Total 3 pathogenic variants reported for Acatalasia

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001752.4(CAT):c.903+5G>T	SNV Germline	Chr11:34456207	Conflicting classifications of pathogenicity	Condition: not provided Acatalasia CAT-related disorder	Criteria Provided Conflicting Classifications	CA5944458	rs_147912187	3 SubmittersRCV000952960 RCV001258291 RCV003978244
NM_001752.4(CAT):c.1056+1G>C	SNV Germline	Chr11:34456818	Conflicting classifications of pathogenicity	Acatalasia Intellectual disability	Criteria Provided Conflicting Classifications	CA5944498	rs_571047357	2 SubmittersRCV003141195 RCV005626781