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Mutation Direct

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Gene: UNC13D & Disease: FHL3, 974 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
420155	UNC13D	c.2346_2349del	p.Arg782fs (p.R782fs)	NM_199242.3 M	Del	P	2 +	7
533095	UNC13D	c.118-308C>T	--	NM_199242.3 M	SNV	P	3 +	7
1705632	UNC13D	c.3049G>A	p.Glu1017Lys (p.E1017K)	NM_199242.3 M	SNV	VUS	1 +	7
1999	UNC13D	c.1389+1G>A	--	NM_199242.3 M	SNV	P	2 +	7
2001	UNC13D	c.753+1G>T	--	NM_199242.3 M	SNV	P	1 +	7
225509	UNC13D	c.2588G>A	p.Gly863Asp (p.G863D)	NM_199242.3 M	SNV	LB	2 +	6
533094	UNC13D	c.1240C>T	p.Arg414Cys (p.R414C)	NM_199242.3 M	SNV	P	3 +	6
626041	UNC13D	c.3134C>T	p.Thr1045Met (p.T1045M)	NM_199242.3 M	SNV	VUS	1 +	6
440834	UNC13D	c.2709+1G>A	--	NM_199242.3 M	SNV	P	1 +	6
889284	UNC13D	c.1241G>A	p.Arg414His (p.R414H)	NM_199242.3 M	SNV	VUS	1 +	5
1518480	UNC13D	c.2448-13G>A	--	NM_199242.3 M	SNV	P	3 +	5
1299415	UNC13D	c.118-307G>A	--	NM_199242.3 M	SNV	P	1 +	5
1299416	UNC13D	c.754-1G>C	--	NM_199242.3 M	SNV	P	1 +	5
1349251	UNC13D	c.2709+2T>A	--	NM_199242.3 M	SNV	P	1 +	5
325256	UNC13D	c.2180G>A	p.Arg727Gln (p.R727Q)	NM_199242.3 M	SNV	LB	2 +	5
1996	UNC13D	c.1828_1839del	p.Arg610_Gln613del	NM_199242.3 M	Del	P	1 +	5
2000	UNC13D	c.766C>T	p.Arg256Ter (p.R256X)	NM_199242.3 M	SNV	P	2 +	5
1400833	UNC13D	c.817C>T	p.Arg273Ter (p.R273X)	NM_199242.3 M	SNV	P	1 +	4
940988	UNC13D	c.551G>A	p.Trp184Ter (p.W184X)	NM_199242.3 M	SNV	P	1 +	4
570304	UNC13D	c.3173T>C	p.Leu1058Pro (p.L1058P)	NM_199242.3 M	SNV	LP	1 +	4

974 Results, 20 per Page

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