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Gene: GFI1 & Disease: NI-CINA, 36 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
8740	GFI1	c.1208A>G	p.Lys403Arg (p.K403R)	NM_005263.5 M	SNV	P	2 +	2
1170883	GFI1	c.925-10_925-5dup	--	NM_005263.5 M	MS	LB	2 +	2
1170883	GFI1	c.925-40CT[21]	--	NM_005263.5 M	MS	LB	2 +	2
8740	GFI1	c.1208A>G	p.Lys403Arg (p.K403R)	NM_001127215.3	SNV	P	2 +	2
8740	GFI1	c.1208A>G	p.Lys403Arg (p.K403R)	NM_001127216.3	SNV	P	2 +	2
1170883	GFI1	c.925-40CT[21]	--	NM_001127216.3	MS	LB	2 +	2
1170883	GFI1	c.925-40CT[21]	--	NM_001127215.3	MS	LB	2 +	2
298184	GFI1	c.925-40CT[16]	--	NM_005263.5 M	MS	LB	3 +	0
298188	GFI1	c.792C>T	p.Phe264= (p.F264=)	NM_005263.5 M	SNV	LB	2 +	0
298185	GFI1	c.925-40CT[15]	--	NM_005263.5 M	MS	LB	3 +	0
298185	GFI1	c.925-10_925-5del	--	NM_005263.5 M	MS	LB	3 +	0
1030899	GFI1	c.577G>T	p.Ala193Ser (p.A193S)	NM_005263.5 M	SNV	VUS	2 +	0
951085	GFI1	c.391G>A	p.Asp131Asn (p.D131N)	NM_005263.5 M	SNV	VUS	2 +	0
636791	GFI1	c.733T>C	p.Cys245Arg (p.C245R)	NM_005263.5 M	SNV	VUS	2 +	0
1517491	GFI1	c.233G>C	p.Ser78Thr (p.S78T)	NM_005263.5 M	SNV	LB	2 +	0
402897	GFI1	c.925-6_925-5dup	--	NM_005263.5 M	MS	LB	2 +	0
402897	GFI1	c.925-40CT[19]	--	NM_005263.5 M	MS	LB	2 +	0
1163738	GFI1	c.541G>A	p.Ala181Thr (p.A181T)	NM_005263.5 M	SNV	VUS	2 +	0
298184	GFI1	c.925-40CT[16]	--	NM_001127216.3	MS	LB	3 +	0
298184	GFI1	c.925-40CT[16]	--	NM_001127215.3	MS	LB	3 +	0

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