"Fulgent Genetics, Fulgent Genetics"[submitter] AND "MRTFA"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1167230	NM_020831.6(MRTFA):c.2518-15del	MRTFA	Deletion (intron variant)	Immunodeficiency 66 +1 more	GBenign/Likely benign
Select item 1169669	NM_020831.6(MRTFA):c.2245C>A (p.Leu749Ile)	MRTFA (L649I +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1683002	NM_020831.6(MRTFA):c.2023G>A (p.Val675Met)	MRTFA (V575M +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1683015	NM_020831.6(MRTFA):c.1916G>A (p.Arg639His)	MRTFA (R539H +3 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1683019	NM_020831.6(MRTFA):c.1907C>T (p.Ala636Val)	MRTFA (A536V +3 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1683058	NM_020831.6(MRTFA):c.1657G>A (p.Val553Met)	MRTFA (V453M +3 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1683092	NM_020831.6(MRTFA):c.1304C>T (p.Ser435Leu)	MRTFA (S335L +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

ClinVar