3664[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	PIK3C2B, PKP1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 more	Copy number gain	See cases	GPathogenic
Select item 150129	GRCh38/hg38 1q32.2(chr1:207583527-210159181)x1	C1orf74, CAMK1G +97 more	Copy number loss	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic
Select item 3420	nsv1067914	C1orf74, IRF6	Deletion	Van der Woude syndrome 1	GPathogenic
Select item 295168	NM_006147.4(IRF6):c.*2795G>A	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 295169	NM_006147.4(IRF6):c.*2597G>A	IRF6	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 6, susceptibility to +1 more	GBenign
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
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 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 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 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 295175	NM_006147.4(IRF6):c.*2151C>A	IRF6	Single nucleotide variant (3 prime UTR variant)	Van der Woude syndrome 1 +1 more	GBenign
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 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 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 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 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 295178	NM_006147.4(IRF6):c.*1893C>T	IRF6	Single nucleotide variant (3 prime UTR variant)	Van der Woude syndrome 1 +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 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 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 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 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 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 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 295181	NM_006147.4(IRF6):c.*1678del	IRF6	Deletion (3 prime UTR variant)	Van der Woude syndrome 1 +1 more	GBenign
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 295182	NM_006147.4(IRF6):c.*1511C>T	IRF6	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 6, susceptibility to +1 more	GBenign
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 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 295184	NM_006147.4(IRF6):c.*1329C>T	IRF6	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 6, susceptibility to +1 more	GBenign
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 295185	NM_006147.4(IRF6):c.*1265G>C	IRF6	Single nucleotide variant (3 prime UTR variant)	Van der Woude syndrome 1 +1 more	GBenign
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 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 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 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 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 295189	NM_006147.4(IRF6):c.*843T>G	IRF6	Single nucleotide variant (3 prime UTR variant)	Van der Woude syndrome 1 +1 more	GBenign
Select item 295190	NM_006147.4(IRF6):c.*840A>G	IRF6	Single nucleotide variant (3 prime UTR variant)	Van der Woude syndrome 1 +1 more	GBenign
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 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 295192	NM_006147.4(IRF6):c.*803dup	IRF6	Duplication (3 prime UTR variant)	Van der Woude syndrome 1 +2 more	GUncertain significance
Select item 295193	NM_006147.4(IRF6):c.*742A>T	IRF6	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 6, susceptibility to +1 more	GBenign
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 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 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 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 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 295198	NM_006147.4(IRF6):c.*479T>G	IRF6	Single nucleotide variant (3 prime UTR variant)	Van der Woude syndrome 1 +1 more	GBenign
