"IRF6-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3052501	NM_006147.4(IRF6):c.1173G>A (p.Leu391=)	IRF6	Single nucleotide variant (synonymous variant)	IRF6-related disorder	GLikely benign
Select item 2630849	NM_006147.4(IRF6):c.1160G>A (p.Arg387Lys)	IRF6 (R292K +1 more)	Single nucleotide variant (missense variant)	IRF6-related disorder	GUncertain significance
Select item 3049897	NM_006147.4(IRF6):c.1003A>G (p.Asn335Asp)	IRF6 (N240D +1 more)	Single nucleotide variant (missense variant)	IRF6-related disorder	GUncertain significance
Select item 2059037	NM_006147.4(IRF6):c.777G>A (p.Met259Ile)	IRF6 (M164I +1 more)	Single nucleotide variant (missense variant)	IRF6-related disorder +3 more	GLikely benign
Select item 702724	NM_006147.4(IRF6):c.668-4G>T	IRF6	Single nucleotide variant (intron variant)	Van der Woude syndrome +3 more	GLikely benign
Select item 2630504	NM_006147.4(IRF6):c.643G>A (p.Glu215Lys)	IRF6 (E120K +1 more)	Single nucleotide variant (missense variant)	IRF6-related disorder	GUncertain significance
Select item 379807	NM_006147.4(IRF6):c.454C>T (p.Gln152Ter)	IRF6 (Q152* +1 more)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 3031706	NM_006147.4(IRF6):c.308T>C (p.Val103Ala)	IRF6 (V103A +1 more)	Single nucleotide variant (missense variant)	IRF6-related disorder	GUncertain significance
Select item 3031414	NM_006147.4(IRF6):c.264T>G (p.Asn88Lys)	IRF6 (N88K)	Single nucleotide variant (5 prime UTR variant +1 more)	IRF6-related disorder	GUncertain significance
Select item 3414	NM_006147.4(IRF6):c.250C>T (p.Arg84Cys)	IRF6 (R84C)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal dominant popliteal pterygium syndrome +5 more	GPathogenic
Select item 976856	NM_006147.4(IRF6):c.194G>A (p.Gly65Glu)	IRF6 (G65E)	Single nucleotide variant (5 prime UTR variant +1 more)	IRF6-related disorder	GUncertain significance
Select item 659301	NM_006147.4(IRF6):c.133del (p.Arg45fs)	IRF6 (R45fs)	Deletion (frameshift variant +1 more)	IRF6-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 3061358	NM_006147.4(IRF6):c.62G>A (p.Gly21Asp)	IRF6 (G21D)	Single nucleotide variant (missense variant +1 more)	IRF6-related disorder	GUncertain significance
Select item 295213	NM_006147.4(IRF6):c.-44G>A	IRF6	Single nucleotide variant (5 prime UTR variant +1 more)	IRF6-related disorder +2 more	GBenign/Likely benign
Select item 3051511	NM_006147.4(IRF6):c.-218G>A	IRF6	Single nucleotide variant (5 prime UTR variant)	IRF6-related disorder	GLikely benign