Total 5 pathogenic variants reported for Charcot-Marie-Tooth disease, demyelinating, type 1J

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_002224.4(ITPR3):c.1843G>A (p.Val615Met)	SNV Germline	Chr6:33667921	Pathogenic	Charcot-Marie-Tooth disease, demyelinating, type 1J	No Assertion Criteria Provided	CA363695997	rs_2533046082	1 SubmittersRCV002305677
NM_002224.4(ITPR3):c.7570C>T (p.Arg2524Cys)	SNV Germline	Chr6:33692839	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease, demyelinating, type 1J IMMUNODEFICIENCY 133 WITH ECTODERMAL DYSPLASIA WITH OR WITHOUT PERIPHERAL NEUROPATHY ITPR3-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA363715812	rs_2533186607	6 SubmittersRCV002305678 RCV005603764 RCV003408224 RCV003330107
NM_002224.4(ITPR3):c.4271C>T (p.Thr1424Met)	SNV Germline	Chr6:33680375	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease, demyelinating, type 1J Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA363704359	rs_1561875704	5 SubmittersRCV002305679 RCV004719253
NM_002224.4(ITPR3):c.4218C>G (p.Ile1406Met)	SNV Germline	Chr6:33680127	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease, demyelinating, type 1J not specified	Criteria Provided Conflicting Classifications	CA3761158	rs_200180514	3 SubmittersRCV003427634 RCV003336814 RCV004188760
NM_002224.4(ITPR3):c.445C>T (p.Arg149Trp)	SNV Germline	Chr6:33658745	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease, demyelinating, type 1J	Criteria Provided Conflicting Classifications	CA363683661	rs_1237600471	2 SubmittersRCV003325845 RCV004813227