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Items: 42

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RAPGEF3, RPAP3-DT
(E922D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC126861517, RAPGEF3
(R850W +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC126861517, RAPGEF3
(M844L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC126861517, RAPGEF3
(I837F +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RAPGEF3
(A744T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RAPGEF3, RPAP3-DT
(R726C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RAPGEF3
(E679K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC130007763, RAPGEF3
(V699I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC130007763, RAPGEF3
(R655W +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RPAP3-DT, RAPGEF3
(I642T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
RAPGEF3
(G556A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RAPGEF3
(V540M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RAPGEF3
(A538D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RAPGEF3
(I522V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RAPGEF3
(N484S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RAPGEF3
(R474Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RAPGEF3
(R466S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RAPGEF3
(D441G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RAPGEF3
(G407S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RAPGEF3
(D378N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RAPGEF3
(S419N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RAPGEF3
(S377G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RAPGEF3
(D370V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RAPGEF3
(P336L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RAPGEF3
(R377Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RAPGEF3
(A331T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RAPGEF3
(R294H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RAPGEF3
(N289S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RAPGEF3
(A272D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RAPGEF3
(L219P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RAPGEF3
(A216V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RAPGEF3
(R222G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RAPGEF3
(A162V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RAPGEF3
(H105P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RAPGEF3
(G145E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RAPGEF3
(S89C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RAPGEF3
(G59E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC48A1, RAPGEF3
(R22H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC48A1, RAPGEF3
(V34M)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SLC48A1, RAPGEF3
(R27P)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
RAPGEF3, SLC48A1
(L23P)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
RAPGEF3, SLC48A1
(W5C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
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