ClinVar for MedGen (Select 1717128) - ClinVar - NCBI

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Items: 10

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 16830921.	NM_020831.6(MRTFA):c.1304C>T (p.Ser435Leu) GRCh37: Chr22:40816458 GRCh38: Chr22:40420454	MRTFA	S335L, S370L, S385L, S435L	Immunodeficiency 66, not provided	Uncertain significance (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16830582.	NM_020831.6(MRTFA):c.1657G>A (p.Val553Met) GRCh37: Chr22:40815085 GRCh38: Chr22:40419081	MRTFA	V453M, V488M, V503M, V553M	Immunodeficiency 66, not provided	Uncertain significance (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16830193.	NM_020831.6(MRTFA):c.1907C>T (p.Ala636Val) GRCh37: Chr22:40814835 GRCh38: Chr22:40418831	MRTFA	A536V, A571V, A586V, A636V	not provided, Immunodeficiency 66	Uncertain significance (Mar 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16830154.	NM_020831.6(MRTFA):c.1916G>A (p.Arg639His) GRCh37: Chr22:40814826 GRCh38: Chr22:40418822	MRTFA	R539H, R574H, R589H, R639H	not provided, Immunodeficiency 66	Uncertain significance (Aug 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16830025.	NM_020831.6(MRTFA):c.2023G>A (p.Val675Met) GRCh37: Chr22:40814719 GRCh38: Chr22:40418715	MRTFA	V575M, V610M, V625M, V675M	Immunodeficiency 66, not provided	Uncertain significance (Oct 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16751026.	NM_020831.6(MRTFA):c.2280C>T (p.Thr760=) GRCh37: Chr22:40814462 GRCh38: Chr22:40418458	MRTFA		Immunodeficiency 66, not provided	Conflicting interpretations of pathogenicity (Aug 6, 2021)	criteria provided, conflicting interpretations
Select item 16751017.	NM_020831.6(MRTFA):c.2928G>T (p.Met976Ile) GRCh37: Chr22:40807562 GRCh38: Chr22:40411558	MRTFA	M876I, M911I, M926I, M976I	not provided, Immunodeficiency 66	Uncertain significance (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11696698.	NM_020831.6(MRTFA):c.2245C>A (p.Leu749Ile) GRCh37: Chr22:40814497 GRCh38: Chr22:40418493	MRTFA	L649I, L684I, L699I, L749I	Immunodeficiency 66, not provided	Benign/Likely benign (Oct 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11672309.	NM_020831.6(MRTFA):c.2518-15del GRCh37: Chr22:40813065 GRCh38: Chr22:40417061	MRTFA		not provided, Immunodeficiency 66	Benign/Likely benign (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 86913510.	NM_020831.6(MRTFA):c.2467A>T (p.Lys823Ter) GRCh37: Chr22:40813395 GRCh38: Chr22:40417391	MRTFA	K723, K758, K773, K823	Immunodeficiency 66	Pathogenic (Apr 17, 2020)	no assertion criteria provided