ClinVar for MedGen (Select 395189) - ClinVar

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Items: 74

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 16691481.	NM_000316.3(PTH1R):c.1117-8T>C GRCh37: Chr3:46943248 GRCh38: Chr3:46901758	PTH1R		Eiken syndrome, Metaphyseal chondrodysplasia, Jansen type, Primary failure of tooth eruption, Chondrodysplasia Blomstrand type, not provided	Likely benign (Sep 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16568652.	NM_000316.3(PTH1R):c.638+12G>C GRCh37: Chr3:46939974 GRCh38: Chr3:46898484	PTH1R		Eiken syndrome, Metaphyseal chondrodysplasia, Jansen type, Primary failure of tooth eruption, Chondrodysplasia Blomstrand type, not provided	Likely benign (Dec 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 16294083.	NM_000316.3(PTH1R):c.1396-19G>A GRCh37: Chr3:46944741 GRCh38: Chr3:46903251	PTH1R		Metaphyseal chondrodysplasia, Jansen type, Primary failure of tooth eruption, Chondrodysplasia Blomstrand type, Eiken syndrome, not provided	Likely benign (Mar 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16216174.	NM_000316.3(PTH1R):c.638+12G>A GRCh37: Chr3:46939974 GRCh38: Chr3:46898484	PTH1R		not provided, Metaphyseal chondrodysplasia, Jansen type, Primary failure of tooth eruption, Chondrodysplasia Blomstrand type, Eiken syndrome	Likely benign (Oct 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 15991275.	NM_000316.3(PTH1R):c.1212-18C>T GRCh37: Chr3:46943998 GRCh38: Chr3:46902508	PTH1R		Primary failure of tooth eruption, Metaphyseal chondrodysplasia, Jansen type, Chondrodysplasia Blomstrand type, Eiken syndrome, not provided	Benign/Likely benign (Jun 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 15956196.	NM_000316.3(PTH1R):c.1254C>T (p.Gly418=) GRCh37: Chr3:46944058 GRCh38: Chr3:46902568	PTH1R		Primary failure of tooth eruption, Metaphyseal chondrodysplasia, Jansen type, Chondrodysplasia Blomstrand type, Eiken syndrome, not provided	Likely benign (Oct 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14510557.	NM_000316.3(PTH1R):c.749T>C (p.Leu250Pro) GRCh37: Chr3:46940262 GRCh38: Chr3:46898772	PTH1R	L250P	Chondrodysplasia Blomstrand type, Eiken syndrome, Primary failure of tooth eruption, Metaphyseal chondrodysplasia, Jansen type, not provided	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14426238.	NM_000316.3(PTH1R):c.629C>T (p.Ala210Val) GRCh37: Chr3:46939953 GRCh38: Chr3:46898463	PTH1R	A210V	not provided, Primary failure of tooth eruption, Chondrodysplasia Blomstrand type, Eiken syndrome, Metaphyseal chondrodysplasia, Jansen type	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14011769.	NM_000316.3(PTH1R):c.449G>T (p.Arg150Leu) GRCh37: Chr3:46939588 GRCh38: Chr3:46898098	PTH1R	R150L	Metaphyseal chondrodysplasia, Jansen type, Primary failure of tooth eruption, Chondrodysplasia Blomstrand type, Eiken syndrome, not provided	Uncertain significance (Apr 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138656610.	NM_000316.3(PTH1R):c.1736A>C (p.Glu579Ala) GRCh37: Chr3:46945100 GRCh38: Chr3:46903610	PTH1R	E579A	Primary failure of tooth eruption, Chondrodysplasia Blomstrand type, Eiken syndrome, Metaphyseal chondrodysplasia, Jansen type, not provided	Uncertain significance (Oct 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 137107911.	NM_000316.3(PTH1R):c.1198C>T (p.Arg400Trp) GRCh37: Chr3:46943337 GRCh38: Chr3:46901847	PTH1R	R400W	not provided, Chondrodysplasia Blomstrand type, Eiken syndrome, Primary failure of tooth eruption, Metaphyseal chondrodysplasia, Jansen type	Uncertain significance (Apr 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 135594912.	