ClinVar for MedGen (Select 98378) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25055571.	NM_000095.3(COMP):c.1417G>C (p.Asp473His) GRCh37: Chr19:18896847 GRCh38: Chr19:18786037	COMP	D473H	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Likely pathogenic	criteria provided, single submitter
Select item 24443682.	NM_000095.3(COMP):c.1316A>G (p.Asp439Gly) GRCh37: Chr19:18896948 GRCh38: Chr19:18786138	COMP	D439G	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 17238713.	NM_000095.3(COMP):c.1045G>C (p.Asp349His) GRCh37: Chr19:18898390 GRCh38: Chr19:18787581	COMP	D349H	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Pathogenic (Jun 1, 2022)	criteria provided, single submitter
Select item 17238674.	NM_000095.3(COMP):c.1545C>A (p.Asp515Glu) GRCh37: Chr19:18896606 GRCh38: Chr19:18785796	COMP	D515E	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Likely pathogenic (May 14, 2022)	criteria provided, single submitter
Select item 16834515.	NM_000095.3(COMP):c.1521C>G (p.Asp507Glu) GRCh37: Chr19:18896630 GRCh38: Chr19:18785820	COMP	D507E	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Likely pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 16834506.	NM_000095.3(COMP):c.1309G>C (p.Asp437His) GRCh37: Chr19:18896955 GRCh38: Chr19:18786145	COMP	D437H	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 16834487.	NM_000095.3(COMP):c.1051T>C (p.Cys351Arg) GRCh37: Chr19:18898384 GRCh38: Chr19:18787575	COMP	C351R	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Likely pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 16834478.	NM_000095.3(COMP):c.891C>A (p.Asn297Lys) GRCh37: Chr19:18899105 GRCh38: Chr19:18788296	COMP	N297K	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Likely pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 16799459.	NM_000095.3(COMP):c.868G>T (p.Asp290Tyr) GRCh37: Chr19:18899128 GRCh38: Chr19:18788319	COMP	D290Y	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Pathogenic	no assertion criteria provided
Select item 167987410.	NM_000095.3(COMP):c.1394G>T (p.Gly465Val) GRCh37: Chr19:18896870 GRCh38: Chr19:18786060	COMP	G465V	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Likely pathogenic (May 9, 2022)	criteria provided, single submitter
Select item 140468011.	NM_000095.3(COMP):c.1114GAC[2] (p.Asp374del) GRCh37: Chr19:18898313-18898315 GRCh38: Chr19:18787504-18787506	COMP	D374del	not provided, Multiple epiphyseal dysplasia type 1	Pathogenic/Likely pathogenic (Nov 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 133284612.	NM_000095.3(COMP):c.983G>T (p.Cys328Phe) GRCh37: Chr19:18898452 GRCh38: Chr19:18787643	COMP	C328F	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Likely pathogenic	criteria provided, single submitter
Select item 133283113.	NM_000095.3(COMP):c.925G>A (p.Gly309Arg) GRCh37: Chr19:18899071 GRCh38: Chr19:18788262	COMP	G309R	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Pathogenic	criteria provided, single submitter
Select item 129875214.	NM_000095.3(COMP):c.805G>A (p.Asp269Asn) GRCh37: Chr19:18899281 GRCh38: Chr19:18788472	COMP	D269N	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, not provided	Conflicting interpretations of pathogenicity (Feb 9, 2022)	criteria provided, conflicting interpretations
Select item 105581215.	NM_000095.3(COMP):c.1309G>T (p.Asp437Tyr) GRCh37: Chr19:18896955 GRCh38: Chr19:18786145	COMP	D437Y	not provided, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Conflicting interpretations of pathogenicity (Apr 1, 2022)	criteria provided, conflicting interpretations
Select item 104901016.	NM_000095.3(COMP):c.968A>G (p.Asn323Ser) GRCh37: Chr19:18899028 GRCh38: Chr19:18788219	COMP	N323S	not provided	Uncertain significance (Dec 23, 2019)	criteria provided, single submitter
