C4310696[trait identifier] AND "New York Genome Center"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 996849	NM_138927.4(SON):c.245-485_273delinsGTTG	SON	Indel (splice acceptor variant +1 more)	ZTTK syndrome	GLikely pathogenic
Select item 1679597	NM_138927.4(SON):c.961A>C (p.Ser321Arg)	SON (S321R)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome	GUncertain significance
Select item 1325545	NM_138927.4(SON):c.1096A>G (p.Lys366Glu)	SON (K366E)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome	GUncertain significance
Select item 1325586	NM_138927.4(SON):c.3785C>T (p.Thr1262Ile)	SON (T1262I)	Single nucleotide variant (missense variant +2 more)	SON-related condition +2 more	GUncertain significance
Select item 1098652	NM_138927.4(SON):c.4179G>T (p.Glu1393Asp)	SON (E1393D)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome	GUncertain significance
Select item 252929	NM_138927.4(SON):c.5753_5756del (p.Val1918fs)	SON (V1918fs)	Deletion (frameshift variant +2 more)	ZTTK syndrome +5 more	GPathogenic/Likely pathogenic

ClinVar