C4310711[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2689338	NM_178554.6(KY):c.1895C>G (p.Ala632Gly)	CEP63, KY (A611G +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 7	GUncertain significance
Select item 2441032	NM_178554.6(KY):c.76del (p.Ala26fs)	CEP63, KY (A26fs)	Deletion (frameshift variant)	Myofibrillar myopathy 7	GLikely pathogenic
Select item 2433274	NM_178554.6(KY):c.21C>G (p.Ile7Met)	CEP63, KY (I7M)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 7	GUncertain significance

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