Select item 103877217.	NM_000095.3(COMP):c.811G>T (p.Asp271Tyr) GRCh37: Chr19:18899275 GRCh38: Chr19:18788466	COMP	D271Y	not provided, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Conflicting interpretations of pathogenicity (Apr 1, 2022)	criteria provided, conflicting interpretations
Select item 99803718.	NM_000095.3(COMP):c.1210G>A (p.Gly404Arg) GRCh37: Chr19:18897386 GRCh38: Chr19:18786576	COMP	G404R	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Likely pathogenic (May 31, 2019)	no assertion criteria provided
Select item 98835119.	NM_000095.3(COMP):c.1153G>A (p.Asp385Asn) GRCh37: Chr19:18897443 GRCh38: Chr19:18786633	COMP	D385N	Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Carpal tunnel syndrome 2, Multiple epiphyseal dysplasia type 1, not provided	Pathogenic/Likely pathogenic (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89207220.	NM_000095.3(COMP):c.217+15G>A GRCh37: Chr19:18901356 GRCh38: Chr19:18790547	COMP		Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89202221.	NM_000095.3(COMP):c.381C>T (p.Asp127=) GRCh37: Chr19:18900760 GRCh38: Chr19:18789951	COMP		Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89198222.	NM_000095.3(COMP):c.924C>T (p.Ile308=) GRCh37: Chr19:18899072 GRCh38: Chr19:18788263	COMP		Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89193823.	NM_000095.3(COMP):c.2213G>A (p.Arg738His) GRCh37: Chr19:18893878 GRCh38: Chr19:18783068	COMP	R738H	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, not provided, Multiple epiphyseal dysplasia type 1	Conflicting interpretations of pathogenicity (Oct 4, 2022)	criteria provided, conflicting interpretations
Select item 89083224.	NM_000095.3(COMP):c.218-14C>A GRCh37: Chr19:18900937 GRCh38: Chr19:18790128	COMP		Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89083125.	NM_000095.3(COMP):c.218-13C>A GRCh37: Chr19:18900936 GRCh38: Chr19:18790127	COMP		Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89078726.	NM_000095.3(COMP):c.582C>G (p.Asn194Lys) GRCh37: Chr19:18899669 GRCh38: Chr19:18788860	COMP	N194K	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89074527.	NM_000095.3(COMP):c.1200C>T (p.Gly400=) GRCh37: Chr19:18897396 GRCh38: Chr19:18786586	COMP		Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, not provided, Multiple epiphyseal dysplasia type 1	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 89074428.	NM_000095.3(COMP):c.1406A>T (p.Asp469Val) GRCh37: Chr19:18896858 GRCh38: Chr19:18786048	COMP	D469V	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89074329.	NM_000095.3(COMP):c.1621C>G (p.Pro541Ala) GRCh37: Chr19:18896530 GRCh38: Chr19:18785720	COMP	P541A	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89031330.	NM_000095.3(COMP):c.-15C>T GRCh37: Chr19:18902093 GRCh38: Chr19:18791284	COMP		Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1	Uncertain significance (Jan 17, 2018)	criteria provided, single submitter
Select item 89026531.	NM_000095.3(COMP):c.218-6C>G GRCh37: Chr19:18900929 GRCh38: Chr19:18790120	COMP		not provided, Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Benign/Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89026432.	NM_000095.3(COMP):c.235C>A (p.Arg79Ser) GRCh37: Chr19:18900906 GRCh38: Chr19:18790097	COMP	R79S	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89021333.	NM_000095.3(COMP):c.643G>C (p.Gly215Arg) GRCh37: Chr19:18899520 GRCh38: Chr19:18788711	COMP	G215R	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, not provided, Multiple epiphyseal dysplasia type 1	Uncertain significance (Sep 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89021234.	NM_000095.3(COMP):c.700C>T (p.Pro234Ser) GRCh37: Chr19:18899463 GRCh38: Chr19:18788654	COMP	P234S	not specified, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, not provided, Multiple epiphyseal dysplasia type 1	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 89016535.	NM_000095.3(COMP):c.1803T>C (p.Phe601=) GRCh37: Chr19:18895817 GRCh38: Chr19:18785007	COMP		not provided, Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Conflicting interpretations of pathogenicity (Aug 1, 2020)	criteria provided, conflicting interpretations
