C5562066[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1334177	NM_018245.3(OGDHL):c.2554C>G (p.Pro852Ala)	OGDHL (P453A +4 more)	Single nucleotide variant (missense variant)	Yoon-Bellen neurodevelopmental syndrome	GPathogenic
Select item 402144	NM_018245.3(OGDHL):c.2333C>T (p.Ser778Leu)	OGDHL (S721L +5 more)	Single nucleotide variant (missense variant +1 more)	Abnormal brain morphology	GLikely pathogenic
Select item 1334178	NM_018245.3(OGDHL):c.2018G>A (p.Arg673Gln)	OGDHL (R274Q +4 more)	Single nucleotide variant (missense variant +1 more)	Yoon-Bellen neurodevelopmental syndrome	GPathogenic
Select item 1334179	NM_018245.3(OGDHL):c.1464T>C (p.Val488=)	OGDHL	Single nucleotide variant (synonymous variant +2 more)	Yoon-Bellen neurodevelopmental syndrome	GPathogenic
Select item 1334181	NM_018245.3(OGDHL):c.895A>G (p.Arg299Gly)	OGDHL (R242G +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Yoon-Bellen neurodevelopmental syndrome	GLikely pathogenic
Select item 1334180	NM_018245.3(OGDHL):c.730C>T (p.Arg244Trp)	OGDHL (R187W +1 more)	Single nucleotide variant (missense variant +2 more)	Yoon-Bellen neurodevelopmental syndrome	GPathogenic

ClinVar