ClinVar for MedGen (Select 337894) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 12855571.	NM_020639.3(RIPK4):c.722G>A (p.Arg241His) GRCh37: Chr21:43166883 GRCh38: Chr21:41746723	RIPK4	R241H	Bartsocas-Papas syndrome	Likely pathogenic (Mar 26, 2021)	criteria provided, single submitter
Select item 12708772.	NM_020639.3(RIPK4):c.937-45T>G GRCh37: Chr21:43164345 GRCh38: Chr21:41744185	RIPK4		Bartsocas-Papas syndrome, not provided	Benign (Nov 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12616283.	NM_020639.3(RIPK4):c.1196-43A>G GRCh37: Chr21:43162200 GRCh38: Chr21:41742040	RIPK4		Bartsocas-Papas syndrome, not provided	Benign (Nov 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 10335414.	NM_020639.3(RIPK4):c.1511A>G (p.Gln504Arg) GRCh37: Chr21:43161842 GRCh38: Chr21:41741682	RIPK4	Q504R	Bartsocas-Papas syndrome	Uncertain significance (May 22, 2018)	criteria provided, single submitter
Select item 8993615.	NM_020639.3(RIPK4):c.*173C>T GRCh37: Chr21:43160825 GRCh38: Chr21:41740665	RIPK4		Bartsocas-Papas syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8993606.	NM_020639.3(RIPK4):c.*204G>A GRCh37: Chr21:43160794 GRCh38: Chr21:41740634	RIPK4		Bartsocas-Papas syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8993597.	NM_020639.3(RIPK4):c.*215G>C GRCh37: Chr21:43160783 GRCh38: Chr21:41740623	RIPK4		Bartsocas-Papas syndrome	Benign (Apr 27, 2017)	criteria provided, single submitter
Select item 8993588.	NM_020639.3(RIPK4):c.*273A>C GRCh37: Chr21:43160725 GRCh38: Chr21:41740565	RIPK4		Bartsocas-Papas syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8992989.	NM_020639.3(RIPK4):c.*1192A>G GRCh37: Chr21:43159806 GRCh38: Chr21:41739646	RIPK4		Bartsocas-Papas syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89929710.	NM_020639.3(RIPK4):c.*1203A>T GRCh37: Chr21:43159795 GRCh38: Chr21:41739635	RIPK4		Bartsocas-Papas syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89929611.	NM_020639.3(RIPK4):c.*1206A>G GRCh37: Chr21:43159792 GRCh38: Chr21:41739632	RIPK4		Bartsocas-Papas syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89929512.	NM_020639.3(RIPK4):c.*1376C>T GRCh37: Chr21:43159622 GRCh38: Chr21:41739462	RIPK4		Bartsocas-Papas syndrome	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 89929413.	NM_020639.3(RIPK4):c.*1420T>G GRCh37: Chr21:43159578 GRCh38: Chr21:41739418	RIPK4		Bartsocas-Papas syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89840314.	NM_020639.3(RIPK4):c.504C>T (p.Asn168=) GRCh37: Chr21:43171376 GRCh38: Chr21:41751216	RIPK4		Bartsocas-Papas syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89840215.	NM_020639.3(RIPK4):c.755C>T (p.Pro252Leu) GRCh37: Chr21:43166850 GRCh38: Chr21:41746690	RIPK4	P252L	Bartsocas-Papas syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89840116.	NM_020639.3(RIPK4):c.812G>A (p.Arg271Gln) GRCh37: Chr21:43166793 GRCh38: Chr21:41746633	RIPK4	R271Q	Bartsocas-Papas syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89831817.	NM_020639.3(RIPK4):c.1561C>T (p.Arg521Trp) GRCh37: Chr21:43161792 GRCh38: Chr21:41741632	RIPK4	R521W	Bartsocas-Papas syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89831718.	NM_020639.3(RIPK4):c.1694T>G (p.Leu565Arg) GRCh37: Chr21:43161659 GRCh38: Chr21:41741499	RIPK4	L565R	Bartsocas-Papas syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89831619.	NM_020639.3(RIPK4):c.1779G>A (p.Pro593=) GRCh37: Chr21:43161574 GRCh38: Chr21:41741414	RIPK4		Bartsocas-Papas syndrome	Uncertain significance (Mar 23, 2018)	criteria provided, single submitter
