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Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MTHFR
(A222V +1 more)
Single nucleotide variant
(missense variant)
methotrexate response - Toxicity
Gdrug response
CYP1B1
(Y81N)
Single nucleotide variant
(missense variant)
Glaucoma 3A
+5 more
GConflicting classifications of pathogenicity
SCN1A
Single nucleotide variant
(intron variant)
carbamazepine response - Dosage
Gdrug response
PPARG
(P12A +2 more)
Single nucleotide variant
(missense variant +1 more)
Diabetes mellitus, noninsulin-dependent, modifier of
+3 more
Grisk factor
CCR5, CCR5AS
(S185fs)
Deletion
(frameshift variant)
not provided
GBenign
TNF
Single nucleotide variant
etanercept response - Efficacy
Gdrug response
APTX
(W279* +3 more)
Single nucleotide variant
(nonsense +1 more)
Inborn genetic diseases
+2 more
GPathogenic
HRAS, LRRC56
(G12V)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GPathogenic
VWF
(Y1584C)
Single nucleotide variant
(missense variant)
von Willebrand disorder
+7 more
GConflicting classifications of pathogenicity; risk factor
VWF
(P1266L)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
LDLR
Single nucleotide variant
(splice donor variant +1 more)
Hypercholesterolemia, familial, 1
GPathogenic
PLD3
(V232M)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
CHEK2
(T146fs +4 more)
Deletion
(frameshift variant)
Colorectal cancer
+21 more
GPathogenic
ARSA
Single nucleotide variant
(3 prime UTR variant)
not specified
+2 more
GBenign; other
MBTPS2
(R429H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
F8
(A723T)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
+3 more
GPathogenic
MT-TL1
Single nucleotide variant
not specified
+12 more
GPathogenic/Likely pathogenic
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