ClinVar for MedGen (Select 120529) - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2442127	NM_000316.3(PTH1R):c.1291G>A (p.Glu431Lys)	PTH1R (E431K)	Single nucleotide variant (missense variant)	Metaphyseal chondrodysplasia, Jansen type	GUncertain significance
Select item 1669148	NM_000316.3(PTH1R):c.1117-8T>C	PTH1R	Single nucleotide variant (intron variant)	PTH1R-related condition +5 more	GLikely benign
Select item 1656865	NM_000316.3(PTH1R):c.638+12G>C	PTH1R	Single nucleotide variant (intron variant)	not provided +4 more	GLikely benign
Select item 1629408	NM_000316.3(PTH1R):c.1396-19G>A	PTH1R	Single nucleotide variant (intron variant)	not provided +4 more	GLikely benign
Select item 1621617	NM_000316.3(PTH1R):c.638+12G>A	PTH1R	Single nucleotide variant (intron variant)	not provided +4 more	GLikely benign
Select item 1599127	NM_000316.3(PTH1R):c.1212-18C>T	PTH1R	Single nucleotide variant (intron variant)	Eiken syndrome +4 more	GBenign/Likely benign
Select item 1595619	NM_000316.3(PTH1R):c.1254C>T (p.Gly418=)	PTH1R	Single nucleotide variant (synonymous variant)	Metaphyseal chondrodysplasia, Jansen type +4 more	GLikely benign
Select item 1451055	NM_000316.3(PTH1R):c.749T>C (p.Leu250Pro)	PTH1R (L250P)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1442623	NM_000316.3(PTH1R):c.629C>T (p.Ala210Val)	PTH1R (A210V)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1401176	NM_000316.3(PTH1R):c.449G>T (p.Arg150Leu)	PTH1R (R150L)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1395519	NM_000316.3(PTH1R):c.1393G>A (p.Glu465Lys)	PTH1R (E465K)	Single nucleotide variant (missense variant)	PTH1R-related condition +3 more	GUncertain significance
Select item 1386566	NM_000316.3(PTH1R):c.1736A>C (p.Glu579Ala)	PTH1R (E579A)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1371079	NM_000316.3(PTH1R):c.1198C>T (p.Arg400Trp)	PTH1R (R400W)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1355949	NM_000316.3(PTH1R):c.1742C>G (p.Pro581Arg)	PTH1R (P581R)	Single nucleotide variant (missense variant)	Primary failure of tooth eruption +4 more	GUncertain significance
Select item 1351330	NM_000316.3(PTH1R):c.1531C>G (p.Arg511Gly)	PTH1R (R511G)	Single nucleotide variant (missense variant)	Primary failure of tooth eruption +4 more	GUncertain significance
Select item 1309110	NM_000316.3(PTH1R):c.1696G>A (p.Gly566Ser)	PTH1R (G566S)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1237944	NM_000316.3(PTH1R):c.178+28G>T	PTH1R	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 1050981	NM_000316.3(PTH1R):c.1645G>A (p.Glu549Lys)	PTH1R (E549K)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1046655	NM_000316.3(PTH1R):c.543+4C>T	PTH1R	Single nucleotide variant (intron variant)	Primary failure of tooth eruption +4 more	GUncertain significance
Select item 1030731	NM_000316.3(PTH1R):c.1373T>A (p.Ile458Lys)	PTH1R (I458K)	Single nucleotide variant (missense variant)	Metaphyseal chondrodysplasia, Jansen type	GPathogenic
Select item 1015750	NM_000316.3(PTH1R):c.1672C>T (p.Pro558Ser)	PTH1R (P558S)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1014462	NM_000316.3(PTH1R):c.1112T>C (p.Ile371Thr)	PTH1R (I371T)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 953070	NM_000316.3(PTH1R):c.617T>C (p.Val206Ala)	PTH1R (V206A)	Single nucleotide variant (missense variant)	Metaphyseal chondrodysplasia, Jansen type	GUncertain significance
Select item 903189	NM_000316.3(PTH1R):c.1738C>T (p.Arg580Trp)	PTH1R (R580W)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 903131	NM_000316.3(PTH1R):c.1182C>T (p.Ala394=)	PTH1R	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 903068	NM_000316.3(PTH1R):c.408T>C (p.Tyr136=)	PTH1R	Single nucleotide variant (synonymous variant)	Chondrodysplasia Blomstrand type +1 more	GUncertain significance
Select item 903019	NM_000316.3(PTH1R):c.-64C>A	MYL3, PTH1R	Single nucleotide variant (5 prime UTR variant)	Chondrodysplasia Blomstrand type +1 more	GUncertain significance
Select item 902324	NM_000316.3(PTH1R):c.1732C>T (p.Pro578Ser)	PTH1R (P578S)	Single nucleotide variant (missense variant)	Chondrodysplasia Blomstrand type +1 more	GUncertain significance
