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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 95745	NM_015922.3(NSDHL):c.65C>T (p.Thr22Ile)	NSDHL (T22I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 211750	NM_015922.3(NSDHL):c.356G>A (p.Arg119Lys)	NSDHL (R119K)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 703493	NM_015922.3(NSDHL):c.678C>T (p.Phe226=)	NSDHL	Single nucleotide variant (synonymous variant)	NSDHL-related disorder +3 more	GBenign/Likely benign
Select item 1297520	NM_015922.3(NSDHL):c.947C>G (p.Pro316Arg)	NSDHL (P316R)	Single nucleotide variant (missense variant)	Child syndrome +1 more	GUncertain significance
Select item 436068	NM_015922.3(NSDHL):c.1020C>T (p.Cys340=)	NSDHL	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 159448	NM_015922.3(NSDHL):c.1054C>T (p.Leu352=)	NSDHL	Single nucleotide variant (synonymous variant)	CK syndrome +4 more	GBenign/Likely benign
Select item 718214	NM_015922.3(NSDHL):c.1109G>A (p.Arg370Gln)	NSDHL (R370Q)	Single nucleotide variant (missense variant)	NSDHL-related disorder +1 more	GBenign/Likely benign

ClinVar