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Gene: GCSH & Disease: GCE1, 71 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1164317	GCSH	c.62C>T	p.Ser21Leu (p.S21L)	NM_004483.5 M	SNV	B	2 +	2
462904	GCSH	c.292+9T>G	--	NM_004483.5 M	SNV	LB	2 +	2
462908	GCSH	c.53C>T	p.Ala18Val (p.A18V)	NM_004483.5 M	SNV	B	2 +	2
235601	GCSH	c.293-16dup	--	NM_004483.5 M	Dup	B	2 +	2
850537	GCSH	c.149-3T>C	--	NM_004483.5 M	SNV	VUS	2 +	2
1367392	GCSH	c.364G>A	p.Glu122Lys (p.E122K)	NM_004483.5 M	SNV	VUS	2 +	2
862110	GCSH	c.49C>T	p.Arg17Cys (p.R17C)	NM_004483.5 M	SNV	VUS	2 +	2
265683	GCSH	c.226C>T	p.Gln76Ter (p.Q76X)	NM_004483.5 M	SNV	P	3 +	2
265685	GCSH	c.1A>G	p.Met1Val (p.M1V)	NM_004483.5 M	SNV	P	3 +	2
654342	GCSH	c.22A>G	p.Ser8Gly (p.S8G)	NM_004483.5 M	SNV	VUS	2 +	1
854548	GCSH	c.20G>A	p.Arg7Gln (p.R7Q)	NM_004483.5 M	SNV	VUS	2 +	1
1044507	GCSH	c.1A>T	p.Met1Leu (p.M1L)	NM_004483.5 M	SNV	VUS	2 +	1
695849	GCSH	c.33C>T	p.Ala11= (p.A11=)	NM_004483.5 M	SNV	LB	2 +	1
1403947	GCSH	c.514G>A	p.Glu172Lys (p.E172K)	NM_004483.5 M	SNV	VUS	2 +	1
1438257	GCSH	c.505A>C	p.Lys169Gln (p.K169Q)	NM_004483.5 M	SNV	VUS	2 +	1
1045554	GCSH	c.73C>T	p.Pro25Ser (p.P25S)	NM_004483.5 M	SNV	VUS	2 +	1
575539	GCSH	c.329G>A	p.Ser110Asn (p.S110N)	NM_004483.5 M	SNV	VUS	2 +	1
462901	GCSH	c.218A>G	p.Asn73Ser (p.N73S)	NM_004483.5 M	SNV	B	2 +	1
462902	GCSH	c.252T>C	p.Tyr84= (p.Y84=)	NM_004483.5 M	SNV	B	2 +	1
462903	GCSH	c.261C>G	p.Leu87= (p.L87=)	NM_004483.5 M	SNV	B	2 +	1

71 Results, 20 per Page

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