ClinVar for MedGen (Select 461477) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234011	NM_015910.7(WDPCP):c.720C>A (p.Cys240Ter)	WDPCP (C216* +1 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 15	GPathogenic
Select item 3024286	NM_015910.7(WDPCP):c.395G>T (p.Gly132Val)	WDPCP (G108V +1 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 15 +1 more	GUncertain significance
Select item 3024285	NM_015910.7(WDPCP):c.1187G>T (p.Ser396Ile)	WDPCP (S237I +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 15 +1 more	GUncertain significance
Select item 1684223	NM_015910.7(WDPCP):c.1624+24T>A	WDPCP	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1647065	NM_015910.7(WDPCP):c.1941G>A (p.Gly647=)	WDPCP	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 15 +2 more	GLikely benign
Select item 1642819	NM_015910.7(WDPCP):c.385-12A>G	WDPCP	Single nucleotide variant (intron variant)	Heart defect - tongue hamartoma - polysyndactyly syndrome +2 more	GLikely benign
Select item 1642186	NM_015910.7(WDPCP):c.161-14C>T	WDPCP	Single nucleotide variant (intron variant)	Heart defect - tongue hamartoma - polysyndactyly syndrome +2 more	GLikely benign
Select item 1629485	NM_015910.7(WDPCP):c.1625-12T>G	WDPCP	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 15 +2 more	GLikely benign
Select item 1609666	NM_015910.7(WDPCP):c.2142T>C (p.Asn714=)	WDPCP	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +2 more	GLikely benign
Select item 1608453	NM_015910.7(WDPCP):c.634-12T>A	WDPCP	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +2 more	GLikely benign
Select item 1584406	NM_015910.7(WDPCP):c.633+17A>T	WDPCP	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +2 more	GLikely benign
Select item 1577247	NM_015910.7(WDPCP):c.825+19T>G	WDPCP	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +2 more	GLikely benign
Select item 1573218	NM_015910.7(WDPCP):c.826-13T>C	WDPCP	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 15 +2 more	GLikely benign
Select item 1550466	NM_015910.7(WDPCP):c.1435+19T>C	WDPCP	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +2 more	GLikely benign
Select item 1531268	NM_015910.7(WDPCP):c.1916-18A>G	WDPCP	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +2 more	GLikely benign
Select item 1493888	NM_015910.7(WDPCP):c.302G>A (p.Arg101Gln)	WDPCP (R101Q +1 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 15 +3 more	GUncertain significance
Select item 1478463	NM_015910.7(WDPCP):c.952A>G (p.Ile318Val)	WDPCP (I294V +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 1473475	NM_015910.7(WDPCP):c.1466T>C (p.Ile489Thr)	WDPCP (I330T +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 1461924	NM_015910.7(WDPCP):c.2047C>A (p.Gln683Lys)	WDPCP (Q659K +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 1448717	NM_015910.7(WDPCP):c.1237A>G (p.Ile413Val)	WDPCP (I254V +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 1448082	NM_015910.7(WDPCP):c.2190+1G>A	WDPCP	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 1444457	NM_015910.7(WDPCP):c.73C>A (p.Gln25Lys)	WDPCP (Q25K)	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 1413740	NM_015910.7(WDPCP):c.208+6G>T	WDPCP	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 1404182	NM_015910.7(WDPCP):c.1417G>A (p.Val473Met)	WDPCP (V473M +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 15 +2 more	GUncertain significance
Select item 1390037	NM_015910.7(WDPCP):c.2010C>A (p.Asn670Lys)	WDPCP (N646K +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 1389322	NM_015910.7(WDPCP):c.634A>C (p.Ile212Leu)	WDPCP (I212L +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 1381177	NM_015910.7(WDPCP):c.172G>A (p.Gly58Arg)	WDPCP (G58R +1 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +3 more	GUncertain significance
Select item 1352451	NM_015910.7(WDPCP):c.1340A>G (p.Gln447Arg)	WDPCP (Q288R +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 15 +2 more	GUncertain significance
