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Gene: HPGD & Disease: DIGC, 386 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
7919	HPGD	c.175_176del	p.Leu59fs (p.L59fs)	NM_000860.6 M	MS	P	2 +	5
	HPGD	c.175_176del	p.Leu59fs (p.L59fs)	NM_001145816.3	MS	P	2 +	5
	HPGD	c.-191CT[1]	--	NM_001256301.1	MS	P	2 +	5
	HPGD	c.175_176del	p.Leu59fs (p.L59fs)	NM_001256305.2	MS	P	2 +	5
	HPGD	c.175_176del	p.Leu59fs (p.L59fs)	NM_001256306.2	MS	P	2 +	5
	HPGD	c.-84CT[1]	--	NM_001256307.2	MS	P	2 +	5
	HPGD	c.175_176del	p.Leu59fs (p.L59fs)	NM_001363574.2	MS	P	2 +	5
7920	HPGD	c.577T>C	p.Ser193Pro (p.S193P)	NM_000860.6 M	SNV	P	1 +	1
	HPGD	c.214T>C	p.Ser72Pro (p.S72P)	NM_001256301.1	SNV	P	1 +	1
	HPGD	c.373T>C	p.Ser125Pro (p.S125P)	NM_001256306.2	SNV	P	1 +	1
	HPGD	c.214T>C	p.Ser72Pro (p.S72P)	NM_001256307.2	SNV	P	1 +	1
	HPGD	c.422-1142T>C	--	NM_001256305.2	SNV	P	1 +	1
	HPGD	c.499-1142T>C	--	NM_001145816.3	SNV	P	1 +	1
901640	HPGD	c.501G>T	p.Leu167Phe (p.L167F)	NM_000860.6 M	SNV	VUS	2 +	0
348168	HPGD	c.*1726C>T	--	NM_000860.6 M	SNV	B	2 +	0
348169	HPGD	c.1725_1726delinsAT	--	NM_000860.6 M	Indel	VUS	2 +	0
348170	HPGD	c.*1725G>A	--	NM_000860.6 M	SNV	B	2 +	0
348172	HPGD	c.*1584A>G	--	NM_000860.6 M	SNV	VUS	2 +	0
348173	HPGD	c.*1556C>T	--	NM_000860.6 M	SNV	VUS	2 +	0
348174	HPGD	c.*1514A>G	--	NM_000860.6 M	SNV	LB	2 +	0

386 Results, 20 per Page

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