ClinVar for MedGen (Select 347909) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3342287	NM_024685.4(BBS10):c.1183C>G (p.His395Asp)	BBS10 (H395D)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 3342286	NM_024685.4(BBS10):c.703A>T (p.Ile235Phe)	BBS10 (I235F)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 3242542	NM_024685.3(BBS10):c.-151T>C	BBS10	Single nucleotide variant	Bardet-Biedl syndrome 10	GUncertain significance
Select item 3240871	NM_024685.4(BBS10):c.1890_1905del (p.Ser630fs)	BBS10 (S630fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 3240870	NM_024685.4(BBS10):c.192dup (p.Ala65fs)	BBS10 (A65fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 3240869	NM_024685.4(BBS10):c.2026_2029del (p.Thr676fs)	BBS10 (T676fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 3240868	NM_024685.4(BBS10):c.258_261del (p.Phe86fs)	BBS10 (F86fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 3240867	NM_024685.4(BBS10):c.640_653delinsA (p.Val214fs)	BBS10 (V214fs)	Indel (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 3240866	NM_024685.4(BBS10):c.865del (p.Trp289fs)	BBS10 (W289fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 3240865	NM_024685.4(BBS10):c.103C>T (p.Gln35Ter)	BBS10 (Q35*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 3240864	NM_024685.4(BBS10):c.1457_1458del (p.Tyr486fs)	BBS10 (Y486fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 2733680	NM_024685.4(BBS10):c.466_467del (p.Ile156fs)	BBS10 (I156fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2679987	NM_024685.4(BBS10):c.330_331del (p.Cys110_Glu111delinsTer)	BBS10	Microsatellite (nonsense)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 2679986	NM_024685.4(BBS10):c.641T>A (p.Val214Glu)	BBS10 (V214E)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 2679985	NM_024685.4(BBS10):c.461del (p.Leu154fs)	BBS10 (L154fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 2679984	NM_024685.4(BBS10):c.1623_1624insGT (p.Lys542fs)	BBS10 (K542fs)	Insertion (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2679983	NM_024685.4(BBS10):c.2024dup (p.Thr676fs)	BBS10 (T676fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 2679982	NM_024685.4(BBS10):c.9_10insAT (p.Ser4fs)	BBS10 (S4fs)	Insertion (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2679981	NM_024685.4(BBS10):c.859C>T (p.Gln287Ter)	BBS10 (Q287*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 2679980	NM_024685.4(BBS10):c.1701dup (p.Thr568fs)	BBS10 (T568fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2679979	NM_024685.4(BBS10):c.1554_1557del (p.Thr519fs)	BBS10 (T519fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 2679978	NM_024685.4(BBS10):c.992T>C (p.Val331Ala)	BBS10 (V331A)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2679977	NM_024685.4(BBS10):c.171_174dup (p.His59fs)	BBS10 (H59fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 2679976	NM_024685.4(BBS10):c.1860dup (p.Cys621fs)	BBS10 (C621fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 2679975	NM_024685.4(BBS10):c.22_35delinsTCAG (p.Ala8fs)	BBS10 (A8fs)	Indel (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 2679974	NM_024685.4(BBS10):c.488_489del (p.Arg163fs)	BBS10 (R163fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 2679973	NM_024685.4(BBS10):c.253del (p.Thr85fs)	BBS10 (T85fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2679972	NM_024685.4(BBS10):c.1526_1527dup (p.Thr510fs)	BBS10 (T510fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 2679971	NM_024685.4(BBS10):c.1606del (p.Tyr536fs)	BBS10 (Y536fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 2679970	NM_024685.4(BBS10):c.1076del (p.Gln359fs)	BBS10 (Q359fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 2679969	NM_024685.4(BBS10):c.254_255insG (p.Phe86fs)	BBS10 (F86fs)	Insertion (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 2679968	NM_024685.4(BBS10):c.844_845del (p.Gln282fs)	BBS10 (Q282fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 2679966	NM_024685.4(BBS10):c.807dup (p.Thr270fs)	BBS10 (T270fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 2679965	NM_024685.4(BBS10):c.1676del (p.Tyr559fs)	BBS10 (Y559fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 2679964	NM_024685.4(BBS10):c.1654_1655del (p.Gly552fs)	BBS10 (G552fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 2679963	NM_024685.4(BBS10):c.484G>T (p.Glu162Ter)	BBS10 (E162*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 2679962	NM_024685.4(BBS10):c.899A>C (p.His300Pro)	BBS10 (H300P)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2577452	NM_024685.4(BBS10):c.1330dup (p.Ser444fs)	BBS10 (S444fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 10	GPathogenic
Select item 2577451	NM_024685.4(BBS10):c.1555_1564del (p.Thr519fs)	BBS10 (T519fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10	GPathogenic
Select item 2503454	NM_024685.4(BBS10):c.924G>T (p.Leu308Phe)	BBS10 (L308F)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GPathogenic
Select item 2502256	NM_024685.4(BBS10):c.1220T>C (p.Ile407Thr)	BBS10 (I407T)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 2439474	NM_024685.4(BBS10):c.930A>G (p.Ile310Met)	BBS10 (I310M)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 2436621	NM_024685.4(BBS10):c.157_170dup (p.Leu58fs)	BBS10 (L58fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 2431453	NM_024685.4(BBS10):c.923T>C (p.Leu308Ser)	BBS10 (L308S)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 2136306	NM_024685.4(BBS10):c.180dup (p.Glu61fs)	BBS10 (E61fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 1801520	NM_024685.4(BBS10):c.805dup (p.Ser269fs)	BBS10 (S269fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 10 +1 more	GPathogenic
Select item 1710500	NM_024685.4(BBS10):c.569T>C (p.Ile190Thr)	BBS10 (I190T)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 1595736	NM_024685.4(BBS10):c.197+13C>G	BBS10	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 10 +1 more	GLikely benign
Select item 1528726	NM_024685.4(BBS10):c.648C>T (p.Asp216=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 1520499	NM_024685.4(BBS10):c.1696A>G (p.Asn566Asp)	BBS10 (N566D)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10 +1 more	GUncertain significance
Select item 1515437	NM_024685.4(BBS10):c.1A>G (p.Met1Val)	BBS10 (M1V)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 1515337	NM_024685.4(BBS10):c.1696A>C (p.Asn566His)	BBS10 (N566H)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1494948	NM_024685.4(BBS10):c.1882A>G (p.Met628Val)	BBS10 (M628V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 1457503	NM_024685.4(BBS10):c.963T>G (p.Tyr321Ter)	BBS10 (Y321*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1457055	NM_024685.4(BBS10):c.84C>A (p.Cys28Ter)	BBS10 (C28*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1453738	NM_024685.4(BBS10):c.1335_1338del (p.Tyr448fs)	BBS10 (Y448fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10 +1 more	GPathogenic/Likely pathogenic
Select item 1451034	NM_024685.4(BBS10):c.1741C>T (p.Pro581Ser)	BBS10 (P581S)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10 +1 more	GUncertain significance
Select item 1432412	NM_024685.4(BBS10):c.793C>T (p.Gln265Ter)	BBS10 (Q265*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1423758	NM_024685.4(BBS10):c.1075C>G (p.Gln359Glu)	BBS10 (Q359E)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1383469	NM_024685.4(BBS10):c.1514C>T (p.Pro505Leu)	BBS10 (P505L)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10 +2 more	GUncertain significance
Select item 1381653	NM_024685.4(BBS10):c.1427A>G (p.Asn476Ser)	BBS10 (N476S)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1361644	NM_024685.4(BBS10):c.310_311del (p.Glu104fs)	BBS10 (E104fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome 10 +1 more	GPathogenic/Likely pathogenic
Select item 1339326	NM_024685.4(BBS10):c.788C>T (p.Thr263Ile)	BBS10 (T263I)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 1336406	NM_024685.4(BBS10):c.85G>T (p.Val29Leu)	BBS10 (V29L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1334155	NM_024685.4(BBS10):c.1230T>G (p.His410Gln)	BBS10 (H410Q)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 1333503	NM_024685.4(BBS10):c.804_805del (p.Ser269fs)	BBS10 (S269fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10 +2 more	GPathogenic/Likely pathogenic
