ClinVar for MedGen (Select 95931) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25023091.	NM_001017420.3(ESCO2):c.416_430dup (p.Leu144Ter) GRCh37: Chr8:27634240-27634241 GRCh38: Chr8:27776723-27776724	ESCO2	L144*	Roberts-SC phocomelia syndrome	Pathogenic	criteria provided, single submitter
Select item 20627252.	NM_001017420.3(ESCO2):c.845_848del (p.Lys282fs) GRCh37: Chr8:27634669-27634672 GRCh38: Chr8:27777152-27777155	ESCO2	K282fs	Roberts-SC phocomelia syndrome, not provided	Pathogenic/Likely pathogenic (Apr 6, 2023)	criteria provided, multiple submitters, no conflicts
Select item 16968273.	NM_001017420.3(ESCO2):c.1166G>A (p.Cys389Tyr) GRCh37: Chr8:27646398 GRCh38: Chr8:27788881	ESCO2	C389Y	Roberts-SC phocomelia syndrome	Likely pathogenic	criteria provided, single submitter
Select item 13328534.	NM_001017420.3(ESCO2):c.1673+1G>A GRCh37: Chr8:27657234 GRCh38: Chr8:27799717	ESCO2		Roberts-SC phocomelia syndrome	Pathogenic	criteria provided, single submitter
Select item 10325415.	NM_001017420.3(ESCO2):c.861+1G>A GRCh37: Chr8:27634687 GRCh38: Chr8:27777170	ESCO2		not provided, Roberts-SC phocomelia syndrome	Conflicting interpretations of pathogenicity (Nov 7, 2021)	criteria provided, conflicting interpretations
Select item 10289446.	NM_001017420.3(ESCO2):c.862-2A>G GRCh37: Chr8:27637689 GRCh38: Chr8:27780172	ESCO2		Roberts-SC phocomelia syndrome	Likely pathogenic (Jun 8, 2020)	criteria provided, single submitter
Select item 9912717.	NM_001017420.3(ESCO2):c.1128C>A (p.Ile376=) GRCh37: Chr8:27645516 GRCh38: Chr8:27787999	ESCO2		not provided	Likely benign (Sep 29, 2021)	criteria provided, single submitter
Select item 9912708.	NM_001017420.3(ESCO2):c.907A>C (p.Lys303Gln) GRCh37: Chr8:27637736 GRCh38: Chr8:27780219	ESCO2	K303Q	Inborn genetic diseases, not provided	Uncertain significance (Mar 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9912699.	NM_001017420.3(ESCO2):c.761C>T (p.Thr254Ile) GRCh37: Chr8:27634586 GRCh38: Chr8:27777069	ESCO2	T254I	Roberts-SC phocomelia syndrome	Likely benign (Sep 4, 2020)	no assertion criteria provided
Select item 99126810.	NM_001017420.3(ESCO2):c.423G>C (p.Gln141His) GRCh37: Chr8:27634248 GRCh38: Chr8:27776731	ESCO2	Q141H	not provided	Uncertain significance (Aug 12, 2020)	criteria provided, single submitter
Select item 99126711.	NM_001017420.3(ESCO2):c.402G>A (p.Lys134=) GRCh37: Chr8:27634227 GRCh38: Chr8:27776710	ESCO2		Roberts-SC phocomelia syndrome	Uncertain significance (Aug 14, 2020)	no assertion criteria provided
Select item 91210012.	NM_001017420.3(ESCO2):c.*299T>C GRCh37: Chr8:27661254 GRCh38: Chr8:27803737	ESCO2		Roberts-SC phocomelia syndrome	Benign (Apr 27, 2017)	criteria provided, single submitter
Select item 91209913.	NM_001017420.3(ESCO2):c.*266C>T GRCh37: Chr8:27661221 GRCh38: Chr8:27803704	ESCO2		Roberts-SC phocomelia syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91204614.	NM_001017420.3(ESCO2):c.53+8T>G GRCh37: Chr8:27633092 GRCh38: Chr8:27775575	ESCO2		Roberts-SC phocomelia syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91087615.	NM_001017420.3(ESCO2):c.*96C>T GRCh37: Chr8:27661051 GRCh38: Chr8:27803534	ESCO2		Roberts-SC phocomelia syndrome	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 91087516.	NM_001017420.3(ESCO2):c.*50T>C GRCh37: Chr8:27661005 GRCh38: Chr8:27803488	ESCO2		Roberts-SC phocomelia syndrome	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 91004717.	NM_001017420.3(ESCO2):c.*1397T>A GRCh37: Chr8:27662352 GRCh38: Chr8:27804835	ESCO2		Roberts-SC phocomelia syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91004618.	NM_001017420.3(ESCO2):c.