Full data view for gene ELN

Information The variants shown are described using the NM_000501.2 transcript reference sequence.

286 entries on 3 pages. Showing entries 1 - 100.
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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     
+/. _1_33_ c.-91_*1207{0} r.0 p.0 Unknown - likely pathogenic (dominant) g.(?_72657228)_(74160300_?)del - - seq[hg19]del(7)(q11.23)chr7:g.72657228_74,160300del ELN_000175 - PubMed: Froukh 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD TF033 PubMed: Froukh 2020 analysis 103 families with neurodevelopmental disorders - - Jordan - - - - - 1 Johan den Dunnen
+/. _1_33_ c.0 r.0 p.0 Unknown - pathogenic g.(?_73428837)_(73643684_?)del - g.73428837_73643684del - ELN_000000 - - - - De novo - - - - - DNA FISH - - WBS - - 47,XXY diagnosed in antenatal M no France - - - - - 1 Le Gall
+?/. 1 c.8del r.(?) p.(Gly3Valfs*2) Unknown - likely pathogenic g.73442525del g.74028195del 8delG - ELN_000004 - PubMed: El Malti 2016, Journal: El Malti 2016 - - Germline yes 1/156 patients - - - DNA SEQ blood - CHD MC132 PubMed: El Malti 2016, Journal: El Malti 2016 - F no France European >42y - yes - 1 Patrice Bouvagnet
-?/. - c.20C>T r.(?) p.(Ala7Val) Unknown - likely benign g.73442537C>T g.74028207C>T ELN(NM_001278939.1):c.20C>T (p.A7V) - ELN_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.21G>A r.(?) p.(Ala7=) Unknown - likely benign g.73442538G>A g.74028208G>A - - ELN_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.26_33del r.(?) p.(Pro9Argfs*53) Unknown - pathogenic g.73442543_73442550del - ELN(NM_000501.4):c.26_33delCGCGGCCC (p.P9Rfs*53) - ELN_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.34G>A r.(?) p.(Gly12Arg) Unknown - likely benign g.73442551G>A - ELN(NM_000501.4):c.34G>A (p.(Gly12Arg)) - ELN_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.34G>T r.(?) p.(Gly12*) Unknown - likely pathogenic g.73442551G>T g.74028221G>T - - ELN_000003 - PubMed: El Malti 2016, Journal: El Malti 2016 - - Germline yes 1/156 patients - - - DNA SEQ blood - CHD MC176 PubMed: El Malti 2016, Journal: El Malti 2016 - F no Portugal European >41y - yes - 1 Patrice Bouvagnet
+?/. - c.82+1G>A r.spl? p.? Unknown - likely pathogenic g.73442600G>A g.74028270G>A ELN(NM_001278939.1):c.82+1G>A (p.?) - ELN_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.83-105A>C r.(=) p.(=) Unknown - likely benign g.73449589A>C - ELN(NM_000501.4):c.83-105A>C - ELN_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.97A>G r.(?) p.(Ile33Val) Unknown - VUS g.73449708A>G g.74035378A>G ELN(NM_000501.2):c.97A>G (p.(Ile33Val)) - ELN_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.133+6G>A r.(=) p.(=) Unknown - likely benign g.73449750G>A g.74035420G>A ELN(NM_000501.4):c.133+6G>A - ELN_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.133+7T>G r.(=) p.(=) Unknown - likely benign g.73449751T>G g.74035421T>G ELN(NM_001278939.1):c.133+7T>G - ELN_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.133+16C>A r.(=) p.(=) Unknown - likely benign g.73449760C>A g.74035430C>A ELN(NM_000501.3):c.133+16C>A, ELN(NM_000501.4):c.133+16C>A, ELN(NM_001278939.1):c.133+16C>A - ELN_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.133+16C>A r.(=) p.