"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - 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)	Connective tissue disorder +2 more	GConflicting classifications of pathogenicity
Select item 707162	NM_015922.3(NSDHL):c.306C>T (p.Phe102=)	NSDHL	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1579306	NM_015922.3(NSDHL):c.649G>A (p.Glu217Lys)	NSDHL (E217K)	Single nucleotide variant (missense variant)	Connective tissue disorder +1 more	GConflicting classifications of pathogenicity
Select item 1702472	NM_015922.3(NSDHL):c.928C>A (p.Leu310Met)	NSDHL (L310M)	Single nucleotide variant (missense variant)	Connective tissue disorder	GLikely benign
Select item 159458	NM_015922.3(NSDHL):c.942C>T (p.Ile314=)	NSDHL	Single nucleotide variant (synonymous variant)	Connective tissue disorder +1 more	GBenign
Select item 1702523	NM_015922.3(NSDHL):c.979A>G (p.Met327Val)	NSDHL (M327V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 159448	NM_015922.3(NSDHL):c.1054C>T (p.Leu352=)	NSDHL	Single nucleotide variant (synonymous variant)	Child syndrome +4 more	GBenign/Likely benign

ClinVar