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Links from MedGen

Items: 1 to 100 of 444

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MATR3
(A23V)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 21
GUncertain significance
MATR3
(N333S +3 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 21
GUncertain significance
LOC126807526, MATR3
(T341A +4 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 21
+1 more
GUncertain significance
MATR3
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 21
+1 more
GLikely benign
LOC126807526, MATR3
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 21
GLikely benign
MATR3
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 21
GLikely benign
MATR3
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 21
GLikely benign
MATR3
Single nucleotide variant
(synonymous variant +2 more)
Amyotrophic lateral sclerosis type 21
GLikely benign
MATR3
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 21
+1 more
GLikely benign
MATR3
(V788A +6 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 21
GUncertain significance
MATR3
(E446G +6 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 21
GUncertain significance
MATR3
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 21
GLikely benign
MATR3
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 21
GLikely benign
LOC126807526, MATR3
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 21
GLikely benign
MATR3
(E424G +1 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 21
GLikely benign
MATR3
(Y486D +6 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 21
GUncertain significance
MATR3
(T35A +3 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 21
GUncertain significance
MATR3
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 21
GLikely benign
LOC126807526, MATR3
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 21
GUncertain significance
MATR3
Microsatellite
(intron variant)
Amyotrophic lateral sclerosis type 21
GLikely benign
MATR3
Single nucleotide variant
(synonymous variant +1 more)
Amyotrophic lateral sclerosis type 21
GLikely benign
MATR3
(L443W +6 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 21
GUncertain significance
MATR3
Single nucleotide variant
(synonymous variant +1 more)
Amyotrophic lateral sclerosis type 21
GLikely benign
MATR3
Single nucleotide variant
(synonymous variant +1 more)
Amyotrophic lateral sclerosis type 21
GLikely benign
MATR3
(R229S)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 21
GUncertain significance
MATR3
(K431R +6 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 21
GUncertain significance
MATR3
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 21
GUncertain significance
LOC126807526, MATR3
(K354R +4 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 21
GUncertain significance
MATR3
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 21
GLikely benign
MATR3
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 21
GLikely benign
MATR3
(P259L)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 21
GUncertain significance
MATR3
(R158C +4 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 21
GUncertain significance
MATR3
(L162F +4 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 21
GUncertain significance
MATR3
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 21
GLikely benign
MATR3
(E472G +6 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 21
GUncertain significance
MATR3
Deletion
(intron variant)
Amyotrophic lateral sclerosis type 21
GLikely benign
MATR3
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 21
GUncertain significance
MATR3
(N450S +6 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 21
GUncertain significance
LOC126807526, MATR3
(E370D +4 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 21
GUncertain significance
MATR3
Single nucleotide variant
(synonymous variant +1 more)
Amyotrophic lateral sclerosis type 21
GLikely benign
LOC126807526, MATR3
(A422S +4 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 21
GUncertain significance
MATR3
(E430del +6 more)
Deletion
(inframe_deletion)
Amyotrophic lateral sclerosis type 21
GUncertain significance
LOC126807526, MATR3
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 21
GLikely benign
MATR3
(Q161R +4 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 21
GUncertain significance
MATR3
Deletion
(intron variant)
Amyotrophic lateral sclerosis type 21
GUncertain significance
MATR3
(R192H)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 21
GUncertain significance
MATR3
(S223C +4 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 21
GUncertain significance
LOC126807526, MATR3
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 21
GLikely benign
MATR3
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 21
GLikely benign
LOC126807526, MATR3
(D304G +4 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 21
GUncertain significance
MATR3
(Q100E)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 21
GUncertain significance
LOC126807526, MATR3
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 21
GLikely benign
MATR3
(P483Q +6 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 21
GUncertain significance
LOC126807526, MATR3
(I279N +4 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 21
GUncertain significance
MATR3, LOC126807526
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 21
GLikely benign
MATR3
(P476L +6 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 21
GUncertain significance
LOC126807526, MATR3
(P305S +4 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 21
GUncertain significance
MATR3
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 21
GLikely benign
LOC126807526, MATR3
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 21
GLikely benign
MATR3
(A111S +4 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 21
GUncertain significance
MATR3
(Q66K)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 21
GUncertain significance
MATR3
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 21
GLikely benign
MATR3
(Y473N +6 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 21
GUncertain significance
MATR3
Single nucleotide variant
(synonymous variant +1 more)
Amyotrophic lateral sclerosis type 21
GLikely benign
MATR3
(L265S +4 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 21
GUncertain significance
LOC126807526, MATR3
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 21
GLikely benign
MATR3
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 21
GLikely benign
MATR3
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 21
GLikely benign
MATR3
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 21
GUncertain significance
LOC126807526, MATR3
(D304N +4 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 21
+1 more
GUncertain significance
MATR3
(W178R)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 21
GUncertain significance
MATR3
(I425T +1 more)
Single nucleotide variant
(intron variant +1 more)
Amyotrophic lateral sclerosis type 21
GUncertain significance
MATR3
(I397L +6 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 21
GUncertain significance
MATR3
(A272G)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 21
GUncertain significance
MATR3
(K245I)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 21
GUncertain significance
MATR3
(R120G)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 21
GUncertain significance
MATR3
(R503G +6 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 21
GUncertain significance
MATR3
Duplication
Amyotrophic lateral sclerosis type 21
GUncertain significance
LOC126807526, MATR3
(D365N +4 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 21
GUncertain significance
MATR3
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 21
GLikely benign
MATR3
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 21
GLikely benign
MATR3, LOC126807526
(G391E +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MATR3
(L385F +6 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 21
GUncertain significance
MATR3
Microsatellite
(inframe_insertion +1 more)
Amyotrophic lateral sclerosis type 21
GUncertain significance
MATR3
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 21
GLikely benign
MATR3
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 21
GLikely benign
LOC126807526, MATR3
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 21
GLikely benign
MATR3
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 21
GLikely benign
MATR3
(Y250C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
MATR3
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 21
GUncertain significance
MATR3
Microsatellite
(intron variant)
Amyotrophic lateral sclerosis type 21
GLikely benign
LOC126807526, MATR3
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 21
GLikely benign
MATR3
Deletion
(intron variant)
Amyotrophic lateral sclerosis type 21
GLikely benign
MATR3
(D233N)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 21
GUncertain significance
LOC126807526, MATR3
(G294S +4 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 21
GUncertain significance
MATR3
Single nucleotide variant
(synonymous variant +1 more)
MATR3-related disorder
+1 more
GLikely benign
MATR3
Single nucleotide variant
(synonymous variant +1 more)
MATR3-related disorder
+1 more
GLikely benign
MATR3
Single nucleotide variant
(synonymous variant +1 more)
Amyotrophic lateral sclerosis type 21
GLikely benign
MATR3
(I137V +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MATR3
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 21
GLikely benign
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