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Links from MedGen

Items: 85

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AFG3L2
(S539C)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 28
+1 more
GUncertain significance
AFG3L2
(K719R)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 28
GUncertain significance
AFG3L2
(T654fs)
Duplication
(frameshift variant)
Spinocerebellar ataxia type 28
Gnot provided
AFG3L2
(Y689N)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 28
Gnot provided
AFG3L2
(D460N)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
AFG3L2
(E428D)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 28
GUncertain significance
AFG3L2
(P688T)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 28
GLikely pathogenic
AFG3L2
(L54R)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 28
GUncertain significance
AFG3L2
(L715F)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 28
GUncertain significance
AFG3L2
(L621V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AFG3L2, TUBB6
(L772I)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia type 28
+3 more
GUncertain significance
AFG3L2
(V212I)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 28
+1 more
GUncertain significance
AFG3L2
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
AFG3L2
(G18V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
AFG3L2
(P688S)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
AFG3L2
(N82H)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 28
GUncertain significance
AFG3L2
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia type 28
GUncertain significance
AFG3L2
(R240W)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 28
+1 more
GConflicting classifications of pathogenicity
AFG3L2, TUBB6
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 28
GUncertain significance
AFG3L2
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia type 28
GUncertain significance
AFG3L2
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia type 28
GLikely benign
AFG3L2
Single nucleotide variant
Spinocerebellar ataxia type 28
GUncertain significance
AFG3L2
Single nucleotide variant
Spinocerebellar ataxia type 28
GBenign
AFG3L2
(A506S)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 28
GUncertain significance
AFG3L2
Single nucleotide variant
(5 prime UTR variant)
Spinocerebellar ataxia type 28
GUncertain significance
AFG3L2
Single nucleotide variant
(5 prime UTR variant)
Spinocerebellar ataxia type 28
GUncertain significance
AFG3L2
(K569T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
AFG3L2
(R599H)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 28
GUncertain significance
AFG3L2
(S373R)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 28
GLikely pathogenic
AFG3L2
(Y689H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
AFG3L2
(I705T)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 28
+1 more
GConflicting classifications of pathogenicity
AFG3L2
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia type 28
+1 more
GBenign/Likely benign
AFG3L2
Single nucleotide variant
(splice donor variant)
Spinocerebellar ataxia type 28
GPathogenic
AFG3L2
(K122I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
AFG3L2
(V191I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
AFG3L2
Single nucleotide variant
(intron variant)
Spinocerebellar ataxia type 28
+2 more
GBenign/Likely benign
AFG3L2, TUBB6
(R783W)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
AFG3L2
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
AFG3L2
Single nucleotide variant
(5 prime UTR variant)
Spinocerebellar ataxia type 28
+1 more
GBenign
AFG3L2
Single nucleotide variant
(5 prime UTR variant)
Spinocerebellar ataxia type 28
GUncertain significance
AFG3L2
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
AFG3L2
Single nucleotide variant
(5 prime UTR variant)
Spinocerebellar ataxia type 28
GUncertain significance
AFG3L2
(P30L)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 28
GUncertain significance
AFG3L2
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
AFG3L2
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
AFG3L2
(K90E)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 28
GUncertain significance
AFG3L2
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
AFG3L2
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
AFG3L2
(A265T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AFG3L2
Single nucleotide variant
(intron variant)
not specified
+1 more
GLikely benign
AFG3L2
Single nucleotide variant
(intron variant)
Spinocerebellar ataxia type 28
GUncertain significance
AFG3L2
(R679C)
Single nucleotide variant
(missense variant)
not specified
+2 more
GLikely benign
AFG3L2
Single nucleotide variant
(intron variant)
Spinocerebellar ataxia type 28
GLikely benign
AFG3L2, TUBB6
(E782D)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia type 28
GUncertain significance
AFG3L2, TUBB6
Single nucleotide variant
(3 prime UTR variant)
Optic atrophy 12
+3 more
GBenign
AFG3L2, TUBB6
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
AFG3L2, TUBB6
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 28
GUncertain significance
AFG3L2, TUBB6
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 28
GBenign
AFG3L2, TUBB6
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 28
GUncertain significance
AFG3L2, TUBB6
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 28
GUncertain significance
AFG3L2, TUBB6
Single nucleotide variant
(3 prime UTR variant +1 more)
Spinocerebellar ataxia type 28
GUncertain significance
AFG3L2, TUBB6
Single nucleotide variant
(3 prime UTR variant +1 more)
Spinocerebellar ataxia type 28
GUncertain significance
AFG3L2
(V723M)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
AFG3L2, TUBB6
(L772F)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia type 28
+3 more
GConflicting classifications of pathogenicity
AFG3L2
(P466L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
AFG3L2
(M625I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
AFG3L2
Single nucleotide variant
(5 prime UTR variant)
not specified
+1 more
GBenign
AFG3L2, TUBB6
Single nucleotide variant
(3 prime UTR variant)
not specified
+1 more
GBenign
AFG3L2
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
AFG3L2
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
AFG3L2
Single nucleotide variant
(intron variant)
not specified
+4 more
GBenign
AFG3L2
Single nucleotide variant
(synonymous variant)
Optic atrophy 12
+4 more
GBenign
AFG3L2
Single nucleotide variant
(synonymous variant)
Optic atrophy 12
+4 more
GBenign
AFG3L2
(E700K)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
AFG3L2
(G671E)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 28
Gnot provided
AFG3L2
(M666T)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 28
Gnot provided
AFG3L2
(T654I)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 28
GLikely pathogenic
AFG3L2
(G671R)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 28
GPathogenic
AFG3L2
(M666R)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 28
GPathogenic
AFG3L2
(M666V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
AFG3L2
(N432T)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 28
GPathogenic
AFG3L2
(R702Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
AFG3L2
(A694E)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 28
GPathogenic
AFG3L2
(S674L)
Indel
(missense variant)
Spinocerebellar ataxia type 28
GPathogenic
AFG3L2
(E691K)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 28
GPathogenic
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