NM_000316.3(PTH1R):c.1742C>G (p.Pro581Arg) GRCh37: Chr3:46945106 GRCh38: Chr3:46903616	PTH1R	P581R	not provided, Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia, Jansen type, Primary failure of tooth eruption, Eiken syndrome	Uncertain significance (Sep 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 135133013.	NM_000316.3(PTH1R):c.1531C>G (p.Arg511Gly) GRCh37: Chr3:46944895 GRCh38: Chr3:46903405	PTH1R	R511G	not provided, Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia, Jansen type, Primary failure of tooth eruption, Eiken syndrome	Uncertain significance (Nov 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 130911014.	NM_000316.3(PTH1R):c.1696G>A (p.Gly566Ser) GRCh37: Chr3:46945060 GRCh38: Chr3:46903570	PTH1R	G566S	Primary failure of tooth eruption, Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia, Jansen type, Eiken syndrome, not provided	Uncertain significance (May 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 123794415.	NM_000316.3(PTH1R):c.178+28G>T GRCh37: Chr3:46935527 GRCh38: Chr3:46894037	PTH1R		Eiken syndrome, not provided, Metaphyseal chondrodysplasia, Jansen type, Chondrodysplasia Blomstrand type, Primary failure of tooth eruption	Benign (Nov 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 105098116.	NM_000316.3(PTH1R):c.1645G>A (p.Glu549Lys) GRCh37: Chr3:46945009 GRCh38: Chr3:46903519	PTH1R	E549K	not provided, Primary failure of tooth eruption, Chondrodysplasia Blomstrand type, Eiken syndrome, Metaphyseal chondrodysplasia, Jansen type	Uncertain significance (Mar 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 104665517.	NM_000316.3(PTH1R):c.543+4C>T GRCh37: Chr3:46939686 GRCh38: Chr3:46898196	PTH1R		not provided, Primary failure of tooth eruption, Chondrodysplasia Blomstrand type, Eiken syndrome, Metaphyseal chondrodysplasia, Jansen type	Uncertain significance (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 101575018.	NM_000316.3(PTH1R):c.1672C>T (p.Pro558Ser) GRCh37: Chr3:46945036 GRCh38: Chr3:46903546	PTH1R	P558S	not provided, Primary failure of tooth eruption, Chondrodysplasia Blomstrand type, Eiken syndrome, Metaphyseal chondrodysplasia, Jansen type	Uncertain significance (Aug 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 101446219.	NM_000316.3(PTH1R):c.1112T>C (p.Ile371Thr) GRCh37: Chr3:46942966 GRCh38: Chr3:46901476	PTH1R	I371T	not provided, Eiken syndrome, Primary failure of tooth eruption, Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia, Jansen type	Uncertain significance (Dec 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 90318920.	NM_000316.3(PTH1R):c.1738C>T (p.Arg580Trp) GRCh37: Chr3:46945102 GRCh38: Chr3:46903612	PTH1R	R580W	not provided, Metaphyseal chondrodysplasia, Jansen type, Primary failure of tooth eruption, Chondrodysplasia Blomstrand type, Eiken syndrome, Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia, Jansen type	Uncertain significance (Jul 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90313121.	NM_000316.3(PTH1R):c.1182C>T (p.Ala394=) GRCh37: Chr3:46943321 GRCh38: Chr3:46901831	PTH1R		not provided, Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia, Jansen type	Conflicting interpretations of pathogenicity (Feb 3, 2022)	criteria provided, conflicting interpretations
