ClinVar for MedGen (Select 1717128) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2671757	NM_020831.6(MRTFA):c.1201G>A (p.Gly401Arg)	MRTFA (G301R +3 more)	Single nucleotide variant (missense variant)	Immunodeficiency 66	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
Select item 1683058	NM_020831.6(MRTFA):c.1657G>A (p.Val553Met)	MRTFA (V453M +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1683019	NM_020831.6(MRTFA):c.1907C>T (p.Ala636Val)	MRTFA (A536V +3 more)	Single nucleotide variant (missense variant)	Immunodeficiency 66 +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 provided +1 more	GUncertain significance
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 1675102	NM_020831.6(MRTFA):c.2280C>T (p.Thr760=)	MRTFA	Single nucleotide variant (synonymous variant)	Immunodeficiency 66 +1 more	GConflicting classifications of pathogenicity
Select item 1675101	NM_020831.6(MRTFA):c.2928G>T (p.Met976Ile)	MRTFA (M876I +3 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 66 +1 more	GUncertain significance
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 1167230	NM_020831.6(MRTFA):c.2518-15del	MRTFA	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 869135	NM_020831.6(MRTFA):c.2467A>T (p.Lys823Ter)	MRTFA (K723* +3 more)	Single nucleotide variant (nonsense)	Immunodeficiency 66	GPathogenic