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Links from Gene

Items: 1 to 100 of 310

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AHCY
(R21H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AHCY, ASIP
Single nucleotide variant
(synonymous variant)
ASIP-related condition
GLikely benign
AHCY, ASIP
Single nucleotide variant
(synonymous variant)
ASIP-related condition
GLikely benign
AHCY, ASIP
Single nucleotide variant
(synonymous variant)
ASIP-related condition
GLikely benign
AHCY, ASIP
Single nucleotide variant
(synonymous variant)
ASIP-related condition
GLikely benign
AHCY, ASIP
Single nucleotide variant
(intron variant)
ASIP-related condition
GLikely benign
AHCY, ASIP
(S72P)
Single nucleotide variant
(missense variant)
ASIP-related condition
GUncertain significance
AHCY, ASIP
(V82A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AHCY
(D122N +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AHCY, ASIP
+12 more
Duplication
Obesity and hypopigmentation
GPathogenic
ACTL10, AHCY
+22 more
Deletion
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GPathogenic
ACSS2, ACTL10
+51 more
Deletion
Glutathione synthetase deficiency with 5-oxoprolinuria
GPathogenic
AHCY, ASIP
(S99R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AHCY, ASIP
(I62N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AHCY, ASIP
(N39I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AHCY
(N314S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AHCY
Single nucleotide variant
(synonymous variant)
AHCY-related disorder
GLikely benign
AHCY
Single nucleotide variant
(intron variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GLikely benign
AHCY
Single nucleotide variant
(intron variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GLikely benign
AHCY
Single nucleotide variant
(synonymous variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GLikely benign
AHCY
Single nucleotide variant
(synonymous variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GLikely benign
AHCY
Single nucleotide variant
(synonymous variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GLikely benign
AHCY
Single nucleotide variant
(intron variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GLikely benign
AHCY
Single nucleotide variant
(synonymous variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GLikely benign
AHCY
Single nucleotide variant
(synonymous variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GLikely benign
AHCY
Single nucleotide variant
(synonymous variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GLikely benign
AHCY
Single nucleotide variant
(intron variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GLikely benign
AHCY
Single nucleotide variant
(intron variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GLikely benign
AHCY
Single nucleotide variant
(synonymous variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GLikely benign
AHCY
Indel
(splice donor variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GLikely pathogenic
AHCY
Deletion
(intron variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GUncertain significance
AHCY
Single nucleotide variant
(intron variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GLikely benign
AHCY
Single nucleotide variant
(synonymous variant +1 more)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GLikely benign
AHCY
(R21fs +2 more)
Deletion
(frameshift variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GPathogenic
AHCY
Single nucleotide variant
(intron variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GLikely benign
AHCY
Single nucleotide variant
(intron variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GLikely benign
AHCY
Single nucleotide variant
(intron variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GLikely benign
AHCY
(A15T +1 more)
Single nucleotide variant
(missense variant +1 more)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
+1 more
GUncertain significance
AHCY
Single nucleotide variant
(synonymous variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GLikely benign
AHCY
Single nucleotide variant
(synonymous variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GLikely benign
AHCY
Single nucleotide variant
(intron variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GLikely benign
AHCY
Single nucleotide variant
(intron variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GLikely benign
AHCY
Single nucleotide variant
(intron variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GLikely benign
AHCY
Single nucleotide variant
(synonymous variant +1 more)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GLikely benign
AHCY
Single nucleotide variant
(synonymous variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GLikely benign
AHCY
Single nucleotide variant
(synonymous variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GLikely benign
AHCY
Single nucleotide variant
(synonymous variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GLikely benign
AHCY
Single nucleotide variant
(intron variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GLikely benign
AHCY
(E285K +2 more)
Single nucleotide variant
(missense variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GUncertain significance
AHCY
Single nucleotide variant
(intron variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GLikely benign
AHCY
Single nucleotide variant
(synonymous variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GLikely benign
AHCY
Single nucleotide variant
(intron variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GBenign
AHCY
Deletion
(intron variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GBenign
AHCY
Single nucleotide variant
(synonymous variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GLikely benign
AHCY
Single nucleotide variant
(synonymous variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GLikely benign
AHCY
Single nucleotide variant
(intron variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GLikely benign
AHCY
(V217M +2 more)
Single nucleotide variant
(missense variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GPathogenic
AHCY
(T57I +2 more)
Single nucleotide variant
(missense variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GPathogenic
AHCY
(K168T +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AHCY
(R36W +2 more)
Single nucleotide variant
(missense variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GLikely pathogenic
AHCY
(C321S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AHCY
(H375R +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AHCY
(A23S +2 more)
Single nucleotide variant
(missense variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GUncertain significance
AHCY
(R205W +2 more)
Single nucleotide variant
(missense variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GUncertain significance
AHCY
(T233A +2 more)
Single nucleotide variant
(missense variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GUncertain significance
AHCY
(Y404* +2 more)
Single nucleotide variant
(nonsense)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GUncertain significance
AHCY, ITCH
Duplication
Syndromic multisystem autoimmune disease due to ITCH deficiency
GUncertain significance
AHCY
Duplication
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GUncertain significance
AHCY
Single nucleotide variant
(synonymous variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GLikely benign
AHCY
(Y193C +2 more)
Single nucleotide variant
(missense variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GUncertain significance
AHCY
Single nucleotide variant
(synonymous variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GLikely benign
AHCY
(R207Q +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AHCY, ASIP
(L45P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AHCY, ASIP
(K75E)
Single nucleotide variant
(missense variant)
not specified
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
(A50T +2 more)
Single nucleotide variant
(missense variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
+1 more
GConflicting classifications of pathogenicity
AHCY, ASIP
(V42L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AHCY
Single nucleotide variant
(intron variant)
Inborn genetic diseases
GUncertain significance
AHCY
(S159N +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AHCY, ASIP
(Q61K)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
AHCY
Single nucleotide variant
(synonymous variant +1 more)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
+1 more
GLikely benign
AHCY
Single nucleotide variant
(intron variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GLikely benign
AHCY
(A60V +2 more)
Single nucleotide variant
(missense variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GUncertain significance
AHCY
Single nucleotide variant
(intron variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GLikely benign
AHCY
Single nucleotide variant
(intron variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GLikely benign
AHCY
(A18P +1 more)
Single nucleotide variant
(missense variant +1 more)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GUncertain significance
AHCY
(R301Q +2 more)
Single nucleotide variant
(missense variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GUncertain significance
AHCY
(T119N +2 more)
Single nucleotide variant
(missense variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GUncertain significance
AHCY
Single nucleotide variant
(synonymous variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GLikely benign
AHCY
(I24V +1 more)
Single nucleotide variant
(missense variant +1 more)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GUncertain significance
AHCY
Single nucleotide variant
(synonymous variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GLikely benign
AHCY
Single nucleotide variant
(synonymous variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GLikely benign
AHCY
(R307H +2 more)
Single nucleotide variant
(missense variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GUncertain significance
AHCY
(G134R +2 more)
Single nucleotide variant
(missense variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GUncertain significance
AHCY
Single nucleotide variant
(synonymous variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GLikely benign
AHCY
(V68I +2 more)
Single nucleotide variant
(missense variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GUncertain significance
AHCY
(A218V +2 more)
Single nucleotide variant
(missense variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GUncertain significance
AHCY
(D400N +2 more)
Single nucleotide variant
(missense variant)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GUncertain significance
AHCY
(K350R +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
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