ClinVar for MedGen (Select 325097) - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1669148	NM_000316.3(PTH1R):c.1117-8T>C	PTH1R	Single nucleotide variant (intron variant)	Primary failure of tooth eruption +4 more	GLikely benign
Select item 1656865	NM_000316.3(PTH1R):c.638+12G>C	PTH1R	Single nucleotide variant (intron variant)	Eiken syndrome +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)	not provided +4 more	GLikely benign
Select item 1451055	NM_000316.3(PTH1R):c.749T>C (p.Leu250Pro)	PTH1R (L250P)	Single nucleotide variant (missense variant)	Primary failure of tooth eruption +4 more	GUncertain significance
Select item 1442623	NM_000316.3(PTH1R):c.629C>T (p.Ala210Val)	PTH1R (A210V)	Single nucleotide variant (missense variant)	Chondrodysplasia Blomstrand type +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 1386566	NM_000316.3(PTH1R):c.1736A>C (p.Glu579Ala)	PTH1R (E579A)	Single nucleotide variant (missense variant)	Chondrodysplasia Blomstrand type +4 more	GUncertain significance
Select item 1371079	NM_000316.3(PTH1R):c.1198C>T (p.Arg400Trp)	PTH1R (R400W)	Single nucleotide variant (missense variant)	Primary failure of tooth eruption +4 more	GUncertain significance
Select item 1355949	NM_000316.3(PTH1R):c.1742C>G (p.Pro581Arg)	PTH1R (P581R)	Single nucleotide variant (missense variant)	Eiken syndrome +4 more	GUncertain significance
Select item 1351330	NM_000316.3(PTH1R):c.1531C>G (p.Arg511Gly)	PTH1R (R511G)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1309110	NM_000316.3(PTH1R):c.1696G>A (p.Gly566Ser)	PTH1R (G566S)	Single nucleotide variant (missense variant)	Chondrodysplasia Blomstrand type +4 more	GUncertain significance
Select item 1237944	NM_000316.3(PTH1R):c.178+28G>T	PTH1R	Single nucleotide variant (intron variant)	Metaphyseal chondrodysplasia, Jansen type +4 more	GBenign
Select item 1050981	NM_000316.3(PTH1R):c.1645G>A (p.Glu549Lys)	PTH1R (E549K)	Single nucleotide variant (missense variant)	Eiken syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1046655	NM_000316.3(PTH1R):c.543+4C>T	PTH1R	Single nucleotide variant (intron variant)	not provided +4 more	GUncertain significance
Select item 1015750	NM_000316.3(PTH1R):c.1672C>T (p.Pro558Ser)	PTH1R (P558S)	Single nucleotide variant (missense variant)	Metaphyseal chondrodysplasia, Jansen type +4 more	GUncertain significance
Select item 1014462	NM_000316.3(PTH1R):c.1112T>C (p.Ile371Thr)	PTH1R (I371T)	Single nucleotide variant (missense variant)	Metaphyseal chondrodysplasia, Jansen type +4 more	GUncertain significance
Select item 903189	NM_000316.3(PTH1R):c.1738C>T (p.Arg580Trp)	PTH1R (R580W)	Single nucleotide variant (missense variant)	Chondrodysplasia Blomstrand type +4 more	GUncertain significance
Select item 900573	NM_000316.3(PTH1R):c.691A>G (p.Met231Val)	PTH1R (M231V)	Single nucleotide variant (missense variant)	Eiken syndrome +4 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 631484	NM_000316.3(PTH1R):c.401A>C (p.Tyr134Ser)	PTH1R (Y134S)	Single nucleotide variant (missense variant)	Eiken syndrome	GUncertain significance
Select item 545721	NM_000316.3(PTH1R):c.103G>A (p.Glu35Lys)	PTH1R (E35K)	Single nucleotide variant (missense variant)	Eiken syndrome	GUncertain significance
Select item 345599	NM_000316.3(PTH1R):c.1586A>G (p.Asn529Ser)	PTH1R (N529S)	Single nucleotide variant (missense variant)	Primary failure of tooth eruption +5 more	GUncertain significance
Select item 345597	NM_000316.3(PTH1R):c.1395+15G>A	PTH1R	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 345596	NM_000316.3(PTH1R):c.1389T>C (p.Asn463=)	PTH1R	Single nucleotide variant (synonymous variant)	Eiken syndrome +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 345592	NM_000316.3(PTH1R):c.1050-3dup	PTH1R	Duplication (intron variant)	Metaphyseal chondrodysplasia +6 more	GConflicting classifications of pathogenicity
Select item 345586	NM_000316.3(PTH1R):c.375G>A (p.Glu125=)	LOC129936652, PTH1R	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 345579	NM_000316.3(PTH1R):c.216G>A (p.Ala72=)	PTH1R	Single nucleotide variant (synonymous variant)	Metaphyseal chondrodysplasia, Jansen type +4 more	GBenign/Likely benign
Select item 345577	NM_000316.3(PTH1R):c.128G>A (p.Arg43His)	PTH1R (R43H)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 345576	NM_000316.3(PTH1R):c.75+12G>A	PTH1R	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
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 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 64399	NM_000316.3(PTH1R):c.316C>T (p.Arg106Cys)	PTH1R (R106C)	Single nucleotide variant (missense variant)	Chondrodysplasia Blomstrand type +1 more	GLikely benign
Select item 13749	NM_000316.3(PTH1R):c.1453C>T (p.Arg485Ter)	PTH1R (R485*)	Single nucleotide variant (nonsense)	Eiken syndrome	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

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Items: 39