C3698541[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 378127	NM_005120.3(MED12):c.384A>G (p.Gln128=)	MED12	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +6 more	GBenign/Likely benign
Select item 1319901	NM_005120.3(MED12):c.439G>A (p.Ala147Thr)	MED12 (A147T)	Single nucleotide variant (missense variant)	FG syndrome +6 more	GConflicting classifications of pathogenicity
Select item 213631	NM_005120.3(MED12):c.1039A>G (p.Ser347Gly)	MED12 (S347G)	Single nucleotide variant (missense variant)	Blepharophimosis - intellectual disability syndrome, MKB type +5 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 1536383	NM_005120.3(MED12):c.1974+15C>T	MED12	Single nucleotide variant (intron variant)	FG syndrome +4 more	GBenign/Likely benign
Select item 95246	NM_005120.3(MED12):c.2849+14C>T	MED12	Single nucleotide variant (intron variant)	not provided +5 more	GConflicting classifications of pathogenicity
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 387164	NM_005120.3(MED12):c.3942T>C (p.Ser1314=)	MED12	Single nucleotide variant (synonymous variant)	X-linked intellectual disability with marfanoid habitus +6 more	GBenign/Likely benign
Select item 134636	NM_005120.3(MED12):c.4111C>T (p.Pro1371Ser)	MED12 (P1371S)	Single nucleotide variant (missense variant)	FG syndrome 1 +6 more	GLikely benign
Select item 546370	NM_005120.3(MED12):c.4159A>G (p.Ile1387Val)	MED12 (I1387V)	Single nucleotide variant (missense variant)	Blepharophimosis - intellectual disability syndrome, MKB type +6 more	GUncertain significance
Select item 391402	NM_005120.3(MED12):c.5805C>T (p.Ser1935=)	MED12	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 1360673	NM_005120.3(MED12):c.6076A>G (p.Met2026Val)	MED12 (M2026V)	Single nucleotide variant (missense variant)	FG syndrome +4 more	GUncertain significance
Select item 213627	NM_005120.3(MED12):c.6097A>G (p.Met2033Val)	MED12 (M2033V)	Single nucleotide variant (missense variant)	Blepharophimosis - intellectual disability syndrome, MKB type +5 more	GConflicting classifications of pathogenicity
Select item 415265	NM_005120.3(MED12):c.6208CAG[6] (p.Gln2076del)	MED12 (Q2076del)	Microsatellite (inframe_deletion)	X-linked intellectual disability with marfanoid habitus +5 more	GLikely benign