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Gene: HMGA2 & Disease: SRS1, 10 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
253034	HMGA2	c.193C>T	p.Gln65Ter (p.Q65X)	NM_003483.6 M	SNV	P	2 +	1
253035	HMGA2	c.189del	p.Ala64fs (p.A64fs)	NM_003483.6 M	Del	P	2 +	1
253034	HMGA2	c.193C>T	p.Gln65Ter (p.Q65X)	NM_001300918.1	SNV	P	2 +	1
	HMGA2	c.193C>T	p.Gln65Ter (p.Q65X)	NM_001300919.1	SNV	P	2 +	1
	HMGA2	c.193C>T	p.Gln65Ter (p.Q65X)	NM_001330190.1	SNV	P	2 +	1
	HMGA2	c.193C>T	p.Gln65Ter (p.Q65X)	NM_003484.1	SNV	P	2 +	1
253035	HMGA2	c.189del	p.Ala64fs (p.A64fs)	NM_001300918.1	Del	P	2 +	1
	HMGA2	c.189del	p.Ala64fs (p.A64fs)	NM_001300919.1	Del	P	2 +	1
	HMGA2	c.189del	p.Ala64fs (p.A64fs)	NM_001330190.1	Del	P	2 +	1
	HMGA2	c.189del	p.Ala64fs (p.A64fs)	NM_003484.1	Del	P	2 +	1

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