Full data view for gene EFEMP2

Information The variants shown are described using the NM_016938.4 transcript reference sequence.

83 entries on 1 page. Showing entries 1 - 83.
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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.-58G>A r.(?) p.(=) Unknown - benign g.65640204C>T g.65872733C>T - - EFEMP2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.14C>A r.(?) p.(Ala5Asp) Unknown - VUS g.65639812G>T g.65872341G>T EFEMP2(NM_016938.4):c.14C>A (p.A5D) - EFEMP2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.27C>G r.(?) p.(Pro9=) Unknown - likely benign g.65639799G>C g.65872328G>C EFEMP2(NM_016938.4):c.27C>G (p.P9=), EFEMP2(NM_016938.5):c.27C>G (p.P9=) - EFEMP2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.27C>G r.(?) p.(Pro9=) Unknown - likely benign g.65639799G>C g.65872328G>C EFEMP2(NM_016938.4):c.27C>G (p.P9=), EFEMP2(NM_016938.5):c.27C>G (p.P9=) - EFEMP2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.34C>T r.(?) p.(Leu12=) Unknown - likely benign g.65639792G>A g.65872321G>A EFEMP2(NM_016938.5):c.34C>T (p.L12=) - EFEMP2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.96G>A r.(?) p.(Glu32=) Unknown - likely benign g.65639730C>T g.65872259C>T EFEMP2(NM_016938.5):c.96G>A (p.E32=) - EFEMP2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.99C>T r.(?) p.(Pro33=) Unknown - likely benign g.65639727G>A g.65872256G>A EFEMP2(NM_016938.5):c.99C>T (p.P33=) - EFEMP2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.111+1G>A r.spl p.? Both (homozygous) - pathogenic g.65639714C>T g.65872243C>T - - chr11_008605 ACMG PM1, PM2, PM5, PP2, PP3 PubMed: Tuysuz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel OI Pat119 PubMed: Tuysuz 2022 - - - Turkey - - - - - 1 Johan den Dunnen
-?/. - c.111+102G>A r.(=) p.(=) Unknown - likely benign g.65639613C>T - EFEMP2(NM_016938.5):c.111+102G>A - EFEMP2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.138C>T r.(?) p.(Asp46=) Unknown - benign g.65639463G>A g.65871992G>A EFEMP2(NM_016938.4):c.138C>T (p.D46=) - EFEMP2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.139C>T r.(?) p.(Pro47Ser) Unknown - likely benign g.65639462G>A g.65871991G>A EFEMP2(NM_016938.4):c.139C>T (p.P47S), EFEMP2(NM_016938.5):c.139C>T (p.P47S) - EFEMP2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.139C>T r.(?) p.(Pro47Ser) Unknown - likely benign g.65639462G>A g.65871991G>A EFEMP2(NM_016938.4):c.139C>T (p.P47S), EFEMP2(NM_016938.5):c.139C>T (p.P47S) - EFEMP2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.139C>T r.(?) p.(Pro47Ser) Unknown - likely benign g.65639462G>A g.65871991G>A EFEMP2(NM_016938.4):c.139C>T (p.P47S), EFEMP2(NM_016938.5):c.139C>T (p.P47S) - EFEMP2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.160+17G>T r.(=) p.(=) Unknown - likely benign g.65639424C>A g.65871953C>A EFEMP2(NM_016938.4):c.160+17G>T - EFEMP2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.161-10C>T r.(=) p.(=) Unknown - benign g.65638844G>A g.65871373G>A EFEMP2(NM_016938.4):c.161-10C>T - EFEMP2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.209A>G r.(?) p.(Lys70Arg) Unknown - VUS g.65638786T>C g.65871315T>C - - EFEMP2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.276C>T r.(?) p.(His92=) Unknown - benign g.65638719G>A g.65871248G>A EFEMP2(NM_016938.4):c.276C>T (p.H92=), EFEMP2(NM_016938.5):c.276C>T (p.H92=) - EFEMP2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.276C>T r.(?) p.(His92=) Unknown - benign g.65638719G>A g.65871248G>A EFEMP2(NM_016938.4):c.276C>T (p.H92=), EFEMP2(NM_016938.5):c.276C>T (p.H92=) - EFEMP2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.276C>T r.(?) p.(His92=) Unknown - benign g.65638719G>A g.65871248G>A EFEMP2(NM_016938.4):c.276C>T (p.H92=), EFEMP2(NM_016938.5):c.276C>T (p.H92=) - EFEMP2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.277G>A r.(?) p.(Gly93Ser) Unknown - likely benign g.65638718C>T g.65871247C>T EFEMP2(NM_016938.4):c.277G>A (p.G93S), EFEMP2(NM_016938.5):c.277G>A (p.G93S) - EFEMP2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.277G>A r.