ClinVar for MedGen (Select 422452) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248609	NM_024649.5(BBS1):c.159+23G>A	BBS1	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 3248569	NM_024649.5(BBS1):c.1110+30_1110+33del	BBS1, ZDHHC24	Microsatellite (intron variant)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 3240863	NM_024649.5(BBS1):c.795_804dup (p.Asn269fs)	BBS1, ZDHHC24 (N269fs)	Duplication (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 3240862	NM_024649.5(BBS1):c.106_107del (p.Thr36fs)	BBS1 (T36fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 3240861	NM_024649.5(BBS1):c.69G>A (p.Trp23Ter)	BBS1 (W23*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 2700814	NM_024649.5(BBS1):c.667del (p.Thr223fs)	BBS1 (T223fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2679961	NM_024649.5(BBS1):c.47+2T>G	BBS1	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 2679960	NM_024649.5(BBS1):c.1021delinsGG (p.Arg341fs)	BBS1, ZDHHC24 (R341fs)	Indel (frameshift variant +1 more)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 2679959	NM_024649.5(BBS1):c.951+2T>G	BBS1, ZDHHC24	Single nucleotide variant (splice donor variant +1 more)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 2679957	NM_024649.5(BBS1):c.723+2T>C	BBS1	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 2679956	NM_024649.5(BBS1):c.46dup (p.Ser16fs)	BBS1 (S16fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 2679954	NM_024649.5(BBS1):c.591+1G>A	BBS1	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 2679953	NM_024649.5(BBS1):c.723+1G>A	BBS1	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome +1 more	GLikely pathogenic
Select item 2679952	NM_024649.5(BBS1):c.1181_1191del	BBS1, ZDHHC24	Deletion (splice acceptor variant +1 more)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 2679951	NM_024649.5(BBS1):c.70_73del (p.Leu24fs)	BBS1 (L24fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 2679949	NM_024649.5(BBS1):c.855dup (p.Ile286fs)	BBS1, ZDHHC24 (I286fs)	Duplication (frameshift variant +1 more)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 2679948	NM_024649.5(BBS1):c.579dup (p.Ile194fs)	BBS1 (I194fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 2679947	NM_024649.5(BBS1):c.830+1G>T	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 2585615	NM_024649.5(BBS1):c.951+1G>C	BBS1, ZDHHC24	Single nucleotide variant (splice donor variant +1 more)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2502907	NM_031885.5(BBS2):c.1528G>T (p.Val510Phe)	BBS2 (V510F)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 2502906	NM_152618.3(BBS12):c.1685del (p.Asn562fs)	BBS12 (N562fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 1	GPathogenic
Select item 2502905	GRCh37/hg19 11q13.2(chr11:66274870-66292647)x1	BBS1, DPP3	Copy number loss	Bardet-Biedl syndrome 1	GPathogenic
Select item 2502904	NM_020843.4(SCAPER):c.3293G>A (p.Arg1098Gln)	LOC126862183, SCAPER (R1098Q +4 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 2502903	GRCh37/hg19 15q24.1(chr15:73000552-73006857)x1	BBS4	Copy number loss	Bardet-Biedl syndrome 1	GPathogenic
Select item 2439473	NM_024649.5(BBS1):c.480-28G>C	BBS1	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 2098720	NM_024649.5(BBS1):c.723+2T>G	BBS1	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2044326	NM_024649.5(BBS1):c.299G>A (p.Arg100Gln)	BBS1 (R100Q)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 2030272	NM_024649.5(BBS1):c.1401C>G (p.Tyr467Ter)	BBS1, ZDHHC24 (Y467*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 1803926	NM_024649.5(BBS1):c.1339+163G>A	BBS1, ZDHHC24 (T258M)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 1726456	NM_024649.5(BBS1):c.734_735del (p.Pro245fs)	BBS1, ZDHHC24 (P245fs)	Deletion (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 1726144	NM_024649.5(BBS1):c.434dup (p.Asp145fs)	BBS1 (D145fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 1725267	NM_024649.5(BBS1):c.1253del (p.Pro418fs)	BBS1, ZDHHC24 (P418fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 1724999	NM_024649.5(BBS1):c.1498A>T (p.Lys500Ter)	BBS1, ZDHHC24 (K500*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 1724685	NM_024649.5(BBS1):c.1214_1215del (p.Thr405fs)	BBS1, ZDHHC24 (T405fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 1724447	NM_024649.5(BBS1):c.1009del (p.Glu337fs)	BBS1, ZDHHC24 (E337fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 1724231	NM_024649.5(BBS1):c.966G>A (p.Trp322Ter)	BBS1, ZDHHC24 (W322*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 1698475	NM_024649.5(BBS1):c.1110+329C>T	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1678637	NM_024649.5(BBS1):c.830+72A>G	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 1639790	NM_024649.5(BBS1):c.432+17G>C	BBS1	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 1625042	NM_024649.5(BBS1):c.479+20T>C	BBS1	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 1606564	NM_033028.5(BBS4):c.332+8T>C	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1605520	NM_024649.5(BBS1):c.606C>T (p.Thr202=)	BBS1	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 1 +1 more	GLikely benign
Select item 1578915	NM_024649.5(BBS1):c.830+12del	BBS1, ZDHHC24	Deletion (3 prime UTR variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 1517164	NM_001278293.3(ARL6):c.143T>A (p.Leu48His)	ARL6 (L48H)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +3 more	GUncertain significance
Select item 1513499	NM_024649.5(BBS1):c.159+2del	BBS1	Deletion (splice donor variant)	Bardet-Biedl syndrome 1 +1 more	GLikely pathogenic
Select item 1504874	NM_024649.5(BBS1):c.1708C>T (p.Arg570Ter)	BBS1, ZDHHC24 (R570*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 1490603	NM_024649.5(BBS1):c.808G>A (p.Gly270Arg)	BBS1, ZDHHC24 (G270R)	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1 +1 more	GUncertain significance
Select item 1477215	NM_152384.3(BBS5):c.226A>G (p.Ile76Val)	BBS5 (I76V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 1459324	NM_024649.5(BBS1):c.607del (p.Thr202_Met203insTer)	BBS1	Deletion (nonsense)	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 1450459	NM_024649.5(BBS1):c.1474G>T (p.Val492Phe)	BBS1, ZDHHC24 (V492F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1445800	NM_024649.5(BBS1):c.43G>A (p.Glu15Lys)	BBS1 (E15K)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 1 +1 more	GUncertain significance
Select item 1444932	NM_024649.5(BBS1):c.1448G>A (p.Arg483Gln)	BBS1, ZDHHC24 (R483Q)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +2 more	GUncertain significance
Select item 1440266	NM_024649.5(BBS1):c.1294C>T (p.Arg432Trp)	BBS1, ZDHHC24 (R432W)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 1 +1 more	GUncertain significance
Select item 1440165	NM_152618.3(BBS12):c.1392_1395del (p.Cys464fs)	BBS12 (C464fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 1434855	NM_024649.5(BBS1):c.1564del (p.Leu522fs)	BBS1, ZDHHC24 (L522fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1434361	NM_024649.5(BBS1):c.1175C>A (p.Thr392Asn)	BBS1, ZDHHC24 (T392N)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 1419919	NM_024649.5(BBS1):c.1471G>A (p.Val491Met)	BBS1, ZDHHC24 (V491M)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1417809	NM_024649.5(BBS1):c.1777G>A (p.Ala593Thr)	BBS1, ZDHHC24 (A593T)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1401055	NM_024649.5(BBS1):c.199C>T (p.Arg67Cys)	BBS1 (R67C)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 1 +1 more	GUncertain significance
Select item 1382284	NM_024649.5(BBS1):c.316C>T (p.Leu106Phe)	BBS1 (L106F)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1379366	NM_024649.5(BBS1):c.1752G>A (p.Met584Ile)	BBS1, ZDHHC24 (M584I)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1379070	NM_024649.5(BBS1):c.10G>T (p.Ala4Ser)	BBS1 (A4S)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 1 +2 more	GUncertain significance
Select item 1359126	NM_024649.5(BBS1):c.88C>A (p.Pro30Thr)	BBS1 (P30T)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 1 +1 more	GUncertain significance
Select item 1339334	NM_024649.5(BBS1):c.130del (p.Ala44fs)	BBS1 (A44fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 1339331	NM_024649.5(BBS1):c.908T>C (p.Val303Ala)	BBS1, ZDHHC24 (V303A)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +2 more	GUncertain significance
Select item 1336076	NM_024649.5(BBS1):c.802C>T (p.Arg268Cys)	BBS1, ZDHHC24 (R268C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GUncertain significance