Select item 88962136.	NM_000095.3(COMP):c.314C>A (p.Thr105Lys) GRCh37: Chr19:18900827 GRCh38: Chr19:18790018	COMP	T105K	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88962037.	NM_000095.3(COMP):c.327G>T (p.Ala109=) GRCh37: Chr19:18900814 GRCh38: Chr19:18790005	COMP		Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88961938.	NM_000095.3(COMP):c.345C>G (p.Pro115=) GRCh37: Chr19:18900796 GRCh38: Chr19:18789987	COMP		Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88955639.	NM_000095.3(COMP):c.850G>A (p.Glu284Lys) GRCh37: Chr19:18899236 GRCh38: Chr19:18788427	COMP	E284K	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, not provided, Multiple epiphyseal dysplasia type 1	Uncertain significance (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88955540.	NM_000095.3(COMP):c.862C>A (p.Arg288Ser) GRCh37: Chr19:18899224 GRCh38: Chr19:18788415	COMP	R288S	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88949441.	NM_000095.3(COMP):c.1894G>A (p.Glu632Lys) GRCh37: Chr19:18895726 GRCh38: Chr19:18784916	COMP	E632K	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, not provided, Multiple epiphyseal dysplasia type 1	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88860942.	NM_000095.3(COMP):c.11A>C (p.Asp4Ala) GRCh37: Chr19:18902068 GRCh38: Chr19:18791259	COMP	D4A	Inborn genetic diseases, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1, Connective tissue disorder, not provided	Conflicting interpretations of pathogenicity (Sep 7, 2022)	criteria provided, conflicting interpretations
Select item 81821943.	NM_000095.3(COMP):c.1416_1421del (p.Asn474_Asp475del) GRCh37: Chr19:18896843-18896848 GRCh38: Chr19:18786033-18786038	COMP		Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Likely pathogenic (Feb 3, 2020)	criteria provided, single submitter
Select item 81821844.	NM_000095.3(COMP):c.874T>C (p.Cys292Arg) GRCh37: Chr19:18899122 GRCh38: Chr19:18788313	COMP	C292R	not provided, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1	Pathogenic/Likely pathogenic (Aug 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 81821745.	NM_000095.3(COMP):c.1201G>C (p.Asp401His) GRCh37: Chr19:18897395 GRCh38: Chr19:18786585	COMP	D401H	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Likely pathogenic (Feb 3, 2020)	criteria provided, single submitter
Select item 81821646.	NM_000095.3(COMP):c.1309G>A (p.Asp437Asn) GRCh37: Chr19:18896955 GRCh38: Chr19:18786145	COMP	D437N	not provided, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1	Conflicting interpretations of pathogenicity (Aug 2, 2021)	criteria provided, conflicting interpretations
Select item 81821547.	NM_000095.3(COMP):c.1445A>T (p.Asp482Val) GRCh37: Chr19:18896819 GRCh38: Chr19:18786009	COMP	D482V	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Likely pathogenic (Feb 3, 2020)	criteria provided, single submitter
