"Medizinische Genetik Mainz, Limbach Genetics GmbH"[submitter] AND "CD - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236205	NM_001260.3(CDK8):c.185C>G (p.Ser62Trp)	CDK8 (S62W)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with hypotonia and behavioral abnormalities	GLikely pathogenic
Select item 3234070	NM_001260.3(CDK8):c.398A>G (p.Tyr133Cys)	CDK8 (Y133C)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with hypotonia and behavioral abnormalities	GUncertain significance