*915A>G GRCh37: Chr8:27661870 GRCh38: Chr8:27804353	ESCO2		Roberts-SC phocomelia syndrome	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 91004519.	NM_001017420.3(ESCO2):c.*770A>C GRCh37: Chr8:27661725 GRCh38: Chr8:27804208	ESCO2		Roberts-SC phocomelia syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90998720.	NM_001017420.3(ESCO2):c.1004A>G (p.Asn335Ser) GRCh37: Chr8:27641565 GRCh38: Chr8:27784048	ESCO2	N335S	not provided, Roberts-SC phocomelia syndrome	Uncertain significance (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90914121.	NM_001017420.3(ESCO2):c.697A>G (p.Thr233Ala) GRCh37: Chr8:27634522 GRCh38: Chr8:27777005	ESCO2	T233A	Roberts-SC phocomelia syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90914022.	NM_001017420.3(ESCO2):c.662A>T (p.Lys221Ile) GRCh37: Chr8:27634487 GRCh38: Chr8:27776970	ESCO2	K221I	not provided, Roberts-SC phocomelia syndrome	Uncertain significance (Apr 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90809523.	NM_001017420.3(ESCO2):c.*697G>C GRCh37: Chr8:27661652 GRCh38: Chr8:27804135	ESCO2		Roberts-SC phocomelia syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90809424.	NM_001017420.3(ESCO2):c.*538A>G GRCh37: Chr8:27661493 GRCh38: Chr8:27803976	ESCO2		Roberts-SC phocomelia syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90809325.	NM_001017420.3(ESCO2):c.*491A>G GRCh37: Chr8:27661446 GRCh38: Chr8:27803929	ESCO2		Roberts-SC phocomelia syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90809226.	NM_001017420.3(ESCO2):c.*397A>G GRCh37: Chr8:27661352 GRCh38: Chr8:27803835	ESCO2		Roberts-SC phocomelia syndrome	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 80440927.	NM_001017420.3(ESCO2):c.956-2A>G GRCh37: Chr8:27641515 GRCh38: Chr8:27783998	ESCO2		Roberts-SC phocomelia syndrome	Likely pathogenic (Jun 20, 2019)	criteria provided, single submitter
Select item 80086928.	NM_001017420.3(ESCO2):c.116dup (p.Asn39fs) GRCh37: Chr8:27633937-27633938 GRCh38: Chr8:27776420-27776421	ESCO2	N39fs	Roberts-SC phocomelia syndrome	Likely pathogenic (Sep 15, 2019)	no assertion criteria provided
Select item 79971229.	NM_001017420.3(ESCO2):c.955+10A>G GRCh37: Chr8:27637794 GRCh38: Chr8:27780277	ESCO2		not provided, Roberts-SC phocomelia syndrome	Conflicting interpretations of pathogenicity (Aug 21, 2022)	criteria provided, conflicting interpretations
Select item 79617430.	NM_001017420.3(ESCO2):c.955+7_955+8del GRCh37: Chr8:27637788-27637789 GRCh38: Chr8:27780271-27780272	ESCO2		not provided	Likely benign (Oct 27, 2022)	criteria provided, single submitter
Select item 79005031.	NM_001017420.3(ESCO2):c.820C>G (p.Leu274Val) GRCh37: Chr8:27634645 GRCh38: Chr8:27777128	ESCO2	L274V	not provided	Benign (Nov 3, 2022)	criteria provided, single submitter
Select item 76339632.	NM_001017420.3(ESCO2):c.742A>G (p.Thr248Ala) GRCh37: Chr8:27634567 GRCh38: Chr8:27777050	ESCO2	T248A	Roberts-SC phocomelia syndrome, not provided	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 75565933.	NM_001017420.3(ESCO2):c.867A>G (p.Ser289=) GRCh37: Chr8:27637696 GRCh38: Chr8:27780179	ESCO2		not provided, Roberts-SC phocomelia syndrome	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 75165034.	NM_001017420.3(ESCO2):c.1747T>C (p.Leu583=) GRCh37: Chr8:27660896 GRCh38: Chr8:27803379	ESCO2		not provided	Likely benign (Feb 14, 2021)	criteria provided, single submitter
Select item 59353635.	NM_001017420.3(ESCO2):c.929A>T (p.Glu310Val) GRCh37: Chr8:27637758 GRCh38: Chr8:27780241	ESCO2	E310V	not specified, not provided, Roberts-SC phocomelia syndrome	Conflicting interpretations of pathogenicity (Oct 31, 2022)	criteria provided, conflicting interpretations
