ClinVar for MedGen (Select 61233) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2952881	NM_006147.4(IRF6):c.458C>T (p.Ser153Leu)	IRF6 (S153L +1 more)	Single nucleotide variant (missense variant)	Orofacial cleft 6, susceptibility to +2 more	GUncertain significance
Select item 2952043	NM_006147.4(IRF6):c.649T>C (p.Trp217Arg)	IRF6 (W122R +1 more)	Single nucleotide variant (missense variant)	Orofacial cleft 6, susceptibility to +3 more	GUncertain significance
Select item 2951994	NM_006147.4(IRF6):c.1386del (p.Ala463fs)	IRF6 (A463fs +1 more)	Deletion (frameshift variant)	Orofacial cleft 6, susceptibility to +2 more	GUncertain significance
Select item 2951710	NM_006147.4(IRF6):c.760G>A (p.Gly254Arg)	IRF6 (G159R +1 more)	Single nucleotide variant (missense variant)	Orofacial cleft 6, susceptibility to +2 more	GLikely pathogenic
Select item 2951457	NM_006147.4(IRF6):c.379G>A (p.Gly127Arg)	IRF6 (G127R +1 more)	Single nucleotide variant (missense variant)	Orofacial cleft 6, susceptibility to +2 more	GUncertain significance
Select item 2947839	NM_006147.4(IRF6):c.928G>C (p.Ala310Pro)	IRF6 (A215P +1 more)	Single nucleotide variant (missense variant)	Orofacial cleft 6, susceptibility to +2 more	GLikely pathogenic
Select item 2947280	NM_006147.4(IRF6):c.301A>G (p.Lys101Glu)	IRF6 (K101E +1 more)	Single nucleotide variant (missense variant)	Orofacial cleft 6, susceptibility to +2 more	GUncertain significance
Select item 2946902	NM_006147.4(IRF6):c.430G>T (p.Glu144Ter)	IRF6 (E49* +1 more)	Single nucleotide variant (nonsense)	Orofacial cleft 6, susceptibility to +2 more	GPathogenic
Select item 2946861	NM_006147.4(IRF6):c.492del (p.Phe165fs)	IRF6 (F165fs +1 more)	Deletion (frameshift variant)	Orofacial cleft 6, susceptibility to +2 more	GPathogenic
Select item 2945660	NM_006147.4(IRF6):c.1053C>A (p.Phe351Leu)	IRF6 (F351L +1 more)	Single nucleotide variant (missense variant)	Orofacial cleft 6, susceptibility to +2 more	GUncertain significance
Select item 2934785	NM_006147.4(IRF6):c.1398C>T (p.Pro466=)	IRF6	Single nucleotide variant (synonymous variant)	Orofacial cleft 6, susceptibility to +2 more	GLikely benign
Select item 2925313	NM_006147.4(IRF6):c.175G>T (p.Ala59Ser)	IRF6 (A59S)	Single nucleotide variant (5 prime UTR variant +1 more)	Popliteal pterygium syndrome +2 more	GLikely pathogenic
Select item 2925312	NM_006147.4(IRF6):c.259C>T (p.Leu87Phe)	IRF6 (L87F)	Single nucleotide variant (5 prime UTR variant +1 more)	Popliteal pterygium syndrome +2 more	GPathogenic
Select item 2925311	NM_006147.4(IRF6):c.290A>G (p.Tyr97Cys)	IRF6 (Y97C +1 more)	Single nucleotide variant (missense variant)	Popliteal pterygium syndrome +2 more	GUncertain significance
Select item 2925310	NM_006147.4(IRF6):c.329T>C (p.Ile110Thr)	IRF6 (I110T +1 more)	Single nucleotide variant (missense variant)	Popliteal pterygium syndrome +2 more	GLikely pathogenic
Select item 2925270	NM_006147.4(IRF6):c.805G>A (p.Val269Ile)	IRF6 (V174I +1 more)	Single nucleotide variant (missense variant)	Popliteal pterygium syndrome +2 more	GUncertain significance
Select item 2924513	NM_006147.4(IRF6):c.1275C>T (p.Thr425=)	IRF6	Single nucleotide variant (synonymous variant)	Popliteal pterygium syndrome +2 more	GLikely benign
Select item 2922793	NM_006147.4(IRF6):c.281A>G (p.Asn94Ser)	IRF6 (N94S)	Single nucleotide variant (5 prime UTR variant +1 more)	Orofacial cleft 6, susceptibility to +2 more	GUncertain significance
