"Neuberg Centre For Genomic Medicine, NCGM"[submitter] AND "SON"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2585515	NM_138927.4(SON):c.320dup (p.Ser108fs)	SON (S108fs)	Duplication (frameshift variant +2 more)	ZTTK syndrome	GLikely pathogenic
Select item 3367037	NM_138927.4(SON):c.2461A>G (p.Met821Val)	SON (M821V)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome	GUncertain significance
Select item 3242100	NM_138927.4(SON):c.3194C>G (p.Ser1065Cys)	SON (S1065C)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome	GUncertain significance
Select item 3242067	NM_138927.4(SON):c.3676del (p.Val1226fs)	SON (V1226fs)	Deletion (frameshift variant +2 more)	ZTTK syndrome	GLikely pathogenic
Select item 3362851	NM_138927.4(SON):c.3788C>T (p.Pro1263Leu)	SON (P1263L)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome	GUncertain significance
Select item 2664893	NM_138927.4(SON):c.5572C>T (p.Arg1858Cys)	SON (R1858C)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome	GUncertain significance
Select item 2585199	NM_138927.4(SON):c.5788C>T (p.Arg1930Trp)	SON (R1930W)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance

ClinVar