"3billion"[submitter] AND "MED12"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1019021	NM_005120.3(MED12):c.617G>A (p.Arg206Gln)	MED12 (R206Q)	Single nucleotide variant (missense variant)	FG syndrome +2 more	GUncertain significance
Select item 2444269	NM_005120.3(MED12):c.886C>T (p.Arg296Trp)	MED12 (R296W)	Single nucleotide variant (missense variant)	FG syndrome 1	GUncertain significance
Select item 522111	NM_005120.3(MED12):c.887G>A (p.Arg296Gln)	MED12 (R296Q)	Single nucleotide variant (missense variant)	Blepharophimosis - intellectual disability syndrome, MKB type +4 more	GPathogenic/Likely pathogenic
Select item 1526230	NM_005120.3(MED12):c.1746G>A (p.Thr582=)	MED12	Single nucleotide variant (synonymous variant)	X-linked intellectual disability with marfanoid habitus +1 more	GUncertain significance
Select item 1210242	NM_005120.3(MED12):c.3412C>T (p.Arg1138Trp)	MED12 (R1138W)	Single nucleotide variant (missense variant)	MED12-related intellectual disability syndrome +3 more	GPathogenic/Likely pathogenic
Select item 50279	NM_005120.3(MED12):c.3443G>A (p.Arg1148His)	MED12 (R1148H)	Single nucleotide variant (missense variant)	FG syndrome 1 +1 more	GPathogenic
Select item 1201510	NM_005120.3(MED12):c.3646G>A (p.Val1216Met)	MED12 (V1216M)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 213624	NM_005120.3(MED12):c.4147G>A (p.Ala1383Thr)	MED12 (A1383T)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity