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Links from MedGen

Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDC45
(K436fs +3 more)
Deletion
(frameshift variant +1 more)
Meier-Gorlin syndrome 7
GPathogenic
CDC45
(I497V +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CDC45
(R373W +3 more)
Single nucleotide variant
(missense variant +1 more)
Meier-Gorlin syndrome 7
+1 more
GConflicting classifications of pathogenicity
CDC45
(N111fs +1 more)
Microsatellite
(frameshift variant +2 more)
Meier-Gorlin syndrome 7
GPathogenic
CDC45
(P528L +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CDC45
(P495L +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CDC45
(S296Y +3 more)
Single nucleotide variant
(missense variant +1 more)
Meier-Gorlin syndrome 7
GUncertain significance
CDC45
Deletion
Meier-Gorlin syndrome 7
GPathogenic
CDC45
(A298V +3 more)
Single nucleotide variant
(missense variant +1 more)
Meier-Gorlin syndrome 7
GLikely pathogenic
CDC45
Single nucleotide variant
(synonymous variant +2 more)
Meier-Gorlin syndrome 7
GUncertain significance
CDC45
(Q68R +1 more)
Single nucleotide variant
(missense variant +1 more)
Meier-Gorlin syndrome 7
GLikely pathogenic
CDC45
(R554W +3 more)
Single nucleotide variant
(missense variant +1 more)
Meier-Gorlin syndrome 7
+1 more
GConflicting classifications of pathogenicity
CDC45
(R157C +2 more)
Single nucleotide variant
(missense variant +1 more)
Meier-Gorlin syndrome 7
+1 more
GConflicting classifications of pathogenicity
CDC45
(N76H +1 more)
Single nucleotide variant
(missense variant +2 more)
Meier-Gorlin syndrome 7
GLikely pathogenic
CDC45
Single nucleotide variant
(synonymous variant +2 more)
not provided
GUncertain significance
CDC45
(D226G +3 more)
Single nucleotide variant
(missense variant +1 more)
Meier-Gorlin syndrome 7
GLikely pathogenic
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