Select item 36277036.	NM_001017420.3(ESCO2):c.*982T>C GRCh37: Chr8:27661937 GRCh38: Chr8:27804420	ESCO2		Roberts-SC phocomelia syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36276937.	NM_001017420.3(ESCO2):c.*534C>T GRCh37: Chr8:27661489 GRCh38: Chr8:27803972	ESCO2		Roberts-SC phocomelia syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36276838.	NM_001017420.3(ESCO2):c.*503GT[1] GRCh37: Chr8:27661457-27661458 GRCh38: Chr8:27803940-27803941	ESCO2		Roberts-SC phocomelia syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36276739.	NM_001017420.3(ESCO2):c.*471T>A GRCh37: Chr8:27661426 GRCh38: Chr8:27803909	ESCO2		Roberts-SC phocomelia syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 36276640.	NM_001017420.3(ESCO2):c.*481del GRCh37: Chr8:27661422 GRCh38: Chr8:27803905	ESCO2		Roberts-SC phocomelia syndrome	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 36276541.	NM_001017420.3(ESCO2):c.*481dup GRCh37: Chr8:27661421-27661422 GRCh38: Chr8:27803904-27803905	ESCO2		Roberts-SC phocomelia syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36276442.	NM_001017420.3(ESCO2):c.*425G>A GRCh37: Chr8:27661380 GRCh38: Chr8:27803863	ESCO2		Roberts-SC phocomelia syndrome	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 36276343.	NM_001017420.3(ESCO2):c.*363C>A GRCh37: Chr8:27661318 GRCh38: Chr8:27803801	ESCO2		Roberts-SC phocomelia syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 36276244.	NM_001017420.3(ESCO2):c.*261T>A GRCh37: Chr8:27661216 GRCh38: Chr8:27803699	ESCO2		Roberts-SC phocomelia syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 36276145.	NM_001017420.3(ESCO2):c.*222T>C GRCh37: Chr8:27661177 GRCh38: Chr8:27803660	ESCO2		Roberts-SC phocomelia syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 36276046.	NM_001017420.3(ESCO2):c.*172G>C GRCh37: Chr8:27661127 GRCh38: Chr8:27803610	ESCO2		Roberts-SC phocomelia syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 36275947.	NM_001017420.3(ESCO2):c.*155T>G GRCh37: Chr8:27661110 GRCh38: Chr8:27803593	ESCO2		Roberts-SC phocomelia syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36275848.	NM_001017420.3(ESCO2):c.*141T>C GRCh37: Chr8:27661096 GRCh38: Chr8:27803579	ESCO2		not provided, Roberts-SC phocomelia syndrome	Benign (Dec 24, 2018)	criteria provided, multiple submitters, no conflicts
Select item 36275749.	NM_001017420.3(ESCO2):c.*130G>A GRCh37: Chr8:27661085 GRCh38: Chr8:27803568	ESCO2		not provided, Roberts-SC phocomelia syndrome	Benign (Aug 15, 2019)	criteria provided, multiple submitters, no conflicts
Select item 36275650.	NM_001017420.3(ESCO2):c.*130delinsACACACACACA GRCh37: Chr8:27661085 GRCh38: Chr8:27803568	ESCO2		Roberts-SC phocomelia syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36275551.	NM_001017420.3(ESCO2):c.*112AC[6] GRCh37: Chr8:27661067-27661072 GRCh38: Chr8:27803550-27803555	ESCO2		Roberts-SC phocomelia syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36275452.	NM_001017420.3(ESCO2):c.*112AC[7] GRCh37: Chr8:27661067-27661070 GRCh38: Chr8:27803550-27803553	ESCO2		Roberts-SC phocomelia syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36275353.	NM_001017420.3(ESCO2):c.*112AC[14] GRCh37: Chr8:27661066-27661067 GRCh38: Chr8:27803549-27803550	ESCO2		Roberts-SC phocomelia syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36275254.	NM_001017420.3(ESCO2):c.*112AC[12] GRCh37: Chr8:27661066-27661067 GRCh38: Chr8:27803549-27803550	ESCO2		not provided, Roberts-SC phocomelia syndrome	Conflicting interpretations of pathogenicity (Aug 24, 2019)	criteria provided, conflicting interpretations
