Total 4 pathogenic variants reported for Autosomal recessive osteopetrosis 8 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_013322.3(SNX10):c.152G>A (p.Arg51Gln) SNV
Germline		 Chr7:26364575 Pathogenic Autosomal recessive osteopetrosis 8
Condition: not provided		 Criteria Provided
Single Submitter
 CA130726 rs_398123011

3 SubmittersRCV000033149RCV002514140
NM_013322.3(SNX10):c.46C>T (p.Arg16Ter) SNV
Germline		 Chr7:26360996 Pathogenic Autosomal recessive osteopetrosis 8
Condition: not provided		 Criteria Provided
Single Submitter
 CA163269 rs_587777490

2 SubmittersRCV000128452RCV001849913
NM_013322.3(SNX10):c.151C>T (p.Arg51Ter) SNV
Germline		 Chr7:26364574 Pathogenic/Likely pathogenic Autosomal recessive osteopetrosis 8
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1353879401

2 SubmittersRCV000991381RCV002550624