Select item 2572982	NM_198173.3(GRHL3):c.1285G>T (p.Gly429Cys)	GRHL3 (G383C +2 more)	Single nucleotide variant (missense variant)	Van der Woude syndrome	GUncertain significance
Select item 2572981	NM_006147.4(IRF6):c.687del (p.Lys229fs)	IRF6 (K134fs +1 more)	Deletion (frameshift variant)	Van der Woude syndrome	GLikely pathogenic
Select item 2432875	NM_006147.4(IRF6):c.1259G>A (p.Arg420His)	IRF6 (R325H +1 more)	Single nucleotide variant (missense variant)	Popliteal pterygium syndrome +3 more	GConflicting classifications of pathogenicity
Select item 2425515	NC_000001.10:g.(?_209961765)_(209965792_?)del	IRF6	Deletion	Popliteal pterygium syndrome +2 more	GPathogenic
Select item 2202932	NM_006147.4(IRF6):c.235T>C (p.Trp79Arg)	IRF6 (W79R)	Single nucleotide variant (5 prime UTR variant +1 more)	Orofacial cleft 6, susceptibility to +2 more	GPathogenic
Select item 2202931	NM_006147.4(IRF6):c.274G>A (p.Glu92Lys)	IRF6 (E92K)	Single nucleotide variant (5 prime UTR variant +1 more)	Orofacial cleft 6, susceptibility to +2 more	GPathogenic
Select item 2202930	NM_006147.4(IRF6):c.1190T>C (p.Val397Ala)	IRF6 (V302A +1 more)	Single nucleotide variant (missense variant)	Orofacial cleft 6, susceptibility to +2 more	GUncertain significance
Select item 2125039	NM_006147.4(IRF6):c.379+3G>T	IRF6	Single nucleotide variant (intron variant)	Popliteal pterygium syndrome +2 more	GUncertain significance
Select item 2112178	NM_006147.4(IRF6):c.56_62del (p.Asp19fs)	IRF6 (D19fs)	Deletion (frameshift variant +1 more)	Orofacial cleft 6, susceptibility to +2 more	GPathogenic
Select item 2104432	NM_006147.4(IRF6):c.1061-1G>T	IRF6	Single nucleotide variant (splice acceptor variant)	Orofacial cleft 6, susceptibility to +2 more	GPathogenic
Select item 2088215	NM_006147.4(IRF6):c.561C>A (p.Ser187Arg)	IRF6 (S92R +1 more)	Single nucleotide variant (missense variant)	Popliteal pterygium syndrome +2 more	GUncertain significance
Select item 2086896	NM_006147.4(IRF6):c.1239C>A (p.Ser413=)	IRF6	Single nucleotide variant (synonymous variant)	Orofacial cleft 6, susceptibility to +2 more	GLikely benign
Select item 2079347	NM_006147.4(IRF6):c.522G>A (p.Ala174=)	IRF6	Single nucleotide variant (synonymous variant)	Popliteal pterygium syndrome +2 more	GLikely benign
Select item 2059037	NM_006147.4(IRF6):c.777G>A (p.Met259Ile)	IRF6 (M164I +1 more)	Single nucleotide variant (missense variant)	Popliteal pterygium syndrome +2 more	GLikely benign
Select item 2050774	NM_006147.4(IRF6):c.1059C>T (p.Ser353=)	IRF6	Single nucleotide variant (synonymous variant)	Van der Woude syndrome +2 more	GLikely benign
Select item 2050435	NM_006147.4(IRF6):c.1089del (p.Ile363fs)	IRF6 (I363fs +1 more)	Deletion (frameshift variant)	Van der Woude syndrome +2 more	GPathogenic
Select item 2046408	NM_006147.4(IRF6):c.1061-7T>C	IRF6	Single nucleotide variant (intron variant)	Orofacial cleft 6, susceptibility to +2 more	GLikely benign
Select item 2026633	NM_006147.4(IRF6):c.2T>A (p.Met1Lys)	IRF6 (M1K)	Single nucleotide variant (missense variant +2 more)	Popliteal pterygium syndrome +2 more	GPathogenic
Select item 2020314	NM_006147.4(IRF6):c.508+15T>G	IRF6	Single nucleotide variant (intron variant)	Van der Woude syndrome +2 more	GLikely benign
Select item 2011466	NM_006147.4(IRF6):c.1061-10C>G	IRF6	Single nucleotide variant (intron variant)	Van der Woude syndrome +2 more	GUncertain significance
Select item 2009421	NM_006147.4(IRF6):c.819_820delinsCA (p.Gln273_Val274delinsHisIle)	IRF6	Indel (missense variant)	Van der Woude syndrome +2 more	GUncertain significance
