Full data view for gene MEGF8

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

133 entries on 2 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     
-?/. - c.-1488C>G r.(?) p.(=) Unknown - likely benign g.42828908C>G g.42324756C>G TMEM145(NM_173633.2):c.1421C>G (p.(Pro474Arg)) - MEGF8_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.124G>C r.(?) p.(Gly42Arg) Unknown - VUS g.42830519G>C g.42326367G>C MEGF8(NM_001271938.1):c.124G>C (p.(Gly42Arg)) - MEGF8_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.136G>T r.(?) p.(Asp46Tyr) Unknown - likely pathogenic g.42830531G>T - MEGF8(NM_001271938.2):c.136G>T (p.D46Y) - MEGF8_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.281C>T r.(?) p.(Pro94Leu) Unknown - VUS g.42837850C>T g.42333698C>T MEGF8(NM_001271938.1):c.281C>T (p.(Pro94Leu)) - MEGF8_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.283C>T r.(?) p.(Arg95Ter) Unknown - VUS g.42837852C>T g.42333700C>T MEGF8(NM_001271938.1):c.283C>T (p.(Arg95Ter)) - MEGF8_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.284G>A r.(?) p.(Arg95Gln) Unknown - VUS g.42837853G>A g.42333701G>A MEGF8(NM_001410.2):c.284G>A (p.(Arg95Gln)) - MEGF8_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.357G>A r.(?) p.(=) Unknown - likely benign g.42838164G>A - MEGF8(NM_001271938.2):c.357G>A (p.(Leu119=)) - MEGF8_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.428C>G r.(?) p.(Pro143Arg) Unknown - likely benign g.42838235C>G g.42334083C>G MEGF8(NM_001271938.1):c.428C>G (p.(Pro143Arg)) - MEGF8_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.466G>A r.(?) p.(Gly156Ser) Unknown - VUS g.42838273G>A - MEGF8(NM_001410.3):c.466G>A (p.G156S) - MEGF8_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.496G>A r.(?) p.(Gly166Ser) Unknown - VUS g.42838303G>A - MEGF8(NM_001271938.1):c.496G>A (p.(Gly166Ser)) - MEGF8_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.558+7C>T r.(=) p.(=) Unknown - likely benign g.42838372C>T - MEGF8(NM_001271938.2):c.558+7C>T - MEGF8_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.574C>T r.(?) p.(Arg192Cys) Unknown - VUS g.42839202C>T g.42335050C>T MEGF8(NM_001271938.2):c.574C>T (p.R192C) - MEGF8_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.740-6C>T r.(=) p.(=) Unknown - likely benign g.42839443C>T g.42335291C>T MEGF8(NM_001271938.1):c.740-6C>T (p.(=)) - MEGF8_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.829-10T>C r.(=) p.(=) Unknown - likely benign g.42840073T>C - MEGF8(NM_001271938.2):c.829-10T>C - MEGF8_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.853G>A r.(?) p.(Val285Met) Unknown - likely benign g.42840107G>A g.42335955G>A MEGF8(NM_001271938.1):c.853G>A (p.(Val285Met)) - MEGF8_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1031A>G r.(?) p.(Asp344Gly) Unknown - VUS g.42840285A>G - MEGF8(NM_001271938.2):c.1031A>G (p.(Asp344Gly)) - MEGF8_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1057C>T r.(?) p.(Arg353Cys) Unknown - VUS g.42840311C>T - MEGF8(NM_001271938.2):c.1057C>T (p.(Arg353Cys)) - MEGF8_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1197C>T r.(?) p.(=) Unknown - benign g.42840451C>T - MEGF8(NM_001271938.2):c.1197C>T (p.(Pro399=)) - MEGF8_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1214T>C r.(?) p.(Val405Ala) Unknown - VUS g.42840468T>C g.42336316T>C NM_001271938.2:c.1214T>C - MEGF8_000118 - PubMed: Mansoorshahi 2024 - rs1357365314 Germline - - - - - DNA SEQ, SEQ-NG - WES CHD BAV780 PubMed: Mansoorshahi 2024 analysis 215 early-onset complications bicuspid aortic valve-affected families. - - United States - - - - - 1 Johan den Dunnen
