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Gene: ASXL3 & Disease: BRPS, 211 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1696910	ASXL3	c.5467C>T	p.Arg1823Ter (p.R1823X)	NM_030632.3 M	SNV	P	1 +	4
520661	ASXL3	c.4330C>T	p.Arg1444Ter (p.R1444X)	NM_030632.3 M	SNV	P	1 +	3
68451	ASXL3	c.1210C>T	p.Gln404Ter (p.Q404X)	NM_030632.3 M	SNV	P	1 +	3
429913	ASXL3	c.3106C>T	p.Arg1036Ter (p.R1036X)	NM_030632.3 M	SNV	P	1 +	3
780477	ASXL3	c.2511C>T	p.Thr837= (p.T837=)	NM_030632.3 M	SNV	B	1 +	2
817642	ASXL3	c.4462_4465del	p.Thr1488fs (p.T1488fs)	NM_030632.3 M	Del	P	1 +	2
522818	ASXL3	c.3039+1G>A	--	NM_030632.3 M	SNV	P	1 +	2
769440	ASXL3	c.6072T>C	p.Pro2024= (p.P2024=)	NM_030632.3 M	SNV	LB	1 +	2
445897	ASXL3	c.1409A>C	p.His470Pro (p.H470P)	NM_030632.3 M	SNV	LB	1 +	2
218805	ASXL3	c.6200T>G	p.Leu2067Arg (p.L2067R)	NM_030632.3 M	SNV	LB	1 +	2
984875	ASXL3	c.3315_3318delGACA	--	NM_030632.3 M	Del	P	1 +	2
984875	ASXL3	c.3315_3318del	p.Thr1106fs (p.T1106fs)	NM_030632.3 M	Del	P	1 +	2
778150	ASXL3	c.1116C>T	p.Leu372= (p.L372=)	NM_030632.3 M	SNV	LB	1 +	2
2584673	ASXL3	c.6067C>T	p.Pro2023Ser (p.P2023S)	NM_030632.3 M	SNV	VUS	1 +	1
2504074	ASXL3	c.3076A>T	p.Lys1026Ter (p.K1026X)	NM_030632.3 M	SNV	P	1 +	1
2579692	ASXL3	c.2617_2618del	p.Glu873fs (p.E873fs)	NM_030632.3 M	Del	LP	1 +	1
2570608	ASXL3	c.1429dup	p.Ser477fs (p.S477fs)	NM_030632.3 M	Dup	P	1 +	1
1271875	ASXL3	c.3162C>T	p.Leu1054= (p.L1054=)	NM_030632.3 M	SNV	LB	1 +	1
2218052	ASXL3	c.3193C>T	p.Arg1065Trp (p.R1065W)	NM_030632.3 M	SNV	VUS	1 +	1
2439280	ASXL3	c.6366C>A	p.Phe2122Leu (p.F2122L)	NM_030632.3 M	SNV	VUS	1 +	1

211 Results, 20 per Page

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