Select item 90306822.	NM_000316.3(PTH1R):c.408T>C (p.Tyr136=) GRCh37: Chr3:46939439 GRCh38: Chr3:46897949	PTH1R		Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia, Jansen type	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90301923.	NM_000316.3(PTH1R):c.-64C>A GRCh37: Chr3:46922593 GRCh38: Chr3:46881103	MYL3, PTH1R		Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia, Jansen type	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90232424.	NM_000316.3(PTH1R):c.1732C>T (p.Pro578Ser) GRCh37: Chr3:46945096 GRCh38: Chr3:46903606	PTH1R	P578S	Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia, Jansen type	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90232325.	NM_000316.3(PTH1R):c.1695C>T (p.Asn565=) GRCh37: Chr3:46945059 GRCh38: Chr3:46903569	PTH1R		not provided, Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia, Jansen type	Conflicting interpretations of pathogenicity (Jul 5, 2022)	criteria provided, conflicting interpretations
Select item 90226026.	NM_000316.3(PTH1R):c.1048G>A (p.Gly350Arg) GRCh37: Chr3:46942574 GRCh38: Chr3:46901084	PTH1R	G350R	Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia, Jansen type	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90225927.	NM_000316.3(PTH1R):c.827C>T (p.Ala276Val) GRCh37: Chr3:46940340 GRCh38: Chr3:46898850	PTH1R	A276V	Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia, Jansen type	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 90057328.	NM_000316.3(PTH1R):c.691A>G (p.Met231Val) GRCh37: Chr3:46940204 GRCh38: Chr3:46898714	PTH1R	M231V	Metaphyseal chondrodysplasia, Jansen type, Primary failure of tooth eruption, Chondrodysplasia Blomstrand type, Eiken syndrome, Metaphyseal chondrodysplasia, Jansen type, Chondrodysplasia Blomstrand type	Uncertain significance (Feb 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90057229.	NM_000316.3(PTH1R):c.662A>G (p.Tyr221Cys) GRCh37: Chr3:46940175 GRCh38: Chr3:46898685	PTH1R	Y221C	Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia, Jansen type	Uncertain significance (Jan 1, 2019)	criteria provided, multiple submitters, no conflicts
Select item 90057130.	NM_000316.3(PTH1R):c.638+11C>A GRCh37: Chr3:46939973 GRCh38: Chr3:46898483	PTH1R		Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia, Jansen type	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90052731.	NM_000316.3(PTH1R):c.137C>A (p.Ala46Asp) GRCh37: Chr3:46935458 GRCh38: Chr3:46893968	PTH1R	A46D	Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia, Jansen type	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 89951332.	NM_000316.3(PTH1R):c.1330G>A (p.Glu444Lys) GRCh37: Chr3:46944134 GRCh38: Chr3:46902644	PTH1R	E444K	Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia, Jansen type	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 89944433.	NM_000316.3(PTH1R):c.449G>A (p.Arg150His) GRCh37: Chr3:46939588 GRCh38: Chr3:46898098	PTH1R	R150H	Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia, Jansen type	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 89940834.	NM_000316.3(PTH1R):c.57C>G (p.Leu19=) GRCh37: Chr3:46925106 GRCh38: Chr3:46883616	PTH1R		Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia, Jansen type	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 79861535.	NM_000316.3(PTH1R):c.615T>C (p.Ala205=) GRCh37: Chr3:46939939 GRCh38: Chr3:46898449	PTH1R		not provided, Primary failure of tooth eruption, Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia, Jansen type, Eiken syndrome	Likely benign (Nov 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 75060836.	NM_000316.3(PTH1R):c.771C>A (p.Thr257=) GRCh37: Chr3:46940284 GRCh38: Chr3:46898794	PTH1R		not provided, Primary failure of tooth eruption, Chondrodysplasia Blomstrand type, Eiken syndrome, Metaphyseal chondrodysplasia, Jansen type, Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia, Jansen type	Benign/Likely benign (Jan 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 73328637.	NM_000316.3(PTH1R):c.1212-10G>A GRCh37: Chr3:46944006 GRCh38: Chr3:46902516	PTH1R		not provided, Metaphyseal chondrodysplasia, Jansen type, Chondrodysplasia Blomstrand type	Conflicting interpretations of pathogenicity (Oct 7, 2022)	criteria provided, conflicting interpretations