(=) Unknown - benign g.73449760C>A g.74035430C>A ELN(NM_000501.3):c.133+16C>A, ELN(NM_000501.4):c.133+16C>A, ELN(NM_001278939.1):c.133+16C>A - ELN_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.133+16C>A r.(=) p.(=) Unknown - likely benign g.73449760C>A - ELN(NM_000501.3):c.133+16C>A, ELN(NM_000501.4):c.133+16C>A, ELN(NM_001278939.1):c.133+16C>A - ELN_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.134-7C>A r.(=) p.(=) Unknown - likely benign g.73450878C>A g.74036548C>A ELN(NM_000501.3):c.134-7C>A, ELN(NM_000501.4):c.134-7C>A, ELN(NM_001278939.1):c.134-7C>A - ELN_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.134-7C>A r.(=) p.(=) Unknown - likely benign g.73450878C>A g.74036548C>A ELN(NM_000501.3):c.134-7C>A, ELN(NM_000501.4):c.134-7C>A, ELN(NM_001278939.1):c.134-7C>A - ELN_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.134-7C>A r.(=) p.(=) Unknown - likely benign g.73450878C>A - ELN(NM_000501.3):c.134-7C>A, ELN(NM_000501.4):c.134-7C>A, ELN(NM_001278939.1):c.134-7C>A - ELN_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.134-7C>A r.(=) p.(=) Unknown - likely benign g.73450878C>A - ELN(NM_000501.3):c.134-7C>A, ELN(NM_000501.4):c.134-7C>A, ELN(NM_001278939.1):c.134-7C>A - ELN_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.134-6C>A r.(=) p.(=) Unknown - likely benign g.73450879C>A - ELN(NM_001278939.1):c.134-6C>A - ELN_000213 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.134-5C>A r.spl? p.? Unknown - benign g.73450880C>A g.74036550C>A ELN(NM_000501.3):c.134-5C>A, ELN(NM_001278939.1):c.134-5C>A - ELN_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.134-5C>A r.spl? p.? Unknown - likely benign g.73450880C>A g.74036550C>A ELN(NM_000501.3):c.134-5C>A, ELN(NM_001278939.1):c.134-5C>A - ELN_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.134-5C>T r.spl? p.? Unknown - likely benign g.73450880C>T - ELN(NM_001278939.1):c.134-5C>T - ELN_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.145G>A r.(?) p.(Gly49Arg) Unknown - VUS g.73450896G>A g.74036566G>A ELN(NM_001278939.1):c.145G>A (p.G49R), ELN(NM_001278939.2):c.145G>A (p.G49R) - ELN_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.145G>A r.(?) p.(Gly49Arg) Unknown - VUS g.73450896G>A - ELN(NM_001278939.1):c.145G>A (p.G49R), ELN(NM_001278939.2):c.145G>A (p.G49R) - ELN_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.159A>T r.(?) p.(Gly53=) Unknown - likely benign g.73450910A>T - ELN(NM_001278939.1):c.159A>T (p.G53=) - ELN_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.160G>T r.(?) p.(Gly54*) Unknown - pathogenic (dominant) g.73450911G>T g.74036581G>T - - ELN_000134 - Yanagisawa 2019, submitted - - Germline yes - - - - DNA SEQ - - SVAS - - - F no Japan - - - - - 3 Hiromi Yanagisawa
?/. - c.164C>A r.(?) p.(Ala55Glu) Unknown - VUS g.73452037C>A - ELN(NM_001278939.1):c.164C>A (p.A55E) - ELN_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.175G>A r.(?) p.(Gly59Arg) Unknown - VUS g.73452048G>A - NM_001278939:c.G175A (G59R) - ELN_000186 - PubMed: Hamdan 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS DEE HSC0037 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures 1 Johan den Dunnen
