ClinVar for MedGen (Select 1640616) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2687776	NM_006147.4(IRF6):c.298A>G (p.Thr100Ala)	IRF6 (T100A +1 more)	Single nucleotide variant (missense variant)	Van der Woude syndrome 1	GPathogenic
Select item 1698899	NM_006147.4(IRF6):c.696C>A (p.Tyr232Ter)	IRF6 (Y137* +1 more)	Single nucleotide variant (nonsense)	Van der Woude syndrome 1	GLikely pathogenic
Select item 1679124	NM_006147.4(IRF6):c.965A>G (p.Tyr322Cys)	IRF6 (Y227C +1 more)	Single nucleotide variant (missense variant)	Van der Woude syndrome 1	GUncertain significance
Select item 1326898	NM_006147.4(IRF6):c.-3-3C>A	IRF6	Single nucleotide variant (intron variant)	Van der Woude syndrome 1	Gnot provided
Select item 1320307	NM_006147.4(IRF6):c.1279G>T (p.Asp427Tyr)	IRF6 (D332Y +1 more)	Single nucleotide variant (missense variant)	Van der Woude syndrome 1	Gnot provided
Select item 1320306	NM_006147.4(IRF6):c.251G>C (p.Arg84Pro)	IRF6 (R84P)	Single nucleotide variant (missense variant +1 more)	Van der Woude syndrome 1	Gnot provided
Select item 1320305	NM_006147.4(IRF6):c.250C>G (p.Arg84Gly)	IRF6 (R84G)	Single nucleotide variant (5 prime UTR variant +1 more)	Van der Woude syndrome 1	Gnot provided
Select item 996215	NM_006147.4(IRF6):c.373_374dup (p.Asn125fs)	IRF6 (N125fs +1 more)	Duplication (frameshift variant)	Van der Woude syndrome 1	GPathogenic
Select item 981801	NM_006147.4(IRF6):c.158A>G (p.Glu53Gly)	IRF6 (E53G)	Single nucleotide variant (missense variant +1 more)	Van der Woude syndrome 1	GLikely pathogenic
Select item 932250	NM_006147.4(IRF6):c.1313A>T (p.Gln438Leu)	IRF6 (Q438L +1 more)	Single nucleotide variant (missense variant)	Van der Woude syndrome 1	Gnot provided
Select item 932249	NM_006147.4(IRF6):c.326A>C (p.Lys109Thr)	IRF6 (K109T +1 more)	Single nucleotide variant (missense variant)	Van der Woude syndrome 1	Gnot provided
Select item 932248	NM_006147.4(IRF6):c.107T>A (p.Phe36Tyr)	IRF6 (F36Y)	Single nucleotide variant (missense variant +1 more)	Van der Woude syndrome 1	Gnot provided
Select item 876469	NM_006147.4(IRF6):c.1321C>T (p.Arg441Cys)	IRF6 (R441C +1 more)	Single nucleotide variant (missense variant)	Orofacial cleft 6, susceptibility to +1 more	GUncertain significance
Select item 876425	NM_006147.4(IRF6):c.*804C>G	IRF6	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 6, susceptibility to +1 more	GUncertain significance
Select item 876380	NM_006147.4(IRF6):c.*1700G>C	IRF6	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 6, susceptibility to +1 more	GUncertain significance
Select item 876379	NM_006147.4(IRF6):c.*1712T>C	IRF6	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 6, susceptibility to +1 more	GUncertain significance
Select item 876261	NM_006147.4(IRF6):c.*1771A>G	IRF6	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 6, susceptibility to +1 more	GBenign
Select item 876260	NM_006147.4(IRF6):c.*1870G>C	IRF6	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 6, susceptibility to +1 more	GUncertain significance
Select item 876215	NM_006147.4(IRF6):c.*2658A>C	IRF6	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 6, susceptibility to +1 more	GUncertain significance
Select item 875512	NM_006147.4(IRF6):c.313A>G (p.Met105Val)	IRF6 (M10V +1 more)	Single nucleotide variant (missense variant)	Van der Woude syndrome 1 +1 more	GUncertain significance
Select item 875511	NM_006147.4(IRF6):c.508+13G>A	IRF6	Single nucleotide variant (intron variant)	Van der Woude syndrome 1 +1 more	GUncertain significance
Select item 875392	NM_006147.4(IRF6):c.*932A>G	IRF6	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 6, susceptibility to +1 more	GUncertain significance
Select item 875391	NM_006147.4(IRF6):c.*1172T>A	IRF6	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 6, susceptibility to +1 more	GUncertain significance
