C3807521[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 14002	NM_018834.6(MATR3):c.254C>G (p.Ser85Cys)	MATR3 (S85C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 2433655	NM_018834.6(MATR3):c.358A>G (p.Arg120Gly)	MATR3 (R120G)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 658267	NM_018834.6(MATR3):c.561T>G (p.Asp187Glu)	MATR3 (D187E)	Single nucleotide variant (missense variant +1 more)	MATR3-related disorder +1 more	GUncertain significance
Select item 651450	NM_018834.6(MATR3):c.1132G>A (p.Ala378Thr)	MATR3 (A90T +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 953293	NM_018834.6(MATR3):c.1139A>G (p.Asn380Ser)	MATR3 (N92S +2 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 771597	NM_018834.6(MATR3):c.1778+3A>G	LOC126807526, MATR3	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 21	GConflicting classifications of pathogenicity
Select item 351133	NM_018834.6(MATR3):c.1991A>C (p.Glu664Ala)	LOC126807526, MATR3 (E664A +2 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GConflicting classifications of pathogenicity
Select item 541137	NM_018834.6(MATR3):c.2161G>A (p.Glu721Lys)	MATR3 (E721K +2 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 574594	NM_018834.6(MATR3):c.2234C>T (p.Ala745Val)	MATR3 (A745V +2 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 640602	NM_018834.6(MATR3):c.2273C>A (p.Thr758Lys)	MATR3 (T470K +2 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 581337	NM_018834.6(MATR3):c.2282A>G (p.Asn761Ser)	MATR3 (N761S +2 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
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
Select item 351142	NM_018834.6(MATR3):c.2504A>G (p.Asn835Ser)	MATR3 (N835S +2 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21 +1 more	GConflicting classifications of pathogenicity
Select item 2433654	NM_018834.6(MATR3):c.2521C>G (p.Arg841Gly)	MATR3 (R503G +6 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 652772	NM_018834.6(MATR3):c.2525G>C (p.Arg842Thr)	MATR3 (R554T +2 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance