ClinVar (all) for Orgtrack (Select 500263) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 212710	NM_001369369.1(FOXN1):c.146C>T (p.Ser49Leu)	FOXN1 (S49L)	Single nucleotide variant (missense variant)	Autism	GLikely pathogenic
Select item 212709	NM_000693.4(ALDH1A3):c.1514T>C (p.Ile505Thr)	ALDH1A3, ALDH1A3-AS1 (I505T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Autism	GLikely pathogenic
Select item 212708	NC_000016.10:g.90029209_90029210insGCTGCCCCGCAG	GAS8, GAS8-AS1	Insertion (intron variant)	Autism	GLikely benign
Select item 212706	NM_006186.4(NR4A2):c.357G>T (p.Ser119=)	NR4A2	Single nucleotide variant (synonymous variant)	Autism	GBenign
Select item 212705	NM_000372.5(TYR):c.580del (p.Ile194fs)	TYR (I194fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 144106	NM_000372.5(TYR):c.739T>C (p.Cys247Arg)	TYR (C247R)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism +1 more	GLikely pathogenic
Select item 144105	NM_000372.5(TYR):c.551C>G (p.Ser184Ter)	TYR (S184*)	Single nucleotide variant (nonsense)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN	GPathogenic
Select item 144104	NM_000372.5(TYR):c.163T>G (p.Cys55Gly)	TYR (C55G)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism +1 more	Gnot provided

ClinVar