Select item 1210363	NM_024685.4(BBS10):c.235del (p.Thr79fs)	BBS10 (T79fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10 +1 more	GPathogenic/Likely pathogenic
Select item 1195899	NM_024685.4(BBS10):c.955G>C (p.Val319Leu)	BBS10 (V319L)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 1179122	NM_024685.4(BBS10):c.9_15delinsGC (p.Ser3fs)	BBS10 (S3fs)	Indel (frameshift variant)	Bardet-Biedl syndrome 10 +1 more	GPathogenic
Select item 1160496	NM_024685.4(BBS10):c.2167C>T (p.Leu723=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1156416	NM_024685.4(BBS10):c.6A>G (p.Leu2=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 10 +1 more	GLikely benign
Select item 1136956	NM_024685.4(BBS10):c.1923C>T (p.Pro641=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 1129113	NM_024685.4(BBS10):c.402A>G (p.Leu134=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 10 +1 more	GLikely benign
Select item 1110275	NM_024685.4(BBS10):c.1602T>G (p.Thr534=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1099604	NM_024685.4(BBS10):c.27G>T (p.Gly9=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 10 +1 more	GLikely benign
Select item 1079348	NM_024685.4(BBS10):c.1092C>T (p.Asn364=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1058632	NM_024685.4(BBS10):c.1463A>G (p.Lys488Arg)	BBS10 (K488R)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 1053917	NM_024685.4(BBS10):c.2003A>G (p.Asn668Ser)	BBS10 (N668S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1053590	NM_024685.4(BBS10):c.337A>G (p.Ile113Val)	BBS10 (I113V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 1044570	NM_024685.4(BBS10):c.1360A>G (p.Ser454Gly)	BBS10 (S454G)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 1038853	NM_024685.4(BBS10):c.2004T>G (p.Asn668Lys)	BBS10 (N668K)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 1035476	NM_024685.4(BBS10):c.2169A>G (p.Leu723=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1034486	NM_024685.4(BBS10):c.209A>G (p.Asp70Gly)	BBS10 (D70G)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 1029918	NM_024685.4(BBS10):c.1365T>G (p.Tyr455Ter)	BBS10 (Y455*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 10 +1 more	GPathogenic
Select item 1025067	NM_024685.4(BBS10):c.106G>T (p.Val36Phe)	BBS10 (V36F)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 1021415	NM_024685.4(BBS10):c.2048G>A (p.Gly683Asp)	BBS10 (G683D)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 1020117	NM_024685.4(BBS10):c.1234G>C (p.Asp412His)	BBS10 (D412H)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 1015521	NM_024685.4(BBS10):c.1780A>G (p.Met594Val)	BBS10 (M594V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10 +1 more	GUncertain significance
Select item 990679	NM_024685.4(BBS10):c.1181C>A (p.Pro394Gln)	BBS10 (P394Q)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 990678	NM_024685.4(BBS10):c.1325C>T (p.Thr442Ile)	BBS10 (T442I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 990677	NM_024685.4(BBS10):c.1418T>A (p.Val473Asp)	BBS10 (V473D)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 990676	NM_024685.4(BBS10):c.1530A>G (p.Thr510=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 990675	NM_024685.4(BBS10):c.1684T>C (p.Leu562=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 10 +1 more	GLikely benign
Select item 990674	NM_024685.4(BBS10):c.1856A>G (p.Lys619Arg)	BBS10 (K619R)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 990673	NM_024685.4(BBS10):c.1865A>G (p.His622Arg)	BBS10 (H622R)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 990672	NM_024685.4(BBS10):c.2157A>G (p.Ser719=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 986341	NM_024685.4(BBS10):c.9_14del (p.Ser3_Met5delinsArg)	BBS10	Deletion (inframe_indel)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
Select item 975077	NM_024685.4(BBS10):c.1337_1338del (p.Phe446fs)	BBS10 (F446fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10	GPathogenic/Likely pathogenic
Select item 971539	NM_024685.4(BBS10):c.198-3C>T	BBS10	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 971057	NM_024685.4(BBS10):c.1700T>C (p.Ile567Thr)	BBS10 (I567T)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance

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