Select item 1928387	NM_006147.4(IRF6):c.294T>C (p.Asp98=)	IRF6	Single nucleotide variant (synonymous variant)	Orofacial cleft 6, susceptibility to +2 more	GLikely benign
Select item 1718314	NM_006147.4(IRF6):c.1247G>A (p.Ser416Asn)	IRF6 (S321N +1 more)	Single nucleotide variant (missense variant)	Orofacial cleft 6, susceptibility to +2 more	GUncertain significance
Select item 1600226	NM_006147.4(IRF6):c.390G>A (p.Gly130=)	IRF6	Single nucleotide variant (synonymous variant)	Van der Woude syndrome +2 more	GBenign
Select item 1583612	NM_006147.4(IRF6):c.1315C>T (p.Leu439=)	IRF6	Single nucleotide variant (synonymous variant)	Van der Woude syndrome +2 more	GLikely benign
Select item 1507060	NM_006147.4(IRF6):c.269G>C (p.Ser90Thr)	IRF6 (S90T)	Single nucleotide variant (5 prime UTR variant +1 more)	Orofacial cleft 6, susceptibility to +2 more	GLikely pathogenic
Select item 1486318	NM_006147.4(IRF6):c.726C>G (p.Thr242=)	IRF6	Single nucleotide variant (synonymous variant)	Orofacial cleft 6, susceptibility to +2 more	GUncertain significance
Select item 1463896	NM_006147.4(IRF6):c.1400A>G (p.Gln467Arg)	IRF6 (Q372R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1462384	NM_006147.4(IRF6):c.745T>C (p.Cys249Arg)	IRF6 (C154R +1 more)	Single nucleotide variant (missense variant)	Popliteal pterygium syndrome +2 more	GUncertain significance
Select item 1459906	NM_006147.4(IRF6):c.902del (p.Gly301fs)	IRF6 (G301fs +1 more)	Deletion (frameshift variant)	Van der Woude syndrome +2 more	GPathogenic
Select item 1456673	NM_006147.4(IRF6):c.647_650dup (p.Trp217fs)	IRF6 (W122fs +1 more)	Microsatellite (frameshift variant)	Orofacial cleft 6, susceptibility to +2 more	GPathogenic
Select item 1456094	NM_006147.4(IRF6):c.575G>A (p.Trp192Ter)	IRF6 (W192* +1 more)	Single nucleotide variant (nonsense)	Orofacial cleft 6, susceptibility to +2 more	GPathogenic
Select item 1455254	NM_006147.4(IRF6):c.1052T>C (p.Phe351Ser)	IRF6 (F351S +1 more)	Single nucleotide variant (missense variant)	Orofacial cleft 6, susceptibility to +2 more	GPathogenic
Select item 1452687	NM_006147.4(IRF6):c.321_322del (p.Val108fs)	IRF6 (V108fs +1 more)	Deletion (frameshift variant)	Orofacial cleft 6, susceptibility to +2 more	GPathogenic
Select item 1445221	NM_006147.4(IRF6):c.478C>T (p.Gln160Ter)	IRF6 (Q160* +1 more)	Single nucleotide variant (nonsense)	Orofacial cleft 6, susceptibility to +2 more	GPathogenic
Select item 1440379	NM_006147.4(IRF6):c.263A>G (p.Asn88Ser)	IRF6 (N88S)	Single nucleotide variant (5 prime UTR variant +1 more)	Popliteal pterygium syndrome +2 more	GPathogenic
Select item 1423078	NM_006147.4(IRF6):c.1045G>T (p.Glu349Ter)	IRF6 (E254* +1 more)	Single nucleotide variant (nonsense)	Popliteal pterygium syndrome +2 more	GPathogenic
Select item 1409081	NM_006147.4(IRF6):c.921C>T (p.Ser307=)	IRF6	Single nucleotide variant (synonymous variant)	Van der Woude syndrome +2 more	GUncertain significance
Select item 1403214	NM_006147.4(IRF6):c.683T>C (p.Ile228Thr)	IRF6 (I133T +1 more)	Single nucleotide variant (missense variant)	Popliteal pterygium syndrome +2 more	GUncertain significance
Select item 1372197	NM_006147.4(IRF6):c.866T>C (p.Leu289Pro)	IRF6 (L194P +1 more)	Single nucleotide variant (missense variant)	Orofacial cleft 6, susceptibility to +2 more	GUncertain significance
Select item 1349516	NM_006147.4(IRF6):c.327G>C (p.Lys109Asn)	IRF6 (K14N +1 more)	Single nucleotide variant (missense variant)	Van der Woude syndrome +2 more	GUncertain significance