-?/. - c.196+13G>C r.(=) p.(=) Unknown - likely benign g.73452082G>C g.74037752G>C ELN(NM_000501.4):c.196+13G>C - ELN_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.197-174A>G r.(=) p.(=) Unknown - likely benign g.73455372A>G g.74041042A>G ELN(NM_000501.4):c.197-174A>G - ELN_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.197-9T>C r.(=) p.(=) Unknown - likely benign g.73455537T>C g.74041207T>C ELN(NM_001278939.1):c.197-9T>C - ELN_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.212C>T r.(?) p.(Ala71Val) Unknown - likely benign g.73455561C>T g.74041231C>T ELN(NM_000501.4):c.212C>T (p.A71V), ELN(NM_001278939.1):c.212C>T (p.A71V) - ELN_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.212C>T r.(?) p.(Ala71Val) Unknown - benign g.73455561C>T g.74041231C>T ELN(NM_000501.4):c.212C>T (p.A71V), ELN(NM_001278939.1):c.212C>T (p.A71V) - ELN_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.232+3G>A r.spl? p.? Unknown - benign g.73455584G>A g.74041254G>A ELN(NM_000501.4):c.232+3G>A, ELN(NM_001278939.1):c.232+3G>A - ELN_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.232+3G>A r.spl? p.? Unknown - likely benign g.73455584G>A g.74041254G>A ELN(NM_000501.4):c.232+3G>A, ELN(NM_001278939.1):c.232+3G>A - ELN_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.232+3G>A r.spl? p.? Unknown - likely benign g.73455584G>A g.74041254G>A ELN(NM_000501.4):c.232+3G>A, ELN(NM_001278939.1):c.232+3G>A - ELN_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.232+77C>T r.(=) p.(=) Unknown - benign g.73455658C>T g.74041328C>T ELN(NM_001278939.1):c.232+77C>T - ELN_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.233-8C>T r.(=) p.(=) Unknown - likely benign g.73456936C>T - ELN(NM_001278939.1):c.233-8C>T - ELN_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.233-4G>A r.spl? p.? Unknown - likely benign g.73456940G>A g.74042610G>A ELN(NM_001278939.1):c.233-4G>A - ELN_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.264G>A r.(?) p.(Pro88=) Unknown - likely benign g.73456975G>A g.74042645G>A - - ELN_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.325+5G>C r.(?) p.(?) Unknown - likely pathogenic g.73457041G>C - - - ELN_000189 - - - rs1791519372 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.326-1G>A r.spl? p.? Unknown - VUS g.73457313G>A - ELN(NM_000501.4):c.326-1G>A - ELN_000206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.326G>A r.(?) p.(Gly109Asp) Unknown - VUS g.73457314G>A g.74042984G>A ELN(NM_000501.3):c.326G>A (p.G109D), ELN(NM_000501.4):c.326G>A (p.(Gly109Asp)), ELN(NM_001278939.1):c.326G>A (p.G109D), ELN(NM_001278939.2):c.326G>... - ELN_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.326G>A r.(?) p.(Gly109Asp) Unknown - likely benign g.73457314G>A g.74042984G>A ELN(NM_000501.3):c.326G>A (p.G109D), ELN(NM_000501.4):c.326G>A (p.(Gly109Asp)), ELN(NM_001278939.1):c.326G>A (p.G109D), ELN(NM_001278939.2):c.326G>... - ELN_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.326G>A r.(?) p.(Gly109Asp) Unknown - VUS g.73457314G>A - ELN(NM_000501.3):c.326G>A (p.G109D), ELN(NM_000501.4):c.326G>A (p.(Gly109Asp)), ELN(NM_001278939.1):c.326G>A (p.G109D), ELN(NM_001278939.2):c.326G>... - ELN_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.326G>A r.(?) p.(Gly109Asp) Unknown - likely benign g.73457314G>A - ELN(NM_000501.3):c.326G>A (p.G109D), ELN(NM_000501.4):c.326G>A (p.(Gly109Asp)), ELN(NM_001278939.1):c.326G>A (p.G109D), ELN(NM_001278939.2):c.326G>... - ELN_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.326G>A r.(?) p.(Gly109Asp) Unknown - likely benign g.73457314G>A - ELN(NM_000501.3):c.326G>A (p.G109D), ELN(NM_000501.4):c.326G>A (p.