Total 2 pathogenic variants reported for Celiac disease

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_005214.5(CTLA4):c.410C>T (p.Pro137Leu)	SNV Germline	Chr2:203870886	Conflicting classifications of pathogenicity	Condition: not provided Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency Hashimoto thyroiditis Celiac disease, susceptibility to, 3 Type 1 diabetes mellitus 12 Systemic lupus erythematosus Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency	Criteria Provided Conflicting Classifications	CA350138741	rs_1553657429	5 SubmittersRCV000498929 RCV000652446 RCV000768197
NM_005214.5(CTLA4):c.457G>A (p.Asp153Asn)	SNV Germline	Chr2:203870933	Conflicting classifications of pathogenicity	Condition: not provided Hashimoto thyroiditis Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency Celiac disease, susceptibility to, 3 Systemic lupus erythematosus Type 1 diabetes mellitus 12	Criteria Provided Conflicting Classifications		rs_1581573970	2 SubmittersRCV000788196 RCV002061137