Select item 89831520.	NM_020639.3(RIPK4):c.1862G>A (p.Arg621His) GRCh37: Chr21:43161491 GRCh38: Chr21:41741331	RIPK4	R621H	Bartsocas-Papas syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89825521.	NM_020639.3(RIPK4):c.*298A>G GRCh37: Chr21:43160700 GRCh38: Chr21:41740540	RIPK4		Bartsocas-Papas syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89825422.	NM_020639.3(RIPK4):c.*416C>T GRCh37: Chr21:43160582 GRCh38: Chr21:41740422	RIPK4		Bartsocas-Papas syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89825323.	NM_020639.3(RIPK4):c.*550C>G GRCh37: Chr21:43160448 GRCh38: Chr21:41740288	RIPK4		Bartsocas-Papas syndrome	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 89825224.	NM_020639.3(RIPK4):c.*637G>A GRCh37: Chr21:43160361 GRCh38: Chr21:41740201	RIPK4		Bartsocas-Papas syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89825125.	NM_020639.3(RIPK4):c.*701A>G GRCh37: Chr21:43160297 GRCh38: Chr21:41740137	RIPK4		Bartsocas-Papas syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89819126.	NM_020639.3(RIPK4):c.*1447A>C GRCh37: Chr21:43159551 GRCh38: Chr21:41739391	RIPK4		Bartsocas-Papas syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89722827.	NM_020639.3(RIPK4):c.899A>T (p.Asp300Val) GRCh37: Chr21:43165956 GRCh38: Chr21:41745796	RIPK4	D300V	Bartsocas-Papas syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89722728.	NM_020639.3(RIPK4):c.1039G>A (p.Val347Ile) GRCh37: Chr21:43164198 GRCh38: Chr21:41744038	RIPK4	V347I	Bartsocas-Papas syndrome, Inborn genetic diseases	Uncertain significance (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 89722629.	NM_020639.3(RIPK4):c.1079C>T (p.Ser360Phe) GRCh37: Chr21:43164158 GRCh38: Chr21:41743998	RIPK4	S360F	Bartsocas-Papas syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89722530.	NM_020639.3(RIPK4):c.1106A>G (p.Lys369Arg) GRCh37: Chr21:43164131 GRCh38: Chr21:41743971	RIPK4	K369R	Bartsocas-Papas syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89715031.	NM_020639.3(RIPK4):c.1995C>T (p.Ala665=) GRCh37: Chr21:43161358 GRCh38: Chr21:41741198	RIPK4		Bartsocas-Papas syndrome	Uncertain significance (Mar 16, 2018)	criteria provided, single submitter
Select item 89714932.	NM_020639.3(RIPK4):c.2001C>G (p.Thr667=) GRCh37: Chr21:43161352 GRCh38: Chr21:41741192	RIPK4		Bartsocas-Papas syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89714833.	NM_020639.3(RIPK4):c.2041G>A (p.Gly681Arg) GRCh37: Chr21:43161312 GRCh38: Chr21:41741152	RIPK4	G681R	Bartsocas-Papas syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89681034.	NM_020639.3(RIPK4):c.59G>A (p.Gly20Asp) GRCh37: Chr21:43187143 GRCh38: Chr21:41766983	RIPK4	G20D	Bartsocas-Papas syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89680935.	NM_020639.3(RIPK4):c.117G>A (p.Val39=) GRCh37: Chr21:43187085 GRCh38: Chr21:41766925	RIPK4		Bartsocas-Papas syndrome, not provided	Benign/Likely benign (Mar 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 89675236.	NM_020639.3(RIPK4):c.1195+8G>C GRCh37: Chr21:43164034 GRCh38: Chr21:41743874	RIPK4		Bartsocas-Papas syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89662237.	NM_020639.3(RIPK4):c.*747T>A GRCh37: Chr21:43160251 GRCh38: Chr21:41740091	RIPK4		Bartsocas-Papas syndrome	Benign (Apr 27, 2017)	criteria provided, single submitter
