Total 37 pathogenic variants reported for Hyaline fibromatosis syndrome

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_058172.6(ANTXR2):c.1179G>A (p.Glu393=)	SNV Germline	Chr4:79983878	Pathogenic	Hyaline fibromatosis syndrome	No Assertion Criteria Provided	CA355006	rs_546102223	1 SubmittersRCV000002716
NM_058172.6(ANTXR2):c.1142A>G (p.Tyr381Cys)	SNV Germline	Chr4:79983915	Pathogenic	Hyaline fibromatosis syndrome	No Assertion Criteria Provided	CA252343	rs_137852901	1 SubmittersRCV000002717
NM_058172.6(ANTXR2):c.314G>A (p.Gly105Asp)	SNV Germline	Chr4:80055996	Pathogenic	Hyaline fibromatosis syndrome	No Assertion Criteria Provided	CA252345	rs_137852902	1 SubmittersRCV000002718
NM_058172.6(ANTXR2):c.986T>G (p.Leu329Arg)	SNV Germline	Chr4:80008576	Pathogenic	Hyaline fibromatosis syndrome	No Assertion Criteria Provided	CA252347	rs_137852903	1 SubmittersRCV000002719
NM_058172.6(ANTXR2):c.658G>T (p.Glu220Ter)	SNV Germline	Chr4:80036011	Pathogenic	Hyaline fibromatosis syndrome	No Assertion Criteria Provided	CA252349	rs_137852904	1 SubmittersRCV000002720
NM_058172.6(ANTXR2):c.566T>C (p.Ile189Thr)	SNV Germline	Chr4:80054342	Pathogenic	Hyaline fibromatosis syndrome	No Assertion Criteria Provided	CA252351	rs_137852905	1 SubmittersRCV000002721
NM_058172.6(ANTXR2):c.241T>C (p.Ser81Pro)	SNV Germline	Chr4:80069491	Likely pathogenic	Hyaline fibromatosis syndrome	Criteria Provided Single Submitter	CA276122	rs_797045029	1 SubmittersRCV000191062
NM_058172.6(ANTXR2):c.134T>C (p.Leu45Pro)	SNV Germline	Chr4:80072427	Pathogenic/Likely pathogenic	Condition: not provided Hyaline fibromatosis syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10602936	rs_886041401	9 SubmittersRCV000369962 RCV001261563
NM_058172.6(ANTXR2):c.1347+9C>T	SNV Germline	Chr4:79977998	Conflicting classifications of pathogenicity	Hyaline fibromatosis syndrome Condition: not provided ANTXR2-related disorder	Criteria Provided Conflicting Classifications	CA2981641	rs_112023055	3 SubmittersRCV000394603 RCV000898543 RCV003912486
NM_058172.6(ANTXR2):c.195C>T (p.Phe65=)	SNV Germline	Chr4:80071612	Conflicting classifications of pathogenicity	Condition: not provided Hyaline fibromatosis syndrome	Criteria Provided Conflicting Classifications	CA2982029	rs_375440055	2 SubmittersRCV000937943 RCV001154212
NM_058172.6(ANTXR2):c.1360G>A (p.Ala454Thr)	SNV Germline	Chr4:79977689	Conflicting classifications of pathogenicity	Hyaline fibromatosis syndrome	Criteria Provided Conflicting Classifications	CA2981621	rs_185151361	2 SubmittersRCV001154934
NM_058172.6(ANTXR2):c.945+7A>G	SNV Germline	Chr4:80018891	Conflicting classifications of pathogenicity	Hyaline fibromatosis syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2981800	rs_144618912	2 SubmittersRCV001156616 RCV006465497
NM_058172.6(ANTXR2):c.652T>C (p.Cys218Arg)	SNV Germline	Chr4:80036017	Pathogenic/Likely pathogenic	Hyaline fibromatosis syndrome Juvenile hyaline fibromatosis	Criteria Provided Multiple Submitters No Conflicts	CA2981883	rs_781637328	3 SubmittersRCV001251177 RCV005408784
NM_058172.6(ANTXR2):c.487-2A>G	SNV Germline	Chr4:80055220	Likely pathogenic	Hyaline fibromatosis syndrome	Criteria Provided Single Submitter	CA357472906	rs_2476136571	1 SubmittersRCV003140617
NM_058172.6(ANTXR2):c.297-1G>A	SNV Germline	Chr4:80056014	Likely pathogenic	Hyaline fibromatosis syndrome	Criteria Provided Single Submitter	CA357473342	rs_2476139225	1 SubmittersRCV003132937
NM_058172.6(ANTXR2):c.1087-1G>A	SNV Germline	Chr4:79983971	Likely pathogenic	Hyaline fibromatosis syndrome	Criteria Provided Multiple Submitters No Conflicts	CA357471593	rs_1312776461	2 SubmittersRCV003155783
NM_058172.6(ANTXR2):c.1294C>T (p.Arg432Ter)	SNV Germline	Chr4:79978060	Pathogenic	Hyaline fibromatosis syndrome	Criteria Provided Single Submitter	CA357472083	rs_750324212	1 SubmittersRCV003331835
NM_058172.6(ANTXR2):c.698-2A>G	SNV Germline	Chr4:80033572	Likely pathogenic	Hyaline fibromatosis syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004821080
NM_058172.6(ANTXR2):c.1179+1G>C	SNV Germline	Chr4:79983877	Likely pathogenic	Hyaline fibromatosis syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005043008
NM_058172.6(ANTXR2):c.1347+1G>T	SNV Germline	Chr4:79978006	Pathogenic	Hyaline fibromatosis syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005859582