Select item 1334166	NM_024649.5(BBS1):c.1121C>G (p.Thr374Ser)	BBS1, ZDHHC24 (T374S)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 1324292	NM_024649.5(BBS1):c.47+1G>T	BBS1	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 1 +1 more	GPathogenic
Select item 1319009	NM_001278293.3(ARL6):c.529C>T (p.Leu177Phe)	ARL6 (L177F)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa +4 more	GUncertain significance
Select item 1299581	NM_024649.5(BBS1):c.752del (p.Leu251fs)	BBS1, ZDHHC24 (L251fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 1	GPathogenic
Select item 1299580	NM_024649.5(BBS1):c.48-1G>A	BBS1	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 1195969	NM_024649.5(BBS1):c.277C>T (p.Leu93Phe)	BBS1 (L93F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1192352	NM_024649.5(BBS1):c.1608+95C>T	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 1 +1 more	GBenign
Select item 1180592	NM_024649.5(BBS1):c.1180+116T>C	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 1 +1 more	GBenign
Select item 1180587	NM_024649.5(BBS1):c.518+55C>T	BBS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1180586	NM_024649.5(BBS1):c.-72C>G	BBS1	Single nucleotide variant	not provided +1 more	GBenign
Select item 1151922	NM_024649.5(BBS1):c.684C>T (p.Leu228=)	BBS1	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 1136978	NM_024649.5(BBS1):c.1470C>T (p.Ala490=)	ZDHHC24, BBS1	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 1121939	NM_024649.5(BBS1):c.1474-14C>T	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 1113570	NM_001278293.3(ARL6):c.432T>A (p.Ser144=)	ARL6	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 3 +3 more	GLikely benign
Select item 1110464	NM_024649.5(BBS1):c.1776C>T (p.Ala592=)	BBS1, ZDHHC24	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 1103931	NM_024649.5(BBS1):c.1554G>T (p.Leu518=)	BBS1, ZDHHC24	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 1079008	NM_024649.5(BBS1):c.33C>A (p.Ala11=)	BBS1	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 1075539	NM_001278293.3(ARL6):c.4G>T (p.Gly2Ter)	ARL6 (G2*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 1 +2 more	GPathogenic
Select item 1074464	NM_024649.5(BBS1):c.382C>T (p.Gln128Ter)	BBS1 (Q128*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1065728	NM_024649.5(BBS1):c.227T>A (p.Val76Glu)	BBS1 (V76E)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1061853	NM_024649.5(BBS1):c.602C>T (p.Thr201Ile)	BBS1 (T201I)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1060670	NM_001128178.3(NPHP1):c.1462A>G (p.Met488Val)	NPHP1 (M425V +4 more)	Single nucleotide variant (missense variant)	Nephronophthisis +3 more	GUncertain significance
Select item 1058538	NM_024649.5(BBS1):c.634G>A (p.Asp212Asn)	BBS1 (D212N)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 1058044	NM_024649.5(BBS1):c.274T>C (p.Phe92Leu)	BBS1 (F92L)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 1053292	NM_024649.5(BBS1):c.587G>A (p.Arg196Gln)	BBS1 (R196Q)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 1051033	NM_024649.5(BBS1):c.910G>T (p.Val304Leu)	BBS1, ZDHHC24 (V304L)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1047189	NM_024649.5(BBS1):c.1628G>A (p.Gly543Glu)	BBS1, ZDHHC24 (G543E)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1040540	NM_024649.5(BBS1):c.595G>A (p.Val199Ile)	BBS1 (V199I)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1037930	NM_024649.5(BBS1):c.646G>A (p.Val216Met)	BBS1 (V216M)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 1037324	NM_024649.5(BBS1):c.1006C>G (p.Leu336Val)	BBS1, ZDHHC24 (L336V)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1037244	NM_024649.5(BBS1):c.1181-9C>G	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 1028835	NM_024649.5(BBS1):c.951+1G>T	BBS1, ZDHHC24	Single nucleotide variant (splice donor variant +1 more)	Bardet-Biedl syndrome 1	GPathogenic
Select item 1026513	NM_024649.5(BBS1):c.1054A>G (p.Asn352Asp)	BBS1, ZDHHC24 (N352D)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1024607	NM_001278293.3(ARL6):c.49G>A (p.Glu17Lys)	ARL6 (E17K)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 1 +4 more	GUncertain significance

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