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Items: 80

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALPK1
(L11P)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
ALPK1
(D19N)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ALPK1
(A86T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
ALPK1
(G87R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
ALPK1
(A15V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALPK1
(I110L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALPK1
(Y119H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALPK1
(R150P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALPK1
(I154T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALPK1
(K160Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALPK1
(E108G +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ALPK1
(Q198R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALPK1
(D153G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
ALPK1
(G234R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALPK1
(T237M +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome
+2 more
GPathogenic
ALPK1
(I167V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
ALPK1
(S172N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
ALPK1
(A201S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALPK1
(F217L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ALPK1
(R225H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ALPK1
(Y232C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ALPK1
(A331D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALPK1
(K270N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALPK1
(T296A +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ALPK1
(S379N +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ALPK1
(R323G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALPK1
(E339V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
ALPK1
(Q342K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALPK1
(F359L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ALPK1
(D457N +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ALPK1
(I419M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ALPK1
(K431E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALPK1
(C512Y +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALPK1
(D515V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALPK1
(M445T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
ALPK1
(V449I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALPK1
(N538K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ALPK1
(S502C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALPK1
(D526N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ALPK1
(P533T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ALPK1
(L625F +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ALPK1
(M560V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GLikely benign
ALPK1
(P582A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ALPK1
(G611R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALPK1
(V623I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ALPK1
(R640H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ALPK1
(S648C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ALPK1
(G733V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALPK1
(P658S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ALPK1
(R726S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ALPK1
(C740Y +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GBenign/Likely benign
ALPK1
(D753A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ALPK1
(D774N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ALPK1
(D859N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALPK1
(V863I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
ALPK1
(G816S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
ALPK1
(E825K +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ALPK1
(S846C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
ALPK1
(S953F +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ALPK1
(A894T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALPK1
(R973C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ALPK1
(L905P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALPK1
(A907S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALPK1
(A985V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
ALPK1
(R1009Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ALPK1
(V1032F +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ALPK1
(N970H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALPK1
(H1054R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALPK1
(E1058Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALPK1
(G984E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ALPK1
(K1067R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ALPK1
(W998C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALPK1
(I1108T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ALPK1
(S1129G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ALPK1
(T1067M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALPK1
(H1163R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ALPK1
(D1177N +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ALPK1
(Q1202H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALPK1
(F1127L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALPK1
(N1142S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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