ClinVar for MedGen (Select 99336) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3383297	NM_014877.4(HELZ):c.*4461C>T	HELZ	Single nucleotide variant (3 prime UTR variant)	Pervasive developmental disorder	GUncertain significance
Select item 1802167	NM_019042.5(PUS7):c.1097_1098del (p.Leu366fs)	PUS7 (L366fs +1 more)	Microsatellite (frameshift variant)	Pervasive developmental disorder +1 more	GPathogenic
Select item 1703000	NM_001349798.2(FBXW7):c.1439A>G (p.Asp480Gly)	FBXW7 (D480G +2 more)	Single nucleotide variant (missense variant)	Pervasive developmental disorder	GLikely pathogenic
Select item 1326847	NM_003128.3(SPTBN1):c.2275_2285del (p.Trp759fs)	SPTBN1 (W746fs +1 more)	Deletion (frameshift variant)	Pervasive developmental disorder +1 more	GPathogenic
Select item 1172537	NM_001393504.1(MAST3):c.1615G>A (p.Gly539Ser)	MAST3 (G510S +11 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 871179	NM_001040424.3(PRDM15):c.2420G>A (p.Cys807Tyr)	PRDM15 (C827Y +2 more)	Single nucleotide variant (missense variant +1 more)	Pervasive developmental disorder +1 more	GLikely pathogenic

ClinVar