C4284592[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 729662	NM_020738.4(KIDINS220):c.4947C>G (p.Asp1649Glu)	KIDINS220 (D1592E +6 more)	Single nucleotide variant (missense variant +1 more)	KIDINS220-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1030723	NM_020738.4(KIDINS220):c.4549C>T (p.Gln1517Ter)	KIDINS220 (Q1461* +6 more)	Single nucleotide variant (nonsense +1 more)	Spastic paraplegia, intellectual disability, nystagmus, and obesity +1 more	GUncertain significance
Select item 1032092	NM_020738.4(KIDINS220):c.2428A>G (p.Ile810Val)	KIDINS220 (I811V +2 more)	Single nucleotide variant (missense variant +1 more)	KIDINS220-related condition +1 more	GUncertain significance
Select item 1032094	NM_020738.4(KIDINS220):c.746C>T (p.Thr249Met)	KIDINS220 (T207M +2 more)	Single nucleotide variant (missense variant +1 more)	KIDINS220-related condition +2 more	GUncertain significance
Select item 1032095	NM_020738.4(KIDINS220):c.578_579delinsTT (p.Gly193Val)	KIDINS220 (G151V +2 more)	Indel (missense variant +1 more)	Spastic paraplegia, intellectual disability, nystagmus, and obesity +1 more	GUncertain significance
Select item 1032091	NM_020738.4(KIDINS220):c.207+3A>G	KIDINS220	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity

ClinVar