Select item 34560238.	NM_000316.3(PTH1R):c.*7G>A GRCh37: Chr3:46945153 GRCh38: Chr3:46903663	PTH1R		Connective tissue disorder, Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia, Jansen type	Likely benign (May 1, 2020)	criteria provided, multiple submitters, no conflicts
Select item 34560139.	NM_000316.3(PTH1R):c.1644C>T (p.Leu548=) GRCh37: Chr3:46945008 GRCh38: Chr3:46903518	PTH1R		not provided, Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia, Jansen type	Conflicting interpretations of pathogenicity (Oct 15, 2022)	criteria provided, conflicting interpretations
Select item 34560040.	NM_000316.3(PTH1R):c.1636G>A (p.Glu546Lys) GRCh37: Chr3:46945000 GRCh38: Chr3:46903510	PTH1R	E546K	Connective tissue disorder, not provided, Metaphyseal chondrodysplasia, Jansen type, Chondrodysplasia Blomstrand type	Benign/Likely benign (Jun 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 34559941.	NM_000316.3(PTH1R):c.1586A>G (p.Asn529Ser) GRCh37: Chr3:46944950 GRCh38: Chr3:46903460	PTH1R	N529S	Inborn genetic diseases, not provided, Metaphyseal chondrodysplasia, Jansen type, Eiken syndrome, Primary failure of tooth eruption, Chondrodysplasia Blomstrand type, Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia, Jansen type	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34559842.	NM_000316.3(PTH1R):c.1427G>A (p.Arg476His) GRCh37: Chr3:46944791 GRCh38: Chr3:46903301	PTH1R	R476H	Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia, Jansen type	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 34559743.	NM_000316.3(PTH1R):c.1395+15G>A GRCh37: Chr3:46944295 GRCh38: Chr3:46902805	PTH1R		not provided, Primary failure of tooth eruption, Eiken syndrome, Metaphyseal chondrodysplasia, Jansen type, Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia, Jansen type, Chondrodysplasia Blomstrand type	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34559644.	NM_000316.3(PTH1R):c.1389T>C (p.Asn463=) GRCh37: Chr3:46944274 GRCh38: Chr3:46902784	PTH1R		not provided, Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia, Jansen type, Eiken syndrome, Primary failure of tooth eruption	Benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34559545.	NM_000316.3(PTH1R):c.1305G>A (p.Thr435=) GRCh37: Chr3:46944109 GRCh38: Chr3:46902619	PTH1R		Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia, Jansen type, not provided, Primary failure of tooth eruption, Chondrodysplasia Blomstrand type, Eiken syndrome, Metaphyseal chondrodysplasia, Jansen type, Connective tissue disorder	Benign/Likely benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34559446.	NM_000316.3(PTH1R):c.1255G>A (p.Val419Ile) GRCh37: Chr3:46944059 GRCh38: Chr3:46902569	PTH1R	V419I	not specified, not provided, Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia, Jansen type	Conflicting interpretations of pathogenicity (Dec 29, 2021)	criteria provided, conflicting interpretations
Select item 34559347.	NM_000316.3(PTH1R):c.1152G>T (p.Val384=) GRCh37: Chr3:46943291 GRCh38: Chr3:46901801	PTH1R		not provided, Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia, Jansen type	Conflicting interpretations of pathogenicity (Feb 19, 2022)	criteria provided, conflicting interpretations