Select item 875338	NM_006147.4(IRF6):c.*1276C>T	IRF6	Single nucleotide variant (3 prime UTR variant)	Van der Woude syndrome 1 +1 more	GUncertain significance
Select item 875303	NM_006147.4(IRF6):c.*1999T>C	IRF6	Single nucleotide variant (3 prime UTR variant)	Van der Woude syndrome 1 +1 more	GUncertain significance
Select item 875302	NM_006147.4(IRF6):c.*2002A>G	IRF6	Single nucleotide variant (3 prime UTR variant)	Van der Woude syndrome 1 +1 more	GUncertain significance
Select item 875301	NM_006147.4(IRF6):c.*2006T>C	IRF6	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 6, susceptibility to +1 more	GUncertain significance
Select item 874524	NM_006147.4(IRF6):c.*477G>A	IRF6	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 6, susceptibility to +1 more	GUncertain significance
Select item 874523	NM_006147.4(IRF6):c.*515G>A	IRF6	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 6, susceptibility to +1 more	GUncertain significance
Select item 874430	NM_006147.4(IRF6):c.*1474C>T	IRF6	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 6, susceptibility to +1 more	GUncertain significance
Select item 874429	NM_006147.4(IRF6):c.*1585C>T	IRF6	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 6, susceptibility to +1 more	GUncertain significance
Select item 874428	NM_006147.4(IRF6):c.*1700G>A	IRF6	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 6, susceptibility to +1 more	GUncertain significance
Select item 873634	NM_006147.4(IRF6):c.-75-15C>T	IRF6	Single nucleotide variant (intron variant)	Orofacial cleft 6, susceptibility to +1 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 873580	NM_006147.4(IRF6):c.1065C>T (p.Leu355=)	IRF6	Single nucleotide variant (synonymous variant)	Orofacial cleft 6, susceptibility to +1 more	GUncertain significance
Select item 872903	NM_006147.4(IRF6):c.137_174+12del	IRF6	Deletion (intron variant +1 more)	Van der Woude syndrome 1	GPathogenic
Select item 778743	NM_006147.4(IRF6):c.994G>A (p.Val332Ile)	IRF6 (V237I +1 more)	Single nucleotide variant (missense variant)	Orofacial cleft 6, susceptibility to +2 more	GBenign
Select item 617619	NM_006147.4(IRF6):c.720del (p.Thr240_Met241insTer)	IRF6	Deletion (frameshift variant)	Van der Woude syndrome 1	GPathogenic
Select item 559856	NM_006147.4(IRF6):c.659C>T (p.Ser220Phe)	IRF6 (S220F +1 more)	Single nucleotide variant (missense variant)	Van der Woude syndrome 1	GLikely pathogenic
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 533112	NM_006147.4(IRF6):c.668-5T>G	IRF6	Single nucleotide variant (intron variant)	Popliteal pterygium syndrome +2 more	GUncertain significance
Select item 521483	NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr)	CACNA1E (A702T)	Single nucleotide variant (missense variant)	Van der Woude syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 496682	NM_198173.3(GRHL3):c.1225C>T (p.Arg409Cys)	GRHL3 (R363C +2 more)	Single nucleotide variant (missense variant)	Van der Woude syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 464464	NM_006147.4(IRF6):c.82T>G (p.Trp28Gly)	IRF6 (W28G)	Single nucleotide variant (missense variant +1 more)	Popliteal pterygium syndrome +2 more	GUncertain significance
Select item 464463	NM_006147.4(IRF6):c.242C>A (p.Ala81Asp)	IRF6 (A81D)	Single nucleotide variant (5 prime UTR variant +1 more)	Popliteal pterygium syndrome +2 more	GUncertain significance
Select item 458682	NM_006147.4(IRF6):c.1234C>T (p.Arg412Ter)	IRF6 (R412* +1 more)	Single nucleotide variant (nonsense)	Orofacial cleft 6, susceptibility to +4 more	GPathogenic
Select item 458680	NM_006147.4(IRF6):c.1195del (p.Ala399fs)	IRF6 (A399fs +1 more)	Deletion (frameshift variant)	Orofacial cleft 6, susceptibility to +3 more	GPathogenic