Select item 1339333	NM_015910.7(WDPCP):c.1492T>G (p.Cys498Gly)	WDPCP (C339G +2 more)	Single nucleotide variant (missense variant +1 more)	Heart defect - tongue hamartoma - polysyndactyly syndrome +1 more	GUncertain significance
Select item 1179146	NM_015910.7(WDPCP):c.1809_1812+6del	WDPCP	Deletion (splice donor variant)	Bardet-Biedl syndrome 15 +1 more	GPathogenic
Select item 1117080	NM_015910.7(WDPCP):c.325-17T>C	WDPCP	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +2 more	GLikely benign
Select item 1107209	NM_015910.7(WDPCP):c.2178C>T (p.Asp726=)	WDPCP	Single nucleotide variant (synonymous variant +1 more)	Heart defect - tongue hamartoma - polysyndactyly syndrome +2 more	GLikely benign
Select item 1102313	NM_015910.7(WDPCP):c.1793G>A (p.Gly598Asp)	WDPCP (G439D +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 15 +2 more	GLikely benign
Select item 1099609	NM_015910.7(WDPCP):c.252G>T (p.Glu84Asp)	WDPCP (E60D +1 more)	Single nucleotide variant (missense variant +1 more)	Heart defect - tongue hamartoma - polysyndactyly syndrome +2 more	GLikely benign
Select item 1097992	NM_015910.7(WDPCP):c.123G>A (p.Leu41=)	WDPCP	Single nucleotide variant (synonymous variant +1 more)	Heart defect - tongue hamartoma - polysyndactyly syndrome +2 more	GLikely benign
Select item 1093713	NM_015910.7(WDPCP):c.654C>T (p.Pro218=)	WDPCP	Single nucleotide variant (synonymous variant +1 more)	Heart defect - tongue hamartoma - polysyndactyly syndrome +2 more	GLikely benign
Select item 1076112	NM_015910.7(WDPCP):c.547A>T (p.Lys183Ter)	WDPCP (K159* +2 more)	Single nucleotide variant (nonsense +1 more)	Heart defect - tongue hamartoma - polysyndactyly syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1058192	NM_015910.7(WDPCP):c.771T>A (p.Ser257=)	WDPCP	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1056364	NM_015910.7(WDPCP):c.209C>T (p.Ala70Val)	WDPCP (A46V +1 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 1054408	NM_015910.7(WDPCP):c.841C>T (p.Arg281Cys)	WDPCP (R122C +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 15 +2 more	GUncertain significance
Select item 1047142	NM_015910.7(WDPCP):c.581A>G (p.Glu194Gly)	WDPCP (E194G +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 1042588	NM_015910.7(WDPCP):c.1018G>T (p.Ala340Ser)	WDPCP (A316S +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 1036133	NM_015910.7(WDPCP):c.124C>T (p.His42Tyr)	WDPCP (H18Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 1027217	NM_015910.7(WDPCP):c.286C>T (p.Arg96Cys)	WDPCP (R72C +1 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 1017860	NM_015910.7(WDPCP):c.1784T>A (p.Val595Asp)	WDPCP (V436D +2 more)	Single nucleotide variant (missense variant +1 more)	WDPCP-related disorder +4 more	GUncertain significance
Select item 1005664	NM_015910.7(WDPCP):c.691A>G (p.Ile231Val)	WDPCP (I207V +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1005224	NM_015910.7(WDPCP):c.1799G>A (p.Arg600His)	WDPCP (R441H +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 1002306	NM_015910.7(WDPCP):c.243G>T (p.Lys81Asn)	WDPCP (K57N +1 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 1000170	NM_015910.7(WDPCP):c.1201T>G (p.Leu401Val)	WDPCP (L242V +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +3 more	GUncertain significance
Select item 981527	NM_015910.7(WDPCP):c.968G>A (p.Arg323Gln)	WDPCP (R164Q +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 981526	NM_015910.7(WDPCP):c.1011G>C (p.Lys337Asn)	WDPCP (K178N +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 15	GUncertain significance
Select item 974876	NM_015910.7(WDPCP):c.253+2T>C	WDPCP	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 15	GLikely pathogenic
Select item 970949	NM_015910.7(WDPCP):c.46A>C (p.Ser16Arg)	WDPCP (S16R)	Single nucleotide variant (5 prime UTR variant +2 more)	Heart defect - tongue hamartoma - polysyndactyly syndrome +2 more	GUncertain significance
