ClinVar for MedGen (Select 813851) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3016264	NM_018834.6(MATR3):c.68C>T (p.Ala23Val)	MATR3 (A23V)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 3014283	NM_018834.6(MATR3):c.998A>G (p.Asn333Ser)	MATR3 (N333S +3 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 3013472	NM_018834.6(MATR3):c.2035A>G (p.Thr679Ala)	LOC126807526, MATR3 (T341A +4 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21 +1 more	GUncertain significance
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 2996096	NM_018834.6(MATR3):c.2076A>G (p.Lys692=)	LOC126807526, MATR3	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2990009	NM_018834.6(MATR3):c.1130-14C>G	MATR3	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2988731	NM_018834.6(MATR3):c.1603-18C>T	MATR3	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2985647	NM_018834.6(MATR3):c.924A>G (p.Gln308=)	MATR3	Single nucleotide variant (synonymous variant +2 more)	Amyotrophic lateral sclerosis type 21	GLikely benign
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 2973169	NM_018834.6(MATR3):c.2363T>C (p.Val788Ala)	MATR3 (V788A +6 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2972438	NM_018834.6(MATR3):c.2237A>G (p.Glu746Gly)	MATR3 (E446G +6 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2967980	NM_018834.6(MATR3):c.1308+18G>A	MATR3	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2911952	NM_018834.6(MATR3):c.2223A>G (p.Thr741=)	MATR3	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2911348	NM_018834.6(MATR3):c.2148+9A>G	LOC126807526, MATR3	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2910897	NM_018834.6(MATR3):c.2149-8A>G	MATR3 (E424G +1 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2910846	NM_018834.6(MATR3):c.2317T>G (p.Tyr773Asp)	MATR3 (Y486D +6 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2909455	NM_018834.6(MATR3):c.1003A>G (p.Thr335Ala)	MATR3 (T35A +3 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2905025	NM_018834.6(MATR3):c.1603-11T>C	MATR3	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2898736	NM_018834.6(MATR3):c.2148+3A>G	LOC126807526, MATR3	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2886880	NM_018834.6(MATR3):c.1308+24_1308+26del	MATR3	Microsatellite (intron variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2886287	NM_018834.6(MATR3):c.897A>C (p.Pro299=)	MATR3	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2885756	NM_018834.6(MATR3):c.2192T>G (p.Leu731Trp)	MATR3 (L443W +6 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2875765	NM_018834.6(MATR3):c.334T>C (p.Leu112=)	MATR3	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2870977	NM_018834.6(MATR3):c.81C>G (p.Gly27=)	MATR3	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2870932	NM_018834.6(MATR3):c.687G>T (p.Arg229Ser)	MATR3 (R229S)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2869053	NM_018834.6(MATR3):c.2156A>G (p.Lys719Arg)	MATR3 (K431R +6 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2867786	NM_018834.6(MATR3):c.1130-15T>A	MATR3	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2867674	NM_018834.6(MATR3):c.2075A>G (p.Lys692Arg)	LOC126807526, MATR3 (K354R +4 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2858946	NM_018834.6(MATR3):c.1596A>G (p.Lys532=)	MATR3	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2853926	NM_018834.6(MATR3):c.1183-4A>T	MATR3	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2852732	NM_018834.6(MATR3):c.776C>T (p.Pro259Leu)	MATR3 (P259L)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2850834	NM_018834.6(MATR3):c.1486C>T (p.Arg496Cys)	MATR3 (R158C +4 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2846407	NM_018834.6(MATR3):c.1498C>T (p.Leu500Phe)	MATR3 (L162F +4 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2844854	NM_018834.6(MATR3):c.2331T>C (p.Asp777=)	MATR3	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2840568	NM_018834.6(MATR3):c.2279A>G (p.Glu760Gly)	MATR3 (E472G +6 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2838376	NM_018834.6(MATR3):c.1603-13_1603-12del	MATR3	Deletion (intron variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2835422	NM_018834.6(MATR3):c.975-9T>G	MATR3	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2833500	NM_018834.6(MATR3):c.2219A>G (p.Asn740Ser)	MATR3 (N450S +6 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2827086	NM_018834.6(MATR3):c.1971G>C (p.Glu657Asp)	LOC126807526, MATR3 (E370D +4 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2824448	NM_018834.6(MATR3):c.90T>C (p.Ala30=)	MATR3	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2822090	NM_018834.6(MATR3):c.2128G>T (p.Ala710Ser)	LOC126807526, MATR3 (A422S +4 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2807926	NM_018834.6(MATR3):c.2302_2304del (p.Glu768del)	MATR3 (E430del +6 more)	Deletion (inframe_deletion)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2798988	NM_018834.6(MATR3):c.1899A>G (p.Glu633=)	LOC126807526, MATR3	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2798066	NM_018834.6(MATR3):c.1343A>G (p.Gln448Arg)	MATR3 (Q161R +4 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2795129	NM_018834.6(MATR3):c.2494-14_2494-11del	MATR3	Deletion (intron variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2786753	NM_018834.6(MATR3):c.575G>A (p.Arg192His)	MATR3 (R192H)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2766462	NM_018834.6(MATR3):c.1531A>T (p.Ser511Cys)	MATR3 (S223C +4 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2759018	NM_018834.6(MATR3):c.2046T>A (p.Ala682=)	LOC126807526, MATR3	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2755526	NM_018834.6(MATR3):c.1603-19T>C	MATR3	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2755131	NM_018834.6(MATR3):c.1925A>G (p.Asp642Gly)	LOC126807526, MATR3 (D304G +4 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2754223	NM_018834.6(MATR3):c.298C>G (p.Gln100Glu)	MATR3 (Q100E)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2752165	NM_018834.6(MATR3):c.1920G>A (p.Lys640=)	LOC126807526, MATR3	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2751681	NM_018834.6(MATR3):c.2348C>A (p.Pro783Gln)	MATR3 (P483Q +6 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2751282	NM_018834.6(MATR3):c.1736T>A (p.Ile579Asn)	LOC126807526, MATR3 (I279N +4 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2748236	NM_018834.6(MATR3):c.1812T>A (p.Ser604=)	MATR3, LOC126807526	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2745372	NM_018834.6(MATR3):c.2327C>T (p.Pro776Leu)	MATR3 (P476L +6 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2744666	NM_018834.6(MATR3):c.1813C>T (p.Pro605Ser)	LOC126807526, MATR3 (P305S +4 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2740034	NM_018834.6(MATR3):c.2494-9T>C	MATR3	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2739676	NM_018834.6(MATR3):c.2148+17T>A	LOC126807526, MATR3	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2738678	NM_018834.6(MATR3):c.1345G>T (p.Ala449Ser)	MATR3 (A111S +4 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2734791	NM_018834.6(MATR3):c.196C>A (p.Gln66Lys)	MATR3 (Q66K)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2729903	NM_018834.6(MATR3):c.1603-18C>G	MATR3	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2724231	NM_018834.6(MATR3):c.2317T>A (p.Tyr773Asn)	MATR3 (Y473N +6 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2724167	NM_018834.6(MATR3):c.63G>C (p.Leu21=)	MATR3	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2720804	NM_018834.6(MATR3):c.1658T>C (p.Leu553Ser)	MATR3 (L265S +4 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2718315	NM_018834.6(MATR3):c.1839T>C (p.Asp613=)	LOC126807526, MATR3	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2716484	NM_018834.6(MATR3):c.2313C>T (p.Asp771=)	MATR3	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2714883	NM_018834.6(MATR3):c.2160C>T (p.Ile720=)	MATR3	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2712716	NM_018834.6(MATR3):c.1130-8C>G	MATR3	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2710018	NM_018834.6(MATR3):c.1924G>A (p.Asp642Asn)	LOC126807526, MATR3 (D304N +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2707802	NM_018834.6(MATR3):c.532T>C (p.Trp178Arg)	MATR3 (W178R)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2706985	NM_018834.6(MATR3):c.2149-5T>C	MATR3 (I425T +1 more)	Single nucleotide variant (intron variant +1 more)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2704953	NM_018834.6(MATR3):c.2203A>C (p.Ile735Leu)	MATR3 (I397L +6 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2702751	NM_018834.6(MATR3):c.815C>G (p.Ala272Gly)	MATR3 (A272G)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2585555	NM_018834.6(MATR3):c.734A>T (p.Lys245Ile)	MATR3 (K245I)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 21	GUncertain significance
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 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 2427665	NC_000005.9:g.(?_138643105)_(138665084_?)dup	MATR3	Duplication	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2420321	NM_018834.6(MATR3):c.2107G>A (p.Asp703Asn)	LOC126807526, MATR3 (D365N +4 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2414612	NM_018834.6(MATR3):c.1602+10A>G	MATR3	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2198405	NM_018834.6(MATR3):c.2199T>C (p.Asn733=)	MATR3	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2194566	NM_018834.6(MATR3):c.2072G>A (p.Gly691Glu)	MATR3, LOC126807526 (G391E +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2191227	NM_018834.6(MATR3):c.2167C>T (p.Leu723Phe)	MATR3 (L385F +6 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2189779	NM_018834.6(MATR3):c.88GCT[4] (p.Ala32_Thr33insAla)	MATR3	Microsatellite (inframe_insertion +1 more)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2185297	NM_018834.6(MATR3):c.2371+10A>G	MATR3	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2183886	NM_018834.6(MATR3):c.1182+17T>G	MATR3	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2180810	NM_018834.6(MATR3):c.1908G>A (p.Glu636=)	LOC126807526, MATR3	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2179598	NM_018834.6(MATR3):c.1734+10A>G	MATR3	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
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 2169228	NM_018834.6(MATR3):c.2496A>G (p.Lys832=)	MATR3	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2165014	NM_018834.6(MATR3):c.1603-9_1603-6del	MATR3	Microsatellite (intron variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2164873	NM_018834.6(MATR3):c.1735-19C>G	LOC126807526, MATR3	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2161962	NM_018834.6(MATR3):c.1183-5del	MATR3	Deletion (intron variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2159707	NM_018834.6(MATR3):c.697G>A (p.Asp233Asn)	MATR3 (D233N)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2155065	NM_018834.6(MATR3):c.1894G>A (p.Gly632Ser)	LOC126807526, MATR3 (G294S +4 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2154288	NM_018834.6(MATR3):c.504G>A (p.Glu168=)	MATR3	Single nucleotide variant (synonymous variant +1 more)	MATR3-related disorder +1 more	GLikely benign
Select item 2154284	NM_018834.6(MATR3):c.420A>G (p.Gln140=)	MATR3	Single nucleotide variant (synonymous variant +1 more)	MATR3-related disorder +1 more	GLikely benign
Select item 2150974	NM_018834.6(MATR3):c.18G>A (p.Gln6=)	MATR3	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2150775	NM_018834.6(MATR3):c.1273A>G (p.Ile425Val)	MATR3 (I137V +4 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21 +1 more	GUncertain significance
Select item 2149517	NM_018834.6(MATR3):c.1602+9C>T	MATR3	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 21	GLikely benign

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