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Gene: GATM & Disease: Fanconi Syndrome, 99 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
129138	GATM	c.330A>T	p.Gln110His (p.Q110H)	NM_001482.3 M	SNV	LB	3 +	3
55919	GATM	c.505C>T	p.Arg169Ter (p.R169X)	NM_001482.3 M	SNV	P	3 +	3
129137	GATM	c.1252T>C	p.Leu418= (p.L418=)	NM_001482.3 M	SNV	LB	3 +	3
129138	GATM	c.-58A>T	--	NM_001321015.2	SNV	LB	3 +	3
55919	GATM	c.118C>T	p.Arg40Ter (p.R40X)	NM_001321015.2	SNV	P	3 +	3
129137	GATM	c.865T>C	p.Leu289= (p.L289=)	NM_001321015.2	SNV	LB	3 +	3
1084515	GATM	c.9G>A	p.Arg3= (p.R3=)	NM_001482.3 M	SNV	LB	3 +	2
137453	GATM	c.48G>T	p.Ala16= (p.A16=)	NM_001482.3 M	SNV	LB	3 +	2
1320890	GATM	c.76C>G	p.Arg26Gly (p.R26G)	NM_001482.3 M	SNV	VUS	3 +	2
1461940	GATM	c.88G>A	p.Gly30Arg (p.G30R)	NM_001482.3 M	SNV	VUS	3 +	2
1435102	GATM	c.104C>A	p.Thr35Asn (p.T35N)	NM_001482.3 M	SNV	VUS	3 +	2
511581	GATM	c.138C>T	p.Ser46= (p.S46=)	NM_001482.3 M	SNV	LB	3 +	2
423739	GATM	c.160G>A	p.Asp54Asn (p.D54N)	NM_001482.3 M	SNV	VUS	3 +	2
205611	GATM	c.279C>G	p.Ile93Met (p.I93M)	NM_001482.3 M	SNV	VUS	3 +	2
1564138	GATM	c.294C>T	p.Asn98= (p.N98=)	NM_001482.3 M	SNV	LB	3 +	2
859203	GATM	c.338A>G	p.His113Arg (p.H113R)	NM_001482.3 M	SNV	VUS	3 +	2
385070	GATM	c.484+19C>T	--	NM_001482.3 M	SNV	LB	3 +	2
888467	GATM	c.494G>A	p.Ser165Asn (p.S165N)	NM_001482.3 M	SNV	VUS	3 +	2
1120691	GATM	c.540C>T	p.Ile180= (p.I180=)	NM_001482.3 M	SNV	LB	3 +	2
795290	GATM	c.576G>A	p.Glu192= (p.E192=)	NM_001482.3 M	SNV	LB	3 +	2

99 Results, 20 per Page

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