Select item 902323	NM_000316.3(PTH1R):c.1695C>T (p.Asn565=)	PTH1R	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 902260	NM_000316.3(PTH1R):c.1048G>A (p.Gly350Arg)	PTH1R (G350R)	Single nucleotide variant (missense variant)	Chondrodysplasia Blomstrand type +1 more	GUncertain significance
Select item 902259	NM_000316.3(PTH1R):c.827C>T (p.Ala276Val)	PTH1R (A276V)	Single nucleotide variant (missense variant)	Chondrodysplasia Blomstrand type +1 more	GUncertain significance
Select item 900573	NM_000316.3(PTH1R):c.691A>G (p.Met231Val)	PTH1R (M231V)	Single nucleotide variant (missense variant)	Chondrodysplasia Blomstrand type +4 more	GUncertain significance
Select item 900572	NM_000316.3(PTH1R):c.662A>G (p.Tyr221Cys)	PTH1R (Y221C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 900571	NM_000316.3(PTH1R):c.638+11C>A	PTH1R	Single nucleotide variant (intron variant)	Chondrodysplasia Blomstrand type +1 more	GUncertain significance
Select item 900527	NM_000316.3(PTH1R):c.137C>A (p.Ala46Asp)	PTH1R (A46D)	Single nucleotide variant (missense variant)	Chondrodysplasia Blomstrand type +1 more	GConflicting classifications of pathogenicity
Select item 899513	NM_000316.3(PTH1R):c.1330G>A (p.Glu444Lys)	PTH1R (E444K)	Single nucleotide variant (missense variant)	Chondrodysplasia Blomstrand type +1 more	GUncertain significance
Select item 899444	NM_000316.3(PTH1R):c.449G>A (p.Arg150His)	PTH1R (R150H)	Single nucleotide variant (missense variant)	Metaphyseal chondrodysplasia, Jansen type +1 more	GConflicting classifications of pathogenicity
Select item 899408	NM_000316.3(PTH1R):c.57C>G (p.Leu19=)	PTH1R	Single nucleotide variant (synonymous variant)	Chondrodysplasia Blomstrand type +1 more	GUncertain significance
Select item 798615	NM_000316.3(PTH1R):c.615T>C (p.Ala205=)	PTH1R	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 750608	NM_000316.3(PTH1R):c.771C>A (p.Thr257=)	PTH1R	Single nucleotide variant (synonymous variant)	Metaphyseal chondrodysplasia, Jansen type +4 more	GBenign/Likely benign
Select item 733286	NM_000316.3(PTH1R):c.1212-10G>A	PTH1R	Single nucleotide variant (intron variant)	Chondrodysplasia Blomstrand type +2 more	GConflicting classifications of pathogenicity
Select item 592121	NM_000316.3(PTH1R):c.611T>A (p.Val204Glu)	PTH1R (V204E)	Single nucleotide variant (missense variant)	Metaphyseal chondrodysplasia, Jansen type	GLikely pathogenic
Select item 345602	NM_000316.3(PTH1R):c.*7G>A	PTH1R	Single nucleotide variant (3 prime UTR variant)	Connective tissue disorder +2 more	GLikely benign
Select item 345601	NM_000316.3(PTH1R):c.1644C>T (p.Leu548=)	PTH1R	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 345600	NM_000316.3(PTH1R):c.1636G>A (p.Glu546Lys)	PTH1R (E546K)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 345599	NM_000316.3(PTH1R):c.1586A>G (p.Asn529Ser)	PTH1R (N529S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 345598	NM_000316.3(PTH1R):c.1427G>A (p.Arg476His)	PTH1R (R476H)	Single nucleotide variant (missense variant)	Chondrodysplasia Blomstrand type +2 more	GConflicting classifications of pathogenicity
Select item 345597	NM_000316.3(PTH1R):c.1395+15G>A	PTH1R	Single nucleotide variant (intron variant)	Chondrodysplasia Blomstrand type +4 more	GBenign/Likely benign
Select item 345596	NM_000316.3(PTH1R):c.1389T>C (p.Asn463=)	PTH1R	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 345595	NM_000316.3(PTH1R):c.1305G>A (p.Thr435=)	PTH1R	Single nucleotide variant (synonymous variant)	Connective tissue disorder +5 more	GBenign/Likely benign
Select item 345594	NM_000316.3(PTH1R):c.1255G>A (p.Val419Ile)	PTH1R (V419I)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 345593	NM_000316.3(PTH1R):c.1152G>T (p.Val384=)	PTH1R	Single nucleotide variant (synonymous variant)	Chondrodysplasia Blomstrand type +2 more	GConflicting classifications of pathogenicity
Select item 345592	NM_000316.3(PTH1R):c.1050-3dup	PTH1R	Duplication (intron variant)	PTH1R-related condition +7 more	GConflicting classifications of pathogenicity
Select item 345591	NM_000316.3(PTH1R):c.876G>T (p.Leu292=)	PTH1R	Single nucleotide variant (synonymous variant)	Chondrodysplasia Blomstrand type +1 more	GConflicting classifications of pathogenicity
