"Baylor Genetics"[submitter] AND "CEP63"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 434753	NM_001353108.3(CEP63):c.935G>A (p.Arg312Gln)	CEP63 (R312Q)	Single nucleotide variant (missense variant +2 more)	Seckel syndrome 6 +2 more	GUncertain significance
Select item 1030913	NM_001353108.3(CEP63):c.1657A>G (p.Lys553Glu)	CEP63 (K553E +1 more)	Single nucleotide variant (missense variant +1 more)	Seckel syndrome 6 +1 more	GUncertain significance
Select item 434752	NM_001353108.3(CEP63):c.1973C>A (p.Pro658His)	CEP63 (P658H +6 more)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GUncertain significance
Select item 1032559	NM_178554.6(KY):c.1901G>T (p.Cys634Phe)	CEP63, KY (C634F +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 7	GUncertain significance
Select item 1031310	NM_178554.6(KY):c.884C>G (p.Ser295Cys)	CEP63, KY (S279C +3 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 7	GUncertain significance
Select item 523199	GRCh37/hg19 3q22.1-22.3(chr3:132642704-136360844)x1	EPHB1, KY +17 more	Copy number loss	Intellectual disability, autosomal dominant 47	GLikely pathogenic

ClinVar