U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALS2
(Q1424*)
Single nucleotide variant
(nonsense)
Juvenile amyotrophic lateral sclerosis
+1 more
GPathogenic
SPG11
(Q1478*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(P1468A)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
GUncertain significance
PLEKHG5
(P630H +3 more)
Single nucleotide variant
(missense variant)
Juvenile amyotrophic lateral sclerosis
GLikely pathogenic
PLEKHG5
(Q550* +3 more)
Single nucleotide variant
(nonsense)
Juvenile amyotrophic lateral sclerosis
GPathogenic
SYNE1
(R44* +2 more)
Single nucleotide variant
(nonsense)
Juvenile amyotrophic lateral sclerosis
GPathogenic
SYNE1
(Q7573* +1 more)
Single nucleotide variant
(nonsense)
Juvenile amyotrophic lateral sclerosis
GPathogenic
FUS
(Y525C +2 more)
Single nucleotide variant
(missense variant +1 more)
Juvenile amyotrophic lateral sclerosis
GPathogenic
ERLIN1
(V10A +1 more)
Single nucleotide variant
(missense variant +2 more)
Juvenile amyotrophic lateral sclerosis
GPathogenic
SPG11
(L1997Q)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 11
+1 more
GUncertain significance
SPG11
(W1455C)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
+6 more
GUncertain significance
SPG11
(L1794P)
Single nucleotide variant
(missense variant)
not provided
+7 more
GConflicting classifications of pathogenicity
FUS
(P525L +2 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 6
+4 more
GPathogenic
VRK1
(R321C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TRPM7
(T1482I)
Single nucleotide variant
(missense variant +1 more)
TRPM7-related condition
+2 more
GConflicting classifications of pathogenicity
Format
Items per page
Sort by
Choose Destination