Select item 34559248.	NM_000316.3(PTH1R):c.1050-3dup GRCh37: Chr3:46942896-46942897 GRCh38: Chr3:46901406-46901407	PTH1R		Chondrodysplasia, Metaphyseal chondrodysplasia, Jansen type, Eiken syndrome, Primary failure of tooth eruption, Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia	Uncertain significance (Aug 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 34559149.	NM_000316.3(PTH1R):c.876G>T (p.Leu292=) GRCh37: Chr3:46940834 GRCh38: Chr3:46899344	PTH1R		Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia, Jansen type	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 34559050.	NM_000316.3(PTH1R):c.638+7G>A GRCh37: Chr3:46939969 GRCh38: Chr3:46898479	PTH1R		Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia, Jansen type	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34558951.	NM_000316.3(PTH1R):c.543+14T>C GRCh37: Chr3:46939696 GRCh38: Chr3:46898206	PTH1R		not provided, Metaphyseal chondrodysplasia, Jansen type, Chondrodysplasia Blomstrand type	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34558852.	NM_000316.3(PTH1R):c.473C>G (p.Pro158Arg) GRCh37: Chr3:46939612 GRCh38: Chr3:46898122	PTH1R	P158R	Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia, Jansen type	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34558753.	NM_000316.3(PTH1R):c.436C>A (p.Arg146=) GRCh37: Chr3:46939575 GRCh38: Chr3:46898085	PTH1R		Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia, Jansen type, not provided	Benign/Likely benign (Oct 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34558654.	NM_000316.3(PTH1R):c.375G>A (p.Glu125=) GRCh37: Chr3:46939406 GRCh38: Chr3:46897916	PTH1R		not provided, Metaphyseal chondrodysplasia, Jansen type, Eiken syndrome, Primary failure of tooth eruption, Chondrodysplasia Blomstrand type, Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia, Jansen type	Benign/Likely benign (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34558555.	NM_000316.3(PTH1R):c.357G>A (p.Pro119=) GRCh37: Chr3:46939388 GRCh38: Chr3:46897898	PTH1R		not specified, not provided, Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia, Jansen type	Benign/Likely benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34558256.	NM_000316.3(PTH1R):c.313+4C>T GRCh37: Chr3:46937363 GRCh38: Chr3:46895873	PTH1R		Metaphyseal chondrodysplasia, Jansen type, Chondrodysplasia Blomstrand type, not provided	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 34558157.	NM_000316.3(PTH1R):c.299G>A (p.Gly100Asp) GRCh37: Chr3:46937345 GRCh38: Chr3:46895855	PTH1R	G100D	not specified, Metaphyseal chondrodysplasia, Jansen type, Chondrodysplasia Blomstrand type, Connective tissue disorder, not provided	Benign/Likely benign (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34558058.	NM_000316.3(PTH1R):c.226G>C (p.Gly76Arg) GRCh37: Chr3:46937272 GRCh38: Chr3:46895782	PTH1R	G76R	Chondrodysplasia Blomstrand type, Connective tissue disorder, Inborn genetic diseases, Metaphyseal chondrodysplasia, Jansen type, not provided	Conflicting interpretations of pathogenicity (Aug 16, 2022)	criteria provided, conflicting interpretations
Select item 34557959.	NM_000316.3(PTH1R):c.216G>A (p.Ala72=) GRCh37: Chr3:46937262 GRCh38: Chr3:46895772	PTH1R		Eiken syndrome, Primary failure of tooth eruption, Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia, Jansen type, Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia, Jansen type, not provided	Benign/Likely benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34557860.	NM_000316.3(PTH1R):c.144C>T (p.Cys48=) GRCh37: Chr3:46935465 GRCh38: Chr3:46893975	PTH1R		not provided, Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia, Jansen type	Conflicting interpretations of pathogenicity (Aug 15, 2022)	criteria provided, conflicting interpretations
