C3807521[trait identifier] AND "Labcorp Genetics (formerly Invitae), L - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1366675	NC_000005.10:g.139276152T>A	MATR3, SNHG4	Single nucleotide variant (splice donor variant)	not specified +1 more	GUncertain significance
Select item 351120	NM_018834.6(MATR3):c.15C>T (p.Phe5=)	MATR3	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2150974	NM_018834.6(MATR3):c.18G>A (p.Gln6=)	MATR3	Single nucleotide variant (intron variant +1 more)	Amyotrophic lateral sclerosis type 21	GLikely benign
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 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 905261	NM_018834.6(MATR3):c.69G>A (p.Ala23=)	MATR3	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 21	GBenign/Likely 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 1036304	NM_018834.6(MATR3):c.85C>T (p.Leu29Phe)	MATR3 (L29F)	Single nucleotide variant (missense variant +1 more)	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 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 1911437	NM_018834.6(MATR3):c.93T>G (p.Ala31=)	MATR3	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 1149546	NM_018834.6(MATR3):c.102G>A (p.Gln34=)	MATR3	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 1932258	NM_018834.6(MATR3):c.112A>G (p.Met38Val)	MATR3 (M38V)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2014903	NM_018834.6(MATR3):c.153C>T (p.Arg51=)	MATR3	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2138858	NM_018834.6(MATR3):c.165A>G (p.Leu55=)	MATR3	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 1505848	NM_018834.6(MATR3):c.184T>A (p.Ser62Thr)	MATR3 (S62T)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 474079	NM_018834.6(MATR3):c.190T>C (p.Leu64=)	MATR3	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 21	GLikely benign
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 2084814	NM_018834.6(MATR3):c.233C>A (p.Thr78Asn)	MATR3 (T78N)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 21	GUncertain significance
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 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 706015	NM_018834.6(MATR3):c.265A>G (p.Ile89Val)	MATR3 (I89V)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 862259	NM_018834.6(MATR3):c.272G>A (p.Ser91Asn)	MATR3 (S91N)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 351121	NM_018834.6(MATR3):c.291A>G (p.Leu97=)	MATR3	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 21 +1 more	GBenign
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 657091	NM_018834.6(MATR3):c.304C>T (p.Arg102Cys)	MATR3 (R102C)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2022341	NM_018834.6(MATR3):c.306T>G (p.Arg102=)	MATR3	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 1530704	NM_018834.6(MATR3):c.306T>C (p.Arg102=)	MATR3	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 541136	NM_018834.6(MATR3):c.322G>T (p.Ala108Ser)	MATR3 (A108S)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 21 +1 more	GUncertain significance
Select item 1444165	NM_018834.6(MATR3):c.325A>G (p.Ser109Gly)	MATR3 (S109G)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 432705	NM_018834.6(MATR3):c.329A>C (p.Asn110Thr)	MATR3 (N110T)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 21 +1 more	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 126561	NM_018834.6(MATR3):c.344T>G (p.Phe115Cys)	MATR3 (F115C)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 1400201	NM_018834.6(MATR3):c.379C>T (p.Arg127Cys)	MATR3 (R127C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1539871	NM_018834.6(MATR3):c.384T>C (p.Tyr128=)	MATR3	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 351123	NM_018834.6(MATR3):c.393C>A (p.Asp131Glu)	MATR3 (D131E)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2154284	NM_018834.6(MATR3):c.420A>G (p.Gln140=)	MATR3	Single nucleotide variant (intron variant +1 more)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2148444	NM_018834.6(MATR3):c.429A>G (p.Leu143=)	MATR3	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2147580	NM_018834.6(MATR3):c.439A>C (p.Arg147=)	MATR3	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 1051406	NM_018834.6(MATR3):c.449C>G (p.Thr150Ser)	MATR3 (T150S)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 1977064	NM_018834.6(MATR3):c.459C>G (p.Gly153=)	MATR3	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 126563	NM_018834.6(MATR3):c.460C>T (p.Pro154Ser)	MATR3 (P154S)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2029029	NM_018834.6(MATR3):c.462T>C (p.Pro154=)	MATR3	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2070945	NM_018834.6(MATR3):c.474T>C (p.Tyr158=)	MATR3	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 1411045	NM_018834.6(MATR3):c.491C>T (p.Ser164Phe)	MATR3 (S164F)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 838160	NM_018834.6(MATR3):c.493_495del (p.Ala165del)	MATR3 (A165del)	Deletion (inframe_deletion +1 more)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 1693901	NM_018834.6(MATR3):c.499C>T (p.Arg167Trp)	MATR3 (R167W)	Single nucleotide variant (missense variant +1 more)	Neurodegeneration +2 more	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	GLikely benign
Select item 799581	NM_018834.6(MATR3):c.507A>G (p.Pro169=)	MATR3	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 1084147	NM_018834.6(MATR3):c.531T>C (p.Asp177=)	MATR3	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 21	GLikely benign
