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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 96634	NM_001291867.2(NHS):c.211C>T (p.Pro71Ser)	NHS (P71S)	Single nucleotide variant (missense variant)	Nance-Horan syndrome +3 more	GBenign/Likely benign
Select item 445733	NM_001291867.2(NHS):c.566-52165C>T	NHS (A4V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 435989	NM_001291867.2(NHS):c.739C>T (p.Arg247Cys)	NHS (R247C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 96636	NM_001291867.2(NHS):c.2330T>C (p.Phe777Ser)	NHS (F756S +3 more)	Single nucleotide variant (missense variant)	Nance-Horan syndrome +2 more	GBenign/Likely benign
Select item 1174909	NM_001291867.2(NHS):c.2663T>C (p.Met888Thr)	NHS (M690T +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 96640	NM_001291867.2(NHS):c.3929G>T (p.Gly1310Val)	NHS (G1289V +3 more)	Single nucleotide variant (missense variant)	Nance-Horan syndrome +2 more	GBenign/Likely benign
Select item 167347	NM_001291867.2(NHS):c.4666T>A (p.Ser1556Thr)	NHS (S1535T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign
Select item 1175807	NM_001291867.2(NHS):c.4937C>T (p.Ser1646Phe)	NHS (S1448F +3 more)	Single nucleotide variant (missense variant)	Nance-Horan syndrome +2 more	GConflicting classifications of pathogenicity

ClinVar