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Links from MedGen

Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AASS
Single nucleotide variant
(splice acceptor variant)
Hyperlysinemia
GLikely pathogenic
AASS
(Y302fs)
Duplication
(frameshift variant)
Hyperlysinemia
GPathogenic
AASS
Deletion
Hyperlysinemia
GPathogenic
AASS
(Y578C)
Single nucleotide variant
(missense variant)
Hyperlysinemia
GUncertain significance
AASS
Deletion
Hyperlysinemia
GLikely pathogenic
AASS
(S773T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AASS
(A733fs)
Duplication
(frameshift variant)
Hyperlysinemia
GLikely pathogenic
AASS
(Y700*)
Single nucleotide variant
(nonsense)
Hyperlysinemia
GPathogenic
AASS
(K780T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AASS
(L465V)
Single nucleotide variant
(missense variant)
Hyperlysinemia
GUncertain significance
AASS
(R132H)
Single nucleotide variant
(missense variant)
Hyperlysinemia
GLikely pathogenic
AASS
(M1I)
Single nucleotide variant
(missense variant +1 more)
Hyperlysinemia
GLikely pathogenic
AASS
Single nucleotide variant
(splice acceptor variant)
Hyperlysinemia
GPathogenic/Likely pathogenic
AASS
(I626V)
Single nucleotide variant
(missense variant)
Saccharopinuria
+1 more
GUncertain significance
AASS
(V350M)
Single nucleotide variant
(missense variant)
Hyperlysinemia
+2 more
GUncertain significance
AASS
(P560S)
Single nucleotide variant
(missense variant)
AASS-related disorder
+2 more
GBenign/Likely benign
AASS
(Q921R)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
AASS
(L419R)
Single nucleotide variant
(missense variant)
Hyperlysinemia
GPathogenic
AASS
(R65Q)
Single nucleotide variant
(missense variant)
Hyperlysinemia
GPathogenic
AASS
(S642*)
Single nucleotide variant
(nonsense)
Hyperlysinemia
GPathogenic
AASS
(Q326fs)
Deletion
(frameshift variant)
Hyperlysinemia
GPathogenic
AASS
(I292V)
Single nucleotide variant
(missense variant)
Hyperlysinemia
GPathogenic
AASS
Indel
(splice donor variant)
Hyperlysinemia
GPathogenic
AASS
Deletion
(nonsense)
Hyperlysinemia
GPathogenic
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