Total 17 pathogenic variants reported for Child syndrome

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_015922.3(NSDHL):c.314C>T (p.Ala105Val)	SNV Germline	ChrX:152858816	Likely pathogenic	Child syndrome Condition: not provided	Criteria Provided Single Submitter	CA341090	rs_104894909	3 SubmittersRCV000012179 RCV002512978
NM_015922.3(NSDHL):c.613G>A (p.Gly205Ser)	SNV Germline	ChrX:152865888	Pathogenic	Child syndrome	No Assertion Criteria Provided	CA341091	rs_104894901	2 SubmittersRCV000012180
NM_015922.3(NSDHL):c.628C>T (p.Gln210Ter)	SNV Germline	ChrX:152865903	Pathogenic	Child syndrome	No Assertion Criteria Provided	CA255882	rs_104894902	1 SubmittersRCV000012181
NM_015922.3(NSDHL):c.262C>T (p.Arg88Ter)	SNV Germline	ChrX:152850418	Pathogenic	Child syndrome	No Assertion Criteria Provided	CA341092	rs_104894903	2 SubmittersRCV000012182
NM_015922.3(NSDHL):c.544G>C (p.Ala182Pro)	SNV Germline	ChrX:152865819	Pathogenic	Child syndrome	No Assertion Criteria Provided	CA255884	rs_104894904	1 SubmittersRCV000012183
NM_015922.3(NSDHL):c.451G>T (p.Glu151Ter)	SNV Germline	ChrX:152862632	Pathogenic	Child syndrome	No Assertion Criteria Provided	CA255885	rs_104894905	1 SubmittersRCV000012184
NM_015922.3(NSDHL):c.1046A>G (p.Tyr349Cys)	SNV Germline	ChrX:152869040	Likely pathogenic	Child syndrome Condition: not provided	Criteria Provided Single Submitter	CA341814	rs_137853863	2 SubmittersRCV000020427 RCV002514124
NM_015922.3(NSDHL):c.595C>T (p.Arg199Cys)	SNV Germline	ChrX:152865870	Conflicting classifications of pathogenicity	Child syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA246761	rs_587784223	3 SubmittersRCV000146963 RCV000179494
NM_015922.3(NSDHL):c.727G>A (p.Val243Met)	SNV Germline	ChrX:152867611	Conflicting classifications of pathogenicity	Child syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA272342	rs_587784224	4 SubmittersRCV000146964 RCV000412977
NM_015922.3(NSDHL):c.757C>T (p.Gln253Ter)	SNV Germline	ChrX:152867641	Pathogenic	Child syndrome	Criteria Provided Single Submitter	CA272345	rs_141571609	1 SubmittersRCV000146965
NM_015922.3(NSDHL):c.906C>A (p.Tyr302Ter)	SNV Germline	ChrX:152868900	Pathogenic	Child syndrome	Criteria Provided Single Submitter	CA272349	rs_587784226	1 SubmittersRCV000146968
NM_015922.3(NSDHL):c.317C>T (p.Ser106Leu)	SNV Germline	ChrX:152858819	Likely pathogenic	Child syndrome	No Assertion Criteria Provided		rs_1602937895	1 SubmittersRCV000985094
NM_015922.3(NSDHL):c.265C>G (p.Gln89Glu)	SNV Germline	ChrX:152850421	Conflicting classifications of pathogenicity	not specified Child syndrome CK syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_145580873	3 SubmittersRCV001819171 RCV002482358 RCV003574889