"Ambry Genetics"[submitter] AND "MATR3"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2236738	NM_018834.6(MATR3):c.76A>G (p.Ile26Val)	MATR3 (I26V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1388502	NM_018834.6(MATR3):c.256A>G (p.Ile86Val)	MATR3 (I86V)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 21 +1 more	GUncertain significance
Select item 351122	NM_018834.6(MATR3):c.305G>A (p.Arg102His)	MATR3 (R102H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2171855	NM_018834.6(MATR3):c.749A>G (p.Tyr250Cys)	MATR3 (Y250C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2301125	NM_018834.6(MATR3):c.782A>G (p.Gln261Arg)	MATR3 (Q261R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2475972	NM_018834.6(MATR3):c.1138A>C (p.Asn380His)	MATR3 (N93H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321758	NM_018834.6(MATR3):c.1393C>T (p.Pro465Ser)	MATR3 (P127S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1417532	NM_018834.6(MATR3):c.1915A>G (p.Thr639Ala)	LOC126807526, MATR3 (T639A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 474081	NM_018834.6(MATR3):c.2038G>A (p.Asp680Asn)	LOC126807526, MATR3 (D680N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2194566	NM_018834.6(MATR3):c.2072G>A (p.Gly691Glu)	LOC126807526, MATR3 (G391E +4 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21 +1 more	GUncertain significance
Select item 1390229	NM_018834.6(MATR3):c.2135A>G (p.Lys712Arg)	LOC126807526, MATR3 (K712R +2 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21 +1 more	GUncertain significance
Select item 1351334	NM_018834.6(MATR3):c.2264A>G (p.Asn755Ser)	MATR3 (N417S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 906939	NM_018834.6(MATR3):c.2318A>G (p.Tyr773Cys)	MATR3 (Y485C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 772353	NM_018834.6(MATR3):c.2318A>C (p.Tyr773Ser)	MATR3 (Y773S +2 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21 +1 more	GConflicting classifications of pathogenicity