(Gly109Asp)), ELN(NM_001278939.1):c.326G>A (p.G109D), ELN(NM_001278939.2):c.326G>... - ELN_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.328G>A r.(?) p.(Ala110Thr) Unknown - likely benign g.73457316G>A g.74042986G>A ELN(NM_000501.4):c.328G>A (p.A110T), ELN(NM_001278939.1):c.328G>A (p.A110T), ELN(NM_001278939.2):c.328G>A (p.A110T) - ELN_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.328G>A r.(?) p.(Ala110Thr) Unknown - VUS g.73457316G>A g.74042986G>A ELN(NM_000501.4):c.328G>A (p.A110T), ELN(NM_001278939.1):c.328G>A (p.A110T), ELN(NM_001278939.2):c.328G>A (p.A110T) - ELN_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.328G>A r.(?) p.(Ala110Thr) Unknown - VUS g.73457316G>A - ELN(NM_000501.4):c.328G>A (p.A110T), ELN(NM_001278939.1):c.328G>A (p.A110T), ELN(NM_001278939.2):c.328G>A (p.A110T) - ELN_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.328G>A r.(?) p.(Ala110Thr) Unknown - likely benign g.73457316G>A - ELN(NM_000501.4):c.328G>A (p.A110T), ELN(NM_001278939.1):c.328G>A (p.A110T), ELN(NM_001278939.2):c.328G>A (p.A110T) - ELN_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.403G>A r.(?) p.(Gly135Arg) Unknown - VUS g.73457474G>A g.74043144G>A ELN(NM_000501.4):c.403G>A (p.G135R) - ELN_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.414T>C r.(?) p.(Pro138=) Unknown - likely benign g.73457485T>C g.74043155T>C ELN(NM_001278939.1):c.414T>C (p.P138=) - ELN_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.414T>C r.(?) p.(Pro138=) Unknown - likely benign g.73457485T>C - ELN(NM_001278939.1):c.414T>C (p.P138=) - ELN_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.427+8C>T r.(=) p.(=) Unknown - benign g.73457506C>T g.74043176C>T ELN(NM_000501.4):c.427+8C>T, ELN(NM_001278939.1):c.427+8C>T - ELN_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.427+8C>T r.(=) p.(=) Unknown - benign g.73457506C>T g.74043176C>T ELN(NM_000501.4):c.427+8C>T, ELN(NM_001278939.1):c.427+8C>T - ELN_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.427+8C>T r.(=) p.(=) Unknown - likely benign g.73457506C>T g.74043176C>T ELN(NM_000501.4):c.427+8C>T, ELN(NM_001278939.1):c.427+8C>T - ELN_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.427+9G>A r.(=) p.(=) Unknown - likely benign g.73457507G>A g.74043177G>A ELN(NM_000501.3):c.427+9G>A - ELN_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 8i c.427+92G>C r.(=) p.(=) Both (homozygous) - likely benign g.73457590G>C g.74043260G>C - - ELN_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.431T>G r.(?) p.(Val144Gly) Unknown - VUS g.73458212T>G - - - ELN_000190 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.434G>T r.(?) p.(Gly145Val) Unknown - VUS g.73458215G>T g.74043885G>T ELN(NM_000501.2):c.434G>T (p.(Gly145Val)) - ELN_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 9 c.450C>A r.(?) p.(Tyr150*) Maternal (confirmed) - likely pathogenic g.73458231C>A g.74043901C>A - - ELN_000005 - PubMed: El Malti 2016, Journal: El Malti 2016 - - Germline yes 1/156 patients - - - DNA SEQ blood - CHD MC054 PubMed: El Malti 2016, Journal: El Malti 2016 - M no France European >30y - yes - 1 Patrice Bouvagnet
