C5193102[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1028986	NM_001318852.2(MAPK8IP3):c.685C>T (p.Pro229Ser)	MAPK8IP3 (P228S +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GUncertain significance
Select item 1028985	NM_001318852.2(MAPK8IP3):c.1012G>A (p.Glu338Lys)	MAPK8IP3 (E337K +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GUncertain significance
Select item 2442239	NM_001318852.2(MAPK8IP3):c.1363G>T (p.Glu455Ter)	MAPK8IP3 (E448* +2 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GPathogenic
Select item 2582578	NM_001318852.2(MAPK8IP3):c.1386G>C (p.Glu462Asp)	MAPK8IP3 (E455D +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GUncertain significance
Select item 2441704	NM_001318852.2(MAPK8IP3):c.2324G>A (p.Trp775Ter)	MAPK8IP3 (W768* +2 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GUncertain significance
Select item 2671906	NM_001318852.2(MAPK8IP3):c.3239A>G (p.Lys1080Arg)	MAPK8IP3 (K1073R +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GUncertain significance

ClinVar