Total 3 pathogenic variants reported for Chondrodysplasia-pseudohermaphroditism syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_018194.6(HHAT):c.860G>T (p.Gly287Val) SNV
Germline		 Chr1:210464508 Pathogenic Chondrodysplasia-pseudohermaphroditism syndrome No Assertion Criteria Provided
 CA344755802 rs_1173716957

1 SubmittersRCV001269340
NM_018194.6(HHAT):c.770T>C (p.Leu257Pro) SNV
Germline		 Chr1:210418239 Pathogenic Chondrodysplasia-pseudohermaphroditism syndrome No Assertion Criteria Provided
 CA344754754 rs_2092784129

1 SubmittersRCV001269341
NM_018194.6(HHAT):c.218G>A (p.Trp73Ter) SNV
Germline		 Chr1:210387526 Likely pathogenic Chondrodysplasia-pseudohermaphroditism syndrome No Assertion Criteria Provided

1 SubmittersRCV005208523