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Links from MedGen

Items: 1 to 100 of 145

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126807526, MATR3
(T341A +4 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 21
+1 more
GUncertain significance
FIG4
Single nucleotide variant
(splice acceptor variant)
Amyotrophic lateral sclerosis
GUncertain significance
FIG4
(R388G)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis
GUncertain significance
FIG4
(D48G)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis
GUncertain significance
FIG4
(F279L)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis
GUncertain significance
UNC13A
(T61M)
Single nucleotide variant
(missense variant)
UNC13A-related condition
GBenign
ABCA7
(L101R)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis
GUncertain significance
ALS2
(L48V)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis
GLikely pathogenic
NEFH
Variation
(intron variant)
Amyotrophic lateral sclerosis
GUncertain significance
SQSTM1
(I173V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
NEFH
(E441K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ANXA11
(R461Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ANXA11
(Q132del +1 more)
Microsatellite
(inframe_deletion)
Amyotrophic lateral sclerosis
GUncertain significance
ANXA11
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
SOD1
(I150M)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis
GLikely pathogenic
C9orf72, LOC109504728
+1 more
Microsatellite
Amyotrophic lateral sclerosis
GUncertain significance
C9orf72, LOC109504728
+1 more
Microsatellite
Amyotrophic lateral sclerosis
GPathogenic
TUBA4A
(V390G +1 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis
GUncertain significance
LOC126860782, SETX
(I2412T)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis
GUncertain significance
SETX
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis
GUncertain significance
SETX
(V1089M)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+2 more
GUncertain significance
SETX
(F645Y)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis
GUncertain significance
SETX
(I466M)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis
GUncertain significance
PFN1
(P29L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
OPTN
(R149S)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis
GUncertain significance
MATR3
(T436I +2 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis
GUncertain significance
MATR3
(Q209R)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis
GUncertain significance
GLT8D1
(I370V)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis
GUncertain significance
GLE1, LOC101929270
(E489K)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis
GUncertain significance
FIG4
(R141W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
ERBB4
(K1097E +1 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis
GUncertain significance
DAO
(G12R)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis
GUncertain significance
CCNF, LOC105371050
(V332M +1 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis
GUncertain significance
CCNF
(R140Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
Amyotrophic lateral sclerosis
+1 more
GUncertain significance
DYNC1H1
(Q1369R)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis
GUncertain significance
ALS2
Single nucleotide variant
(splice donor variant)
Infantile-onset ascending hereditary spastic paralysis
GLikely pathogenic
FIG4
(R141Q)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
+1 more
GUncertain significance
SPTLC1
Deletion
(inframe_deletion +1 more)
Amyotrophic lateral sclerosis
GLikely pathogenic
UNC13A
Single nucleotide variant
(intron variant)
UNC13A-related condition
+1 more
GConflicting classifications of pathogenicity
SS18L1
(A190T +1 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis
+2 more
GConflicting classifications of pathogenicity
SETX
(I1016T)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+3 more
GUncertain significance
TNIP1
(A146V +1 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis
GUncertain significance
SETX
(I809V)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis
+2 more
GConflicting classifications of pathogenicity
SCFD1
(T248A +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SARM1
(Y501H)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis
GUncertain significance
NEK1
(N36S)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis
GUncertain significance
NEFH
(V670E)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MOBP
(R172S +1 more)
Single nucleotide variant
(missense variant +2 more)
Amyotrophic lateral sclerosis
GUncertain significance
EWSR1
(G409S +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
EWSR1
(D539N +3 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis
GUncertain significance
ERBB4
(M1059T)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
DNAJC7
(M1T +1 more)
Single nucleotide variant
(missense variant +2 more)
Amyotrophic lateral sclerosis
GUncertain significance
DDX20
