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Items: 44

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130003172, PFKP
(A8P)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC130003172, PFKP
(G28S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PFKP
(R36K +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PFKP
(S54N +2 more)
Single nucleotide variant
(synonymous variant +2 more)
Inborn genetic diseases
GUncertain significance
PFKP
(R107C +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PFKP
(N113H +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PFKP
(G80S +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PFKP
(S130G +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PFKP
(R111Q +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC126860826, PFKP
(Q126H +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC126860826, PFKP
(Y124C +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC126860826, PFKP
(A136D +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC126860826, PFKP
(L191P +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PFKP
(M252L +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PFKP
(S88L +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PFKP
(R224W +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PFKP
(A59E +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PFKP
(R141K +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PFKP
(P169A +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PFKP
(R316H +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PFKP
(P140L +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PFKP
(N194S +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PFKP
(C411S +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PFKP
(A389V +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PFKP
(V213I +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PFKP
(G271S +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PFKP
(A445T +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PFKP
(A238T +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PFKP
(K286Q +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PFKP
(G444S +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PFKP
(L267F +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PFKP
(A475V +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PFKP
(D378N +5 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PFKP
(D523N +5 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PFKP
(T356M +8 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PFKP
(M525I +8 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PFKP
(F762C +8 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PFKP
(D447N +8 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PFKP
(D765G +8 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PFKP
(R556K +8 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PFKP
(A733V +8 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PFKP
(K470Q +8 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
PFKP
(V732M +8 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PFKP
(V776I +8 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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