Select item 1320638	NM_006147.4(IRF6):c.961G>A (p.Val321Met)	IRF6 (V226M +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1167033	NM_006147.4(IRF6):c.351T>G (p.Pro117=)	IRF6	Single nucleotide variant (synonymous variant)	Popliteal pterygium syndrome +2 more	GBenign
Select item 1075467	NM_006147.4(IRF6):c.439del (p.Glu147fs)	IRF6 (E147fs +1 more)	Deletion (frameshift variant)	Popliteal pterygium syndrome +2 more	GPathogenic
Select item 1074446	NM_006147.4(IRF6):c.748C>T (p.Arg250Ter)	IRF6 (R155* +1 more)	Single nucleotide variant (nonsense)	Popliteal pterygium syndrome +3 more	GPathogenic
Select item 1073005	NM_006147.4(IRF6):c.558C>A (p.Cys186Ter)	IRF6 (C186* +1 more)	Single nucleotide variant (nonsense)	Popliteal pterygium syndrome +2 more	GPathogenic
Select item 1070385	NC_000001.10:g.(?_209974565)_(209979435_?)del	IRF6	Deletion	Orofacial cleft 6, susceptibility to +2 more	GPathogenic
Select item 1070384	NC_000001.10:g.(?_209974565)_(209974778_?)del	IRF6	Deletion	Orofacial cleft 6, susceptibility to +2 more	GPathogenic
Select item 1043710	NM_006147.4(IRF6):c.169T>C (p.Phe57Leu)	IRF6 (F57L)	Single nucleotide variant (missense variant +1 more)	Van der Woude syndrome +2 more	GLikely pathogenic
Select item 1042039	NM_006147.4(IRF6):c.199_213dup (p.Tyr67_Val71dup)	IRF6	Duplication (5 prime UTR variant +1 more)	Popliteal pterygium syndrome +2 more	GUncertain significance
Select item 1035083	NM_006147.4(IRF6):c.932T>C (p.Ile311Thr)	IRF6 (I216T +1 more)	Single nucleotide variant (missense variant)	Popliteal pterygium syndrome +2 more	GUncertain significance
Select item 1025351	NM_006147.4(IRF6):c.277T>C (p.Phe93Leu)	IRF6 (F93L)	Single nucleotide variant (5 prime UTR variant +1 more)	Orofacial cleft 6, susceptibility to +2 more	GUncertain significance
Select item 1019576	NM_006147.4(IRF6):c.1138C>T (p.Pro380Ser)	IRF6 (P285S +1 more)	Single nucleotide variant (missense variant)	Orofacial cleft 6, susceptibility to +2 more	GPathogenic
Select item 1018738	NM_006147.4(IRF6):c.754T>G (p.Phe252Val)	IRF6 (F157V +1 more)	Single nucleotide variant (missense variant)	Orofacial cleft 6, susceptibility to +2 more	GUncertain significance
Select item 1014137	NM_006147.4(IRF6):c.1270T>G (p.Ser424Ala)	IRF6 (S329A +1 more)	Single nucleotide variant (missense variant)	Orofacial cleft 6, susceptibility to +2 more	GUncertain significance
Select item 1006033	NM_006147.4(IRF6):c.819G>C (p.Gln273His)	IRF6 (Q178H +1 more)	Single nucleotide variant (missense variant)	Popliteal pterygium syndrome +2 more	GUncertain significance
Select item 972274	NM_006147.4(IRF6):c.108_109delinsG (p.Phe36fs)	IRF6 (F36fs)	Indel (frameshift variant +1 more)	Popliteal pterygium syndrome +2 more	GPathogenic
Select item 959992	NM_006147.4(IRF6):c.52G>A (p.Val18Met)	IRF6 (V18M)	Single nucleotide variant (missense variant +1 more)	Orofacial cleft 6, susceptibility to +2 more	GUncertain significance
Select item 957538	NM_006147.4(IRF6):c.1060G>A (p.Asp354Asn)	IRF6 (D259N +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 938570	NM_006147.4(IRF6):c.622C>T (p.Gln208Ter)	IRF6 (Q113* +1 more)	Single nucleotide variant (nonsense)	Popliteal pterygium syndrome +2 more	GPathogenic
Select item 934161	NM_006147.4(IRF6):c.668-8C>G	IRF6	Single nucleotide variant (intron variant)	Popliteal pterygium syndrome +2 more	GUncertain significance
Select item 873581	NM_006147.4(IRF6):c.888C>T (p.Asp296=)	IRF6	Single nucleotide variant (synonymous variant)	Van der Woude syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 857849	NM_006147.4(IRF6):c.35C>A (p.Pro12His)	IRF6 (P12H)	Single nucleotide variant (missense variant +1 more)	Popliteal pterygium syndrome +2 more	GUncertain significance
