Full data view for gene EIF2B2

Information The variants shown are described using the NM_014239.3 transcript reference sequence.

23 entries on 1 page. Showing entries 1 - 23.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.5C>T r.(?) p.(Pro2Leu) Unknown - VUS g.75469698C>T - EIF2B2(NM_014239.3):c.5C>T (p.P2L) - EIF2B2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.115C>T r.(?) p.(Leu39=) Unknown - likely benign g.75469808C>T g.75003105C>T EIF2B2(NM_014239.3):c.115C>T (p.L39=) - EIF2B2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.254T>A r.(?) p.(Val85Glu) Unknown - pathogenic g.75470068T>A g.75003365T>A - - EIF2B2_000002 submitted through SIB; ExPASy_068451 PubMed: Matsukawa et al (2011) - - Germline - - - 0 - DNA SEQ - - VWM - PubMed: 21484434 abstract - - - - - - 0 - - 1 SIB - Livia Famiglietti
-?/. - c.380C>T r.(?) p.(Ala127Val) Unknown - likely benign g.75470349C>T g.75003646C>T EIF2B2(NM_014239.3):c.380C>T (p.A127V) - EIF2B2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.397A>T r.(?) p.(Ile133Phe) Unknown - VUS g.75470366A>T g.75003663A>T - - EIF2B2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 3i c.433+2T>G r.spl p.? Unknown - likely pathogenic g.75470404T>G g.75003701T>G - - EIF2B2_000024 no variant 2nd chromosome PubMed: Ganapathy 2019 - - Germline - - - 0 - DNA SEQ-NG - TruSight One panel ? S-2179 PubMed: Ganapathy 2019 - - - India - - 0 - - 1 Johan den Dunnen
+/. - c.512C>T r.(?) p.(Ser171Phe) Unknown - pathogenic g.75471518C>T g.75004815C>T - - EIF2B2_000005 submitted through SIB; ExPASy_016842 PubMed: Ohlenbusch et al (2005) - - Germline - - - 0 - DNA SEQ - - VWM - PubMed: 15776425 abstract - - - - - - 0 - - 1 SIB - Livia Famiglietti
+?/. - c.514C>T r.(?) p.(Arg172Ter) Unknown - likely pathogenic g.75471520C>T - - - EIF2B2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.586C>T r.(?) p.(Pro196Ser) Unknown - pathogenic g.75471592C>T g.75004889C>T - - EIF2B2_000004 submitted through SIB; ExPASy_068452 PubMed: Ohlenbusch et al (2005) - - Germline - - - 0 - DNA SEQ - - VWM - PubMed: 15776425 abstract - - - - - - 0 - - 1 SIB - Livia Famiglietti
+?/. - c.586C>T r.(?) p.(Pro196Ser) Unknown - likely pathogenic g.75471592C>T - - - EIF2B2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.599G>T r.(?) p.(Gly200Val) Unknown - pathogenic g.75472570G>T g.75005867G>T - - EIF2B2_000006 - PubMed: Berko 2017, Journal: Berko 2017 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - NDHSAL - PubMed: Berko 2017, Journal: Berko 2017 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - 0 - - 1 Johan den Dunnen
+/. - c.599G>T r.(?) p.(Gly200Val) Unknown - pathogenic g.75472570G>T g.75005867G>T EIF2B2(NM_014239.3):c.599G>T (p.G200V) - EIF2B2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.599G>T r.(?) p.(Gly200Val) Unknown - pathogenic g.75472570G>T g.75005867G>T - - EIF2B2_000006 submitted through SIB; ExPASy_068453 PubMed: Ohlenbusch et al (2005) - - Germline - - - 0 - DNA SEQ - - VWM - PubMed: 15776425 abstract - - - - - - 0 - - 1 SIB - Livia Famiglietti
+?/. - c.599G>T r.(?) p.(Gly200Val) Unknown - likely pathogenic g.75472570G>T - EIF2B2(NM_014239.3):c.599G>T (p.G200V) - EIF2B2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.634A>G r.(?) p.(Ile212Val) Unknown - VUS g.75472605A>G g.75005902A>G - - EIF2B2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+? - c.638A>G r.(?) p.(Glu213Gly) Unknown - pathogenic g.75472609A>G g.75005906A>G - - EIF2B2_000003 submitted through SIB; ExPASy_012289 PubMed: Sambati et al (2013) - - Germline - - - 0 - DNA SEQ - - VWM - PubMed: 22729508 abstract - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/+? - c.638A>G r.(?) p.(Glu213Gly) Unknown - pathogenic g.75472609A>G g.75005906A>G - - EIF2B2_000003 submitted through SIB; ExPASy_012289 PubMed: Fogli et al (2003) - - Germline - - - 0 - DNA SEQ - - VWM - PubMed: 12707859 abstract - - - - - - 0 - - 1 SIB - Livia Famiglietti
?/. - c.754C>T r.(?) p.(His252Tyr) Unknown - VUS g.75473340C>T g.75006637C>T EIF2B2(NM_014239.3):c.754C>T (p.H252Y) - EIF2B2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.803G>A r.(?) p.(Cys268Tyr) Unknown - pathogenic g.75473389G>A g.75006686G>A - - EIF2B2_000001 submitted through SIB; ExPASy_068454 PubMed: Alsalem et al (2012) - - Germline - - - 0 - DNA SEQ - - VWM - PubMed: 22285377 abstract - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/. - c.818A>G r.(?) p.(Lys273Arg) Unknown - pathogenic g.75473404A>G g.75006701A>G - - EIF2B2_000007 submitted through SIB; ExPASy_012321 PubMed: Leegwater et al (2001) - - Germline - - - 0 - DNA SEQ - - VWM - PubMed: 11704758 abstract - - - - - - 0 - - 1 SIB - Livia Famiglietti
?/. - c.826C>T r.(?) p.(Pro276Ser) Unknown - VUS g.75473412C>T g.75006709C>T EIF2B2(NM_014239.4):c.826C>T (p.P276S) - EIF2B2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.947T>A r.(?) p.(Val316Asp) Unknown - pathogenic g.75475782T>A g.75009079T>A - - EIF2B2_000008 submitted through SIB; ExPASy_012290 PubMed: Leegwater et al (2001) - - Germline - - - 0 - DNA SEQ - - VWM - PubMed: 11704758 abstract - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/. - c.986G>T r.(?) p.(Gly329Val) Unknown - pathogenic g.75475821G>T g.75009118G>T - - EIF2B2_000009 submitted through SIB; ExPASy_012322 PubMed: Leegwater et al (2001) - - Germline - - - 0 - DNA SEQ - - VWM - PubMed: 11704758 abstract - - - - - - 0 - - 1 SIB - Livia Famiglietti
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