Select item 969340	NM_015910.7(WDPCP):c.633+2T>C	WDPCP	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome +2 more	GLikely pathogenic
Select item 965746	NM_015910.7(WDPCP):c.1258C>T (p.Arg420Cys)	WDPCP (R420C +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 964102	NM_015910.7(WDPCP):c.1451G>A (p.Gly484Glu)	WDPCP (G325E +2 more)	Single nucleotide variant (missense variant +1 more)	Heart defect - tongue hamartoma - polysyndactyly syndrome +2 more	GUncertain significance
Select item 958124	NM_015910.7(WDPCP):c.967C>T (p.Arg323Trp)	WDPCP (R164W +2 more)	Single nucleotide variant (missense variant +1 more)	Heart defect - tongue hamartoma - polysyndactyly syndrome +2 more	GUncertain significance
Select item 957564	NM_015910.7(WDPCP):c.1687A>G (p.Ile563Val)	WDPCP (I404V +2 more)	Single nucleotide variant (missense variant +1 more)	Heart defect - tongue hamartoma - polysyndactyly syndrome +2 more	GUncertain significance
Select item 937073	NM_015910.7(WDPCP):c.193A>G (p.Lys65Glu)	WDPCP (K65E +1 more)	Single nucleotide variant (missense variant +1 more)	Heart defect - tongue hamartoma - polysyndactyly syndrome +2 more	GUncertain significance
Select item 917967	NM_015910.7(WDPCP):c.2078+1G>T	WDPCP	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 15	GPathogenic
Select item 917597	NM_015910.7(WDPCP):c.1163G>A (p.Ser388Asn)	WDPCP (S229N +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GUncertain significance
Select item 898897	NM_015910.7(WDPCP):c.-176G>C	WDPCP	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 898834	NM_015910.7(WDPCP):c.1576G>A (p.Ala526Thr)	WDPCP (A367T +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 15 +2 more	GUncertain significance
Select item 898767	NM_015910.7(WDPCP):c.*634A>G	WDPCP	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 15	GUncertain significance
Select item 897746	NM_015910.7(WDPCP):c.-96G>T	WDPCP	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 15	GUncertain significance
Select item 897745	NM_015910.7(WDPCP):c.142A>G (p.Asn48Asp)	WDPCP (N24D +1 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 15	GUncertain significance
Select item 897670	NM_015910.7(WDPCP):c.1600C>A (p.Gln534Lys)	WDPCP (Q510K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 897669	NM_015910.7(WDPCP):c.1731C>A (p.Phe577Leu)	WDPCP (F418L +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 15 +1 more	GUncertain significance
Select item 897668	NM_015910.7(WDPCP):c.1880G>T (p.Ser627Ile)	WDPCP (S627I +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 15	GUncertain significance
Select item 896145	NM_015910.7(WDPCP):c.255A>G (p.Ser85=)	WDPCP	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 15 +1 more	GConflicting classifications of pathogenicity
Select item 896144	NM_015910.7(WDPCP):c.486C>T (p.Asp162=)	WDPCP	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 15 +1 more	GUncertain significance
Select item 896143	NM_015910.7(WDPCP):c.499+9C>T	WDPCP	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 15 +1 more	GConflicting classifications of pathogenicity
Select item 896142	NM_015910.7(WDPCP):c.661A>G (p.Ile221Val)	WDPCP (I221V +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 15 +1 more	GConflicting classifications of pathogenicity
Select item 896080	NM_015910.7(WDPCP):c.2158+14A>G	WDPCP	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 15	GUncertain significance
Select item 895870	NM_015910.7(WDPCP):c.1080G>A (p.Ser360=)	WDPCP	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 15 +1 more	GConflicting classifications of pathogenicity
Select item 895795	NM_015910.7(WDPCP):c.2216A>G (p.Lys739Arg)	WDPCP (K739R +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 15	GUncertain significance
Select item 895794	NM_015910.7(WDPCP):c.*327G>A	WDPCP	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 15 +1 more	GLikely benign
