"Revvity Omics, Revvity"[submitter] AND "MED12"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1978843	NM_005120.3(MED12):c.692G>A (p.Arg231Gln)	MED12 (R231Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 213632	NM_005120.3(MED12):c.1264C>T (p.Arg422Trp)	MED12 (R422W)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 2433691	NM_005120.3(MED12):c.1348+1G>T	LOC126863275, MED12	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 423394	NM_005120.3(MED12):c.1682C>T (p.Pro561Leu)	LOC126863275, MED12 (P561L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 2433693	NM_005120.3(MED12):c.1753C>G (p.Arg585Gly)	MED12 (R585G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1324712	NM_005120.3(MED12):c.1861C>T (p.Arg621Ter)	MED12 (R621*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1210238	NM_005120.3(MED12):c.2735C>T (p.Ser912Leu)	MED12 (S912L)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 11520	NM_005120.3(MED12):c.2881C>T (p.Arg961Trp)	MED12 (R961W)	Single nucleotide variant (missense variant)	Intellectual disability +6 more	GPathogenic/Likely pathogenic
Select item 252963	NM_005120.3(MED12):c.3067A>G (p.Ile1023Val)	MED12 (I1023V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2433690	NM_005120.3(MED12):c.3251A>C (p.Tyr1084Ser)	MED12 (Y1084S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 519898	NM_005120.3(MED12):c.5252C>T (p.Pro1751Leu)	MED12 (P1751L)	Single nucleotide variant (missense variant)	FG syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1506434	NM_005120.3(MED12):c.5734C>T (p.Arg1912Cys)	MED12 (R1912C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1461176	NM_005120.3(MED12):c.5966G>A (p.Arg1989His)	MED12 (R1989H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2433692	NM_005120.3(MED12):c.6238C>T (p.Arg2080Trp)	MED12 (R2080W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 515307	NM_005120.3(MED12):c.6336_6362del (p.Gln2115_Gln2123del)	MED12	Deletion (inframe_deletion)	FG syndrome +2 more	GConflicting classifications of pathogenicity