Select item 80739948.	NM_000095.3(COMP):c.1368GGA[1] (p.Glu457del) GRCh37: Chr19:18896891-18896893 GRCh38: Chr19:18786081-18786083	COMP	E457del	not provided, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Pathogenic/Likely pathogenic (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80355049.	NM_000095.3(COMP):c.818A>T (p.Asp273Val) GRCh37: Chr19:18899268 GRCh38: Chr19:18788459	COMP	D273V	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Likely pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 80354950.	NM_000095.3(COMP):c.950A>T (p.Asp317Val) GRCh37: Chr19:18899046 GRCh38: Chr19:18788237	COMP	D317V	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Likely pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 80354851.	NM_000095.3(COMP):c.1315G>T (p.Asp439Tyr) GRCh37: Chr19:18896949 GRCh38: Chr19:18786139	COMP	D439Y	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Pathogenic/Likely pathogenic (Apr 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80354752.	NM_000095.3(COMP):c.1552G>C (p.Asp518His) GRCh37: Chr19:18896599 GRCh38: Chr19:18785789	COMP	D518H	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 77745253.	NM_000095.3(COMP):c.1956C>T (p.Asn652=) GRCh37: Chr19:18895132 GRCh38: Chr19:18784322	COMP		not provided, Connective tissue disorder, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 76945054.	NM_000095.3(COMP):c.2152C>A (p.Arg718=) GRCh37: Chr19:18893939 GRCh38: Chr19:18783129	COMP		not provided, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1, Connective tissue disorder	Benign/Likely benign (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 72329255.	NM_000095.3(COMP):c.360C>T (p.Gly120=) GRCh37: Chr19:18900781 GRCh38: Chr19:18789972	COMP		not provided, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1	Benign/Likely benign (Jul 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 49772256.	NM_000095.3(COMP):c.218-15C>A GRCh37: Chr19:18900938 GRCh38: Chr19:18790129	COMP		Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1, not provided	Conflicting interpretations of pathogenicity (Sep 18, 2022)	criteria provided, conflicting interpretations
Select item 43883957.	NM_000095.3(COMP):c.1126G>T (p.Asp376Tyr) GRCh37: Chr19:18898309 GRCh38: Chr19:18787500	COMP	D376Y	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1	Likely pathogenic (Aug 3, 2017)	criteria provided, single submitter
Select item 43060558.	NM_000095.3(COMP):c.1489+2T>A GRCh37: Chr19:18896773 GRCh38: Chr19:18785963	COMP		Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Uncertain significance (Jun 12, 2017)	criteria provided, single submitter
Select item 36926159.	NM_000095.2(COMP):c.*155G>C GRCh37: Chr19:18893570 GRCh38: Chr19:18782760	COMP		Multiple Epiphyseal Dysplasia, Dominant, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 32863260.	NM_000095.3(COMP):c.-9G>T GRCh37: Chr19:18902087 GRCh38: Chr19:18791278	COMP		Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 32863161.	NM_000095.3(COMP):c.69G>A (p.Gln23=) GRCh37: Chr19:18902010 GRCh38: Chr19:18791201	COMP		Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32863062.	NM_000095.3(COMP):c.87C>T (p.Asp29=) GRCh37: Chr19:18901737 GRCh38: Chr19:18790928	COMP		Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, not provided	Conflicting interpretations of pathogenicity (Oct 12, 2022)	criteria provided, conflicting interpretations
Select item 32862963.	NM_000095.3(COMP):c.165+9C>A GRCh37: Chr19:18901650 GRCh38: Chr19:18790841	COMP		Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32862864.	NM_000095.3(COMP):c.195G>A (p.Thr65=) GRCh37: Chr19:18901393 GRCh38: Chr19:18790584	COMP		not provided, Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Benign (Oct 29, 2020)	criteria provided, multiple submitters, no conflicts
Select item 32862765.	NM_000095.3(COMP):c.218-14C>G GRCh37: Chr19:18900937 GRCh38: Chr19:18790128	COMP		Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32862666.	NM_000095.3(COMP):c.218-7C>G GRCh37: Chr19:18900930 GRCh38: Chr19:18790121	COMP		Multiple epiphyseal dysplasia type 1, not provided, not specified, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Conflicting interpretations of pathogenicity (Sep 23, 2022)	criteria provided, conflicting interpretations