Select item 36275155.	NM_001017420.3(ESCO2):c.*112AC[11] GRCh37: Chr8:27661066-27661067 GRCh38: Chr8:27803549-27803550	ESCO2		not provided, Roberts-SC phocomelia syndrome	Conflicting interpretations of pathogenicity (Sep 8, 2019)	criteria provided, conflicting interpretations
Select item 36275056.	NM_001017420.3(ESCO2):c.*112AC[10] GRCh37: Chr8:27661066-27661067 GRCh38: Chr8:27803549-27803550	ESCO2		not provided, Roberts-SC phocomelia syndrome	Conflicting interpretations of pathogenicity (Sep 11, 2019)	criteria provided, conflicting interpretations
Select item 36274957.	NM_001017420.3(ESCO2):c.*80del GRCh37: Chr8:27661035 GRCh38: Chr8:27803518	ESCO2		Roberts-SC phocomelia syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36274858.	NM_001017420.3(ESCO2):c.76_79dup GRCh37: Chr8:27661030-27661031 GRCh38: Chr8:27803513-27803514	ESCO2		Roberts-SC phocomelia syndrome, not provided	Conflicting interpretations of pathogenicity (Sep 8, 2019)	criteria provided, conflicting interpretations
Select item 36274759.	NM_001017420.3(ESCO2):c.73_76del GRCh37: Chr8:27661026-27661029 GRCh38: Chr8:27803509-27803512	ESCO2		Roberts-SC phocomelia syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36274660.	NM_001017420.3(ESCO2):c.*34G>A GRCh37: Chr8:27660989 GRCh38: Chr8:27803472	ESCO2		Roberts-SC phocomelia syndrome, not provided	Benign/Likely benign (Nov 29, 2019)	criteria provided, multiple submitters, no conflicts
Select item 36274561.	NM_001017420.3(ESCO2):c.1735C>A (p.Pro579Thr) GRCh37: Chr8:27660884 GRCh38: Chr8:27803367	ESCO2	P579T	Roberts-SC phocomelia syndrome, not provided, Hereditary breast ovarian cancer syndrome	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 36274462.	NM_001017420.3(ESCO2):c.1647T>C (p.Ile549=) GRCh37: Chr8:27657207 GRCh38: Chr8:27799690	ESCO2		not specified, Roberts-SC phocomelia syndrome, not provided	Benign/Likely benign (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 36274363.	NM_001017420.3(ESCO2):c.1548G>A (p.Thr516=) GRCh37: Chr8:27657108 GRCh38: Chr8:27799591	ESCO2		not specified, Roberts-SC phocomelia syndrome, not provided	Benign/Likely benign (Oct 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 36274264.	NM_001017420.3(ESCO2):c.1522A>G (p.Ile508Val) GRCh37: Chr8:27657082 GRCh38: Chr8:27799565	ESCO2	I508V	not specified, Roberts-SC phocomelia syndrome, not provided	Benign (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 36274165.	NM_001017420.3(ESCO2):c.1493A>C (p.Lys498Thr) GRCh37: Chr8:27650324 GRCh38: Chr8:27792807	ESCO2	K498T	Roberts-SC phocomelia syndrome, not provided	Uncertain significance (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 36274066.	NM_001017420.3(ESCO2):c.1105A>G (p.Lys369Glu) GRCh37: Chr8:27645493 GRCh38: Chr8:27787976	ESCO2	K369E	Inborn genetic diseases, Roberts-SC phocomelia syndrome, not provided	Uncertain significance (Aug 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 36273967.	NM_001017420.3(ESCO2):c.1109_1111del (p.Lys370del) GRCh37: Chr8:27645493-27645495 GRCh38: Chr8:27787976-27787978	ESCO2	K370del	Inborn genetic diseases, Roberts-SC phocomelia syndrome, not provided	Uncertain significance (Apr 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 36273868.	NM_001017420.3(ESCO2):c.1076A>C (p.Gln359Pro) GRCh37: Chr8:27645464 GRCh38: Chr8:27787947	ESCO2	Q359P	Roberts-SC phocomelia syndrome, Juberg-Hayward syndrome, not specified, Roberts-SC phocomelia syndrome, not provided	Benign/Likely benign (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 36273769.	NM_001017420.3(ESCO2):c.1013+7A>G GRCh37: Chr8:27641581 GRCh38: Chr8:27784064	ESCO2		Roberts-SC phocomelia syndrome, not provided	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 36273670.	NM_001017420.3(ESCO2):c.915G>A (p.Glu305=) GRCh37: Chr8:27637744 GRCh38: Chr8:27780227	ESCO2		Roberts-SC phocomelia syndrome, not provided	Conflicting interpretations of pathogenicity (Aug 23, 2022)	criteria provided, conflicting interpretations
