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Gene: PTH1R & Disease: MCDJ, 152 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
13742	PTH1R	c.668A>G	p.His223Arg (p.H223R)	NM_000316.3 M	SNV	P	2 +	4
13742	PTH1R	c.668A>G	p.His223Arg (p.H223R)	NM_001184744.1	SNV	P	2 +	4
1046655	PTH1R	c.543+4C>T	--	NM_000316.3 M	SNV	VUS	4 +	2
345582	PTH1R	c.313+4C>T	--	NM_000316.3 M	SNV	LB	2 +	2
1046655	PTH1R	c.543+4C>T	--	NM_001184744.1	SNV	VUS	4 +	2
345582	PTH1R	c.313+4C>T	--	NM_001184744.1	SNV	LB	2 +	2
345581	PTH1R	c.299G>A	p.Gly100Asp (p.G100D)	NM_000316.3 M	SNV	LB	3 +	1
1386566	PTH1R	c.1736A>C	p.Glu579Ala (p.E579A)	NM_000316.3 M	SNV	VUS	4 +	1
13747	PTH1R	c.1373T>G	p.Ile458Arg (p.I458R)	NM_000316.3 M	SNV	P	1 +	1
13748	PTH1R	c.1229C>G	p.Thr410Arg (p.T410R)	NM_000316.3 M	SNV	P	1 +	1
13743	PTH1R	c.1228A>C	p.Thr410Pro (p.T410P)	NM_000316.3 M	SNV	P	1 +	1
1442623	PTH1R	c.629C>T	p.Ala210Val (p.A210V)	NM_000316.3 M	SNV	VUS	4 +	1
13745	PTH1R	c.395C>T	p.Pro132Leu (p.P132L)	NM_000316.3 M	SNV	P	4 +	1
345581	PTH1R	c.299G>A	p.Gly100Asp (p.G100D)	NM_001184744.1	SNV	LB	3 +	1
1386566	PTH1R	c.1736A>C	p.Glu579Ala (p.E579A)	NM_001184744.1	SNV	VUS	4 +	1
13747	PTH1R	c.1373T>G	p.Ile458Arg (p.I458R)	NM_001184744.1	SNV	P	1 +	1
13748	PTH1R	c.1229C>G	p.Thr410Arg (p.T410R)	NM_001184744.1	SNV	P	1 +	1
13743	PTH1R	c.1228A>C	p.Thr410Pro (p.T410P)	NM_001184744.1	SNV	P	1 +	1
1442623	PTH1R	c.629C>T	p.Ala210Val (p.A210V)	NM_001184744.1	SNV	VUS	4 +	1
13745	PTH1R	c.395C>T	p.Pro132Leu (p.P132L)	NM_001184744.1	SNV	P	4 +	1

152 Results, 20 per Page

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