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 658267	NM_018834.6(MATR3):c.561T>G (p.Asp187Glu)	MATR3 (D187E)	Single nucleotide variant (missense variant +1 more)	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 1387242	NM_018834.6(MATR3):c.580C>T (p.Pro194Ser)	MATR3 (P194S)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 1632265	NM_018834.6(MATR3):c.597G>A (p.Val199=)	MATR3	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 1385500	NM_018834.6(MATR3):c.620G>A (p.Arg207His)	MATR3 (R207H)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 837241	NM_018834.6(MATR3):c.628_630del (p.Glu210del)	MATR3 (E210del)	Deletion (inframe_deletion +1 more)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 1574433	NM_018834.6(MATR3):c.657T>C (p.Tyr219=)	MATR3	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 1566637	NM_018834.6(MATR3):c.663T>C (p.Asp221=)	MATR3	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 1102699	NM_018834.6(MATR3):c.670T>C (p.Leu224=)	MATR3	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 906860	NM_018834.6(MATR3):c.675A>G (p.Arg225=)	MATR3	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 21	GConflicting classifications of pathogenicity
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 1045568	NM_018834.6(MATR3):c.689G>T (p.Cys230Phe)	MATR3 (C230F)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 21	GUncertain significance
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 1434004	NM_018834.6(MATR3):c.719C>T (p.Ser240Leu)	MATR3 (S240L)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 789931	NM_018834.6(MATR3):c.732T>C (p.His244=)	MATR3	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2009318	NM_018834.6(MATR3):c.743G>T (p.Ser248Ile)	MATR3 (S248I)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2142024	NM_018834.6(MATR3):c.747G>A (p.Glu249=)	MATR3	Single nucleotide variant (synonymous variant +1 more)	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 1908489	NM_018834.6(MATR3):c.752A>G (p.Glu251Gly)	MATR3 (E251G)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 1494432	NM_018834.6(MATR3):c.769C>G (p.Pro257Ala)	MATR3 (P257A)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 21	GUncertain significance
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 1944172	NM_018834.6(MATR3):c.786G>C (p.Glu262Asp)	MATR3 (E262D)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 474084	NM_018834.6(MATR3):c.793C>A (p.Leu265Ile)	MATR3 (L265I)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 1554125	NM_018834.6(MATR3):c.795C>T (p.Leu265=)	MATR3	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 1007459	NM_018834.6(MATR3):c.813C>T (p.Gly271=)	MATR3	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 21	GLikely benign
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 1443765	NM_018834.6(MATR3):c.827G>A (p.Ser276Asn)	MATR3 (S276N)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 1392445	NM_018834.6(MATR3):c.832A>G (p.Ile278Val)	MATR3 (I278V)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 935932	NM_018834.6(MATR3):c.857C>T (p.Pro286Leu)	MATR3 (P286L)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2013741	NM_018834.6(MATR3):c.870C>T (p.Pro290=)	MATR3	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2008499	NM_018834.6(MATR3):c.878G>A (p.Cys293Tyr)	MATR3 (C293Y)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 1934746	NM_018834.6(MATR3):c.883A>G (p.Ile295Val)	MATR3 (I295V)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 21	GUncertain significance
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 1484225	NM_018834.6(MATR3):c.898G>A (p.Val300Ile)	MATR3 (V300I)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 2079121	NM_018834.6(MATR3):c.912+11_912+15del	MATR3	Deletion (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 1914756	NM_018834.6(MATR3):c.952C>A (p.Arg318=)	MATR3	Single nucleotide variant (synonymous variant +2 more)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 1443041	NM_018834.6(MATR3):c.960G>T (p.Gln320His)	MATR3 (Q320H +1 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 21 +1 more	GUncertain significance
Select item 2028333	NM_018834.6(MATR3):c.966T>C (p.Leu322=)	MATR3	Single nucleotide variant (synonymous variant +2 more)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 1627645	NM_018834.6(MATR3):c.974+7G>A	MATR3	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2132302	NM_018834.6(MATR3):c.974+20T>C	MATR3	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 1573408	NM_018834.6(MATR3):c.975-15C>T	MATR3	Single nucleotide variant (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 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 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 760842	NM_018834.6(MATR3):c.1010A>G (p.His337Arg)	MATR3 (H337R +1 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 2079709	NM_018834.6(MATR3):c.1013C>G (p.Thr338Arg)	MATR3 (T338R +3 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 1933233	NM_018834.6(MATR3):c.1016+13T>C	MATR3	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 21	GLikely benign
Select item 1550266	NM_018834.6(MATR3):c.1017-16G>A	MATR3	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 21	GLikely benign

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