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Gene: DYSF & Disease: Dysferlinopathy, 34835 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
94344	DYSF	c.5815_5816del	p.Ser1939fs (p.S1939fs)	NM_001130987.2 M	MS	P	3 +	17
	DYSF	c.5698_5699delAG	--	NM_003494.4 MP	MS	P	3 +	17
	DYSF	c.5698_5699del	p.Ser1900fs (p.S1900fs)	NM_003494.4 MP	MS	P	3 +	17
	DYSF	c.5701_5702del	p.Ser1901fs (p.S1901fs)	NM_001130455.2	MS	P	3 +	17
	DYSF	c.5656_5657del	p.Ser1886fs (p.S1886fs)	NM_001130976.2	MS	P	3 +	17
	DYSF	c.5719_5720del	p.Ser1907fs (p.S1907fs)	NM_001130977.2	MS	P	3 +	17
	DYSF	c.5761_5762del	p.Ser1921fs (p.S1921fs)	NM_001130978.2	MS	P	3 +	17
	DYSF	c.5791_5792del	p.Ser1931fs (p.S1931fs)	NM_001130979.2	MS	P	3 +	17
	DYSF	c.5749_5750del	p.Ser1917fs (p.S1917fs)	NM_001130980.2	MS	P	3 +	17
	DYSF	c.5812_5813del	p.Ser1938fs (p.S1938fs)	NM_001130981.2	MS	P	3 +	17
	DYSF	c.5794_5795del	p.Ser1932fs (p.S1932fs)	NM_001130982.2	MS	P	3 +	17
	DYSF	c.5764_5765del	p.Ser1922fs (p.S1922fs)	NM_001130983.2	MS	P	3 +	17
	DYSF	c.5722_5723del	p.Ser1908fs (p.S1908fs)	NM_001130984.2	MS	P	3 +	17
	DYSF	c.5752_5753del	p.Ser1918fs (p.S1918fs)	NM_001130985.2	MS	P	3 +	17
	DYSF	c.5659_5660del	p.Ser1887fs (p.S1887fs)	NM_001130986.2	MS	P	3 +	17
94291	DYSF	c.2697+1G>A	--	NM_001130987.2 M	SNV	P	5 +	15
94278	DYSF	c.1717C>T	p.Arg573Trp (p.R573W)	NM_001130987.2 M	SNV	P	3 +	15
6668	DYSF	c.6241C>T	p.Arg2081Cys (p.R2081C)	NM_001130987.2 M	SNV	P	4 +	15
286151	DYSF	c.5419C>T	p.Arg1807Trp (p.R1807W)	NM_001130987.2 M	SNV	P	4 +	15
94291	DYSF	c.2643+1G>A	--	NM_003494.4 MP	SNV	P	5 +	15

34835 Results, 20 per Page

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