"Daryl Scott Lab, Baylor College of Medicine"[submitter] AND "MED12"[g - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233405	NM_005120.3(MED12):c.3667G>C (p.Val1223Leu)	MED12 (V1223L)	Single nucleotide variant (missense variant)	Nonspecific Intellectual Disability	GLikely pathogenic
Select item 3233403	NM_005120.3(MED12):c.4448C>T (p.Ser1483Leu)	MED12 (S1483L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 2582305	NM_005120.3(MED12):c.4483_4490del (p.Gln1495fs)	MED12 (Q1495fs)	Deletion (frameshift variant)	Cholestasis-pigmentary retinopathy-cleft palate syndrome +1 more	GPathogenic
Select item 2887229	NM_005120.3(MED12):c.4829A>G (p.Lys1610Arg)	MED12 (K1610R)	Single nucleotide variant (missense variant)	FG syndrome 1 +1 more	GUncertain significance
Select item 2671927	NM_005120.3(MED12):c.5625del (p.Gly1876fs)	MED12 (G1876fs)	Deletion (frameshift variant)	Cholestasis-pigmentary retinopathy-cleft palate syndrome	GPathogenic/Likely pathogenic
Select item 987895	NM_005120.3(MED12):c.5691_5692del (p.Tyr1898fs)	MED12 (Y1898fs)	Microsatellite (frameshift variant)	MED12-related disorder	GPathogenic
Select item 620451	NM_005120.3(MED12):c.5920C>T (p.Gln1974Ter)	MED12 (Q1974*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 3233404	NM_005120.3(MED12):c.5993A>T (p.Tyr1998Phe)	MED12 (Y1998F)	Single nucleotide variant (missense variant)	MED12-related disorder	GUncertain significance
Select item 2441931	NM_005120.3(MED12):c.6211del (p.Gln2071fs)	MED12 (Q2071fs)	Deletion (frameshift variant)	MED12-related disorder +1 more	GLikely pathogenic
Select item 1028860	NM_005120.3(MED12):c.6408+1G>A	MED12	Single nucleotide variant (splice donor variant)	FG syndrome +2 more	GPathogenic/Likely pathogenic