Select item 895793	NM_015910.7(WDPCP):c.*559G>A	WDPCP	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 15	GUncertain significance
Select item 860971	NM_015910.7(WDPCP):c.413C>T (p.Ser138Phe)	WDPCP (S114F +1 more)	Single nucleotide variant (missense variant +1 more)	Heart defect - tongue hamartoma - polysyndactyly syndrome +2 more	GUncertain significance
Select item 860723	NM_015910.7(WDPCP):c.1951A>C (p.Asn651His)	WDPCP (N627H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 858210	NM_015910.7(WDPCP):c.677A>T (p.Glu226Val)	WDPCP (E202V +2 more)	Single nucleotide variant (missense variant +1 more)	Heart defect - tongue hamartoma - polysyndactyly syndrome +3 more	GUncertain significance
Select item 850045	NM_015910.7(WDPCP):c.655G>A (p.Gly219Ser)	WDPCP (G195S +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +3 more	GConflicting classifications of pathogenicity
Select item 847806	NM_015910.7(WDPCP):c.1789G>A (p.Val597Ile)	WDPCP (V573I +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +3 more	GConflicting classifications of pathogenicity
Select item 842238	NM_015910.7(WDPCP):c.1331T>G (p.Ile444Arg)	WDPCP (I285R +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +4 more	GUncertain significance
Select item 838580	NM_015910.7(WDPCP):c.334C>G (p.Gln112Glu)	WDPCP (Q88E +1 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 834407	NM_015910.7(WDPCP):c.842G>A (p.Arg281His)	WDPCP (R281H +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 15 +3 more	GUncertain significance
Select item 701228	NM_015910.7(WDPCP):c.1575C>T (p.Ser525=)	WDPCP	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
Select item 700056	NM_015910.7(WDPCP):c.990A>G (p.Ser330=)	WDPCP	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +2 more	GConflicting classifications of pathogenicity
Select item 699793	NM_015910.7(WDPCP):c.210G>A (p.Ala70=)	WDPCP	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 15 +2 more	GLikely benign
Select item 696101	NM_015910.7(WDPCP):c.924A>G (p.Val308=)	WDPCP	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 15 +1 more	GConflicting classifications of pathogenicity
Select item 695798	NM_015910.7(WDPCP):c.868C>T (p.Arg290Cys)	WDPCP (R290C +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 15 +1 more	GConflicting classifications of pathogenicity
Select item 695203	NM_015910.7(WDPCP):c.220G>C (p.Gly74Arg)	WDPCP (G74R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 631865	NM_015910.7(WDPCP):c.209-1G>A	WDPCP	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 15 +1 more	GConflicting classifications of pathogenicity
Select item 631864	NM_015910.7(WDPCP):c.630_631dup (p.Lys211fs)	WDPCP (K187fs +2 more)	Microsatellite (frameshift variant +1 more)	Bardet-Biedl syndrome 15	GUncertain significance
Select item 577208	NM_015910.7(WDPCP):c.878C>G (p.Thr293Ser)	WDPCP (T293S +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 15 +2 more	GUncertain significance
Select item 531833	NM_015910.7(WDPCP):c.159G>A (p.Ala53=)	WDPCP	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 15 +2 more	GConflicting classifications of pathogenicity
Select item 531816	NM_015910.7(WDPCP):c.1438G>A (p.Val480Ile)	WDPCP (V480I +2 more)	Single nucleotide variant (missense variant +1 more)	Heart defect - tongue hamartoma - polysyndactyly syndrome +3 more	GUncertain significance
Select item 522195	NM_015910.7(WDPCP):c.1448G>A (p.Arg483Gln)	WDPCP (R483Q +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 15 +2 more	GConflicting classifications of pathogenicity
Select item 462949	NM_015910.7(WDPCP):c.1263A>C (p.Leu421Phe)	WDPCP (L421F +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GLikely benign
Select item 336775	NM_015910.7(WDPCP):c.-188G>C	WDPCP	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 15	GLikely benign

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