(BBS7):c.110T>C (p.Ile37Thr)	BBS7 (I37T)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 2585093	NM_176824.3(BBS7):c.12_35dup (p.Leu11_Gln12insHisLeuAsnArgMetAspTyrLeu)	BBS7, LOC129993036	Duplication (inframe_insertion)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 2584780	NM_176824.3(BBS7):c.1685_1686del (p.Glu562fs)	BBS7 (E562fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 2573210	NM_176824.3(BBS7):c.1979A>G (p.Tyr660Cys)	BBS7 (Y660C)	Single nucleotide variant (missense variant)	BBS7-related condition +1 more	GUncertain significance
Select item 2502261	NM_176824.3(BBS7):c.1940A>G (p.His647Arg)	BBS7 (H647R)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 2502252	NM_176824.3(BBS7):c.1379C>T (p.Ser460Leu)	BBS7 (S460L)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 2439481	NM_176824.3(BBS7):c.500G>A (p.Cys167Tyr)	BBS7 (C167Y)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 2058921	NM_176824.3(BBS7):c.1306-1_1308del	BBS7	Deletion (splice acceptor variant)	BBS7-related condition +2 more	GPathogenic/Likely pathogenic
Select item 1806257	NM_176824.3(BBS7):c.2137G>A (p.Asp713Asn)	BBS7 (D713N)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 1803882	NM_176824.3(BBS7):c.590A>G (p.Asn197Ser)	BBS7 (N197S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1705662	NM_176824.3(BBS7):c.640G>C (p.Gly214Arg)	BBS7 (G214R)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 1687580	NM_176824.3(BBS7):c.526C>T (p.Gln176Ter)	BBS7 (Q176*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 7	GLikely pathogenic
Select item 1659258	NM_176824.3(BBS7):c.1305+13A>G	BBS7	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 1648177	NM_176824.3(BBS7):c.1231-16T>C	BBS7	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 1647823	NM_176824.3(BBS7):c.165+16T>C	BBS7	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 1597615	NM_176824.3(BBS7):c.1372-19C>G	BBS7	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 1584542	NM_176824.3(BBS7):c.1231-15dup	BBS7	Duplication (intron variant)	Bardet-Biedl syndrome +1 more	GBenign/Likely benign
Select item 1582509	NM_176824.3(BBS7):c.1038-16A>G	BBS7	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 1579686	NM_176824.3(BBS7):c.934+17T>C	BBS7	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 7 +1 more	GLikely benign
Select item 1579072	NM_176824.3(BBS7):c.1511+19C>A	BBS7	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 7 +1 more	GLikely benign
Select item 1549795	NM_176824.3(BBS7):c.1755A>G (p.Thr585=)	BBS7	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 1518093	NM_176824.3(BBS7):c.640G>A (p.Gly214Arg)	BBS7 (G214R)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7 +1 more	GUncertain significance
Select item 1507819	NM_176824.3(BBS7):c.849+1G>C	BBS7	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 7 +1 more	GPathogenic/Likely pathogenic
Select item 1493448	NM_176824.3(BBS7):c.2106T>G (p.Ser702Arg)	BBS7 (S702R)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7 +1 more	GUncertain significance
Select item 1489640	NM_176824.3(BBS7):c.1916C>T (p.Thr639Met)	BBS7 (T639M)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7 +1 more	GUncertain significance
Select item 1436469	NM_176824.3(BBS7):c.1513C>T (p.Pro505Ser)	BBS7 (P505S)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7 +1 more	GUncertain significance
Select item 1427622	NM_176824.3(BBS7):c.1960G>C (p.Asp654His)	BBS7 (D654H)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7 +1 more	GUncertain significance
Select item 1403412	NM_176824.3(BBS7):c.1450C>T (p.Arg484Cys)	BBS7 (R484C)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1393456	NM_176824.3(BBS7):c.1336C>T (p.Arg446Trp)	BBS7 (R446W)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7 +1 more	GUncertain significance
Select item 1392681	NM_176824.3(BBS7):c.983C>A (p.Pro328Gln)	BBS7 (P328Q)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1391084	NM_176824.3(BBS7):c.1676+7C>G	BBS7	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1388400	NM_176824.3(BBS7):c.1717A>G (p.Ile573Val)	BBS7 (I573V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7 +1 more	GUncertain significance
Select item 1364398	NM_176824.3(BBS7):c.1069T>G (p.Leu357Val)	BBS7 (L357V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1362137	NM_176824.3(BBS7):c.1458C>G (p.Tyr486Ter)	BBS7 (Y486*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 7 +1 more	GPathogenic/Likely pathogenic
Select item 1361921	NM_176824.3(BBS7):c.2042A>T (p.Lys681Ile)	BBS7 (K681I)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7 +1 more	GUncertain significance
