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Gene: POMGNT1 & Disease: MDDG, 224 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
56582	POMGNT1	c.1539+1G>A	--	NM_017739.4 M	SNV	P	9 +	17
	POMGNT1	c.1539+1G>A	--	NM_001243766.2	SNV	P	9 +	17
	POMGNT1	c.1539+1G>A	--	NM_001410783.1	SNV	P	9 +	17
	POMGNT1	c.1110+1G>A	--	NM_001290130.2	SNV	P	9 +	17
	POMGNT1	c.1473+1G>A	--	NM_001290129.2	SNV	P	9 +	17
3993	POMGNT1	c.932G>A	p.Arg311Gln (p.R311Q)	NM_017739.4 M	SNV	P	7 +	11
	POMGNT1	c.932G>A	p.Arg311Gln (p.R311Q)	NM_001243766.2	SNV	P	7 +	11
	POMGNT1	c.866G>A	p.Arg289Gln (p.R289Q)	NM_001290129.2	SNV	P	7 +	11
	POMGNT1	c.503G>A	p.Arg168Gln (p.R168Q)	NM_001290130.2	SNV	P	7 +	11
56593	POMGNT1	c.1895+1G>T	--	NM_017739.4 M	SNV	P	6 +	10
	POMGNT1	c.1869+27G>T	--	NM_001243766.2	SNV	P	6 +	10
	POMGNT1	c.1895+1G>T	--	NM_001410783.1	SNV	P	6 +	10
	POMGNT1	c.1466+1G>T	--	NM_001290130.2	SNV	P	6 +	10
	POMGNT1	c.1829+1G>T	--	NM_001290129.2	SNV	P	6 +	10
4000	POMGNT1	c.1469G>A	p.Cys490Tyr (p.C490Y)	NM_017739.4 M	SNV	P	7 +	9
	POMGNT1	c.1469G>A	p.Cys490Tyr (p.C490Y)	NM_001243766.2	SNV	P	7 +	9
	POMGNT1	c.1403G>A	p.Cys468Tyr (p.C468Y)	NM_001290129.2	SNV	P	7 +	9
	POMGNT1	c.1040G>A	p.Cys347Tyr (p.C347Y)	NM_001290130.2	SNV	P	7 +	9
189099	POMGNT1	c.1011dup	p.Asp338Ter (p.D338X)	NM_017739.4 M	Dup	P	4 +	8
56578	POMGNT1	c.1285-2A>G	--	NM_017739.4 M	SNV	P	5 +	8

224 Results, 20 per Page

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