(L746S)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis
GUncertain significance
CFAP410
(A221T)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis
GUncertain significance
ATXN2
(I695L +2 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis
GUncertain significance
DAO
(A84T)
Single nucleotide variant
(missense variant)
DAO-related disorder
+1 more
GConflicting classifications of pathogenicity
DCTN1
(I488F +6 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis
GLikely pathogenic
ERBB4
(G1256R +1 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis
GLikely pathogenic
SCFD1
(I3T +1 more)
Single nucleotide variant
(5 prime UTR variant +2 more)
Amyotrophic lateral sclerosis
+1 more
GConflicting classifications of pathogenicity
ATXN2, LOC130008791
Microsatellite
(inframe_insertion +2 more)
Amyotrophic lateral sclerosis
Grisk factor
LOC130056709, NIPA1
Microsatellite
(inframe_insertion +1 more)
Amyotrophic lateral sclerosis
Grisk factor
SPG11
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2X
+3 more
GConflicting classifications of pathogenicity
ALS2
(R741*)
Single nucleotide variant
(nonsense)
Infantile-onset ascending hereditary spastic paralysis
GPathogenic
SOD1, SOD1-DT
Single nucleotide variant
(non-coding transcript variant)
Amyotrophic lateral sclerosis type 1
+1 more
GUncertain significance
SPG11
(R540C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
CHRNA3
(M1V)
Single nucleotide variant
(missense variant +2 more)
Amyotrophic lateral sclerosis
GLikely pathogenic
CHRNA3
(T83fs)
Insertion
(frameshift variant +1 more)
Amyotrophic lateral sclerosis
GLikely pathogenic
CHRNA3
(I237fs)
Insertion
(frameshift variant +1 more)
Amyotrophic lateral sclerosis
GLikely pathogenic
CHRNA3
(L242fs)
Deletion
(frameshift variant +1 more)
Amyotrophic lateral sclerosis
GLikely pathogenic
CHRNA3
(P251R)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis
GUncertain significance
PRPH, TROAP-AS1
(R64*)
Single nucleotide variant
(non-coding transcript variant +1 more)
Amyotrophic lateral sclerosis
GUncertain significance
PON1
(Y236C)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis
GUncertain significance
PNPLA6
(G1010R +3 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis
+1 more
GUncertain significance
PNPLA6
(G178C +2 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis
GUncertain significance
FIG4
(R483Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ELP3
(R343H +4 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis
GUncertain significance
DCTN1
(R15C +1 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+3 more
GConflicting classifications of pathogenicity
DCTN1
(L709P +6 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis
GUncertain significance
DCTN1
(D711E +6 more)
Single nucleotide variant
(missense variant +1 more)
DCTN1-related disorder
+5 more
GUncertain significance
DCTN1
(R798C +6 more)
Single nucleotide variant
(missense variant +1 more)
DCTN1-related disorder
+4 more
GConflicting classifications of pathogenicity
DAO
(G321E)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis
GUncertain significance
DAO
(T71I)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis
GUncertain significance
DAO
(A16T)
Single nucleotide variant
(missense variant)
DAO-related disorder
+1 more
GConflicting classifications of pathogenicity
PFN1
(A13T)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis
GUncertain significance
NEK1
(E562* +6 more)
Single nucleotide variant
(nonsense +1 more)
Amyotrophic lateral sclerosis
GUncertain significance
SETX
(R2083I)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ANG, EGILA
+1 more
(G109fs)
Duplication
(frameshift variant +1 more)
Amyotrophic lateral sclerosis
GUncertain significance
ERBB4
(R103H)
Single nucleotide variant
(missense variant)
ERBB4-related disorder
+2 more
GConflicting classifications of pathogenicity
ERBB4
(G219S)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis
GUncertain significance
ERBB4
(Y53C)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis
GUncertain significance
ERBB4
(V840I)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis
GUncertain significance
CHRNB4
(R39L)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis
GUncertain significance
CHRNB4
(N166K)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis
GBenign
CHRNB4
(A435V)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis
GBenign
CHRNA4
(N219T +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
+1 more
GUncertain significance
SPTLC1
(R132* +2 more)
Single nucleotide variant
(nonsense)
Amyotrophic lateral sclerosis
+2 more
GUncertain significance
OPTN
Single nucleotide variant
(intron variant)
not provided
+5 more
GUncertain significance
CHRNA4
(V151M +1 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis
+1 more
GConflicting classifications of pathogenicity
TBK1
Single nucleotide variant
(splice donor variant)
Amyotrophic lateral sclerosis
+2 more
GPathogenic
TBK1
(E643del)
Microsatellite
(inframe_deletion)
not provided
+3 more
GPathogenic/Likely pathogenic
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