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Links from MedGen

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MCM10
(F518S +1 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 80 with or without congenital cardiomyopathy
GUncertain significance
MCM10
(R778S +1 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 80 with or without congenital cardiomyopathy
GUncertain significance
MCM10
Single nucleotide variant
(intron variant)
Fetal Cardiomyopathy
GPathogenic
MCM10
(G79fs)
Deletion
(frameshift variant)
Fetal Cardiomyopathy
GPathogenic
MCM10
(R582* +1 more)
Single nucleotide variant
(nonsense)
Immunodeficiency 80 with or without congenital cardiomyopathy
GPathogenic
MCM10
(R426C +1 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 80 with or without congenital cardiomyopathy
GPathogenic
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