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Links from MedGen

Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP2A1, CD19
+9 more
Copy number gain
Familial atrioventricular septal defect
+2 more
GPathogenic
CHD7
(V2030I)
Single nucleotide variant
(missense variant +1 more)
CHARGE association
+3 more
GConflicting classifications of pathogenicity
NR1D2
(R100W +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial atrioventricular septal defect
GLikely pathogenic
TBX5
(L135R +1 more)
Single nucleotide variant
(missense variant)
Familial atrioventricular septal defect
GLikely pathogenic
SMARCAL1
(C241*)
Single nucleotide variant
(nonsense)
Schimke immuno-osseous dysplasia
+9 more
GPathogenic
ELN
(A110T +2 more)
Single nucleotide variant
(missense variant)
ELN-related condition
+4 more
GConflicting classifications of pathogenicity
FOXP1
(P568S +5 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GBenign/Likely benign
SMARCAL1
(E848*)
Single nucleotide variant
(nonsense)
not provided
+10 more
GPathogenic
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