Select item 36273571.	NM_001017420.3(ESCO2):c.835A>G (p.Ser279Gly) GRCh37: Chr8:27634660 GRCh38: Chr8:27777143	ESCO2	S279G	Roberts-SC phocomelia syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36273472.	NM_001017420.3(ESCO2):c.578G>A (p.Arg193Gln) GRCh37: Chr8:27634403 GRCh38: Chr8:27776886	ESCO2	R193Q	Roberts-SC phocomelia syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 36273373.	NM_001017420.3(ESCO2):c.447A>G (p.Gln149=) GRCh37: Chr8:27634272 GRCh38: Chr8:27776755	ESCO2		Roberts-SC phocomelia syndrome, not provided	Conflicting interpretations of pathogenicity (Jun 22, 2022)	criteria provided, conflicting interpretations
Select item 36273274.	NM_001017420.3(ESCO2):c.325T>C (p.Cys109Arg) GRCh37: Chr8:27634150 GRCh38: Chr8:27776633	ESCO2	C109R	Inborn genetic diseases, Roberts-SC phocomelia syndrome, not provided	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 36273175.	NM_001017420.3(ESCO2):c.317G>A (p.Arg106Lys) GRCh37: Chr8:27634142 GRCh38: Chr8:27776625	ESCO2	R106K	Roberts-SC phocomelia syndrome, not provided	Uncertain significance (Feb 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 36273076.	NM_001017420.3(ESCO2):c.-17+15A>T GRCh37: Chr8:27632139 GRCh38: Chr8:27774622	ESCO2		Roberts-SC phocomelia syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36272977.	NM_001017420.3(ESCO2):c.-33C>T GRCh37: Chr8:27632108 GRCh38: Chr8:27774591	ESCO2		Roberts-SC phocomelia syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36272878.	NM_001017420.3(ESCO2):c.-38C>G GRCh37: Chr8:27632103 GRCh38: Chr8:27774586	ESCO2		Roberts-SC phocomelia syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 36272779.	NM_001017420.3(ESCO2):c.-44G>A GRCh37: Chr8:27632097 GRCh38: Chr8:27774580	ESCO2		Roberts-SC phocomelia syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36272680.	NM_001017420.3(ESCO2):c.-68T>G GRCh37: Chr8:27632073 GRCh38: Chr8:27774556	ESCO2		Roberts-SC phocomelia syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 28968981.	NM_001017420.3(ESCO2):c.304A>G (p.Ile102Val) GRCh37: Chr8:27634129 GRCh38: Chr8:27776612	ESCO2	I102V	not provided, Roberts-SC phocomelia syndrome	Uncertain significance (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28753282.	NM_001017420.3(ESCO2):c.577C>T (p.Arg193Trp) GRCh37: Chr8:27634402 GRCh38: Chr8:27776885	ESCO2	R193W	Roberts-SC phocomelia syndrome, not provided, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 28140183.	NM_001017420.3(ESCO2):c.1094G>A (p.Arg365Lys) GRCh37: Chr8:27645482 GRCh38: Chr8:27787965	ESCO2	R365K	Roberts-SC phocomelia syndrome, not provided, not specified	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25705484.	NM_001017420.3(ESCO2):c.510G>A (p.Val170=) GRCh37: Chr8:27634335 GRCh38: Chr8:27776818	ESCO2		not specified, not provided, Roberts-SC phocomelia syndrome	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25705385.	NM_001017420.3(ESCO2):c.1013+35G>A GRCh37: Chr8:27641609 GRCh38: Chr8:27784092	ESCO2		Juberg-Hayward syndrome, not specified, not provided, Roberts-SC phocomelia syndrome	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 21096286.	NM_001017420.3(ESCO2):c.911dup (p.Asn304fs) GRCh37: Chr8:27637735-27637736 GRCh38: Chr8:27780218-27780219	ESCO2	N304fs	not provided, Roberts-SC phocomelia syndrome	Pathogenic (May 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 21096187.	NM_001017420.3(ESCO2):c.894delinsTTTTAT (p.Glu298fs) GRCh37: Chr8:27637723 GRCh38: Chr8:27780206	ESCO2	E298fs	Roberts-SC phocomelia syndrome	Pathogenic (Feb 21, 2013)	criteria provided, single submitter