Select item 32862567.	NM_000095.3(COMP):c.279C>A (p.Pro93=) GRCh37: Chr19:18900862 GRCh38: Chr19:18790053	COMP		not provided, Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32862468.	NM_000095.3(COMP):c.377C>T (p.Thr126Ile) GRCh37: Chr19:18900764 GRCh38: Chr19:18789955	COMP	T126I	Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32862369.	NM_000095.3(COMP):c.410T>C (p.Phe137Ser) GRCh37: Chr19:18900087 GRCh38: Chr19:18789278	COMP	F137S	not provided, Multiple epiphyseal dysplasia type 1, Connective tissue disorder, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Benign/Likely benign (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32862270.	NM_000095.3(COMP):c.468G>T (p.Pro156=) GRCh37: Chr19:18900029 GRCh38: Chr19:18789220	COMP		Multiple epiphyseal dysplasia type 1, not provided, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Benign/Likely benign (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32862171.	NM_000095.3(COMP):c.566A>G (p.His189Arg) GRCh37: Chr19:18899685 GRCh38: Chr19:18788876	COMP	H189R	Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32862072.	NM_000095.3(COMP):c.588G>A (p.Val196=) GRCh37: Chr19:18899663 GRCh38: Chr19:18788854	COMP		Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 32861973.	NM_000095.3(COMP):c.620G>A (p.Gly207Asp) GRCh37: Chr19:18899543 GRCh38: Chr19:18788734	COMP	G207D	Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32861874.	NM_000095.3(COMP):c.763-6C>G GRCh37: Chr19:18899329 GRCh38: Chr19:18788520	COMP		Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32861775.	NM_000095.3(COMP):c.867+11G>A GRCh37: Chr19:18899208 GRCh38: Chr19:18788399	COMP		Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, not provided	Conflicting interpretations of pathogenicity (Mar 23, 2022)	criteria provided, conflicting interpretations
Select item 32861676.	NM_000095.3(COMP):c.868-4C>T GRCh37: Chr19:18899132 GRCh38: Chr19:18788323	COMP		not provided, Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Conflicting interpretations of pathogenicity (Sep 23, 2022)	criteria provided, conflicting interpretations
Select item 32861577.	NM_000095.3(COMP):c.1590C>A (p.Asp530Glu) GRCh37: Chr19:18896561 GRCh38: Chr19:18785751	COMP	D530E	Multiple epiphyseal dysplasia type 1, not provided, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Conflicting interpretations of pathogenicity (Sep 1, 2022)	criteria provided, conflicting interpretations
Select item 32861478.	NM_000095.3(COMP):c.1668+13T>A GRCh37: Chr19:18896470 GRCh38: Chr19:18785660	COMP		not provided, Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32861379.	NM_000095.3(COMP):c.1668+13T>G GRCh37: Chr19:18896470 GRCh38: Chr19:18785660	COMP		not provided, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32861280.	NM_000095.3(COMP):c.1836C>G (p.Val612=) GRCh37: Chr19:18895784 GRCh38: Chr19:18784974	COMP		Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32861181.	NM_000095.3(COMP):c.1979C>G (p.Thr660Arg) GRCh37: Chr19:18895109 GRCh38: Chr19:18784299	COMP	T660R	Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Inborn genetic diseases, not provided	Conflicting interpretations of pathogenicity (Aug 22, 2022)	criteria provided, conflicting interpretations
Select item 32861082.	NM_000095.3(COMP):c.1993C>A (p.Arg665=) GRCh37: Chr19:18895095 GRCh38: Chr19:18784285	COMP		Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32860983.	NM_000095.3(COMP):c.2227+8G>A GRCh37: Chr19:18893856 GRCh38: Chr19:18783046	COMP		not provided, Connective tissue disorder, Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32860884.	NM_000095.3(COMP):c.*15A>G GRCh37: Chr19:18893710 GRCh38: Chr19:18782900	COMP		Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 32860785.	NM_000095.3(COMP):c.*92G>A GRCh37: Chr19:18893633 GRCh38: Chr19:18782823	COMP		not provided, Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Benign/Likely benign (Nov 10, 2018)	criteria provided, multiple submitters, no conflicts
