"Baylor Genetics"[submitter] AND "MED12"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 11520	NM_005120.3(MED12):c.2881C>T (p.Arg961Trp)	MED12 (R961W)	Single nucleotide variant (missense variant)	X-linked intellectual disability with marfanoid habitus +6 more	GPathogenic/Likely pathogenic
Select item 1028858	NM_005120.3(MED12):c.3613C>T (p.Arg1205Cys)	MED12 (R1205C)	Single nucleotide variant (missense variant)	X-linked intellectual disability with marfanoid habitus +2 more	GUncertain significance
Select item 1028859	NM_005120.3(MED12):c.3692-7A>G	MED12	Single nucleotide variant (intron variant)	X-linked intellectual disability with marfanoid habitus +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 515584	NM_005120.3(MED12):c.4864-6C>T	MED12	Single nucleotide variant (intron variant)	FG syndrome 1 +2 more	GConflicting classifications of pathogenicity
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 1210252	NM_005120.3(MED12):c.6169C>T (p.Gln2057Ter)	MED12 (Q2057*)	Single nucleotide variant (nonsense)	Cholestasis-pigmentary retinopathy-cleft palate syndrome	GPathogenic
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