Select item 89662138.	NM_020639.3(RIPK4):c.*823A>G GRCh37: Chr21:43160175 GRCh38: Chr21:41740015	RIPK4		Bartsocas-Papas syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89662039.	NM_020639.3(RIPK4):c.*824C>T GRCh37: Chr21:43160174 GRCh38: Chr21:41740014	RIPK4		Bartsocas-Papas syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89541440.	NM_020639.3(RIPK4):c.277G>A (p.Gly93Ser) GRCh37: Chr21:43176882 GRCh38: Chr21:41756722	RIPK4	G93S	Inborn genetic diseases, Bartsocas-Papas syndrome	Uncertain significance (Jan 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89541341.	NM_020639.3(RIPK4):c.377C>T (p.Ala126Val) GRCh37: Chr21:43176782 GRCh38: Chr21:41756622	RIPK4	A126V	Inborn genetic diseases, Bartsocas-Papas syndrome	Uncertain significance (Aug 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 89541242.	NM_020639.3(RIPK4):c.474+14C>T GRCh37: Chr21:43176671 GRCh38: Chr21:41756511	RIPK4		Bartsocas-Papas syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89533943.	NM_020639.3(RIPK4):c.1453G>A (p.Gly485Ser) GRCh37: Chr21:43161900 GRCh38: Chr21:41741740	RIPK4	G485S	Bartsocas-Papas syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89533844.	NM_020639.3(RIPK4):c.1477C>T (p.Arg493Trp) GRCh37: Chr21:43161876 GRCh38: Chr21:41741716	RIPK4	R493W	Bartsocas-Papas syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89526045.	NM_020639.3(RIPK4):c.*72C>T GRCh37: Chr21:43160926 GRCh38: Chr21:41740766	RIPK4		Bartsocas-Papas syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89525946.	NM_020639.3(RIPK4):c.*161G>A GRCh37: Chr21:43160837 GRCh38: Chr21:41740677	RIPK4		Bartsocas-Papas syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89520947.	NM_020639.3(RIPK4):c.*961G>A GRCh37: Chr21:43160037 GRCh38: Chr21:41739877	RIPK4		Bartsocas-Papas syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89520848.	NM_020639.3(RIPK4):c.*1025G>T GRCh37: Chr21:43159973 GRCh38: Chr21:41739813	RIPK4		Bartsocas-Papas syndrome	Benign (Apr 27, 2017)	criteria provided, single submitter
Select item 89520749.	NM_020639.3(RIPK4):c.*1117T>C GRCh37: Chr21:43159881 GRCh38: Chr21:41739721	RIPK4		Bartsocas-Papas syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89520650.	NM_020639.3(RIPK4):c.*1151G>A GRCh37: Chr21:43159847 GRCh38: Chr21:41739687	RIPK4		Bartsocas-Papas syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89520551.	NM_020639.3(RIPK4):c.*1172T>C GRCh37: Chr21:43159826 GRCh38: Chr21:41739666	RIPK4		Bartsocas-Papas syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 81678952.	NM_020639.3(RIPK4):c.1681G>A (p.Val561Met) GRCh37: Chr21:43161672 GRCh38: Chr21:41741512	RIPK4	V561M	Bartsocas-Papas syndrome	Uncertain significance	no assertion criteria provided
Select item 78152153.	NM_020639.3(RIPK4):c.2277C>T (p.Ala759=) GRCh37: Chr21:43161076 GRCh38: Chr21:41740916	RIPK4		not specified, Bartsocas-Papas syndrome, not provided	Conflicting interpretations of pathogenicity (Dec 31, 2019)	criteria provided, conflicting interpretations
Select item 75541854.	NM_020639.3(RIPK4):c.2296C>G (p.Leu766Val) GRCh37: Chr21:43161057 GRCh38: Chr21:41740897	RIPK4	L766V	not provided, Bartsocas-Papas syndrome	Likely benign (Aug 22, 2018)	criteria provided, multiple submitters, no conflicts
Select item 74831655.	NM_020639.3(RIPK4):c.1344C>T (p.Ala448=) GRCh37: Chr21:43162009 GRCh38: Chr21:41741849	RIPK4		not provided, Bartsocas-Papas syndrome	Conflicting interpretations of pathogenicity (Jun 9, 2018)	criteria provided, conflicting interpretations
Select item 74669256.	NM_020639.3(RIPK4):c.1100G>T (p.Ser367Ile) GRCh37: Chr21:43164137 GRCh38: Chr21:41743977	RIPK4	S367I	not provided, Bartsocas-Papas syndrome	Likely benign (Apr 2, 2018)	criteria provided, multiple submitters, no conflicts
Select item 74635557.	NM_020639.3(RIPK4):c.1137C>T (p.Ser379=) GRCh37: Chr21:43164100 GRCh38: Chr21:41743940	RIPK4		not provided, Bartsocas-Papas syndrome	Conflicting interpretations of pathogenicity (Oct 3, 2018)	criteria provided, conflicting interpretations
Select item 73633658.	NM_020639.3(RIPK4):c.2323G>A (p.Ala775Thr) GRCh37: Chr21:43161030 GRCh38: Chr21:41740870	RIPK4	A775T	Bartsocas-Papas syndrome, not provided	Benign/Likely benign (Dec 31, 2019)	criteria provided, multiple submitters, no conflicts
Select item 73457459.	NM_020639.3(RIPK4):c.252G>A (p.Val84=) GRCh37: Chr21:43176907 GRCh38: Chr21:41756747	RIPK4		Bartsocas-Papas syndrome, not provided	Conflicting interpretations of pathogenicity (Jun 6, 2018)	criteria provided, conflicting interpretations
Select item 73126360.	NM_020639.3(RIPK4):c.303G>A (p.Thr101=) GRCh37: Chr21:43176856 GRCh38: Chr21:41756696	RIPK4		Bartsocas-Papas syndrome, Bartsocas-Papas syndrome, Curly hair, ankyloblepharon, nail dysplasia syndrome, not provided	Benign/Likely benign (Apr 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 71832761.	NM_020639.3(RIPK4):c.1119G>T (p.Gly373=) GRCh37: Chr21:43164118 GRCh38: Chr21:41743958	RIPK4		not provided, Bartsocas-Papas syndrome	Benign/Likely benign (Oct 4, 2020)	criteria provided, multiple submitters, no conflicts
Select item 71672162.	NM_020639.3(RIPK4):c.832+2T>C GRCh37: Chr21:43166771 GRCh38: Chr21:41746611	RIPK4		Bartsocas-Papas syndrome, not provided	Conflicting interpretations of pathogenicity (Feb 10, 2020)	criteria provided, conflicting interpretations
Select item 58526563.	NM_020639.3(RIPK4):c.1074dup (p.Glu359Ter) GRCh37: Chr21:43164162-43164163 GRCh38: Chr21:41744002-41744003	RIPK4	E359*	Bartsocas-Papas syndrome	Pathogenic (May 26, 2021)	no assertion criteria provided
Select item 56109864.	NM_020639.3(RIPK4):c.488G>A (p.Gly163Asp) GRCh37: Chr21:43171392 GRCh38: Chr21:41751232	RIPK4	G163D	Bartsocas-Papas syndrome	Uncertain significance (Sep 1, 2017)	criteria provided, single submitter
Select item 34003865.	NM_020639.3(RIPK4):c.7G>A (p.Gly3Ser) GRCh37: Chr21:43187195 GRCh38: Chr21:41767035	RIPK4	G3S	not provided, Bartsocas-Papas syndrome	Benign/Likely benign (Sep 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34003766.	NM_020639.3(RIPK4):c.35C>G (p.Ala12Gly) GRCh37: Chr21:43187167 GRCh38: Chr21:41767007	RIPK4	A12G	not provided, Bartsocas-Papas syndrome	Benign (Oct 30, 2019)	criteria provided, multiple submitters, no conflicts
Select item 34003667.	NM_020639.3(RIPK4):c.159G>A (p.Ser53=) GRCh37: Chr21:43187043 GRCh38: Chr21:41766883	RIPK4		not provided, Bartsocas-Papas syndrome	Benign (Nov 2, 2019)	criteria provided, multiple submitters, no conflicts
Select item 34003568.	NM_020639.3(RIPK4):c.267C>T (p.Arg89=) GRCh37: Chr21:43176892 GRCh38: Chr21:41756732	RIPK4		not provided, Bartsocas-Papas syndrome	Conflicting interpretations of pathogenicity (Dec 31, 2019)	criteria provided, conflicting interpretations