Select item 449039	NM_006147.4(IRF6):c.25C>T (p.Arg9Trp)	IRF6 (R9W)	Single nucleotide variant (missense variant +1 more)	Orofacial cleft 6, susceptibility to +4 more	GPathogenic/Likely pathogenic
Select item 397639	NM_006147.4(IRF6):c.113T>C (p.Ile38Thr)	IRF6 (I38T)	Single nucleotide variant (missense variant +1 more)	Van der Woude syndrome 1	GPathogenic
Select item 368864	NM_006147.3(IRF6):c.-313T>A	IRF6	Single nucleotide variant	Van der Woude syndrome 1 +5 more	GBenign
Select item 295219	NM_006147.3(IRF6):c.-302A>T	IRF6	Single nucleotide variant	Cleft Lip +/- Cleft Palate, Autosomal Dominant +2 more	GBenign
Select item 295218	NM_006147.3(IRF6):c.-299C>G	IRF6	Single nucleotide variant	Cleft Lip +/- Cleft Palate, Autosomal Dominant +1 more	GUncertain significance
Select item 295217	NM_006147.3(IRF6):c.-290C>T	IRF6	Single nucleotide variant	Van der Woude syndrome 1 +1 more	GUncertain significance
Select item 295216	NM_006147.4(IRF6):c.-98T>C	IRF6	Single nucleotide variant (5 prime UTR variant)	Van der Woude syndrome 1 +1 more	GUncertain significance
Select item 295215	NM_006147.4(IRF6):c.-75-4A>G	IRF6	Single nucleotide variant (intron variant)	Orofacial cleft 6, susceptibility to +5 more	GBenign
Select item 295214	NM_006147.4(IRF6):c.-73T>C	IRF6	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GBenign
Select item 295213	NM_006147.4(IRF6):c.-44G>A	IRF6	Single nucleotide variant (5 prime UTR variant +1 more)	Orofacial cleft 6, susceptibility to +1 more	GBenign
Select item 295212	NM_006147.4(IRF6):c.-3-11G>C	IRF6	Single nucleotide variant (intron variant)	Orofacial cleft 6, susceptibility to +1 more	GUncertain significance
Select item 295211	NM_006147.4(IRF6):c.9C>T (p.Leu3=)	IRF6	Single nucleotide variant (synonymous variant +1 more)	Van der Woude syndrome +3 more	GBenign/Likely benign
Select item 295210	NM_006147.4(IRF6):c.390G>T (p.Gly130=)	IRF6	Single nucleotide variant (synonymous variant)	Van der Woude syndrome +4 more	GBenign
Select item 295209	NM_006147.4(IRF6):c.598A>G (p.Met200Val)	IRF6 (M200V +1 more)	Single nucleotide variant (missense variant)	Orofacial cleft 6, susceptibility to +1 more	GUncertain significance
Select item 295208	NM_006147.4(IRF6):c.711C>T (p.Tyr237=)	IRF6	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 295207	NM_006147.4(IRF6):c.1007T>G (p.Leu336Arg)	IRF6 (L336R +1 more)	Single nucleotide variant (missense variant)	Orofacial cleft 6, susceptibility to +1 more	GUncertain significance
Select item 295206	NM_006147.4(IRF6):c.1388C>T (p.Ala463Val)	IRF6 (A463V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 295205	NM_006147.4(IRF6):c.*204C>T	IRF6	Single nucleotide variant (3 prime UTR variant)	Van der Woude syndrome 1 +1 more	GBenign
Select item 295204	NM_006147.4(IRF6):c.219_220insCA	IRF6	Insertion (3 prime UTR variant)	Cleft Lip +/- Cleft Palate, Autosomal Dominant +2 more	GUncertain significance
Select item 295203	NM_006147.4(IRF6):c.*279T>C	IRF6	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 6, susceptibility to +1 more	GBenign
Select item 295202	NM_006147.4(IRF6):c.*342A>C	IRF6	Single nucleotide variant (3 prime UTR variant)	Van der Woude syndrome 1 +1 more	GBenign
Select item 295201	NM_006147.4(IRF6):c.*353T>C	IRF6	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 6, susceptibility to +1 more	GBenign
Select item 295200	NM_006147.4(IRF6):c.*411C>T	IRF6	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 6, susceptibility to +2 more	GBenign
Select item 295199	NM_006147.4(IRF6):c.*451A>G	IRF6	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 295198	NM_006147.4(IRF6):c.*479T>G	IRF6	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 295197	NM_006147.4(IRF6):c.*558C>T	IRF6	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 6, susceptibility to +1 more	GBenign
Select item 295196	NM_006147.4(IRF6):c.*575T>A	IRF6	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 6, susceptibility to +1 more	GUncertain significance
