"GeneDx"[submitter] AND "PTH1R"[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1188140	NM_000316.3(PTH1R):c.-48-287C>T	PTH1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1241576	NM_000316.3(PTH1R):c.178+182C>T	PTH1R	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246255	NM_000316.3(PTH1R):c.178+235A>C	PTH1R	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1145797	NM_000316.3(PTH1R):c.182G>A (p.Ser61Asn)	PTH1R (S61N)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 345579	NM_000316.3(PTH1R):c.216G>A (p.Ala72=)	PTH1R	Single nucleotide variant (synonymous variant)	Primary failure of tooth eruption +4 more	GBenign/Likely benign
Select item 345580	NM_000316.3(PTH1R):c.226G>C (p.Gly76Arg)	PTH1R (G76R)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1166415	NM_000316.3(PTH1R):c.313+32A>G	PTH1R	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1291689	NM_000316.3(PTH1R):c.313+331_313+334del	PTH1R	Microsatellite (intron variant)	not provided	GBenign
Select item 1281622	NM_000316.3(PTH1R):c.314-209G>A	PTH1R	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266121	NM_000316.3(PTH1R):c.314-159C>A	PTH1R	Single nucleotide variant (intron variant)	not provided	GBenign
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 2580655	NM_000316.3(PTH1R):c.502A>G (p.Ser168Gly)	PTH1R (S168G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 345589	NM_000316.3(PTH1R):c.543+14T>C	PTH1R	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1062274	NM_000316.3(PTH1R):c.649T>C (p.Cys217Arg)	PTH1R (C217R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 13742	NM_000316.3(PTH1R):c.668A>G (p.His223Arg)	PTH1R (H223R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1704718	NM_000316.3(PTH1R):c.823G>C (p.Ala275Pro)	PTH1R (A275P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1180250	NM_000316.3(PTH1R):c.988+170A>G	PTH1R	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190019	NM_000316.3(PTH1R):c.989-219G>C	PTH1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231054	NM_000316.3(PTH1R):c.1116+58T>C	PTH1R	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188736	NM_000316.3(PTH1R):c.1211+120G>A	PTH1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1275599	NM_000316.3(PTH1R):c.1212-59C>T	PTH1R	Single nucleotide variant (intron variant)	not provided	GBenign
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 1296958	NM_000316.3(PTH1R):c.1354-20C>T	PTH1R	Single nucleotide variant (intron variant)	not provided	GBenign
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 1395519	NM_000316.3(PTH1R):c.1393G>A (p.Glu465Lys)	PTH1R (E465K)	Single nucleotide variant (missense variant)	Connective tissue disorder +3 more	GConflicting classifications of pathogenicity
Select item 345597	NM_000316.3(PTH1R):c.1395+15G>A	PTH1R	Single nucleotide variant (intron variant)	Primary failure of tooth eruption +4 more	GBenign/Likely benign
Select item 1271104	NM_000316.3(PTH1R):c.1395+88T>C	PTH1R	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211578	NM_000316.3(PTH1R):c.1396-61G>A	PTH1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 345600	NM_000316.3(PTH1R):c.1636G>A (p.Glu546Lys)	PTH1R (E546K)	Single nucleotide variant (missense variant)	Connective tissue disorder +3 more	GBenign/Likely benign
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 1169929	NM_000316.3(PTH1R):c.1710C>T (p.Gly570=)	PTH1R	Single nucleotide variant (synonymous variant)	Connective tissue disorder +1 more	GConflicting classifications of pathogenicity
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 345603	NM_000316.3(PTH1R):c.*127dup	PTH1R	Duplication (3 prime UTR variant)	not provided +2 more	GBenign
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic

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Items: 35