C1837213[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 259922	NM_006147.4(IRF6):c.1153T>C (p.Leu385=)	IRF6	Single nucleotide variant (synonymous variant)	Van der Woude syndrome +5 more	GBenign
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 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 778743	NM_006147.4(IRF6):c.994G>A (p.Val332Ile)	IRF6 (V237I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 873581	NM_006147.4(IRF6):c.888C>T (p.Asp296=)	IRF6	Single nucleotide variant (synonymous variant)	Orofacial cleft 6, susceptibility to +3 more	GConflicting classifications of pathogenicity
Select item 259928	NM_006147.4(IRF6):c.820G>A (p.Val274Ile)	IRF6 (V274I +1 more)	Single nucleotide variant (missense variant)	Popliteal pterygium syndrome +5 more	GBenign
Select item 259927	NM_006147.4(IRF6):c.759T>C (p.Tyr253=)	IRF6	Single nucleotide variant (synonymous variant)	Van der Woude syndrome +5 more	GBenign/Likely benign
Select item 295208	NM_006147.4(IRF6):c.711C>T (p.Tyr237=)	IRF6	Single nucleotide variant (synonymous variant)	Van der Woude syndrome 1 +4 more	GLikely benign
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 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 259925	NM_006147.4(IRF6):c.459G>T (p.Ser153=)	IRF6	Single nucleotide variant (synonymous variant)	Popliteal pterygium syndrome +6 more	GBenign
Select item 295210	NM_006147.4(IRF6):c.390G>T (p.Gly130=)	IRF6	Single nucleotide variant (synonymous variant)	Van der Woude syndrome 1 +4 more	GBenign
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 259923	NM_006147.4(IRF6):c.175-5C>G	IRF6	Single nucleotide variant (intron variant)	Popliteal pterygium syndrome +6 more	GBenign
Select item 295211	NM_006147.4(IRF6):c.9C>T (p.Leu3=)	IRF6	Single nucleotide variant (synonymous variant +1 more)	Van der Woude syndrome 1 +3 more	GBenign/Likely benign
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 295213	NM_006147.4(IRF6):c.-44G>A	IRF6	Single nucleotide variant (5 prime UTR variant +1 more)	IRF6-related condition +2 more	GBenign/Likely benign
Select item 295214	NM_006147.4(IRF6):c.-73T>C	IRF6	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +3 more	GBenign
Select item 295215	NM_006147.4(IRF6):c.-75-4A>G	IRF6	Single nucleotide variant (intron variant)	Van der Woude syndrome +4 more	GBenign
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 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 368864	NM_006147.3(IRF6):c.-313T>A	IRF6	Single nucleotide variant	Popliteal pterygium syndrome +4 more	GBenign

ClinVar

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Items: 74