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Items: 85

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MCM7
(E526Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM7
(P515S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM7
(R511C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM7
(E505Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM7
(E503D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM7
(V665I +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
MCM7
(P657L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM7
(Q479R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM7
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
MCM7
(A457T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM7
(N631I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM7
(V448M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM7
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MCM7
(A422T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM7
(E415D +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
MCM7
(R567G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM7
(I387V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM7
(R385C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM7
(M383L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM7
(P372R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM7
(R369W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM7
(Y363C +1 more)
Single nucleotide variant
(missense variant)
Meier-Gorlin syndrome
GPathogenic
MCM7
(I361V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM7
(N529S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM7
(R351Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM7
(R351* +1 more)
Single nucleotide variant
(nonsense)
Meier-Gorlin syndrome
GPathogenic
MCM7
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MCM7
(Q522E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM7
(Q330E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM7
(R499C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM7
(G473S +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
MCM7
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MCM7
(R279C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM7
(Q263H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM7
(V247L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM7
(D245G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM7
(R244T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM7
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MCM7
(R231W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM7
(T405A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM7
(N376K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM7
(D349N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM7
(E348Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM7
(I340V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM7
(R325K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM7
(R126W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM7
(A124V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM7
(L293R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM7
(G115V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM7
(Q114E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM7
(R106C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MCM7
(D269N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM7
(G259A +1 more)
Single nucleotide variant
(missense variant)
Meier-Gorlin syndrome
+9 more
GPathogenic
MCM7
(E258G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM7
(R75H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM7
(S65G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM7
(M205V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM7
(R164H)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
MCM7
(R164C)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
MCM7
(K159N)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
MCM7
(D155Y)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
MCM7
(R153W)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
MCM7
(P141L)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
MCM7
(Q139*)
Single nucleotide variant
(5 prime UTR variant +1 more)
Meier-Gorlin syndrome
GPathogenic
MCM7
(R132C)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
MCM7
(E129Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
MCM7
(R120P)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
MCM7
(V119D)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
MCM7
(G117E)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
MCM7
(R114Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
MCM7
(M109V)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
MCM7
(L107V)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
MCM7
(V101I)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
MCM7
(P86L)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
MCM7
(P86S)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
MCM7
(A80T)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
MCM7
(R72C)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
MCM7
(E57K)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
MCM7
(V46A)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
MCM7
(Q45*)
Single nucleotide variant
(5 prime UTR variant +1 more)
Astigmatism
+8 more
GPathogenic
MCM7
(E44K)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
MCM7
(Q36H)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
MCM7
(G27E)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
MCM7
(G27R)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
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