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Gene: SIM1 & Disease: Obesity Due to Sim1 Deficiency, 140 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
254101	SIM1	c.2119G>C	p.Asp707His (p.D707H)	NM_005068.3 M	SNV	LB	3 +	4
254101	SIM1	c.2119G>C	p.Asp707His (p.D707H)	NM_001374769.1	SNV	LB	3 +	4
904718	SIM1	c.1959C>T	p.Thr653= (p.T653=)	NM_005068.3 M	SNV	B	1 +	3
729151	SIM1	c.383T>C	p.Ile128Thr (p.I128T)	NM_005068.3 M	SNV	LB	2 +	3
1699502	SIM1	c.616del	p.Gln206fs (p.Q206fs)	NM_005068.3 M	Del	P	1 +	3
904718	SIM1	c.1959C>T	p.Thr653= (p.T653=)	NM_001374769.1	SNV	B	1 +	3
729151	SIM1	c.383T>C	p.Ile128Thr (p.I128T)	NM_001374769.1	SNV	LB	2 +	3
1699502	SIM1	c.616del	p.Gln206fs (p.Q206fs)	NM_001374769.1	Del	P	1 +	3
285976	SIM1	c.1082C>T	p.Thr361Ile (p.T361I)	NM_005068.3 M	SNV	LB	1 +	2
436727	SIM1	c.624G>A	p.Val208= (p.V208=)	NM_005068.3 M	SNV	LB	1 +	2
285976	SIM1	c.1082C>T	p.Thr361Ile (p.T361I)	NM_001374769.1	SNV	LB	1 +	2
436727	SIM1	c.624G>A	p.Val208= (p.V208=)	NM_001374769.1	SNV	LB	1 +	2
904717	SIM1	c.2039C>T	p.Ser680Leu (p.S680L)	NM_005068.3 M	SNV	VUS	1 +	1
904716	SIM1	c.2108G>A	p.Arg703Gln (p.R703Q)	NM_005068.3 M	SNV	VUS	1 +	1
254102	SIM1	c.1994G>A	p.Arg665His (p.R665H)	NM_005068.3 M	SNV	LB	2 +	1
285978	SIM1	c.279C>T	p.Phe93= (p.F93=)	NM_005068.3 M	SNV	LB	1 +	1
906017	SIM1	c.1054C>T	p.Pro352Ser (p.P352S)	NM_005068.3 M	SNV	VUS	1 +	1
904717	SIM1	c.2039C>T	p.Ser680Leu (p.S680L)	NM_001374769.1	SNV	VUS	1 +	1
904716	SIM1	c.2108G>A	p.Arg703Gln (p.R703Q)	NM_001374769.1	SNV	VUS	1 +	1
254102	SIM1	c.1994G>A	p.Arg665His (p.R665H)	NM_001374769.1	SNV	LB	2 +	1

140 Results, 20 per Page

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