"MATR3-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2634680	NM_018834.6(MATR3):c.-178+224G>T	MATR3	Single nucleotide variant (5 prime UTR variant +2 more)	MATR3-related disorder	GUncertain significance
Select item 351121	NM_018834.6(MATR3):c.291A>G (p.Leu97=)	MATR3	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 2154284	NM_018834.6(MATR3):c.420A>G (p.Gln140=)	MATR3	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 21 +1 more	GLikely benign
Select item 2637349	NM_018834.6(MATR3):c.463A>C (p.Thr155Pro)	MATR3 (T155P)	Single nucleotide variant (missense variant +1 more)	MATR3-related disorder	GUncertain significance
Select item 2154288	NM_018834.6(MATR3):c.504G>A (p.Glu168=)	MATR3	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 21 +1 more	GLikely benign
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 706238	NM_018834.6(MATR3):c.1129+9A>G	MATR3	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 21 +1 more	GLikely benign
Select item 651450	NM_018834.6(MATR3):c.1132G>A (p.Ala378Thr)	MATR3 (A90T +2 more)	Single nucleotide variant (missense variant)	MATR3-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2985389	NM_018834.6(MATR3):c.1252C>T (p.Leu418=)	MATR3	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 21 +1 more	GLikely benign
Select item 3013471	NM_018834.6(MATR3):c.1284T>C (p.His428=)	MATR3	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 21 +1 more	GLikely benign
Select item 474078	NM_018834.6(MATR3):c.1377G>A (p.Ala459=)	MATR3	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 21 +1 more	GLikely benign
Select item 3032936	NM_018834.6(MATR3):c.1419G>A (p.Lys473=)	MATR3	Single nucleotide variant (synonymous variant)	MATR3-related disorder	GLikely benign
Select item 3046518	NM_018834.6(MATR3):c.1602+7_1602+8insTG	MATR3	Insertion (intron variant)	MATR3-related disorder	GLikely benign
Select item 3048418	NM_018834.6(MATR3):c.1602+9C>G	MATR3	Single nucleotide variant (intron variant)	MATR3-related disorder	GLikely benign
Select item 727043	NM_018834.6(MATR3):c.1938G>A (p.Gln646=)	LOC126807526, MATR3	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 21 +1 more	GLikely benign
Select item 541138	NM_018834.6(MATR3):c.1953T>C (p.Leu651=)	LOC126807526, MATR3	Single nucleotide variant (synonymous variant)	MATR3-related disorder +1 more	GLikely benign
Select item 1525141	NM_018834.6(MATR3):c.2155A>G (p.Lys719Glu)	MATR3 (K431E +2 more)	Single nucleotide variant (missense variant)	MATR3-related disorder +1 more	GUncertain significance
Select item 474082	NM_018834.6(MATR3):c.2191T>C (p.Leu731=)	MATR3	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 21 +1 more	GBenign
Select item 1196920	NM_018834.6(MATR3):c.2251G>A (p.Ala751Thr)	MATR3 (A413T +2 more)	Single nucleotide variant (missense variant)	MATR3-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1599374	NM_018834.6(MATR3):c.2284G>A (p.Ala762Thr)	MATR3 (A424T +2 more)	Single nucleotide variant (missense variant)	MATR3-related disorder +1 more	GBenign/Likely benign
Select item 2149323	NM_018834.6(MATR3):c.2301T>A (p.Asp767Glu)	MATR3 (D480E +6 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21 +1 more	GUncertain significance
Select item 2635077	NM_018834.6(MATR3):c.2348C>G (p.Pro783Arg)	MATR3 (P445R +6 more)	Single nucleotide variant (missense variant)	MATR3-related disorder	GUncertain significance
Select item 351138	NM_018834.6(MATR3):c.2360A>G (p.Asn787Ser)	MATR3 (N787S +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 3032583	NM_018834.6(MATR3):c.2427T>C (p.Phe809=)	MATR3	Single nucleotide variant (synonymous variant)	MATR3-related disorder	GLikely benign
Select item 2038063	NM_018834.6(MATR3):c.2494-8_2494-5del	MATR3	Microsatellite (intron variant)	Amyotrophic lateral sclerosis type 21 +1 more	GLikely benign
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 351143	NM_018834.6(MATR3):c.2521C>T (p.Arg841Cys)	MATR3 (R841C +2 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21 +2 more	GBenign/Likely benign
Select item 772662	NM_018834.6(MATR3):c.2538A>G (p.Glu846=)	MATR3	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 28