Select item 34003469.	NM_020639.3(RIPK4):c.271C>A (p.Pro91Thr) GRCh37: Chr21:43176888 GRCh38: Chr21:41756728	RIPK4	P91T	Bartsocas-Papas syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34003370.	NM_020639.3(RIPK4):c.302C>T (p.Thr101Met) GRCh37: Chr21:43176857 GRCh38: Chr21:41756697	RIPK4	T101M	Bartsocas-Papas syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34003271.	NM_020639.3(RIPK4):c.327T>C (p.Ala109=) GRCh37: Chr21:43176832 GRCh38: Chr21:41756672	RIPK4		Bartsocas-Papas syndrome, not provided	Benign (Nov 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 34003172.	NM_020639.3(RIPK4):c.360A>C (p.Arg120=) GRCh37: Chr21:43176799 GRCh38: Chr21:41756639	RIPK4		not provided, Bartsocas-Papas syndrome	Benign (Nov 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 34003073.	NM_020639.3(RIPK4):c.630G>A (p.Ala210=) GRCh37: Chr21:43169357 GRCh38: Chr21:41749197	RIPK4		not provided, Bartsocas-Papas syndrome	Benign/Likely benign (Nov 2, 2019)	criteria provided, multiple submitters, no conflicts
Select item 34002974.	NM_020639.3(RIPK4):c.630G>C (p.Ala210=) GRCh37: Chr21:43169357 GRCh38: Chr21:41749197	RIPK4		not provided, Bartsocas-Papas syndrome	Benign (Nov 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 34002875.	NM_020639.3(RIPK4):c.779G>A (p.Arg260His) GRCh37: Chr21:43166826 GRCh38: Chr21:41746666	RIPK4	R260H	Bartsocas-Papas syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34002776.	NM_020639.3(RIPK4):c.819G>A (p.Arg273=) GRCh37: Chr21:43166786 GRCh38: Chr21:41746626	RIPK4		not provided, Bartsocas-Papas syndrome	Benign/Likely benign (Dec 31, 2019)	criteria provided, multiple submitters, no conflicts
Select item 34002677.	NM_020639.3(RIPK4):c.936+6G>A GRCh37: Chr21:43165913 GRCh38: Chr21:41745753	RIPK4		Bartsocas-Papas syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34002578.	NM_020639.3(RIPK4):c.959G>A (p.Arg320Gln) GRCh37: Chr21:43164278 GRCh38: Chr21:41744118	RIPK4	R320Q	Bartsocas-Papas syndrome, Inborn genetic diseases	Uncertain significance (Dec 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34002479.	NM_020639.3(RIPK4):c.1164G>A (p.Ser388=) GRCh37: Chr21:43164073 GRCh38: Chr21:41743913	RIPK4		Bartsocas-Papas syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34002380.	NM_020639.3(RIPK4):c.1193G>T (p.Ser398Ile) GRCh37: Chr21:43164044 GRCh38: Chr21:41743884	RIPK4	S398I	Bartsocas-Papas syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34002281.	NM_020639.3(RIPK4):c.1243G>A (p.Val415Met) GRCh37: Chr21:43162110 GRCh38: Chr21:41741950	RIPK4	V415M	Bartsocas-Papas syndrome, not provided	Conflicting interpretations of pathogenicity (Dec 31, 2019)	criteria provided, conflicting interpretations
Select item 34002182.	NM_020639.3(RIPK4):c.1311C>T (p.Ser437=) GRCh37: Chr21:43162042 GRCh38: Chr21:41741882	RIPK4		Bartsocas-Papas syndrome, not provided	Benign/Likely benign (Mar 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 34002083.	NM_020639.3(RIPK4):c.1425G>A (p.Leu475=) GRCh37: Chr21:43161928 GRCh38: Chr21:41741768	RIPK4		not provided, Bartsocas-Papas syndrome	Benign/Likely benign (Dec 17, 2020)	criteria provided, multiple submitters, no conflicts
