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Mutation Direct

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Gene: BCL11B & Disease: IMD49, 44 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1568539	BCL11B	c.1521C>T	p.Gly507= (p.G507=)	NM_138576.4 M	SNV	LB	2 +	2
560174	BCL11B	c.2421C>G	p.Asn807Lys (p.N807K)	NM_138576.4 M	SNV	P	2 +	2
1568539	BCL11B	c.1518C>T	p.Gly506= (p.G506=)	NM_001282237.2	SNV	LB	2 +	2
	BCL11B	c.1305C>T	p.Gly435= (p.G435=)	NM_001282238.2	SNV	LB	2 +	2
	BCL11B	c.1308C>T	p.Gly436= (p.G436=)	NM_022898.3	SNV	LB	2 +	2
560174	BCL11B	c.2418C>G	p.Asn806Lys (p.N806K)	NM_001282237.2	SNV	P	2 +	2
	BCL11B	c.2205C>G	p.Asn735Lys (p.N735K)	NM_001282238.2	SNV	P	2 +	2
	BCL11B	c.2208C>G	p.Asn736Lys (p.N736K)	NM_022898.3	SNV	P	2 +	2
1029133	BCL11B	c.296C>T	p.Pro99Leu (p.P99L)	NM_138576.4 M	SNV	VUS	1 +	1
1675189	BCL11B	c.740G>A	p.Arg247His (p.R247H)	NM_138576.4 M	SNV	VUS	1 +	1
1334063	BCL11B	c.908C>A	p.Pro303Gln (p.P303Q)	NM_138576.4 M	SNV	VUS	1 +	1
1033088	BCL11B	c.906C>A	p.His302Gln (p.H302Q)	NM_138576.4 M	SNV	VUS	1 +	1
2500080	BCL11B	c.992G>T	p.Ser331Ile (p.S331I)	NM_138576.4 M	SNV	VUS	2 +	1
1029132	BCL11B	c.1003A>G	p.Met335Val (p.M335V)	NM_138576.4 M	SNV	VUS	1 +	1
254673	BCL11B	c.1323T>G	p.Asn441Lys (p.N441K)	NM_138576.4 M	SNV	P	3 +	1
1275761	BCL11B	c.1887_1893del	p.Gly630fs (p.G630fs)	NM_138576.4 M	MS	P	1 +	1
1292051	BCL11B	c.2448_2461dup	p.Glu821fs (p.E821fs)	NM_138576.4 M	Dup	P	2 +	1
1029133	BCL11B	c.293C>T	p.Pro98Leu (p.P98L)	NM_001282237.2	SNV	VUS	1 +	1
	BCL11B	c.293C>T	p.Pro98Leu (p.P98L)	NM_001282238.2	SNV	VUS	1 +	1
	BCL11B	c.296C>T	p.Pro99Leu (p.P99L)	NM_022898.3	SNV	VUS	1 +	1

44 Results, 20 per Page

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