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Links from MedGen

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DIPK1A, RPL5
Single nucleotide variant
(splice acceptor variant +1 more)
Atrial septal defect
+16 more
GPathogenic
ATRX
(G1676C +1 more)
Single nucleotide variant
(missense variant)
Absent speech
+6 more
GLikely pathogenic
Translocation
Low-set, posteriorly rotated ears
+17 more
GPathogenic
COL1A1
(G593S)
Single nucleotide variant
(missense variant)
Abnormality of the skeletal system
+28 more
GPathogenic/Likely pathogenic
BRAF
(E501G +7 more)
Single nucleotide variant
(missense variant)
not provided
+13 more
GPathogenic/Likely pathogenic
ABCC6
(R1339C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
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