Select item 295195	NM_006147.4(IRF6):c.*591T>G	IRF6	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 6, susceptibility to +1 more	GUncertain significance
Select item 295194	NM_006147.4(IRF6):c.*665C>A	IRF6	Single nucleotide variant (3 prime UTR variant)	Van der Woude syndrome 1 +1 more	GBenign
Select item 295193	NM_006147.4(IRF6):c.*742A>T	IRF6	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 295192	NM_006147.4(IRF6):c.*803dup	IRF6	Duplication (3 prime UTR variant)	Van der Woude syndrome 1 +2 more	GUncertain significance
Select item 295191	NM_006147.4(IRF6):c.804_805insT	IRF6	Insertion (3 prime UTR variant)	Cleft Lip +/- Cleft Palate, Autosomal Dominant +2 more	GUncertain significance
Select item 295190	NM_006147.4(IRF6):c.*840A>G	IRF6	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 6, susceptibility to +2 more	GBenign
Select item 295189	NM_006147.4(IRF6):c.*843T>G	IRF6	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 6, susceptibility to +2 more	GBenign
Select item 295188	NM_006147.4(IRF6):c.*965G>A	IRF6	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 6, susceptibility to +1 more	GBenign
Select item 295187	NM_006147.4(IRF6):c.*1123T>C	IRF6	Single nucleotide variant (3 prime UTR variant)	Van der Woude syndrome 1 +1 more	GUncertain significance
Select item 295186	NM_006147.4(IRF6):c.*1246C>G	IRF6	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 6, susceptibility to +1 more	GBenign
Select item 295185	NM_006147.4(IRF6):c.*1265G>C	IRF6	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 295184	NM_006147.4(IRF6):c.*1329C>T	IRF6	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 295183	NM_006147.4(IRF6):c.*1473C>G	IRF6	Single nucleotide variant (3 prime UTR variant)	Van der Woude syndrome 1 +1 more	GUncertain significance
Select item 295182	NM_006147.4(IRF6):c.*1511C>T	IRF6	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 6, susceptibility to +2 more	GBenign
Select item 295181	NM_006147.4(IRF6):c.*1678del	IRF6	Deletion (3 prime UTR variant)	Van der Woude syndrome 1 +1 more	GBenign
Select item 295180	NM_006147.4(IRF6):c.*1767G>A	IRF6	Single nucleotide variant (3 prime UTR variant)	Van der Woude syndrome 1 +1 more	GUncertain significance
Select item 295179	NM_006147.4(IRF6):c.*1844G>A	IRF6	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 6, susceptibility to +1 more	GUncertain significance
Select item 295178	NM_006147.4(IRF6):c.*1893C>T	IRF6	Single nucleotide variant (3 prime UTR variant)	Van der Woude syndrome 1 +2 more	GBenign
Select item 295177	NM_006147.4(IRF6):c.*2064G>A	IRF6	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 6, susceptibility to +1 more	GUncertain significance
Select item 295176	NM_006147.4(IRF6):c.*2122T>C	IRF6	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 6, susceptibility to +1 more	GBenign
Select item 295175	NM_006147.4(IRF6):c.*2151C>A	IRF6	Single nucleotide variant (3 prime UTR variant)	Van der Woude syndrome 1 +2 more	GBenign
Select item 295174	NM_006147.4(IRF6):c.*2268C>T	IRF6	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 6, susceptibility to +1 more	GUncertain significance
Select item 295173	NM_006147.4(IRF6):c.*2344C>T	IRF6	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 6, susceptibility to +1 more	GUncertain significance
Select item 295172	NM_006147.4(IRF6):c.*2394dup	IRF6	Duplication (3 prime UTR variant)	Cleft Lip +/- Cleft Palate, Autosomal Dominant +2 more	GLikely benign
Select item 295171	NM_006147.4(IRF6):c.*2414G>A	IRF6	Single nucleotide variant (3 prime UTR variant)	Van der Woude syndrome 1 +1 more	GLikely benign
Select item 295170	NM_006147.4(IRF6):c.*2472G>A	IRF6	Single nucleotide variant (3 prime UTR variant)	Van der Woude syndrome 1 +1 more	GBenign

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