Select item 857662	NM_006147.4(IRF6):c.174G>A (p.Lys58=)	IRF6	Single nucleotide variant (synonymous variant +1 more)	Van der Woude syndrome +2 more	GUncertain significance
Select item 851809	NM_006147.4(IRF6):c.179G>A (p.Trp60Ter)	IRF6 (W60*)	Single nucleotide variant (5 prime UTR variant +1 more)	Van der Woude syndrome +2 more	GPathogenic
Select item 849913	NM_006147.4(IRF6):c.1121G>A (p.Cys374Tyr)	IRF6 (C374Y +1 more)	Single nucleotide variant (missense variant)	Orofacial cleft 6, susceptibility to +2 more	GLikely pathogenic
Select item 844327	NM_006147.4(IRF6):c.989C>A (p.Ser330Ter)	IRF6 (S330* +1 more)	Single nucleotide variant (nonsense)	Orofacial cleft 6, susceptibility to +2 more	GPathogenic
Select item 843190	NM_006147.4(IRF6):c.180G>A (p.Trp60Ter)	IRF6 (W60*)	Single nucleotide variant (5 prime UTR variant +1 more)	Orofacial cleft 6, susceptibility to +2 more	GPathogenic
Select item 702724	NM_006147.4(IRF6):c.668-4G>T	IRF6	Single nucleotide variant (intron variant)	Orofacial cleft 6, susceptibility to +2 more	GLikely benign
Select item 702221	NM_006147.4(IRF6):c.380-4G>A	IRF6	Single nucleotide variant (intron variant)	Orofacial cleft 6, susceptibility to +3 more	GLikely benign
Select item 663350	NM_006147.4(IRF6):c.176C>T (p.Ala59Val)	IRF6 (A59V)	Single nucleotide variant (5 prime UTR variant +1 more)	Van der Woude syndrome +2 more	GLikely pathogenic
Select item 659301	NM_006147.4(IRF6):c.133del (p.Arg45fs)	IRF6 (R45fs)	Deletion (frameshift variant +1 more)	Van der Woude syndrome +3 more	GPathogenic/Likely pathogenic
Select item 650115	NM_006147.4(IRF6):c.292G>C (p.Asp98His)	IRF6 (D98H +1 more)	Single nucleotide variant (missense variant)	Popliteal pterygium syndrome +2 more	GLikely pathogenic
Select item 644879	NM_006147.4(IRF6):c.665C>T (p.Pro222Leu)	IRF6 (P222L +1 more)	Single nucleotide variant (missense variant)	Popliteal pterygium syndrome +3 more	GUncertain significance
Select item 643611	NM_006147.4(IRF6):c.950G>A (p.Cys317Tyr)	IRF6 (C317Y +1 more)	Single nucleotide variant (missense variant)	Van der Woude syndrome +2 more	GLikely pathogenic
Select item 583293	NM_006147.4(IRF6):c.1314_1324del (p.Gln438fs)	IRF6 (Q343fs +1 more)	Deletion (frameshift variant)	Popliteal pterygium syndrome +2 more	GPathogenic
Select item 579346	NM_006147.4(IRF6):c.41_42delinsGT (p.Leu14Arg)	IRF6 (L14R)	Indel (missense variant +1 more)	Popliteal pterygium syndrome +2 more	GUncertain significance
Select item 576768	NM_006147.4(IRF6):c.565G>A (p.Glu189Lys)	IRF6 (E189K +1 more)	Single nucleotide variant (missense variant)	Popliteal pterygium syndrome +2 more	GUncertain significance
Select item 568248	NM_006147.4(IRF6):c.174+2dup	IRF6	Duplication (intron variant +1 more)	Van der Woude syndrome +2 more	GUncertain significance
Select item 533114	NM_006147.4(IRF6):c.1368del (p.Ser457fs)	IRF6 (S457fs +1 more)	Deletion (frameshift variant)	Popliteal pterygium syndrome +2 more	GUncertain significance
Select item 533113	NM_006147.4(IRF6):c.264T>A (p.Asn88Lys)	IRF6 (N88K)	Single nucleotide variant (5 prime UTR variant +1 more)	Orofacial cleft 6, susceptibility to +2 more	GUncertain significance
Select item 533112	NM_006147.4(IRF6):c.668-5T>G	IRF6	Single nucleotide variant (intron variant)	Popliteal pterygium syndrome +2 more	GUncertain significance

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