List of variants in gene NSDHL reported as pathogenic for Child syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP
NM_015922.3(NSDHL):c.1038_1041dup (p.Gly348fs)	rs797045835
NM_015922.3(NSDHL):c.1046A>G (p.Tyr349Cys)	rs137853863
NM_015922.3(NSDHL):c.262C>T (p.Arg88Ter)	rs104894903
NM_015922.3(NSDHL):c.314C>T (p.Ala105Val)	rs104894909
NM_015922.3(NSDHL):c.370G>A (p.Gly124Ser)	rs137853862
NM_015922.3(NSDHL):c.451G>T (p.Glu151Ter)	rs104894905
NM_015922.3(NSDHL):c.544G>C (p.Ala182Pro)	rs104894904
NM_015922.3(NSDHL):c.613G>A (p.Gly205Ser)	rs104894901
NM_015922.3(NSDHL):c.628C>T (p.Gln210Ter)	rs104894902
NM_015922.3(NSDHL):c.757C>T (p.Gln253Ter)	rs141571609
NM_015922.3(NSDHL):c.904del (p.Tyr302fs)	rs587784225
NM_015922.3(NSDHL):c.906C>A (p.Tyr302Ter)	rs587784226

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