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Links from MedGen

Items: 1 to 100 of 1211

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SETX
(T1863S)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
(P2600R +1 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 4
+1 more
GLikely benign
SETX
(E2671L +1 more)
Indel
(missense variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 4
+1 more
GBenign
SETX
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 4
+1 more
GLikely benign
SETX
(Y345F)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 4
+1 more
GLikely benign
SETX
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 4
+1 more
GLikely benign
LOC126860782, SETX
(V2410A)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 4
+1 more
GLikely benign
SETX
(A943P)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
(S708R)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
(D828A)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
(Y1793F)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
(R1778Q)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 4
+1 more
GBenign
SETX
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 4
+1 more
GLikely benign
SETX
(A2285T)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
(T66I)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
Single nucleotide variant
(intron variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
Duplication
(intron variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GBenign
SETX
Single nucleotide variant
(intron variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
(A1491G)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
Single nucleotide variant
(intron variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
(S464L)
Inversion
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
(R2456G +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GBenign
SETX
(M627K)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
(N762Y)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GBenign
SETX
(L815F)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
Single nucleotide variant
(intron variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
(T1067P)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
(T1700I)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GBenign
SETX
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
(E1420G)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
(L2613V +1 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
(L2202R)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
(A599T)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
(N860K)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
(V991A)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 4
+1 more
GLikely benign
SETX
(I595K)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
(A771P)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
Microsatellite
(intron variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
(F1090C)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
(L815M)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
(V2013I)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
(D1443N)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
(R1669K)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
(S1394L)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
(E1795D)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
Single nucleotide variant
(intron variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GBenign
SETX
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
(D2358E)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
(D2336V)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
(V1674fs)
Deletion
(frameshift variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GPathogenic
SETX
(T663I)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 4
+1 more
GBenign
SETX
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 4
+1 more
GLikely benign
SETX
(W2585L +1 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
(E1492D)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 4
+1 more
GBenign
SETX
(T1755A)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
(F293C)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
(R1899P)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 4
+1 more
GBenign
SETX
(K1272N)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
(C788W)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 4
+1 more
GBenign
SETX
(L1643F)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 4
+1 more
GBenign
SETX
(K2466Q +1 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
(D1490N)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
(C726Y)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GBenign
SETX
Deletion
(splice donor variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GPathogenic
SETX
(L747F)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
Insertion
(inframe_indel)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
(L2266V)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
(A2079V)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GBenign
SETX
Deletion
(intron variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
Single nucleotide variant
(intron variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
(S1200C)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
(I595V)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GBenign
SETX
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GBenign
SETX
Single nucleotide variant
(intron variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
(D1172G)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
Single nucleotide variant
(intron variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
(A12S)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GBenign
SETX
(L2322V)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
(S1613Y)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
(H58R)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
(K1133N)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
Single nucleotide variant
(intron variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
(R1211H)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GBenign
SETX
Single nucleotide variant
(intron variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GLikely benign
SETX
(M228V)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GBenign
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