ClinVar for MedGen (Select 341804) - ClinVar

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Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3255156	NM_015910.7(WDPCP):c.1523T>G (p.Leu508Arg)	WDPCP (L349R +2 more)	Single nucleotide variant (missense variant +1 more)	Heart defect - tongue hamartoma - polysyndactyly syndrome	GUncertain significance
Select item 3062312	NM_015910.7(WDPCP):c.2050_2053del (p.Gln684fs)	WDPCP (Q525fs +2 more)	Deletion (frameshift variant +1 more)	Heart defect - tongue hamartoma - polysyndactyly syndrome	GLikely pathogenic
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 2584976	NM_015910.7(WDPCP):c.2101G>T (p.Glu701Ter)	WDPCP (E542* +2 more)	Single nucleotide variant (nonsense +1 more)	Heart defect - tongue hamartoma - polysyndactyly syndrome	GLikely pathogenic
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 1172573	GRCh37/hg19 2p15(chr2:63521229-63572056)x1	WDPCP	Copy number loss	Heart defect - tongue hamartoma - polysyndactyly syndrome	GPathogenic
Select item 1172556	NM_015910.7(WDPCP):c.1780G>A (p.Ala594Thr)	WDPCP (A435T +2 more)	Single nucleotide variant (missense variant +1 more)	Heart defect - tongue hamartoma - polysyndactyly syndrome	GUncertain significance
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 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 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 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 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 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 699793	NM_015910.7(WDPCP):c.210G>A (p.Ala70=)	WDPCP	Single nucleotide variant (synonymous variant +1 more)	Heart defect - tongue hamartoma - polysyndactyly syndrome +2 more	GLikely benign
Select item 690307	NM_015910.7(WDPCP):c.526_527del (p.Leu176fs)	WDPCP (L152fs +2 more)	Deletion (frameshift variant +1 more)	Orofaciodigital syndrome +1 more	GPathogenic/Likely pathogenic
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 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 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 336767	NM_015910.7(WDPCP):c.1079C>T (p.Ser360Leu)	WDPCP (S360L +2 more)	Single nucleotide variant (missense variant +1 more)	Heart defect - tongue hamartoma - polysyndactyly syndrome +2 more	GUncertain significance
Select item 336766	NM_015910.7(WDPCP):c.1094A>G (p.Glu365Gly)	WDPCP (E365G +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +3 more	GUncertain significance
Select item 220911	NM_015910.7(WDPCP):c.176T>A (p.Ile59Asn)	WDPCP (I59N +1 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +3 more	GConflicting classifications of pathogenicity
Select item 216694	NM_015910.7(WDPCP):c.1729T>G (p.Phe577Val)	WDPCP (F577V +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 193904	NM_015910.7(WDPCP):c.1591CTT[1] (p.Leu532del)	WDPCP (L532del +2 more)	Microsatellite (inframe_deletion +1 more)	not provided +3 more	GUncertain significance
Select item 162669	NM_015910.7(WDPCP):c.160G>A (p.Asp54Asn)	WDPCP (D54N +1 more)	Single nucleotide variant (missense variant +1 more)	Heart defect - tongue hamartoma - polysyndactyly syndrome +2 more	GConflicting classifications of pathogenicity
Select item 162668	NM_015910.7(WDPCP):c.552_553del (p.Cys185fs)	WDPCP (C185fs +2 more)	Deletion (frameshift variant +1 more)	Heart defect - tongue hamartoma - polysyndactyly syndrome	GPathogenic
Select item 95744	NM_015910.7(WDPCP):c.1915+13G>A	WDPCP	Single nucleotide variant (intron variant)	Heart defect - tongue hamartoma - polysyndactyly syndrome +5 more	GBenign

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Items: 84