9782[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 554

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 144268	GRCh38/hg38 5q31.1-31.3(chr5:135297294-140106003)x3	BRD8, CDC23 +236 more	Copy number gain	See cases	GPathogenic
Select item 145330	GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3	ECSCR, EGR1 +224 more	Copy number gain	See cases	GPathogenic
Select item 58388	GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	ANKHD1, ANKHD1-DT +377 more	Copy number loss	See cases	GPathogenic
Select item 147882	GRCh38/hg38 5q31.2(chr5:139103408-139683294)x3	CXXC5, CXXC5-AS1 +74 more	Copy number gain	See cases	GUncertain significance
Select item 58117	GRCh38/hg38 5q31.2(chr5:139151411-139493628)x3	DNAJC18, ECSCR +47 more	Copy number gain	See cases	GPathogenic
Select item 369449	NM_199189.2(MATR3):c.-784G>A	LOC129994754, MATR3	Single nucleotide variant	Distal myopathy	GLikely benign
Select item 351109	NM_199189.2(MATR3):c.-649C>T	MATR3	Single nucleotide variant (genic downstream transcript variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 351110	NM_199189.2(MATR3):c.-643A>G	MATR3	Single nucleotide variant (genic downstream transcript variant)	Amyotrophic lateral sclerosis type 21	GBenign
Select item 351111	NM_199189.2(MATR3):c.-610C>G	MATR3	Single nucleotide variant	Amyotrophic lateral sclerosis type 21	GBenign
Select item 904479	NM_199189.2(MATR3):c.-563T>C	MATR3	Single nucleotide variant	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 904480	NM_199189.3(MATR3):c.-422C>T	LOC129994755, MATR3 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 1366675	NC_000005.10:g.139276152T>A	MATR3, SNHG4	Single nucleotide variant (splice donor variant)	Amyotrophic lateral sclerosis type 21 +1 more	GUncertain significance
Select item 351112	NM_199189.3(MATR3):c.-247C>T	MATR3, SNHG4	Single nucleotide variant (non-coding transcript variant +2 more)	Amyotrophic lateral sclerosis type 21	GBenign
Select item 3348614	NM_018834.6(MATR3):c.-178+181A>G	MATR3	Single nucleotide variant (5 prime UTR variant +2 more)	MATR3-related disorder	GLikely benign
Select item 3358807	NM_018834.6(MATR3):c.-178+210C>T	MATR3 (S12F)	Single nucleotide variant (5 prime UTR variant +2 more)	MATR3-related disorder	GUncertain significance
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 3352357	NM_018834.6(MATR3):c.-178+229_-178+230insAA	MATR3	Insertion (5 prime UTR variant +1 more)	MATR3-related disorder	GLikely benign
Select item 3347203	NM_018834.6(MATR3):c.-178+229C>G	MATR3	Single nucleotide variant (5 prime UTR variant +1 more)	MATR3-related disorder	GLikely benign
Select item 1282403	NM_018834.6(MATR3):c.-178+469T>G	MATR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212042	NM_018834.6(MATR3):c.-177-190_-177-188del	MATR3	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1212470	NM_018834.6(MATR3):c.-177-90dup	MATR3	Duplication (intron variant)	not provided	GLikely benign
Select item 351115	NM_018834.6(MATR3):c.-139G>A	MATR3	Single nucleotide variant (5 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 351116	NM_018834.6(MATR3):c.-124T>C	MATR3	Single nucleotide variant (5 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 351117	NM_018834.6(MATR3):c.-103dup	MATR3	Duplication (5 prime UTR variant +1 more)	Distal myopathy +1 more	GBenign
Select item 351118	NM_018834.6(MATR3):c.-56G>A	MATR3	Single nucleotide variant (5 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 21 +1 more	GLikely benign
Select item 263207	NM_018834.6(MATR3):c.-43T>A	MATR3	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 1301101	NM_018834.6(MATR3):c.-42T>A	MATR3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2573352	NM_018834.6(MATR3):c.-16_-15del	MATR3	Deletion (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 351119	NM_018834.6(MATR3):c.-5C>G	MATR3	Single nucleotide variant (5 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 21	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 3123991	NM_018834.6(MATR3):c.56G>A (p.Arg19His)	MATR3 (R19H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 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 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 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 2498982	NM_018834.6(MATR3):c.189A>G (p.Ser63=)	MATR3	Single nucleotide variant (synonymous variant +1 more)	not provided	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 3293469	NM_018834.6(MATR3):c.205G>T (p.Ala69Ser)	MATR3 (A69S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3293470	NM_018834.6(MATR3):c.227C>G (p.Ala76Gly)	MATR3 (A76G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 351122	NM_018834.6(MATR3):c.305G>A (p.Arg102His)	MATR3 (R102H)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 21 +1 more	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 440945	NM_018834.6(MATR3):c.341G>C (p.Ser114Thr)	MATR3 (S114T)	Single nucleotide variant (missense variant +1 more)	MATR3-related disorder	Gnot provided
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 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 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 3349604	NM_018834.6(MATR3):c.403C>T (p.Pro135Ser)	MATR3 (P135S)	Single nucleotide variant (missense variant +1 more)	MATR3-related disorder	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 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 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 2655727	NM_018834.6(MATR3):c.616A>G (p.Ser206Gly)	MATR3 (S206G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1343320	NM_018834.6(MATR3):c.626A>G (p.Gln209Arg)	MATR3 (Q209R)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis	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

<< First< Prev

Page of 6