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Gene: INS-IGF2 & Disease: PNDM1, 22 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
21122	INS-IGF2	c.94G>A	p.Gly32Ser (p.G32S)	NM_001042376.3	SNV	P	5 +	23
13387	INS-IGF2	c.187+887G>A	--	NM_001042376.3	SNV	P	4 +	16
21117	INS-IGF2	c.187+865C>T	--	NM_001042376.3	SNV	P	4 +	8
211186	INS-IGF2	c.187+757G>A	--	NM_001042376.3	SNV	P	3 +	8
13388	INS-IGF2	c.71C>A	p.Ala24Asp (p.A24D)	NM_001042376.3	SNV	P	3 +	7
13389	INS-IGF2	c.143T>G	p.Phe48Cys (p.F48C)	NM_001042376.3	SNV	P	4 +	7
431444	INS-IGF2	c.-39A>C	--	NM_001042376.3	SNV	LB	3 +	7
626220	INS-IGF2	c.26C>G	p.Pro9Arg (p.P9R)	NM_001042376.3	SNV	LP	3 +	5
21120	INS-IGF2	c.187+923A>G	--	NM_001042376.3	SNV	VUS	2 +	5
68732	INS-IGF2	c.187+908A>G	--	NM_001042376.3	SNV	LP	2 +	5
21118	INS-IGF2	c.187+868G>T	--	NM_001042376.3	SNV	VUS	2 +	5
21114	INS-IGF2	c.127T>G	p.Cys43Gly (p.C43G)	NM_001042376.3	SNV	P	4 +	5
21115	INS-IGF2	c.140G>T	p.Gly47Val (p.G47V)	NM_001042376.3	SNV	VUS	2 +	4
65587	INS-IGF2	c.3G>A	p.Met1Ile (p.M1I)	NM_001042376.3	SNV	VUS	2 +	3
21123	INS-IGF2	c.94G>C	p.Gly32Arg (p.G32R)	NM_001042376.3	SNV	VUS	2 +	3
65581	INS-IGF2	c.187+992A>G	--	NM_001042376.3	SNV	VUS	2 +	2
65588	INS-IGF2	c.3G>T	p.Met1Ile (p.M1I)	NM_001042376.3	SNV	VUS	2 +	2
68731	INS-IGF2	c.187+902C>G	--	NM_001042376.3	SNV	VUS	2 +	2
68729	INS-IGF2	c.187+850G>A	--	NM_001042376.3	SNV	VUS	2 +	1
68733	INS-IGF2	c.85C>G	p.His29Asp (p.H29D)	NM_001042376.3	SNV	VUS	2 +	1

共22个结果, 每页展示20条

Comparison