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Links from MedGen

Items: 1 to 100 of 237

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPG11
(I2310S +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
+2 more
GUncertain significance
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
+3 more
GLikely benign
LOC130056971, SPG11
(A1756G)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 5
+3 more
GUncertain significance
SPG11
(K121Q)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2X
+3 more
GUncertain significance
SPG11
(S1833A)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SPG11
(Y232C)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
+3 more
GUncertain significance
SPG11
(R336K)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SPG11
(G2005S)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 11
+3 more
GUncertain significance
SPG11
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 5
+3 more
GConflicting classifications of pathogenicity
SPG11
(T1121S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2X
+3 more
GUncertain significance
SPG11
(E774A)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
+4 more
GUncertain significance
SPG11
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2X
+3 more
GUncertain significance
SPG11
(L1301I)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 5
+3 more
GUncertain significance
SPG11
(C2006Y)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 11
+4 more
GUncertain significance
SPG11
(Q906R)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
+3 more
GUncertain significance
SPG11
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 11
+2 more
GUncertain significance
SPG11
(N1369K)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
+3 more
GUncertain significance
SPG11
Duplication
(intron variant)
Amyotrophic lateral sclerosis type 5
+3 more
GBenign/Likely benign
SPG11
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2X
+3 more
GLikely benign
SPG11
(I1230fs)
Insertion
(frameshift variant)
Abnormal central motor function
+3 more
GPathogenic/Likely pathogenic
SPG11
(I212V)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
SPG11
(R44W)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
+3 more
GUncertain significance
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
+1 more
GConflicting classifications of pathogenicity
SPG11
(Q1330R)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 5
GUncertain significance
SPG11
(F84L)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 5
+2 more
GUncertain significance
SPG11
(R1896S)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
+3 more
GUncertain significance
SPG11
(H403Y)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
+3 more
GUncertain significance
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
+3 more
GLikely benign
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
+3 more
GLikely benign
SPG11
(R1980H +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
SPG11
(E2120K +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SPG11
Duplication
(intron variant)
Hereditary spastic paraplegia 11
+4 more
GBenign/Likely benign
SPG11
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2X
+3 more
GConflicting classifications of pathogenicity
SPG11
(F2176L +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SPG11
(R2059W)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease axonal type 2X
+3 more
GUncertain significance
SPG11
(A1305G)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2X
+3 more
GUncertain significance
SPG11
(I2094M +1 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 5
+3 more
GUncertain significance
SPG11
(A1568T)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
+2 more
GUncertain significance
SPG11
(A11P)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 5
+3 more
GConflicting classifications of pathogenicity
SPG11
(R2031Q)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 5
+3 more
GUncertain significance
SPG11
(S2153I +1 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 5
+2 more
GConflicting classifications of pathogenicity
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
+2 more
GConflicting classifications of pathogenicity
SPG11
(H2190L +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2X
+2 more
GUncertain significance
SPG11
(R2205H +1 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 5
+3 more
GUncertain significance
SPG11
(V7F)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2X
+2 more
GUncertain significance
SPG11
(S510N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
SPG11
(S1138G)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
+2 more
GUncertain significance
SPG11
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2X
+2 more
GConflicting classifications of pathogenicity
SPG11
(C1914F)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 5
+2 more
GUncertain significance
SPG11
(R540C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
SPG11
(L1170I)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2X
+2 more
GUncertain significance
SPG11
(R1992Q)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease axonal type 2X
+2 more
GUncertain significance
SPG11
(F2307I +1 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 5
+2 more
GConflicting classifications of pathogenicity
SPG11
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2X
+3 more
GUncertain significance
SPG11
(F750fs)
Deletion
(frameshift variant)
Amyotrophic lateral sclerosis type 5
GPathogenic
SPG11
(K656fs)
Deletion
(frameshift variant)
Amyotrophic lateral sclerosis type 5
+2 more
GPathogenic/Likely pathogenic
SPG11
(Q478*)
Single nucleotide variant
(nonsense)
Amyotrophic lateral sclerosis type 5
GPathogenic
SPG11
(H989R)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
+3 more
GUncertain significance
SPG11
(V1602M)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 5
+2 more
GUncertain significance
SPG11
(Q50H)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2X
+4 more
GUncertain significance
SPG11
(H86D)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
+3 more
GUncertain significance
SPG11
(D1186E)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
+4 more
GConflicting classifications of pathogenicity
SPG11
Deletion
(splice donor variant)
Hereditary spastic paraplegia 11
+2 more
GPathogenic/Likely pathogenic
SPG11
(K1273T)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
+3 more
GUncertain significance
SPG11
(C462R)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
+4 more
GConflicting classifications of pathogenicity
SPG11
(S871fs)
Duplication
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(T69M)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
+4 more
GUncertain significance
SPG11
(N1702K)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 5
+4 more
GUncertain significance
SPG11
(I710V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2X
+3 more
GUncertain significance
SPG11
(H1671Y)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
+3 more
GConflicting classifications of pathogenicity
SPG11
(S374C)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
+3 more
GConflicting classifications of pathogenicity
SPG11
(L1625F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
SPG11
(V65M)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 5
+3 more
GUncertain significance
SPG11
(E2060D)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 11
+3 more
GUncertain significance
SPG11
(L2294P +1 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 5
+3 more
GUncertain significance
SPG11
(P27S)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
+3 more
GUncertain significance
SPG11
(K1733fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 11
+2 more
GPathogenic/Likely pathogenic
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
+3 more
GLikely benign
SPG11
(V793M)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 5
+4 more
GLikely benign
SPG11
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2X
+3 more
GLikely benign
SPG11
(A1298V)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
+3 more
GUncertain significance
SPG11
(I1931M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
SPG11
(V1270D)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 5
+1 more
GPathogenic/Likely pathogenic
SPG11
(C959R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SPG11
(G1479D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
SPG11
(S592L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
SPG11
(N1657S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2X
+4 more
GUncertain significance
SPG11
(V922I)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2X
+4 more
GUncertain significance
SPG11
(R2127H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
SPG11
Duplication
(inframe_insertion)
Hereditary spastic paraplegia 11
+4 more
GUncertain significance
SPG11
(R2173Q +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
+4 more
GUncertain significance
SPG11
(H2123Y +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2X
+3 more
GUncertain significance
SPG11
(A10T)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 5
+4 more
GUncertain significance
SPG11
(I2350V +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2X
+4 more
GUncertain significance
SPG11
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2X
+3 more
GUncertain significance
LOC130056973, SPG11
(A1406S)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
SPG11
(H2131N +1 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 5
+3 more
GUncertain significance
SPG11
(K255E)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
+4 more
GConflicting classifications of pathogenicity
SPG11
(A2442P +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
GUncertain significance
SPG11
(K2200* +1 more)
Single nucleotide variant
(nonsense)
Amyotrophic lateral sclerosis type 5
+5 more
GPathogenic
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