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Gene: ABHD12 & Disease: PHARC, 149 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
337993	ABHD12	c.769C>T	p.Arg257Trp (p.R257W)	NM_001042472.3 M	SNV	LB	1 +	2
337997	ABHD12	c.203T>C	p.Val68Ala (p.V68A)	NM_001042472.3 M	SNV	VUS	1 +	2
1057037	ABHD12	c.620G>T	p.Gly207Val (p.G207V)	NM_001042472.3 M	SNV	VUS	1 +	2
999705	ABHD12	c.967T>C	p.Cys323Arg (p.C323R)	NM_001042472.3 M	SNV	VUS	1 +	2
1032572	ABHD12	c.653G>A	p.Arg218Gln (p.R218Q)	NM_001042472.3 M	SNV	VUS	1 +	2
1032573	ABHD12	c.867+2C>T	--	NM_001042472.3 M	SNV	P	1 +	2
430695	ABHD12	c.211_223del	p.Arg71fs (p.R71fs)	NM_001042472.3 M	Del	P	1 +	2
191159	ABHD12	c.1189C>T	p.Gln397Ter (p.Q397X)	NM_001042472.3 M	SNV	LP	1 +	2
1448947	ABHD12	c.94G>T	p.Ala32Ser (p.A32S)	NM_001042472.3 M	SNV	VUS	1 +	2
128253	ABHD12	c.1045G>A	p.Ala349Thr (p.A349T)	NM_001042472.3 M	SNV	LB	1 +	2
128254	ABHD12	c.1068T>C	p.Asp356= (p.D356=)	NM_001042472.3 M	SNV	LB	1 +	2
128255	ABHD12	c.837C>T	p.Arg279= (p.R279=)	NM_001042472.3 M	SNV	LB	1 +	2
337993	ABHD12	c.769C>T	p.Arg257Trp (p.R257W)	NM_015600.5	SNV	LB	1 +	2
337997	ABHD12	c.203T>C	p.Val68Ala (p.V68A)	NM_015600.5	SNV	VUS	1 +	2
1057037	ABHD12	c.620G>T	p.Gly207Val (p.G207V)	NM_015600.5	SNV	VUS	1 +	2
999705	ABHD12	c.967T>C	p.Cys323Arg (p.C323R)	NM_015600.5	SNV	VUS	1 +	2
1032572	ABHD12	c.653G>A	p.Arg218Gln (p.R218Q)	NM_015600.5	SNV	VUS	1 +	2
1032573	ABHD12	c.867+2C>T	--	NM_015600.5	SNV	P	1 +	2
430695	ABHD12	c.211_223del	p.Arg71fs (p.R71fs)	NM_015600.5	Del	P	1 +	2
191159	ABHD12	c.1157+1366C>T	--	NM_015600.5	SNV	LP	1 +	2

149 Results, 20 per Page

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