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Links from Gene

Items: 1 to 100 of 121

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AMPD2, LOC126805822
(G427R +3 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 63
GLikely pathogenic
AMPD2
(P26fs +3 more)
Deletion
(frameshift variant)
Pontocerebellar hypoplasia type 9
+1 more
GLikely pathogenic
AMPD2
(Y662D +3 more)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 9
+1 more
GUncertain significance
AMPD2
(T645I +3 more)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 9
GUncertain significance
AMPD2, LOC126805822
(Q369E +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AMPD2, LOC126805822
Single nucleotide variant
(synonymous variant)
AMPD2-related disorder
GLikely benign
AMPD2, LOC126805822
Single nucleotide variant
(synonymous variant)
AMPD2-related disorder
GLikely benign
AMPD2, LOC126805822
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 63
+1 more
GLikely benign
AMPD2, LOC126805822
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 63
+1 more
GLikely benign
AMPD2, LOC126805822
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 9
+1 more
GLikely benign
AMPD2, LOC126805822
Single nucleotide variant
(intron variant)
Pontocerebellar hypoplasia type 9
+1 more
GLikely benign
AMPD2, LOC126805822
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 63
+1 more
GLikely benign
AMPD2, LOC126805822
(R475C +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AMPD2, LOC126805822
(T391M +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AMPD2, LOC126805822
(I359V +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AMPD2, LOC126805822
(A470T +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AMPD2, LOC126805822
(R444H +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AMPD2, LOC126805822
(Q400P +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC126805822, AMPD2
(V441I +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
AMPD2, LOC126805822
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 63
+1 more
GLikely benign
AMPD2, LOC126805822
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
AMPD2, LOC126805822
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GUncertain significance
AMPD2, LOC126805822
(R428C +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
AMPD2, LOC126805822
(S493L +4 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 63
+1 more
GUncertain significance
AMPD2, LOC126805822
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 9
+1 more
GLikely benign
AMPD2, LOC126805822
(P512S +4 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 63
+1 more
GUncertain significance
AMPD2, LOC126805822
Single nucleotide variant
(intron variant)
Pontocerebellar hypoplasia type 9
+1 more
GLikely benign
AMPD2, LOC126805822
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 9
+1 more
GLikely benign
AMPD2, LOC129931109
(N37Y +2 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 63
+1 more
GUncertain significance
AMPD2, LOC126805822
Single nucleotide variant
(intron variant)
Pontocerebellar hypoplasia type 9
+1 more
GLikely benign
AMPD2, LOC126805822
(R438H +4 more)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 9
+1 more
GUncertain significance
AMPD2, LOC129931109
(A45V)
Single nucleotide variant
(synonymous variant +2 more)
Hereditary spastic paraplegia 63
+1 more
GLikely benign
AMPD2, LOC126805822
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 63
+1 more
GLikely benign
AMPD2, LOC126805822
(V371A +4 more)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 9
+1 more
GUncertain significance
AMPD2, LOC126805822
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 9
+1 more
GLikely benign
AMPD2, LOC126805822
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 9
+2 more
GLikely benign
AMPD2, LOC126805822
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 9
+1 more
GLikely benign
AMPD2, LOC126805822
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 63
+1 more
GLikely benign
AMPD2, LOC126805822
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 9
+1 more
GLikely benign
AMPD2, LOC126805822
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 63
+1 more
GLikely benign
AMPD2, LOC126805822
Deletion
(splice acceptor variant)
Pontocerebellar hypoplasia type 9
+1 more
GLikely pathogenic
AMPD2, LOC129931109
(F17S +1 more)
Single nucleotide variant
(missense variant +2 more)
Pontocerebellar hypoplasia type 9
+1 more
GUncertain significance
AMPD2, LOC126805822
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 63
+1 more
GLikely benign
AMPD2, LOC126805822
(P482L +4 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 63
+1 more
GUncertain significance
AMPD2, LOC126805822
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 63
+1 more
GBenign
AMPD2, LOC126805822
Single nucleotide variant
(intron variant)
Pontocerebellar hypoplasia type 9
+1 more
GLikely benign
AMPD2, LOC129931109
(L50P)
Single nucleotide variant
(synonymous variant +2 more)
Pontocerebellar hypoplasia type 9
+1 more
GLikely benign
AMPD2, LOC126805822
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 63
+1 more
GLikely benign
AMPD2, LOC126805822
(V488M +4 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 63
+2 more
GUncertain significance
AMPD2, LOC126805822
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 63
+1 more
GUncertain significance
AMPD2, LOC126805822
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 63