(?) p.(Gly93Ser) Unknown - likely benign g.65638718C>T g.65871247C>T EFEMP2(NM_016938.4):c.277G>A (p.G93S), EFEMP2(NM_016938.5):c.277G>A (p.G93S) - EFEMP2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.277G>A r.(?) p.(Gly93Ser) Unknown - benign g.65638718C>T g.65871247C>T EFEMP2(NM_016938.4):c.277G>A (p.G93S), EFEMP2(NM_016938.5):c.277G>A (p.G93S) - EFEMP2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.290C>T r.(?) p.(Pro97Leu) Unknown - likely benign g.65638705G>A g.65871234G>A - - EFEMP2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.307G>A r.(?) p.(Ala103Thr) Unknown - likely benign g.65638688C>T - EFEMP2(NM_016938.4):c.307G>A (p.A103T) - EFEMP2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.339T>G r.(?) p.(Tyr113*) Unknown - VUS g.65638656A>C - EFEMP2(NM_016938.5):c.339T>G (p.(Tyr113*)) - EFEMP2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.367+90del r.(=) p.(=) Unknown - benign g.65638540del g.65871069del EFEMP2(NM_016938.4):c.367+90delG - EFEMP2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.367+187G>A r.(=) p.(=) Unknown - likely benign g.65638441C>T - EFEMP2(NM_016938.5):c.367+187G>A - EFEMP2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.368-11G>A r.(=) p.(=) Unknown - likely benign g.65638140C>T g.65870669C>T EFEMP2(NM_016938.5):c.368-11G>A - EFEMP2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.368-11G>A r.(=) p.(=) Unknown - likely benign g.65638140C>T - EFEMP2(NM_016938.5):c.368-11G>A - EFEMP2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.368-4G>A r.spl? p.? Unknown - likely benign g.65638133C>T g.65870662C>T EFEMP2(NM_016938.4):c.368-4G>A (p.?), EFEMP2(NM_016938.5):c.368-4G>A - EFEMP2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.368-4G>A r.spl? p.? Unknown - likely benign g.65638133C>T g.65870662C>T EFEMP2(NM_016938.4):c.368-4G>A (p.?), EFEMP2(NM_016938.5):c.368-4G>A - EFEMP2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.368-4G>A r.spl? p.? Unknown - likely benign g.65638133C>T g.65870662C>T EFEMP2(NM_016938.4):c.368-4G>A (p.?), EFEMP2(NM_016938.5):c.368-4G>A - EFEMP2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.368-4G>A r.spl? p.? Unknown - likely benign g.65638133C>T - EFEMP2(NM_016938.4):c.368-4G>A (p.?), EFEMP2(NM_016938.5):c.368-4G>A - EFEMP2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.397G>A r.(?) p.(Asp133Asn) Unknown - VUS g.65638100C>T g.65870629C>T EFEMP2(NM_016938.4):c.397G>A (p.D133N) - EFEMP2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.481G>A r.(?) p.(Glu161Lys) Both (homozygous) ACMG pathogenic g.65638016C>T g.65870545C>T - - EFEMP2_000001 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - ARCL1B - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
-/. - c.490+23G>C r.(=) p.(=) Unknown - benign g.65637984C>G g.65870513C>G EFEMP2(NM_016938.4):c.490+23G>C, EFEMP2(NM_016938.5):c.490+23G>C - EFEMP2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.490+23G>C r.(=) p.(=) Unknown - benign g.65637984C>G g.65870513C>G EFEMP2(NM_016938.4):c.490+23G>C, EFEMP2(NM_016938.5):c.490+23G>C - EFEMP2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.491-28_491-22del r.(=) p.(=) Unknown - benign g.65637737_65637743del g.65870266_65870272del EFEMP2(NM_016938.4):c.491-28_491-22delGCCCTCC - EFEMP2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.494T>C r.(?) p.(Ile165Thr) Unknown - VUS g.65637705A>G g.65870234A>G EFEMP2(NM_016938.5):c.494T>C (p.I165T) - EFEMP2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.505C>A r.(?) p.(Arg169Ser) Unknown - VUS g.65637694G>T g.65870223G>T EFEMP2(NM_016938.4):c.505C>A (p.R169S) - EFEMP2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.506G>A r.(?) p.(Arg169His) Unknown - VUS g.65637693C>T g.65870222C>T - - EFEMP2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.506G>A r.(?) p.(Arg169His) Both (homozygous) - likely pathogenic (recessive) g.65637693C>T g.65870222C>T NM_016938.4:c.506G>A:p.(Arg169His) - EFEMP2_000028 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 17DG0797 PubMed: Maddirevula 2018 isolated case F yes - Arab - - - - 1 LOVD