?/. - c.460G>A r.(?) p.(Val154Met) Unknown - VUS g.73458241G>A g.74043911G>A ELN(NM_000501.3):c.460G>A (p.V154M) - ELN_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.470-10C>G r.(=) p.(=) Unknown - VUS g.73459542C>G g.74045212C>G ELN(NM_000501.3):c.470-10C>G - ELN_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.483C>A r.(?) p.(Pro161=) Unknown - likely benign g.73459565C>A g.74045235C>A ELN(NM_001278939.1):c.483C>A (p.P161=) - ELN_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.483C>A r.(?) p.(Pro161=) Unknown - likely benign g.73459565C>A - ELN(NM_001278939.1):c.483C>A (p.P161=) - ELN_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.493G>T r.(?) p.(Val165Leu) Unknown - benign g.73459575G>T g.74045245G>T ELN(NM_000501.2):c.493G>T (p.(Val165Leu)), ELN(NM_000501.4):c.493G>T (p.V165L) - ELN_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.493G>T r.(?) p.(Val165Leu) Unknown - VUS g.73459575G>T g.74045245G>T ELN(NM_000501.2):c.493G>T (p.(Val165Leu)), ELN(NM_000501.4):c.493G>T (p.V165L) - ELN_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.541+311A>G r.(=) p.(=) Unknown - likely benign g.73459934A>G - ELN(NM_000501.4):c.541+311A>G - ELN_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.574_579del r.(?) p.(Val192_Gly193del) Unknown - VUS g.73461028_73461033del g.74046698_74046703del ELN(NM_000501.3):c.574_579delGTTGGA (p.V192_G193del) - ELN_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.589G>T r.(?) p.(Gly197*) Unknown - likely pathogenic g.73461043G>T - - - ELN_000187 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.594G>A r.(?) p.(Pro198=) Unknown - likely benign g.73461048G>A - ELN(NM_001278939.1):c.594G>A (p.P198=) - ELN_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.647G>T r.(?) p.(Gly216Val) Unknown - VUS g.73462008G>T g.74047678G>T ELN(NM_000501.3):c.647G>T (p.G216V, p.(Gly216Val)), ELN(NM_000501.4):c.647G>T (p.G216V), ELN(NM_001278939.1):c.647G>T (p.G216V) - ELN_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.647G>T r.(?) p.(Gly216Val) Unknown - likely benign g.73462008G>T g.74047678G>T ELN(NM_000501.3):c.647G>T (p.G216V, p.(Gly216Val)), ELN(NM_000501.4):c.647G>T (p.G216V), ELN(NM_001278939.1):c.647G>T (p.G216V) - ELN_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.647G>T r.(?) p.(Gly216Val) Unknown - likely benign g.73462008G>T g.74047678G>T ELN(NM_000501.3):c.647G>T (p.G216V, p.(Gly216Val)), ELN(NM_000501.4):c.647G>T (p.G216V), ELN(NM_001278939.1):c.647G>T (p.G216V) - ELN_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.647G>T r.(?) p.(Gly216Val) Unknown - likely benign g.73462008G>T - ELN(NM_000501.3):c.647G>T (p.G216V, p.(Gly216Val)), ELN(NM_000501.4):c.647G>T (p.G216V), ELN(NM_001278939.1):c.647G>T (p.G216V) - ELN_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.690T>G r.(?) p.(Tyr230Ter) Unknown - pathogenic g.73462476T>G g.74048146T>G - - ELN_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.734C>A r.(?) p.(Pro245Gln) Unknown - VUS g.73462520C>A - ELN(NM_001278939.2):c.734C>A (p.P245Q) - ELN_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.745+2T>G r.spl? p.? Unknown - likely pathogenic g.73462533T>G g.74048203T>G ELN(NM_000501.3):c.745+2T>G - ELN_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.745+16C>T r.(=) p.(=) Unknown - likely benign g.73462547C>T g.74048217C>T ELN(NM_000501.4):c.745+16C>T - ELN_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.746-15G>C r.(=) p.(=) Unknown - likely benign g.73462818G>C g.74048488G>C ELN(NM_001278939.1):c.746-15G>C - ELN_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.771_773dup r.