Select item 19811288.	NM_001017420.3(ESCO2):c.1031A>C (p.Gln344Pro) GRCh37: Chr8:27645419 GRCh38: Chr8:27787902	ESCO2	Q344P	Inborn genetic diseases, not provided, Roberts-SC phocomelia syndrome	Uncertain significance (Nov 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19630089.	NM_001017420.3(ESCO2):c.764T>C (p.Phe255Ser) GRCh37: Chr8:27634589 GRCh38: Chr8:27777072	ESCO2	F255S	not specified, not provided, Roberts-SC phocomelia syndrome	Benign/Likely benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19629890.	NM_001017420.3(ESCO2):c.147C>G (p.Cys49Trp) GRCh37: Chr8:27633972 GRCh38: Chr8:27776455	ESCO2	C49W	not specified, not provided, Roberts-SC phocomelia syndrome	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 15857591.	NM_001017420.3(ESCO2):c.648A>G (p.Lys216=) GRCh37: Chr8:27634473 GRCh38: Chr8:27776956	ESCO2		not provided, Roberts-SC phocomelia syndrome	Conflicting interpretations of pathogenicity (Oct 31, 2022)	criteria provided, conflicting interpretations
Select item 15857492.	NM_001017420.3(ESCO2):c.383G>A (p.Gly128Glu) GRCh37: Chr8:27634208 GRCh38: Chr8:27776691	ESCO2	G128E	Inborn genetic diseases, not provided, Roberts-SC phocomelia syndrome	Conflicting interpretations of pathogenicity (Jun 27, 2022)	criteria provided, conflicting interpretations
Select item 15857393.	NM_001017420.3(ESCO2):c.1175G>A (p.Cys392Tyr) GRCh37: Chr8:27646407 GRCh38: Chr8:27788890	ESCO2	C392Y	not provided, Roberts-SC phocomelia syndrome	Conflicting interpretations of pathogenicity (Sep 1, 2018)	criteria provided, conflicting interpretations
Select item 15857294.	NM_001017420.3(ESCO2):c.1044A>T (p.Gly348=) GRCh37: Chr8:27645432 GRCh38: Chr8:27787915	ESCO2		not provided, Roberts-SC phocomelia syndrome	Conflicting interpretations of pathogenicity (Mar 6, 2022)	criteria provided, conflicting interpretations
Select item 2125295.	NM_001017420.3(ESCO2):c.955+2_955+5del GRCh37: Chr8:27637783-27637786 GRCh38: Chr8:27780266-27780269	ESCO2		not provided, Roberts-SC phocomelia syndrome	Pathogenic/Likely pathogenic (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 2125196.	NM_001017420.3(ESCO2):c.879_880del (p.Arg293fs) GRCh37: Chr8:27637706-27637707 GRCh38: Chr8:27780189-27780190	ESCO2	R293fs	not provided, Roberts-SC phocomelia syndrome, Juberg-Hayward syndrome	Pathogenic (Aug 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 2125097.	NM_001017420.3(ESCO2):c.876_879del (p.Asp292fs) GRCh37: Chr8:27637703-27637706 GRCh38: Chr8:27780186-27780189	ESCO2	D292fs	not provided	Pathogenic (Nov 26, 2021)	criteria provided, single submitter
Select item 2124998.	NM_001017420.3(ESCO2):c.764_765del (p.Phe255fs) GRCh37: Chr8:27634587-27634588 GRCh38: Chr8:27777070-27777071	ESCO2	F255fs	not provided	Pathogenic (Jul 6, 2022)	criteria provided, single submitter
Select item 2124799.	NM_001017420.3(ESCO2):c.760del (p.Thr254fs) GRCh37: Chr8:27634577 GRCh38: Chr8:27777060	ESCO2	T254fs	not provided, Roberts-SC phocomelia syndrome	Pathogenic (Mar 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21246100.	NM_001017420.3(ESCO2):c.745_746del (p.Val249fs) GRCh37: Chr8:27634569-27634570 GRCh38: Chr8:27777052-27777053	ESCO2	V249fs	Roberts-SC phocomelia syndrome	not provided	no assertion provided

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