+/. - c.506G>A r.(?) p.(Arg169His) Both (homozygous) - pathogenic (recessive) g.65637693C>T g.65870222C>T - - EFEMP2_000028 - PubMed: Westra 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NMD Pat32 PubMed: Westra 2019 - F - - - - - - - 1 Johan den Dunnen
?/. 6 c.554G>A r.(?) p.(Arg185His) Unknown - VUS g.65637645C>T g.65870174C>T - - EFEMP2_000002 - PubMed: Neubauer 2018, Journal: Neubauer 2018 - rs143662598 Unknown - - - - - DNA SEQ-NG-I - - SUD SUDS047 PubMed: Neubauer 2018, Journal: Neubauer 2018 - F - Switzerland Europe 33y - - - 1 Cordula Haas
?/. - c.562T>G r.(?) p.(Cys188Gly) Unknown - VUS g.65637637A>C g.65870166A>C EFEMP2(NM_016938.4):c.562T>G (p.C188G) - EFEMP2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.564C>T r.(?) p.(Cys188=) Unknown - likely benign g.65637635G>A g.65870164G>A EFEMP2(NM_016938.4):c.564C>T (p.C188=) - EFEMP2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.570G>A r.(?) p.(Pro190=) Unknown - likely benign g.65637629C>T - EFEMP2(NM_016938.5):c.570G>A (p.P190=) - EFEMP2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.607+19A>G r.(=) p.(=) Unknown - likely benign g.65637573T>C g.65870102T>C EFEMP2(NM_016938.5):c.607+19A>G - EFEMP2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.608-38_608-36del r.(=) p.(=) Unknown - benign g.65637490_65637492del g.65870019_65870021del EFEMP2(NM_016938.4):c.608-38_608-36delTCC - EFEMP2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.628G>A r.(?) p.(Gly210Arg) Unknown - VUS g.65637427C>T - EFEMP2(NM_016938.4):c.628G>A (p.G210R) - EFEMP2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.774C>T r.(?) p.(Cys258=) Unknown - likely benign g.65636054G>A g.65868583G>A EFEMP2(NM_016938.4):c.774C>T (p.C258=) - EFEMP2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.775A>G r.(?) p.(Ile259Val) Unknown - benign g.65636053T>C g.65868582T>C EFEMP2(NM_016938.4):c.775A>G (p.I259V), EFEMP2(NM_016938.5):c.775A>G (p.I259V) - EFEMP2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.775A>G r.(?) p.(Ile259Val) Unknown - benign g.65636053T>C g.65868582T>C EFEMP2(NM_016938.4):c.775A>G (p.I259V), EFEMP2(NM_016938.5):c.775A>G (p.I259V) - EFEMP2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.775A>G r.(?) p.(Ile259Val) Unknown - benign g.65636053T>C g.65868582T>C EFEMP2(NM_016938.4):c.775A>G (p.I259V), EFEMP2(NM_016938.5):c.775A>G (p.I259V) - EFEMP2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.775A>G r.(?) p.(Ile259Val) Unknown - benign g.65636053T>C g.65868582T>C EFEMP2(NM_016938.4):c.775A>G (p.I259V), EFEMP2(NM_016938.5):c.775A>G (p.I259V) - EFEMP2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.790C>T r.(?) p.(Arg264Cys) Unknown - VUS g.65636038G>A - EFEMP2(NM_016938.5):c.790C>T (p.(Arg264Cys)) - EFEMP2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.792T>C r.(?) p.(Arg264=) Unknown - likely benign g.65636036A>G g.65868565A>G EFEMP2(NM_016938.5):c.792T>C (p.R264=) - EFEMP2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.848-19C>T r.(=) p.(=) Unknown - benign g.65635911G>A g.65868440G>A - - EFEMP2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.872C>T r.(?) p.(Ala291Val) Unknown - likely benign g.65635868G>A g.65868397G>A - - EFEMP2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.885C>T r.(?) p.(Ser295=) Unknown - likely benign g.65635855G>A g.65868384G>A EFEMP2(NM_016938.4):c.885C>T (p.S295=), EFEMP2(NM_016938.5):c.885C>T (p.S295=) - EFEMP2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.885C>T r.(?) p.(Ser295=) Unknown - likely benign g.65635855G>A g.65868384G>A EFEMP2(NM_016938.4):c.885C>T (p.S295=), EFEMP2(NM_016938.5):c.885C>T (p.S295=) - EFEMP2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.885C>T r.(?) p.