Total 23 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 SubmittersRCV000012179RCV002512978
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 SubmittersRCV000020427RCV002514124
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

4 SubmittersRCV000146963RCV000179494
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 SubmittersRCV000146964RCV000412977
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
 CA415284818 rs_1602937895

1 SubmittersRCV000985094
NM_015922.3(NSDHL):c.265C>G (p.Gln89Glu) SNV
Germline		 ChrX:152850421 Conflicting classifications of pathogenicity not specified
Condition: not provided
CK syndrome
Child syndrome		 Criteria Provided
Conflicting Classifications
 CA10544735 rs_145580873

3 SubmittersRCV001819171RCV003574889RCV002482358
NM_015922.3(NSDHL):c.790-9T>A SNV
Germline		 ChrX:152868775 Conflicting classifications of pathogenicity Condition: not provided
Child syndrome
CK syndrome		 Criteria Provided
Conflicting Classifications
 CA873244027 rs_1323999679

2 SubmittersRCV002042724RCV005042670
NM_015922.3(NSDHL):c.796C>T (p.His266Tyr) SNV
Germline		 ChrX:152868790 Conflicting classifications of pathogenicity Child syndrome
CK syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA415287049 rs_2521816926

2 SubmittersRCV004725288RCV002461708
NM_015922.3(NSDHL):c.842G>T (p.Arg281Leu) SNV
Germline		 ChrX:152868836 Conflicting classifications of pathogenicity Inborn genetic diseases
Condition: not provided
Child syndrome
CK syndrome		 Criteria Provided
Conflicting Classifications
 CA10544859 rs_782143078

3 SubmittersRCV002932634RCV002932633RCV005045058
NM_015922.3(NSDHL):c.19G>A (p.Glu7Lys) SNV
Germline		 ChrX:152846343 Conflicting classifications of pathogenicity Inborn genetic diseases
CK syndrome
Child syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV004650505RCV005040738
NM_015922.3(NSDHL):c.656C>T (p.Ala219Val) SNV
Germline		 ChrX:152865931 Conflicting classifications of pathogenicity CK syndrome
Child syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005041679RCV005105347
NM_015922.3(NSDHL):c.1100G>A (p.Arg367His) SNV
Germline		 ChrX:152869094 Conflicting classifications of pathogenicity CK syndrome
Child syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005041685RCV005377700