+1 more
GLikely benign
AMPD2, LOC126805822
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 63
+1 more
GLikely benign
AMPD2, LOC126805822
(A437V +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMPD2, LOC126805822
(R289* +4 more)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 63
+1 more
GPathogenic/Likely pathogenic
AMPD2, LOC126805822
(W452R +3 more)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 9
GUncertain significance
AMPD2, LOC126805822
Single nucleotide variant
(intron variant)
Pontocerebellar hypoplasia type 9
+1 more
GLikely benign
AMPD2, LOC129931109
(A30V)
Single nucleotide variant
(missense variant +2 more)
Hereditary spastic paraplegia 63
+1 more
GLikely benign
AMPD2, LOC126805822
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 9
+1 more
GLikely benign
AMPD2, LOC126805822
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 63
+1 more
GLikely benign
AMPD2, LOC126805822
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 63
+1 more
GLikely benign
AMPD2, LOC126805822
Single nucleotide variant
(intron variant)
not provided
+2 more
GLikely benign
AMPD2, LOC126805822
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 63
+2 more
GBenign/Likely benign
AMPD2, LOC126805822
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 9
+1 more
GLikely benign
AMPD2, LOC126805822
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 63
+1 more
GLikely benign
AMPD2, LOC126805822
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 9
+1 more
GLikely benign
AMPD2, LOC126805822
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 9
+1 more
GLikely benign
AMPD2, LOC129931109
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 63
+1 more
GLikely benign
AMPD2, LOC126805822
Microsatellite
(intron variant)
Pontocerebellar hypoplasia type 9
+1 more
GLikely benign
AMPD2, LOC126805822
(R444G +3 more)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 9
+1 more
GUncertain significance
AMPD2, LOC126805822
(N418K +3 more)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 9
+1 more
GUncertain significance
AMPD2, LOC126805822
Single nucleotide variant
(splice donor variant)
Hereditary spastic paraplegia 63
+1 more
GLikely pathogenic
AMPD2, LOC126805822
(T337M +3 more)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 9
+2 more
GUncertain significance
AMPD2, LOC129931109
(R47S +1 more)
Single nucleotide variant
(missense variant +1 more)
Pontocerebellar hypoplasia type 9
+1 more
GUncertain significance
AMPD2, LOC126805822
(T487S +3 more)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 9
+1 more
GUncertain significance
AMPD2, LOC126805822
(R528H +3 more)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 9
+1 more
GUncertain significance
AMPD2, LOC126805822
(T408S +3 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 63
+1 more
GUncertain significance
AMPD2, LOC126805822
(V391M +3 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 63
+1 more
GUncertain significance
AMPD2, LOC126805822
(P537L +3 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 63
+1 more
GUncertain significance
AMPD2, LOC126805822
(R371H +3 more)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 9
+1 more
GUncertain significance
AMPD2, LOC126805822
(S447F +3 more)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 9
+1 more
GUncertain significance
LOC126805822, AMPD2
(R260W +3 more)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 9
+2 more
GConflicting classifications of pathogenicity
AMPD2, LOC126805822
(H443N +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
AMPD2, LOC126805822
Single nucleotide variant
(intron variant)
not provided
GBenign
AMPD2, LOC126805822
Deletion
(intron variant)
not provided
GBenign
AMPD2, LOC126805822
Single nucleotide variant
(intron variant)
not provided
GBenign
AMPD2, LOC126805822
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AMPD2, LOC126805822
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
AMPD2, LOC126805822
Single nucleotide variant
(intron variant)
Pontocerebellar hypoplasia type 9
+2 more
GLikely benign
AMPD2, LOC126805822
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 63
+2 more
GBenign/Likely benign
AMPD2, LOC126805822
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC126805822, AMPD2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 63
+2 more
GBenign
AMPD2, LOC126805822
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 9
+1 more
GLikely benign
AMPD2, LOC129931109
(A28T)
Single nucleotide variant
(synonymous variant +2 more)
Hereditary spastic paraplegia 63
+3 more
GBenign/Likely benign
AMPD2, LOC126805822
(S347L +3 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 63
GUncertain significance
AMPD2
(Q119R +3 more)
Single nucleotide variant
(missense variant)
Intellectual disability
GLikely benign
AMPD2, LOC126805822
(Q336* +3 more)
Single nucleotide variant
(nonsense)
Pontocerebellar hypoplasia type 9
GPathogenic
AMPD2, LOC126805822
(R481C +3 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 63
+1 more
GUncertain significance
AMPD2, LOC126805822
(I331V +3 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 63
+1 more
GUncertain significance
AMPD2, LOC126805822
(R385* +3 more)
Single nucleotide variant
(nonsense)
Pontoneocerebellar hypoplasia
+2 more
GPathogenic/Likely pathogenic
AMPD2
(D170Y +3 more)
Single nucleotide variant
(missense variant)
Microcephaly
GUncertain significance
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