"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 708850	NM_138927.4(SON):c.3012T>C (p.Ala1004=)	SON	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign/Likely benign
Select item 708851	NM_138927.4(SON):c.4399A>G (p.Ile1467Val)	SON (I1467V)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 708852	NM_138927.4(SON):c.4851A>G (p.Ala1617=)	SON	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign/Likely benign
Select item 252929	NM_138927.4(SON):c.5753_5756del (p.Val1918fs)	SON (V1918fs)	Deletion (frameshift variant +2 more)	Failure to thrive +5 more	GPathogenic/Likely pathogenic
Select item 782792	NM_138927.4(SON):c.5754T>C (p.Val1918=)	SON	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 737496	NM_138927.4(SON):c.5964T>C (p.Pro1988=)	SON	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 1285059	NM_138927.4(SON):c.7105+10C>T	SON	Single nucleotide variant (intron variant)	not provided	GLikely benign

ClinVar