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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CILK1
(M35I)
Single nucleotide variant
(missense variant +1 more)
Endocrine-cerebro-osteodysplasia syndrome
GUncertain significance
CILK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
CILK1
(G120C)
Single nucleotide variant
(missense variant +1 more)
Endocrine-cerebro-osteodysplasia syndrome
GPathogenic
CILK1
Deletion
(inframe_deletion +1 more)
not specified
+4 more
GBenign/Likely benign
CILK1
(R272Q)
Single nucleotide variant
(missense variant +1 more)
Endocrine-cerebro-osteodysplasia syndrome
GPathogenic
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