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Gene: MACF1 & Disease: LIS9, 217 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1566172	MACF1	c.17566-6A>T	--	NM_001394062.1 M	SNV	B	1 +	2
1566172	MACF1	c.11380-6A>T	--	NM_012090.5	SNV	B	1 +	2
983274	MACF1	c.188A>G	p.Asn63Ser (p.N63S)	NM_001394062.1 M	SNV	VUS	1 +	1
1333962	MACF1	c.20593C>T	p.Leu6865Phe (p.L6865F)	NM_001394062.1 M	SNV	VUS	1 +	1
586948	MACF1	c.21707G>T	p.Cys7236Phe (p.C7236F)	NM_001394062.1 M	SNV	P	2 +	1
586949	MACF1	c.21877G>T	p.Asp7293Tyr (p.D7293Y)	NM_001394062.1 M	SNV	P	1 +	1
586950	MACF1	c.21883T>G	p.Cys7295Gly (p.C7295G)	NM_001394062.1 M	SNV	P	1 +	1
586951	MACF1	c.21884G>T	p.Cys7295Phe (p.C7295F)	NM_001394062.1 M	SNV	P	1 +	1
586953	MACF1	c.20293G>C	p.Gly6765Arg (p.G6765R)	NM_001394062.1 M	SNV	P	2 +	1
1699453	MACF1	c.21803G>A	p.Arg7268His (p.R7268H)	NM_001394062.1 M	SNV	LP	1 +	1
983274	MACF1	c.299A>G	p.Asn100Ser (p.N100S)	NM_012090.5	SNV	VUS	1 +	1
1333962	MACF1	c.14416C>T	p.Leu4806Phe (p.L4806F)	NM_012090.5	SNV	VUS	1 +	1
586948	MACF1	c.15530G>T	p.Cys5177Phe (p.C5177F)	NM_012090.5	SNV	P	2 +	1
586949	MACF1	c.15682G>T	p.Asp5228Tyr (p.D5228Y)	NM_012090.5	SNV	P	1 +	1
586950	MACF1	c.15688T>G	p.Cys5230Gly (p.C5230G)	NM_012090.5	SNV	P	1 +	1
586951	MACF1	c.15689G>T	p.Cys5230Phe (p.C5230F)	NM_012090.5	SNV	P	1 +	1
586953	MACF1	c.14116G>C	p.Gly4706Arg (p.G4706R)	NM_012090.5	SNV	P	2 +	1
1699453	MACF1	c.9863G>A	p.Arg3288His (p.R3288H)	NM_001397473.1	SNV	LP	1 +	1
1699453	MACF1	c.15608G>A	p.Arg5203His (p.R5203H)	NM_012090.5	SNV	LP	1 +	1
1030222	MACF1	c.18544C>T	p.Pro6182Ser (p.P6182S)	NM_001394062.1 M	SNV	VUS	1 +	0

217 Results, 20 per Page

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