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Links from MedGen

Items: 1 to 100 of 310

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AMPD2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 63
+1 more
GLikely benign
AMPD2
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
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 63
+2 more
GLikely benign
AMPD2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 63
+1 more
GLikely benign
AMPD2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 63
+1 more
GLikely benign
AMPD2
Single nucleotide variant
(intron variant)
Pontocerebellar hypoplasia type 9
+1 more
GLikely benign
AMPD2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 63
+1 more
GLikely benign
AMPD2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 63
+1 more
GLikely benign
AMPD2
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
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 63
+1 more
GLikely benign
AMPD2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 63
+1 more
GLikely benign
AMPD2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 63
+1 more
GLikely benign
AMPD2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 63
+1 more
GLikely benign
AMPD2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 63
+1 more
GLikely benign
AMPD2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 63
+1 more
GLikely benign
AMPD2
Single nucleotide variant
(synonymous 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
(R200W +4 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 63
+1 more
GUncertain significance
AMPD2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 63
+1 more
GLikely benign
AMPD2
(E661del +4 more)
Microsatellite
(inframe_indel +1 more)
not provided
+1 more
GUncertain significance
AMPD2
(E633Q +4 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 63
+1 more
Gnot provided
AMPD2
(R556S +4 more)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 9
GLikely pathogenic
AHCYL1, AKNAD1
+52 more
Deletion
Hereditary spastic paraplegia 63
+1 more
GPathogenic
AMPD2, LOC126805822
(V441I +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
GLikely benign
AMPD2, LOC126805822
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GUncertain significance
AMPD2
Single nucleotide variant
(intron variant)
Pontocerebellar hypoplasia type 9
+1 more
GLikely benign
AMPD2
Single nucleotide variant
(synonymous variant +2 more)
Hereditary spastic paraplegia 63
+1 more
GLikely benign
AMPD2, LOC126805822
(R428C +4 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 63
+1 more
GUncertain significance
AMPD2
(D258N +4 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 63
+1 more
GUncertain significance
AMPD2
Single nucleotide variant
(intron variant)
Pontocerebellar hypoplasia type 9
+1 more
GLikely benign
AMPD2
Single nucleotide variant
(intron variant)
Pontocerebellar hypoplasia type 9
+1 more
GLikely benign
AMPD2
(A24V +2 more)
Single nucleotide variant
(5 prime UTR variant +2 more)
Pontocerebellar hypoplasia type 9
+1 more
GUncertain significance
AMPD2
(G766D +4 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 63
+1 more
GUncertain significance
AMPD2, LOC126805822
(S493L +4 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 63
+1 more
GUncertain significance
AMPD2
(A105T +2 more)
Single nucleotide variant
(missense variant +2 more)
Pontocerebellar hypoplasia type 9
+1 more
GUncertain significance
AMPD2
(G688C +4 more)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 9
+1 more
GUncertain significance
AMPD2
Single nucleotide variant
(synonymous variant)
Pontocerebellar hypoplasia type 9
+1 more
GLikely benign
AMPD2
(R254H +4 more)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 9
+1 more
GUncertain significance
AMPD2
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
(R92Q +4 more)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 9
+1 more
GUncertain significance
AMPD2, LOC126805822
(P512S +4 more)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 9
+1 more
GUncertain significance
AMPD2
Single nucleotide variant
(intron variant)
Pontocerebellar hypoplasia type 9
+1 more
GUncertain significance
AMPD2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 63
+1 more
GLikely benign
AMPD2
(R724H +4 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 63
+1 more
GUncertain significance
AMPD2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 63
+1 more
GLikely benign
AMPD2
(R105W +4 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 63
+1 more
GUncertain significance
AMPD2
(R40W)
Single nucleotide variant
(missense variant +3 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
AMPD2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 63
+1 more
GLikely benign
AMPD2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 63
+1 more
GLikely benign
AMPD2
(E661K +4 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 63
+1 more
GUncertain significance
AMPD2
(R206C +4 more)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 9
+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)
Hereditary spastic paraplegia 63
+1 more
GLikely benign
AMPD2
(C15S)
Single nucleotide variant
(missense variant +2 more)
Pontocerebellar hypoplasia type 9
+1 more
GUncertain significance
AMPD2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 63
+1 more
GLikely benign
AMPD2, LOC129931109
(N37Y +2 more)
Single nucleotide variant
(missense variant +1 more)
Pontocerebellar hypoplasia type 9
+1 more
GUncertain significance
AMPD2
(R142W +4 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 63
+1 more
GUncertain significance
AMPD2, LOC126805822
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 63
+1 more
GLikely benign
LOC126805822, AMPD2
(R438H +4 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 63
+1 more
GUncertain significance
LOC129931109, AMPD2
(A45V)
Single nucleotide variant
(synonymous variant +2 more)
Pontocerebellar hypoplasia type 9
+1 more
GLikely benign
AMPD2
(Q609E +4 more)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 9
+1 more
GUncertain significance
AMPD2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 63
+1 more
GLikely benign
AMPD2
(P188L +4 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 63
+2 more
GUncertain significance
AMPD2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 63
+1 more
GLikely benign
AMPD2
Single nucleotide variant
(synonymous 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
(R150C +4 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 63
+1 more
GUncertain significance
AMPD2, LOC126805822
(V371A +4 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 63
+1 more
GUncertain significance
AMPD2
(V765M +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
GLikely benign
AMPD2, LOC126805822
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 63
+1 more
GLikely benign
AMPD2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 63
+1 more
GLikely benign
AMPD2
(R116H +2 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary spastic paraplegia 63
+1 more
GUncertain significance
AMPD2, LOC126805822
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 63
+1 more
GLikely benign
AMPD2
(D234N +4 more)
Single nucleotide variant
(missense 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
Indel
(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
(R557G +4 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 63
+1 more
GUncertain significance
AMPD2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 63
+1 more
GLikely benign
AMPD2
(L23P)
Single nucleotide variant
(missense variant +2 more)
Hereditary spastic paraplegia 63
+1 more
GUncertain significance
AMPD2
Single nucleotide variant
(synonymous variant +2 more)
Hereditary spastic paraplegia 63
+1 more
GLikely benign
AMPD2
Duplication
(intron variant)
Hereditary spastic paraplegia 63
+1 more
GBenign
AMPD2, LOC126805822
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 63
+1 more
GLikely benign
AMPD2, LOC126805822
Deletion
(splice acceptor variant)
Hereditary spastic paraplegia 63
+1 more
GLikely pathogenic
AMPD2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 63
+1 more
GLikely benign
AMPD2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 63
+1 more
GLikely benign
AMPD2
(S64A +2 more)
Single nucleotide variant
(5 prime UTR variant +2 more)
Pontocerebellar hypoplasia type 9
+1 more
GUncertain significance
AMPD2
(T545S +4 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 63
+1 more
GUncertain significance
AMPD2
(Q107* +4 more)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 63
+1 more
GPathogenic
AMPD2, LOC129931109
(F17S +1 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary spastic paraplegia 63
+1 more
GUncertain significance
AMPD2
(V211M +4 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 63
+1 more
GUncertain significance
AMPD2
(L16fs)
Duplication
(frameshift variant +2 more)
Hereditary spastic paraplegia 63
+1 more
GPathogenic
AMPD2
(R106W +4 more)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 9
+1 more
GUncertain significance
AMPD2, LOC126805822
Single nucleotide variant
(synonymous variant)
AMPD2-related disorder
+2 more
GLikely benign
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