Select item 1339330	NM_176824.3(BBS7):c.1337G>A (p.Arg446Gln)	BBS7 (R446Q)	Single nucleotide variant (missense variant)	BBS7-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1339325	NM_176824.3(BBS7):c.1340G>A (p.Cys447Tyr)	BBS7 (C447Y)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 1315298	NM_176824.3(BBS7):c.650C>T (p.Ala217Val)	BBS7 (A217V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 1172705	NM_176824.3(BBS7):c.302T>A (p.Leu101His)	BBS7 (L101H)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 1150031	NM_176824.3(BBS7):c.2136C>T (p.Phe712=)	BBS7	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 1146751	NM_176824.3(BBS7):c.1158A>T (p.Thr386=)	BBS7	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 7 +1 more	GLikely benign
Select item 1088568	NM_176824.3(BBS7):c.1056G>A (p.Leu352=)	BBS7	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 7 +2 more	GLikely benign
Select item 1069616	NM_176824.3(BBS7):c.1083_1084del (p.Asn362fs)	BBS7 (N362fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome 7 +1 more	GPathogenic/Likely pathogenic
Select item 1067026	NM_176824.3(BBS7):c.1512-1G>A	BBS7	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 7 +1 more	GLikely pathogenic
Select item 1063334	NM_176824.3(BBS7):c.198T>G (p.Ile66Met)	BBS7 (I66M)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7 +2 more	GConflicting classifications of pathogenicity
Select item 1052715	NM_176824.3(BBS7):c.191C>T (p.Pro64Leu)	BBS7 (P64L)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 1052675	NM_176824.3(BBS7):c.22A>T (p.Met8Leu)	LOC129993036, BBS7 (M8L)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7 +1 more	GUncertain significance
Select item 1051889	NM_176824.3(BBS7):c.600C>A (p.Gly200=)	BBS7	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 7 +1 more	GUncertain significance
Select item 1046845	NM_176824.3(BBS7):c.329G>A (p.Ser110Asn)	BBS7 (S110N)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1038287	NM_176824.3(BBS7):c.1585C>T (p.Pro529Ser)	BBS7 (P529S)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7 +1 more	GUncertain significance
Select item 1030351	NM_176824.3(BBS7):c.442A>C (p.Asn148His)	BBS7 (N148H)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1030350	NM_176824.3(BBS7):c.1012A>T (p.Met338Leu)	BBS7 (M338L)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7	GUncertain significance
Select item 1026932	NM_176824.3(BBS7):c.917T>C (p.Val306Ala)	BBS7 (V306A)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +3 more	GUncertain significance
Select item 1017434	NM_176824.3(BBS7):c.944C>T (p.Thr315Ile)	BBS7 (T315I)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 1013678	NM_176824.3(BBS7):c.1972G>A (p.Glu658Lys)	BBS7 (E658K)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1007755	NM_176824.3(BBS7):c.1097C>T (p.Ser366Phe)	BBS7 (S366F)	Single nucleotide variant (missense variant)	BBS7-related condition +2 more	GUncertain significance
Select item 1001617	NM_176824.3(BBS7):c.2012A>G (p.Tyr671Cys)	BBS7 (Y671C)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7 +1 more	GUncertain significance
Select item 999035	NM_176824.3(BBS7):c.340A>G (p.Met114Val)	BBS7 (M114V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7 +1 more	GUncertain significance
Select item 988241	NM_176824.3(BBS7):c.187G>A (p.Gly63Arg)	BBS7 (G63R)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 988240	NM_176824.3(BBS7):c.878A>C (p.Gln293Pro)	BBS7 (Q293P)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 985244	NM_176824.3(BBS7):c.1015C>T (p.Gln339Ter)	BBS7 (Q339*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 7 +1 more	GPathogenic
Select item 982871	NM_176824.3(BBS7):c.497C>T (p.Ala166Val)	BBS7 (A166V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +2 more	GConflicting classifications of pathogenicity
Select item 969175	NM_176824.3(BBS7):c.1996C>T (p.His666Tyr)	BBS7 (H666Y)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 968587	NM_176824.3(BBS7):c.76G>A (p.Ala26Thr)	BBS7 (A26T)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 962347	NM_176824.3(BBS7):c.479G>A (p.Arg160His)	BBS7 (R160H)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 960839	NM_176824.3(BBS7):c.838C>T (p.Arg280Ter)	BBS7 (R280*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 958348	NM_176824.3(BBS7):c.1517T>C (p.Met506Thr)	BBS7 (M506T)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7 +1 more	GUncertain significance
Select item 951133	NM_176824.3(BBS7):c.340A>C (p.Met114Leu)	BBS7 (M114L)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 7 +2 more	GUncertain significance
Select item 940885	NM_176824.3(BBS7):c.1574T>G (p.Val525Gly)	BBS7 (V525G)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 938988	NM_176824.3(BBS7):c.1991C>T (p.Pro664Leu)	BBS7 (P664L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 937093	NM_176824.3(BBS7):c.1654dup (p.Thr552fs)	BBS7 (T552fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 7 +1 more	GPathogenic/Likely pathogenic

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