Select item 34557761.	NM_000316.3(PTH1R):c.128G>A (p.Arg43His) GRCh37: Chr3:46935449 GRCh38: Chr3:46893959	PTH1R	R43H	not provided, Metaphyseal chondrodysplasia, Jansen type, Eiken syndrome, Primary failure of tooth eruption, Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia, Jansen type, Chondrodysplasia Blomstrand type	Benign/Likely benign (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34557662.	NM_000316.3(PTH1R):c.75+12G>A GRCh37: Chr3:46925136 GRCh38: Chr3:46883646	PTH1R		not provided, Metaphyseal chondrodysplasia, Jansen type, Eiken syndrome, Primary failure of tooth eruption, Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia, Jansen type, Chondrodysplasia Blomstrand type	Benign/Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34557563.	NM_000316.3(PTH1R):c.75+9C>T GRCh37: Chr3:46925133 GRCh38: Chr3:46883643	PTH1R		not provided, Connective tissue disorder, Metaphyseal chondrodysplasia, Jansen type, Chondrodysplasia Blomstrand type	Conflicting interpretations of pathogenicity (Sep 1, 2022)	criteria provided, conflicting interpretations
Select item 34557464.	NM_000316.3(PTH1R):c.-37G>A GRCh37: Chr3:46925013 GRCh38: Chr3:46883523	PTH1R		Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia, Jansen type	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 34557365.	NM_000316.3(PTH1R):c.-166G>A GRCh37: Chr3:46919273 GRCh38: Chr3:46877783	MYL3, PTH1R		Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia, Jansen type	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 28822466.	NM_000316.3(PTH1R):c.1753C>G (p.Leu585Val) GRCh37: Chr3:46945117 GRCh38: Chr3:46903627	PTH1R	L585V	not provided, Primary failure of tooth eruption, Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia, Jansen type, Eiken syndrome	Uncertain significance (Dec 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 28124767.	NM_000316.3(PTH1R):c.448C>T (p.Arg150Cys) GRCh37: Chr3:46939587 GRCh38: Chr3:46898097	PTH1R	R150C	Connective tissue disorder, not provided, not specified, Metaphyseal chondrodysplasia, Jansen type, Chondrodysplasia Blomstrand type	Benign/Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6440268.	NM_000316.3(PTH1R):c.805C>T (p.Pro269Ser) GRCh37: Chr3:46940318 GRCh38: Chr3:46898828	PTH1R	P269S	Eiken syndrome, Primary failure of tooth eruption, Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia, Jansen type	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 6439869.	NM_000316.3(PTH1R):c.1304C>T (p.Thr435Met) GRCh37: Chr3:46944108 GRCh38: Chr3:46902618	PTH1R	T435M	not provided, Metaphyseal chondrodysplasia, Jansen type, Chondrodysplasia Blomstrand type	Conflicting interpretations of pathogenicity (Oct 5, 2022)	criteria provided, conflicting interpretations
Select item 1375170.	NM_000316.3(PTH1R):c.1049+29C>T GRCh37: Chr3:46942604 GRCh38: Chr3:46901114	PTH1R		Chondrodysplasia Blomstrand type	Pathogenic (Mar 1, 2007)	no assertion criteria provided
Select item 1375071.	NM_000316.3(PTH1R):c.310C>T (p.Arg104Ter) GRCh37: Chr3:46937356 GRCh38: Chr3:46895866	PTH1R	R104*	Chondrodysplasia Blomstrand type	Pathogenic (Mar 1, 2007)	no assertion criteria provided
Select item 1374672.	NM_000316.3(PTH1R):c.1093del (p.Val365fs) GRCh37: Chr3:46942946 GRCh38: Chr3:46901456	PTH1R	V365fs	Chondrodysplasia Blomstrand type	Pathogenic (Oct 1, 1999)	no assertion criteria provided
Select item 1374573.	NM_000316.3(PTH1R):c.395C>T (p.Pro132Leu) GRCh37: Chr3:46939426 GRCh38: Chr3:46897936	PTH1R	P132L	Chondrodysplasia Blomstrand type, Eiken syndrome, Primary failure of tooth eruption, Metaphyseal chondrodysplasia, Jansen type	Pathogenic (Sep 30, 2021)	criteria provided, single submitter
Select item 1374474.	NM_000316.3(PTH1R):c.1148G>A (p.Arg383Gln) GRCh37: Chr3:46943287 GRCh38: Chr3:46901797	PTH1R	R383Q	not provided	Pathogenic (Jun 8, 2022)	criteria provided, single submitter

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Items: 74