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Items: 37

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AHCY, ASIP
(N39I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AHCY, ASIP
(V42L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AHCY, ASIP
(L45P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AHCY, ASIP
(Q61K)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
AHCY, ASIP
(I62N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AHCY, ASIP
(K75E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AHCY, ASIP
(V82A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AHCY, ASIP
(S99R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AHCY
(P399L +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
AHCY
(T382S +2 more)
Single nucleotide variant
(missense variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
+1 more
GUncertain significance
AHCY
(A369V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
AHCY
Single nucleotide variant
(intron variant)
Inborn genetic diseases
GUncertain significance
AHCY
(K350R +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
AHCY
(H375R +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AHCY
(C321S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AHCY
(I309V +2 more)
Single nucleotide variant
(missense variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
+1 more
GUncertain significance
AHCY
(V316M +2 more)
Single nucleotide variant
(missense variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
+1 more
GUncertain significance
AHCY
(N314S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AHCY
(Y229H +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
AHCY
(E215K +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AHCY
(G238R +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AHCY
(R207Q +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AHCY
(S159N +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AHCY
(K168T +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AHCY
(T130M +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely pathogenic
AHCY
(Y143C +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
AHCY
(G123R +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GLikely benign
AHCY
(D122N +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AHCY
(P70L +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
AHCY
(I64V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
AHCY
(A61V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AHCY
(D58G +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
AHCY
(V64I +2 more)
Single nucleotide variant
(missense variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
+1 more
GUncertain significance
AHCY
(R21C +2 more)
Single nucleotide variant
(missense variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
+1 more
GPathogenic/Likely pathogenic
AHCY
(A50T +2 more)
Single nucleotide variant
(missense variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
+1 more
GConflicting classifications of pathogenicity
AHCY
(R36C +2 more)
Single nucleotide variant
(missense variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
+2 more
GConflicting classifications of pathogenicity
AHCY
Single nucleotide variant
(intron variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
+1 more
GConflicting classifications of pathogenicity
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