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 295199	NM_006147.4(IRF6):c.*451A>G	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)	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 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 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 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 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 1463896	NM_006147.4(IRF6):c.1400A>G (p.Gln467Arg)	IRF6 (Q372R +1 more)	Single nucleotide variant (missense variant)	Orofacial cleft 6, susceptibility to +3 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 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 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 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 2544294	NM_006147.4(IRF6):c.1360C>T (p.Pro454Ser)	IRF6 (P454S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332904	NM_006147.4(IRF6):c.1350G>T (p.Gln450His)	IRF6 (Q450H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 583293	NM_006147.4(IRF6):c.1314_1324del (p.Gln438fs)	IRF6 (Q343fs +1 more)	Deletion (frameshift variant)	Van der Woude syndrome +2 more	GPathogenic
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 254674	NM_006147.4(IRF6):c.1316T>C (p.Leu439Pro)	IRF6 (L439P +1 more)	Single nucleotide variant (missense variant)	Popliteal pterygium syndrome	GPathogenic
Select item 1583612	NM_006147.4(IRF6):c.1315C>T (p.Leu439=)	IRF6	Single nucleotide variant (synonymous variant)	Orofacial cleft 6, susceptibility to +2 more	GLikely benign
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 418262	NM_006147.4(IRF6):c.1312C>T (p.Gln438Ter)	IRF6 (Q438* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2529968	NM_006147.4(IRF6):c.1292A>C (p.Asn431Thr)	IRF6 (N431T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2924513	NM_006147.4(IRF6):c.1275C>T (p.Thr425=)	IRF6	Single nucleotide variant (synonymous variant)	Orofacial cleft 6, susceptibility to +2 more	GLikely benign
Select item 30654	NM_006147.4(IRF6):c.1271C>T (p.Ser424Leu)	IRF6 (S424L +1 more)	Single nucleotide variant (missense variant)	Popliteal pterygium syndrome	GPathogenic
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 464462	NM_006147.4(IRF6):c.1268T>G (p.Ile423Ser)	IRF6 (I423S +1 more)	Single nucleotide variant (missense variant)	Popliteal pterygium syndrome +2 more	GUncertain significance
Select item 2432875	NM_006147.4(IRF6):c.1259G>A (p.Arg420His)	IRF6 (R325H +1 more)	Single nucleotide variant (missense variant)	Van der Woude syndrome +3 more	GConflicting classifications of pathogenicity
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 2581838	NM_006147.4(IRF6):c.1245T>G (p.Asp415Glu)	IRF6 (D320E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2086896	NM_006147.4(IRF6):c.1239C>A (p.Ser413=)	IRF6	Single nucleotide variant (synonymous variant)	Popliteal pterygium syndrome +2 more	GLikely benign
Select item 458682	NM_006147.4(IRF6):c.1234C>T (p.Arg412Ter)	IRF6 (R412* +1 more)	Single nucleotide variant (nonsense)	Popliteal pterygium syndrome +4 more	GPathogenic
Select item 377224	NM_006147.4(IRF6):c.1221_1230del (p.Gly408fs)	IRF6 (G408fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1298450	NM_006147.4(IRF6):c.1224T>C (p.Gly408=)	IRF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 217873	NM_006147.4(IRF6):c.1210G>A (p.Glu404Lys)	IRF6 (E404K +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 101515	NM_006147.4(IRF6):c.1199G>A (p.Arg400Gln)	IRF6 (R400Q +1 more)	Single nucleotide variant (missense variant)	Van der Woude syndrome 1	GPathogenic
Select item 3419	NM_006147.4(IRF6):c.1198C>T (p.Arg400Trp)	IRF6 (R400W +1 more)	Single nucleotide variant (missense variant)	Orofacial cleft 6, susceptibility to +2 more	GPathogenic
Select item 458680	NM_006147.4(IRF6):c.1195del (p.Ala399fs)	IRF6 (A399fs +1 more)	Deletion (frameshift variant)	Van der Woude syndrome 1 +3 more	GPathogenic
Select item 2202930	NM_006147.4(IRF6):c.1190T>C (p.Val397Ala)	IRF6 (V302A +1 more)	Single nucleotide variant (missense variant)	Popliteal pterygium syndrome +2 more	GUncertain significance
Select item 3422	NM_006147.4(IRF6):c.1186C>T (p.Pro396Ser)	IRF6 (P396S +1 more)	Single nucleotide variant (missense variant)	Van der Woude syndrome 1	GPathogenic
Select item 1272990	NM_006147.4(IRF6):c.1180-215T>A	IRF6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278647	NM_006147.4(IRF6):c.1179+292CA[14]	IRF6	Microsatellite (intron variant)	not provided	GBenign
Select item 1249213	NM_006147.4(IRF6):c.1179+292CA[15]	IRF6	Microsatellite (intron variant)	not provided	GBenign
Select item 1226586	NM_006147.4(IRF6):c.1179+292CA[13]	IRF6	Microsatellite (intron variant)	not provided	GBenign
Select item 1274820	NM_006147.4(IRF6):c.1179+218C>T	IRF6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3413	NM_006147.4(IRF6):c.1177C>T (p.Gln393Ter)	IRF6 (Q393* +1 more)	Single nucleotide variant (nonsense)	Popliteal pterygium syndrome	GPathogenic

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