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Links from MedGen

Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
Right atrial isomerism
GLikely pathogenic
CERS1, GDF1
(L199P)
Single nucleotide variant
(3 prime UTR variant +1 more)
Right atrial isomerism
+2 more
GUncertain significance
CERS1, GDF1
(M364del)
Deletion
(3 prime UTR variant +1 more)
Right atrial isomerism
GPathogenic
GDF1, CERS1
(L259fs)
Deletion
(3 prime UTR variant +1 more)
Right atrial isomerism
+1 more
GLikely pathogenic
CERS1, GDF1
(G200D)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+3 more
GUncertain significance
CERS1, GDF1
(V304fs)
Duplication
(3 prime UTR variant +1 more)
not provided
GPathogenic/Likely pathogenic
CERS1, GDF1
+1 more
(C227*)
Single nucleotide variant
(3 prime UTR variant +1 more)
GDF1-related disorder
+4 more
GPathogenic/Likely pathogenic
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