Select item 32860686.	NM_000095.3(COMP):c.*111A>G GRCh37: Chr19:18893614 GRCh38: Chr19:18782804	COMP		Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 25512587.	NM_000095.3(COMP):c.762+12C>A GRCh37: Chr19:18899389 GRCh38: Chr19:18788580	COMP		not specified, Multiple epiphyseal dysplasia type 1, not provided, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Benign/Likely benign (Oct 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25512488.	NM_000095.3(COMP):c.2267A>G (p.Gln756Arg) GRCh37: Chr19:18893732 GRCh38: Chr19:18782922	COMP	Q756R	not specified, not provided, Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25512289.	NM_000095.3(COMP):c.218-14C>T GRCh37: Chr19:18900937 GRCh38: Chr19:18790128	COMP		Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1, not specified, not provided	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25511990.	NM_000095.3(COMP):c.1755G>A (p.Thr585=) GRCh37: Chr19:18895865 GRCh38: Chr19:18785055	COMP		not specified, not provided, Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Carpal tunnel syndrome 2, Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25511791.	NM_000095.3(COMP):c.*1G>C GRCh37: Chr19:18893724 GRCh38: Chr19:18782914	COMP		not specified, not provided, Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Benign (Aug 20, 2018)	criteria provided, multiple submitters, no conflicts
Select item 19762792.	NM_000095.3(COMP):c.511G>A (p.Ala171Thr) GRCh37: Chr19:18899986 GRCh38: Chr19:18789177	COMP	A171T	Connective tissue disorder, not specified, not provided, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1, Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Carpal tunnel syndrome 2	Benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4099793.	NM_000095.3(COMP):c.2155G>A (p.Gly719Ser) GRCh37: Chr19:18893936 GRCh38: Chr19:18783126	COMP	G719S	not provided	Pathogenic/Likely pathogenic (Jul 18, 2023)	criteria provided, multiple submitters, no conflicts
Select item 4099694.	NM_000095.3(COMP):c.1760A>G (p.His587Arg) GRCh37: Chr19:18895860 GRCh38: Chr19:18785050	COMP	H587R	not provided	Pathogenic/Likely pathogenic (Apr 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4099595.	NM_000095.3(COMP):c.1754C>T (p.Thr585Met) GRCh37: Chr19:18895866 GRCh38: Chr19:18785056	COMP	T585M	not provided	Pathogenic (Feb 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4099496.	NM_000095.3(COMP):c.1754C>G (p.Thr585Arg) GRCh37: Chr19:18895866 GRCh38: Chr19:18785056	COMP	T585R	Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Carpal tunnel syndrome 2	Pathogenic (Oct 22, 2021)	criteria provided, single submitter
Select item 4099397.	NM_000095.3(COMP):c.1754C>A (p.Thr585Lys) GRCh37: Chr19:18895866 GRCh38: Chr19:18785056	COMP	T585K	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	not provided	no assertion provided
Select item 4099298.	NM_000095.3(COMP):c.1747G>A (p.Glu583Lys) GRCh37: Chr19:18895873 GRCh38: Chr19:18785063	COMP	E583K	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	not provided	no assertion provided
Select item 4099099.	NM_000095.3(COMP):c.1586C>T (p.Thr529Ile) GRCh37: Chr19:18896565 GRCh38: Chr19:18785755	COMP	T529I	not provided	Uncertain significance (Apr 6, 2017)	criteria provided, single submitter
Select item 40988100.	NM_000095.3(COMP):c.1405GAC[4] (p.Asp473del) GRCh37: Chr19:18896845-18896847 GRCh38: Chr19:18786035-18786037	COMP	D473del	not provided, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1	Pathogenic (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts

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