C1263846[trait identifier] AND "Lupski Lab, Baylor-Hopkins CMG, Baylor - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 375377	NM_002114.4(HIVEP1):c.4089G>C (p.Met1363Ile)	HIVEP1 (M1363I)	Single nucleotide variant (missense variant)	Attention deficit hyperactivity disorder +3 more	GPathogenic
Select item 56645	NM_152564.5(VPS13B):c.1219C>T (p.Gln407Ter)	VPS13B (Q407*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 375376	NM_001039803.3(CDK20):c.564G>A (p.Trp188Ter)	CDK20 (W188*)	Single nucleotide variant (nonsense +2 more)	Attention deficit hyperactivity disorder +3 more	GPathogenic
Select item 242891	NM_004521.3(KIF5B):c.2252A>G (p.His751Arg)	KIF5B (H751R)	Single nucleotide variant (missense variant)	Attention deficit hyperactivity disorder +4 more	GLikely pathogenic
Select item 242885	NM_138425.4(C12orf57):c.53-2A>G	C12orf57	Single nucleotide variant (5 prime UTR variant +2 more)	Temtamy syndrome	GPathogenic
Select item 242889	NM_031442.4(TMEM47):c.35G>C (p.Arg12Pro)	TMEM47 (R12P)	Single nucleotide variant (missense variant)	Cerebellar atrophy +5 more	GLikely pathogenic
Select item 242888	NM_177433.3(MAGED2):c.1003del (p.Gln335fs)	MAGED2 (Q335fs)	Deletion (frameshift variant)	Cerebellar atrophy +5 more	GLikely pathogenic

ClinVar