(?) p.(Ala260dup) Unknown - VUS g.73462858_73462860dup - ELN(NM_000501.4):c.771_773dup (p.(Ala260dup)) - ELN_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.800-5A>T r.spl? p.? Unknown - likely benign g.73466075A>T g.74051745A>T ELN(NM_000501.4):c.800-5A>T - ELN_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.861G>A r.(?) p.(Gly287=) Unknown - likely benign g.73466141G>A g.74051811G>A ELN(NM_000501.4):c.861G>A (p.G287=), ELN(NM_001278939.1):c.861G>A (p.G287=) - ELN_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.861G>A r.(?) p.(Gly287=) Unknown - likely benign g.73466141G>A g.74051811G>A ELN(NM_000501.4):c.861G>A (p.G287=), ELN(NM_001278939.1):c.861G>A (p.G287=) - ELN_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.881G>C r.(?) p.(Gly294Ala) Unknown - VUS g.73466161G>C - ELN(NM_000501.3):c.881G>C (p.(Gly294Ala)), ELN(NM_001278939.2):c.881G>C (p.G294A) - ELN_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.881G>C r.(?) p.(Gly294Ala) Unknown - VUS g.73466161G>C - ELN(NM_000501.3):c.881G>C (p.(Gly294Ala)), ELN(NM_001278939.2):c.881G>C (p.G294A) - ELN_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.892G>A r.(?) p.(Val298Ile) Unknown - benign g.73466256G>A g.74051926G>A ELN(NM_000501.2):c.892G>A (p.(Val298Ile)), ELN(NM_000501.4):c.892G>A (p.V298I), ELN(NM_001278939.1):c.892G>A (p.V298I) - ELN_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.892G>A r.(?) p.(Val298Ile) Unknown - VUS g.73466256G>A g.74051926G>A ELN(NM_000501.2):c.892G>A (p.(Val298Ile)), ELN(NM_000501.4):c.892G>A (p.V298I), ELN(NM_001278939.1):c.892G>A (p.V298I) - ELN_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.892G>A r.(?) p.(Val298Ile) Unknown - benign g.73466256G>A g.74051926G>A ELN(NM_000501.2):c.892G>A (p.(Val298Ile)), ELN(NM_000501.4):c.892G>A (p.V298I), ELN(NM_001278939.1):c.892G>A (p.V298I) - ELN_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.899C>T r.(?) p.(Thr300Ile) Unknown - likely benign g.73466263C>T g.74051933C>T - - ELN_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.912_923del r.(?) p.(Ala308_Ala311del) Unknown - VUS g.73466276_73466287del g.74051946_74051957del ELN(NM_001278939.1):c.912_923delTGCAGCTGCAGC (p.A308_A311del) - ELN_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.921A>G r.(?) p.(Ala307=) Unknown - benign g.73466285A>G g.74051955A>G ELN(NM_000501.4):c.921A>G (p.A307=) - ELN_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.931G>A r.(?) p.(Ala311Thr) Unknown - benign g.73466295G>A - ELN(NM_000501.4):c.931G>A (p.(Ala311Thr)) - ELN_000208 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.992C>T r.(?) p.(Pro331Leu) Unknown - likely benign g.73467535C>T g.74053205C>T - - ELN_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1001T>C r.(?) p.(Val334Ala) Unknown - likely benign g.73467544T>C g.74053214T>C ELN(NM_000501.4):c.1001T>C (p.V334A) - ELN_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1021G>A r.(?) p.(Val341Ile) Unknown - likely benign g.73467564G>A - ELN(NM_001278939.1):c.1021G>A (p.V341I) - ELN_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1082G>A r.(?) p.(Gly361Asp) Unknown - likely benign g.73467625G>A g.74053295G>A ELN(NM_001278939.1):c.1082G>A (p.G361D) - ELN_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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