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Gene: CHST6 & Disease: MCD, 241 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
5075	CHST6	c.599T>G	p.Leu200Arg (p.L200R)	NM_021615.5 M	SNV	P	1 +	11
886987	CHST6	c.484C>A	p.Arg162= (p.R162=)	NM_021615.5 M	SNV	VUS	1 +	5
2114380	CHST6	c.601_621del	p.Val201_Val207del	NM_021615.5 M	Del	P	1 +	4
1300206	CHST6	c.997T>C	p.Trp333Arg (p.W333R)	NM_021615.5 M	SNV	P	1 +	3
5071	CHST6	c.521A>G	p.Lys174Arg (p.K174R)	NM_021615.5 M	SNV	P	1 +	3
631759	CHST6	c.196G>C	p.Val66Leu (p.V66L)	NM_021615.5 M	SNV	VUS	1 +	3
2581187	CHST6	c.418C>T	p.Arg140Ter (p.R140X)	NM_021615.5 M	SNV	P	1 +	3
1002002	CHST6	c.500C>T	p.Ser167Phe (p.S167F)	NM_021615.5 M	SNV	VUS	1 +	2
320602	CHST6	c.1082T>C	p.Val361Ala (p.V361A)	NM_021615.5 M	SNV	VUS	1 +	2
320606	CHST6	c.892C>T	p.Gln298Ter (p.Q298X)	NM_021615.5 M	SNV	P	1 +	2
1044629	CHST6	c.1043T>G	p.Leu348Arg (p.L348R)	NM_021615.5 M	SNV	VUS	1 +	2
1300205	CHST6	c.847_848delGAinsTG	--	NM_021615.5 M	Indel	P	1 +	2
1300205	CHST6	c.847_848delinsTG	p.Glu283Ter (p.E283X)	NM_021615.5 M	Indel	P	1 +	2
631760	CHST6	c.6G>A	p.Trp2Ter (p.W2X)	NM_021615.5 M	SNV	VUS	1 +	2
1058782	CHST6	c.518T>C	p.Leu173Pro (p.L173P)	NM_021615.5 M	SNV	VUS	1 +	2
2577141	CHST6	c.379C>T	p.Arg127Cys (p.R127C)	NM_021615.5 M	SNV	P	1 +	2
2506044	CHST6	c.573dup	p.Ala192fs (p.A192fs)	NM_021615.5 M	Dup	P	1 +	2
1464323	CHST6	c.355G>C	p.Asp119His (p.D119H)	NM_021615.5 M	SNV	VUS	1 +	1
1061897	CHST6	c.944G>A	p.Arg315His (p.R315H)	NM_021615.5 M	SNV	VUS	1 +	1
938507	CHST6	c.1096G>A	p.Glu366Lys (p.E366K)	NM_021615.5 M	SNV	VUS	1 +	1

241 Results, 20 per Page

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