Select item 345590	NM_000316.3(PTH1R):c.638+7G>A	PTH1R	Single nucleotide variant (intron variant)	Chondrodysplasia Blomstrand type +1 more	GUncertain significance
Select item 345589	NM_000316.3(PTH1R):c.543+14T>C	PTH1R	Single nucleotide variant (intron variant)	Chondrodysplasia Blomstrand type +2 more	GBenign
Select item 345588	NM_000316.3(PTH1R):c.473C>G (p.Pro158Arg)	PTH1R (P158R)	Single nucleotide variant (missense variant)	Chondrodysplasia Blomstrand type +1 more	GUncertain significance
Select item 345587	NM_000316.3(PTH1R):c.436C>A (p.Arg146=)	PTH1R	Single nucleotide variant (synonymous variant)	Chondrodysplasia Blomstrand type +2 more	GBenign/Likely benign
Select item 345586	NM_000316.3(PTH1R):c.375G>A (p.Glu125=)	LOC129936652, PTH1R	Single nucleotide variant (synonymous variant)	Metaphyseal chondrodysplasia, Jansen type +4 more	GBenign/Likely benign
Select item 345585	NM_000316.3(PTH1R):c.357G>A (p.Pro119=)	LOC129936652, PTH1R	Single nucleotide variant (synonymous variant)	Chondrodysplasia Blomstrand type +3 more	GBenign/Likely benign
Select item 345582	NM_000316.3(PTH1R):c.313+4C>T	PTH1R	Single nucleotide variant (intron variant)	Chondrodysplasia Blomstrand type +2 more	GConflicting classifications of pathogenicity
Select item 345581	NM_000316.3(PTH1R):c.299G>A (p.Gly100Asp)	PTH1R (G100D)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 345580	NM_000316.3(PTH1R):c.226G>C (p.Gly76Arg)	PTH1R (G76R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 345579	NM_000316.3(PTH1R):c.216G>A (p.Ala72=)	PTH1R	Single nucleotide variant (synonymous variant)	Chondrodysplasia Blomstrand type +4 more	GBenign/Likely benign
Select item 345578	NM_000316.3(PTH1R):c.144C>T (p.Cys48=)	PTH1R	Single nucleotide variant (synonymous variant)	Chondrodysplasia Blomstrand type +2 more	GConflicting classifications of pathogenicity
Select item 345577	NM_000316.3(PTH1R):c.128G>A (p.Arg43His)	PTH1R (R43H)	Single nucleotide variant (missense variant)	PTH1R-related condition +5 more	GBenign/Likely benign
Select item 345576	NM_000316.3(PTH1R):c.75+12G>A	PTH1R	Single nucleotide variant (intron variant)	Chondrodysplasia Blomstrand type +4 more	GBenign/Likely benign
Select item 345575	NM_000316.3(PTH1R):c.75+9C>T	PTH1R	Single nucleotide variant (intron variant)	Chondrodysplasia Blomstrand type +3 more	GConflicting classifications of pathogenicity
Select item 345574	NM_000316.3(PTH1R):c.-37G>A	PTH1R	Single nucleotide variant (5 prime UTR variant)	Chondrodysplasia Blomstrand type +1 more	GBenign/Likely benign
Select item 345573	NM_000316.3(PTH1R):c.-166G>A	MYL3, PTH1R	Single nucleotide variant (5 prime UTR variant)	Chondrodysplasia Blomstrand type +1 more	GUncertain significance
Select item 288224	NM_000316.3(PTH1R):c.1753C>G (p.Leu585Val)	PTH1R (L585V)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 281247	NM_000316.3(PTH1R):c.448C>T (p.Arg150Cys)	PTH1R (R150C)	Single nucleotide variant (missense variant)	Metaphyseal chondrodysplasia, Jansen type +4 more	GBenign/Likely benign
Select item 64402	NM_000316.3(PTH1R):c.805C>T (p.Pro269Ser)	PTH1R (P269S)	Single nucleotide variant (missense variant)	Eiken syndrome +3 more	GUncertain significance
Select item 64398	NM_000316.3(PTH1R):c.1304C>T (p.Thr435Met)	PTH1R (T435M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 13748	NM_000316.3(PTH1R):c.1229C>G (p.Thr410Arg)	PTH1R (T410R)	Single nucleotide variant (missense variant)	Metaphyseal chondrodysplasia, Jansen type	GPathogenic
Select item 13747	NM_000316.3(PTH1R):c.1373T>G (p.Ile458Arg)	PTH1R (I458R)	Single nucleotide variant (missense variant)	Metaphyseal chondrodysplasia, Jansen type	GPathogenic
Select item 13745	NM_000316.3(PTH1R):c.395C>T (p.Pro132Leu)	LOC129936652, PTH1R (P132L)	Single nucleotide variant (missense variant)	Metaphyseal chondrodysplasia, Jansen type +3 more	GPathogenic
Select item 13743	NM_000316.3(PTH1R):c.1228A>C (p.Thr410Pro)	PTH1R (T410P)	Single nucleotide variant (missense variant)	Metaphyseal chondrodysplasia, Jansen type	GPathogenic
Select item 13742	NM_000316.3(PTH1R):c.668A>G (p.His223Arg)	PTH1R (H223R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic

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Items: 79