ClinVar for OMIM (Select 139185) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 30750	NM_001378964.1(CDON):c.2818A>C (p.Ser940Arg)	CDON (S940R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 30749	NM_001378964.1(CDON):c.2368A>G (p.Thr790Ala)	CDON (T790A)	Single nucleotide variant (missense variant)	Holoprosencephaly 11	GPathogenic
Select item 30747	NM_001378964.1(CDON):c.2065C>G (p.Pro689Ala)	CDON (P689A)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic

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