Total 14 pathogenic variants reported for Bartsocas-Papas syndrome 1

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_020639.3(RIPK4):c.1127C>A (p.Ser376Ter)	SNV Germline	Chr21:41743950	Pathogenic	Bartsocas-Papas syndrome 1	No Assertion Criteria Provided	CA129295	rs_387906921	1 SubmittersRCV000023468
NM_020639.3(RIPK4):c.242T>A (p.Ile81Asn)	SNV Germline	Chr21:41756757	Pathogenic	Bartsocas-Papas syndrome 1	No Assertion Criteria Provided	CA129297	rs_387906922	1 SubmittersRCV000023469
NM_020639.3(RIPK4):c.362T>A (p.Ile121Asn)	SNV Germline	Chr21:41756637	Pathogenic	Bartsocas-Papas syndrome 1	No Assertion Criteria Provided	CA129299	rs_387906923	1 SubmittersRCV000023470
NM_020639.3(RIPK4):c.1243G>A (p.Val415Met)	SNV Germline	Chr21:41741950	Conflicting classifications of pathogenicity	Bartsocas-Papas syndrome 1 Condition: not provided RIPK4-related disorder	Criteria Provided Conflicting Classifications	CA10035344	rs_55645753	3 SubmittersRCV000338076 RCV000906527 RCV003922484
NM_020639.3(RIPK4):c.2145C>T (p.His715=)	SNV Germline	Chr21:41741048	Conflicting classifications of pathogenicity	Bartsocas-Papas syndrome 1 Condition: not provided RIPK4-related disorder	Criteria Provided Conflicting Classifications	CA10035118	rs_61739694	3 SubmittersRCV000358629 RCV000907434 RCV003950178
NM_020639.3(RIPK4):c.267C>T (p.Arg89=)	SNV Germline	Chr21:41756732	Conflicting classifications of pathogenicity	Bartsocas-Papas syndrome 1 Condition: not provided RIPK4-related disorder	Criteria Provided Conflicting Classifications	CA10035812	rs_55798804	4 SubmittersRCV000386881 RCV000890150 RCV003932360
NM_020639.3(RIPK4):c.2277C>T (p.Ala759=)	SNV Germline	Chr21:41740916	Conflicting classifications of pathogenicity	Condition: not provided Bartsocas-Papas syndrome 1 not specified	Criteria Provided Conflicting Classifications	CA10035081	rs_201802815	3 SubmittersRCV000962762 RCV001139522 RCV001819043
NM_020639.3(RIPK4):c.832+2T>C	SNV Germline	Chr21:41746611	Conflicting classifications of pathogenicity	Condition: not provided Bartsocas-Papas syndrome 1 Gastric cancer Malignant tumor of urinary bladder Hepatocellular carcinoma Cervical cancer	Criteria Provided Conflicting Classifications	CA10035601	rs_146341788	5 SubmittersRCV000889410 RCV001142245 RCV005905858 RCV005905855 RCV005905856 RCV005905857
NM_020639.3(RIPK4):c.252G>A (p.Val84=)	SNV Germline	Chr21:41756747	Conflicting classifications of pathogenicity	Condition: not provided Bartsocas-Papas syndrome 1	Criteria Provided Conflicting Classifications	CA10035815	rs_138268998	2 SubmittersRCV000910012 RCV001139717
NM_020639.3(RIPK4):c.1344C>T (p.Ala448=)	SNV Germline	Chr21:41741849	Conflicting classifications of pathogenicity	Condition: not provided Bartsocas-Papas syndrome 1	Criteria Provided Conflicting Classifications	CA10035329	rs_577583084	2 SubmittersRCV000925098 RCV001137392
NM_020639.3(RIPK4):c.1137C>T (p.Ser379=)	SNV Germline	Chr21:41743940	Conflicting classifications of pathogenicity	Condition: not provided Bartsocas-Papas syndrome 1 RIPK4-related disorder	Criteria Provided Conflicting Classifications	CA10035394	rs_200420912	3 SubmittersRCV000922961 RCV001139626 RCV003970503
NM_020639.3(RIPK4):c.722G>A (p.Arg241His)	SNV Germline	Chr21:41746723	Likely pathogenic	Bartsocas-Papas syndrome 1	Criteria Provided Single Submitter	CA321459776	rs_891831110	1 SubmittersRCV001706914