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Gene: NUP188 & Disease: SANDSTEF, 20 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
403263	NUP188	c.3516-14A>G	--	NM_015354.3 M	SNV	B	1 +	2
403265	NUP188	c.4044+6A>C	--	NM_015354.3 M	SNV	B	1 +	2
403266	NUP188	c.4596A>C	p.Ser1532= (p.S1532=)	NM_015354.3 M	SNV	B	1 +	2
403264	NUP188	c.3662-4A>G	--	NM_015354.3 M	SNV	B	1 +	2
2181970	NUP188	c.3377_3378del	p.Ser1126fs (p.S1126fs)	NM_015354.3 M	MS	P	1 +	2
2369550	NUP188	c.1900C>T	p.Arg634Cys (p.R634C)	NM_015354.3 M	SNV	VUS	1 +	1
816694	NUP188	c.287dup	p.Tyr96Ter (p.Y96X)	NM_015354.3 M	Dup	P	1 +	1
1172616	NUP188	c.3515+1G>A	--	NM_015354.3 M	SNV	LP	2 +	1
1172617	NUP188	c.1851_1852delinsG	p.Cys617fs (p.C617fs)	NM_015354.3 M	Indel	LP	2 +	1
2434467	NUP188	c.1355G>A	p.Arg452Gln (p.R452Q)	NM_015354.3 M	SNV	VUS	1 +	1
1327017	NUP188	c.1203+31T>C	--	NM_015354.3 M	SNV	B	1 +	1
1327018	NUP188	c.1797-24T>C	--	NM_015354.3 M	SNV	B	1 +	1
810438	NUP188	c.337C>T	p.Gln113Ter (p.Q113X)	NM_015354.3 M	SNV	P	1 +	1
918009	NUP188	c.5032dup	p.Arg1678fs (p.R1678fs)	NM_015354.3 M	Dup	P	1 +	1
918009	NUP188	c.5032dupC	--	NM_015354.3 M	Dup	P	1 +	1
918007	NUP188	c.904_907del	p.Ile302fs (p.I302fs)	NM_015354.3 M	Del	P	1 +	1
918007	NUP188	c.904_907delATTT	--	NM_015354.3 M	Del	P	1 +	1
918008	NUP188	c.3144C>G	p.Tyr1048Ter (p.Y1048X)	NM_015354.3 M	SNV	P	1 +	1
918010	NUP188	c.1890G>A	p.Trp630Ter (p.W630X)	NM_015354.3 M	SNV	P	1 +	1
918011	NUP188	c.4078C>T	p.Gln1360Ter (p.Q1360X)	NM_015354.3 M	SNV	P	1 +	1

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