Select item 34001984.	NM_020639.3(RIPK4):c.1530T>C (p.Phe510=) GRCh37: Chr21:43161823 GRCh38: Chr21:41741663	RIPK4		Bartsocas-Papas syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34001885.	NM_020639.3(RIPK4):c.1587G>A (p.Ser529=) GRCh37: Chr21:43161766 GRCh38: Chr21:41741606	RIPK4		not provided, Bartsocas-Papas syndrome	Benign (Dec 31, 2019)	criteria provided, multiple submitters, no conflicts
Select item 34001786.	NM_020639.3(RIPK4):c.1617G>A (p.Thr539=) GRCh37: Chr21:43161736 GRCh38: Chr21:41741576	RIPK4		not provided, Bartsocas-Papas syndrome	Benign/Likely benign (Oct 23, 2020)	criteria provided, multiple submitters, no conflicts
Select item 34001687.	NM_020639.3(RIPK4):c.1941G>A (p.Thr647=) GRCh37: Chr21:43161412 GRCh38: Chr21:41741252	RIPK4		not provided, Bartsocas-Papas syndrome	Benign/Likely benign (Dec 31, 2019)	criteria provided, multiple submitters, no conflicts
Select item 34001588.	NM_020639.3(RIPK4):c.1980C>T (p.Gly660=) GRCh37: Chr21:43161373 GRCh38: Chr21:41741213	RIPK4		not provided, Bartsocas-Papas syndrome	Benign (Dec 31, 2019)	criteria provided, multiple submitters, no conflicts
Select item 34001489.	NM_020639.3(RIPK4):c.2008G>A (p.Gly670Ser) GRCh37: Chr21:43161345 GRCh38: Chr21:41741185	RIPK4	G670S	Bartsocas-Papas syndrome, not provided, not specified	Uncertain significance (Jul 9, 2020)	criteria provided, multiple submitters, no conflicts
Select item 34001390.	NM_020639.3(RIPK4):c.2139C>T (p.His713=) GRCh37: Chr21:43161214 GRCh38: Chr21:41741054	RIPK4		Bartsocas-Papas syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34001291.	NM_020639.3(RIPK4):c.2145C>T (p.His715=) GRCh37: Chr21:43161208 GRCh38: Chr21:41741048	RIPK4		not provided, Bartsocas-Papas syndrome	Conflicting interpretations of pathogenicity (Dec 31, 2019)	criteria provided, conflicting interpretations
Select item 34001192.	NM_020639.3(RIPK4):c.2250G>A (p.Thr750=) GRCh37: Chr21:43161103 GRCh38: Chr21:41740943	RIPK4		Bartsocas-Papas syndrome	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 34001093.	NM_020639.3(RIPK4):c.2325C>T (p.Ala775=) GRCh37: Chr21:43161028 GRCh38: Chr21:41740868	RIPK4		not provided, Bartsocas-Papas syndrome	Benign/Likely benign (Jul 29, 2018)	criteria provided, multiple submitters, no conflicts
Select item 34000994.	NM_020639.3(RIPK4):c.*59C>T GRCh37: Chr21:43160939 GRCh38: Chr21:41740779	RIPK4		Bartsocas-Papas syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34000895.	NM_020639.3(RIPK4):c.*60G>A GRCh37: Chr21:43160938 GRCh38: Chr21:41740778	RIPK4		Bartsocas-Papas syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34000796.	NM_020639.3(RIPK4):c.*73G>A GRCh37: Chr21:43160925 GRCh38: Chr21:41740765	RIPK4		Bartsocas-Papas syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34000697.	NM_020639.3(RIPK4):c.*90T>C GRCh37: Chr21:43160908 GRCh38: Chr21:41740748	RIPK4		not provided, Bartsocas-Papas syndrome	Benign (Jul 31, 2019)	criteria provided, multiple submitters, no conflicts
Select item 34000598.	NM_020639.3(RIPK4):c.*142G>A GRCh37: Chr21:43160856 GRCh38: Chr21:41740696	RIPK4		Bartsocas-Papas syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34000499.	NM_020639.3(RIPK4):c.*201C>T GRCh37: Chr21:43160797 GRCh38: Chr21:41740637	RIPK4		Bartsocas-Papas syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 340003100.	NM_020639.3(RIPK4):c.*215G>T GRCh37: Chr21:43160783 GRCh38: Chr21:41740623	RIPK4		Bartsocas-Papas syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter

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