(Ser295=) Unknown - likely benign g.65635855G>A g.65868384G>A EFEMP2(NM_016938.4):c.885C>T (p.S295=), EFEMP2(NM_016938.5):c.885C>T (p.S295=) - EFEMP2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.923G>A r.(?) p.(Arg308His) Unknown - VUS g.65635817C>T g.65868346C>T EFEMP2(NM_016938.4):c.923G>A (p.R308H) - EFEMP2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.923G>A r.(?) p.(Arg308His) Unknown - likely benign g.65635817C>T g.65868346C>T EFEMP2(NM_016938.4):c.923G>A (p.R308H) - EFEMP2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.934A>G r.(?) p.(Thr312Ala) Unknown - VUS g.65635806T>C g.65868335T>C EFEMP2(NM_016938.4):c.934A>G (p.T312A) - EFEMP2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.937A>G r.(?) p.(Asn313Asp) Unknown - VUS g.65635803T>C g.65868332T>C - - EFEMP2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.937_939delinsGAT r.(?) p.(Asn313Asp) Unknown - VUS g.65635801_65635803delinsATC g.65868330_65868332delinsATC - - EFEMP2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.939C>T r.(?) p.(Asn313=) Unknown - likely benign g.65635801G>A g.65868330G>A EFEMP2(NM_016938.5):c.939C>T (p.N313=) - EFEMP2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.939C>T r.(?) p.(Asn313=) Unknown - likely benign g.65635801G>A g.65868330G>A EFEMP2(NM_016938.5):c.939C>T (p.N313=) - EFEMP2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.975-15C>T r.(=) p.(=) Unknown - likely benign g.65635542G>A g.65868071G>A EFEMP2(NM_016938.5):c.975-15C>T - EFEMP2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.975-15C>T r.(=) p.(=) Unknown - likely benign g.65635542G>A g.65868071G>A EFEMP2(NM_016938.5):c.975-15C>T - EFEMP2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.977G>A r.(?) p.(Arg326His) Unknown - likely benign g.65635525C>T - EFEMP2(NM_016938.5):c.977G>A (p.R326H) - EFEMP2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1047C>T r.(?) p.(Thr349=) Unknown - likely benign g.65635455G>A g.65867984G>A EFEMP2(NM_016938.4):c.1047C>T (p.T349=) - EFEMP2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1061G>A r.(?) p.(Arg354Gln) Unknown - VUS g.65635441C>T - EFEMP2(NM_016938.5):c.1061G>A (p.(Arg354Gln)) - EFEMP2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1065C>A r.(?) p.(Ser355Arg) Unknown - VUS g.65635437G>T g.65867966G>T EFEMP2(NM_016938.4):c.1065C>A (p.S355R), EFEMP2(NM_016938.5):c.1065C>A (p.S355R) - EFEMP2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1065C>A r.(?) p.(Ser355Arg) Unknown - VUS g.65635437G>T g.65867966G>T EFEMP2(NM_016938.4):c.1065C>A (p.S355R), EFEMP2(NM_016938.5):c.1065C>A (p.S355R) - EFEMP2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1065C>A r.(?) p.(Ser355Arg) Unknown - VUS g.65635437G>T g.65867966G>T EFEMP2(NM_016938.4):c.1065C>A (p.S355R), EFEMP2(NM_016938.5):c.1065C>A (p.S355R) - EFEMP2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1095G>A r.(?) p.(Ala365=) Unknown - likely benign g.65635407C>T g.65867936C>T EFEMP2(NM_016938.4):c.1095G>A (p.A365=) - EFEMP2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1170+17C>T r.(=) p.(=) Unknown - likely benign g.65635315G>A g.65867844G>A EFEMP2(NM_016938.5):c.1170+17C>T - EFEMP2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1188C>T r.(?) p.(Ser396=) Unknown - benign g.65634533G>A g.65867062G>A EFEMP2(NM_016938.4):c.1188C>T (p.S396=), EFEMP2(NM_016938.5):c.1188C>T (p.S396=) - EFEMP2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1188C>T r.(?) p.(Ser396=) Unknown - likely benign g.65634533G>A g.65867062G>A EFEMP2(NM_016938.4):c.1188C>T (p.S396=), EFEMP2(NM_016938.5):c.1188C>T (p.S396=) - EFEMP2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1188C>T r.(?) p.(Ser396=) Unknown - likely benign g.65634533G>A - EFEMP2(NM_016938.4):c.1188C>T (p.S396=), EFEMP2(NM_016938.5):c.1188C>T (p.S396=) - EFEMP2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*282C>T r.(=) p.(=) Unknown - likely benign g.65634107G>A g.65866636G>A - - EFEMP2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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