Related gene-specific medical variations for Gene (Select 5745) - ClinVar

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Links from Gene

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338640	NM_000316.3(PTH1R):c.1405G>A (p.Glu469Lys)	PTH1R (E469K)	Single nucleotide variant (missense variant)	Brachydactyly type E1	GLikely pathogenic
Select item 2977950	NM_000316.3(PTH1R):c.330G>A (p.Pro110=)	LOC129936652, PTH1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2884963	NM_000316.3(PTH1R):c.329C>T (p.Pro110Leu)	LOC129936652, PTH1R (P110L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2435281	NM_000316.3(PTH1R):c.1393G>C (p.Glu465Gln)	PTH1R (E465Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2097223	NM_000316.3(PTH1R):c.380T>A (p.Val127Glu)	LOC129936652, PTH1R (V127E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1985366	NM_000316.3(PTH1R):c.354G>C (p.Trp118Cys)	LOC129936652, PTH1R (W118C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1949239	NM_000316.3(PTH1R):c.379G>A (p.Val127Met)	LOC129936652, PTH1R (V127M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1935755	NM_000316.3(PTH1R):c.389C>T (p.Pro130Leu)	LOC129936652, PTH1R (P130L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1410602	NM_000316.3(PTH1R):c.364G>A (p.Ala122Thr)	LOC129936652, PTH1R (A122T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1379239	NM_000316.3(PTH1R):c.395C>G (p.Pro132Arg)	LOC129936652, PTH1R (P132R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 993887	NM_000316.3(PTH1R):c.424+17G>A	PTH1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 811837	NM_000316.3(PTH1R):c.1320G>A (p.Gln440=)	PTH1R	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
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 345585	NM_000316.3(PTH1R):c.357G>A (p.Pro119=)	LOC129936652, PTH1R	Single nucleotide variant (synonymous variant)	not specified +3 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 64403	NM_000316.3(PTH1R):c.875T>C (p.Leu292Pro)	PTH1R (L292P)	Single nucleotide variant (missense variant)	not provided	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 64401	NM_000316.3(PTH1R):c.678G>T (p.Leu226=)	PTH1R	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 64400	NM_000316.3(PTH1R):c.526A>T (p.Asn176Tyr)	PTH1R (N176Y)	Single nucleotide variant (missense variant)	not provided	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 64397	NM_000316.3(PTH1R):c.124C>T (p.His42Tyr)	PTH1R (H42Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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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Links from Gene

Items: 24