?/. - c.1343G>A r.(?) p.(Arg448Gln) Unknown - VUS g.42841057G>A - MEGF8(NM_001271938.1):c.1343G>A (p.(Arg448Gln)) - MEGF8_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1393G>A r.(?) p.(Gly465Ser) Unknown - VUS g.42841238G>A - MEGF8(NM_001271938.1):c.1393G>A (p.(Gly465Ser)) - MEGF8_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1600G>A r.(?) p.(Gly534Ser) Unknown - VUS g.42847715G>A g.42343563G>A MEGF8(NM_001271938.2):c.1600G>A (p.G534S) - MEGF8_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1816G>C r.(?) p.(Gly606Arg) Unknown - VUS g.42848620G>C g.42344468G>C MEGF8(NM_001271938.1):c.1816G>C (p.(Gly606Arg)) - MEGF8_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1902C>T r.(?) p.(Cys634=) Unknown - likely benign g.42848706C>T g.42344554C>T MEGF8(NM_001271938.2):c.1902C>T (p.C634=) - MEGF8_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2098-1185G>A r.(=) p.(=) Unknown - likely benign g.42852466G>A - MEGF8(NM_001271938.1):c.2140G>A (p.(Ala714Thr)) - MEGF8_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2098-6C>T r.(=) p.(=) Unknown - likely benign g.42853645C>T - MEGF8(NM_001271938.2):c.2299-6C>T - MEGF8_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2234C>T r.(?) p.(Ser745Leu) Unknown - VUS g.42853787C>T - MEGF8(NM_001410.2):c.2234C>T (p.(Ser745Leu)) - MEGF8_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2249A>G r.(?) p.(His750Arg) Unknown - likely benign g.42853802A>G - MEGF8(NM_001271938.2):c.2450A>G (p.H817R) - MEGF8_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2253C>T r.(?) p.(Ser751=) Unknown - likely benign g.42853806C>T g.42349654C>T MEGF8(NM_001271938.2):c.2454C>T (p.S818=) - MEGF8_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2276G>A r.(?) p.(Arg759Gln) Unknown - VUS g.42853829G>A g.42349677G>A MEGF8(NM_001271938.1):c.2477G>A (p.(Arg826Gln)), MEGF8(NM_001271938.2):c.2477G>A (p.R826Q) - MEGF8_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2276G>A r.(?) p.(Arg759Gln) Unknown - VUS g.42853829G>A g.42349677G>A MEGF8(NM_001271938.1):c.2477G>A (p.(Arg826Gln)), MEGF8(NM_001271938.2):c.2477G>A (p.R826Q) - MEGF8_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2336C>T r.(?) p.(Ser779Leu) Unknown - likely benign g.42854337C>T g.42350185C>T MEGF8(NM_001271938.1):c.2537C>T (p.(Ser846Leu)), MEGF8(NM_001271938.2):c.2537C>T (p.S846L) - MEGF8_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2336C>T r.(?) p.(Ser779Leu) Unknown - likely benign g.42854337C>T - MEGF8(NM_001271938.1):c.2537C>T (p.(Ser846Leu)), MEGF8(NM_001271938.2):c.2537C>T (p.S846L) - MEGF8_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2372T>C r.(?) p.(Leu791Ser) Unknown - VUS g.42854373T>C - MEGF8(NM_001271938.2):c.2573T>C (p.(Leu858Ser)) - MEGF8_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2405G>A r.(?) p.(Ser802Asn) Unknown - VUS g.42854406G>A g.42350254G>A MEGF8(NM_001410.2):c.2405G>A (p.(Ser802Asn)) - MEGF8_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2431G>A r.(?) p.(Gly811Arg) Unknown - likely benign g.42854432G>A g.42350280G>A MEGF8(NM_001271938.1):c.2632G>A (p.(Gly878Arg)) - MEGF8_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2495C>T r.(?) p.(Pro832Leu) Unknown - VUS g.42854496C>T - MEGF8(NM_001410.3):c.2495C>T (p.P832L) - MEGF8_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2749C>T r.(?) p.(Arg917Trp) Unknown - VUS g.42855675C>T - MEGF8(NM_001271938.2):c.2950C>T (p.(Arg984Trp)) - MEGF8_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2809C>T r.(?) p.(Arg937Trp) Unknown - VUS g.42855822C>T - MEGF8(NM_001410.3):c.2809C>T (p.R937W) - MEGF8_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2832C>T r.(?) p.(Thr944=) Unknown - likely benign g.42855845C>T - MEGF8(NM_001271938.2):c.3033C>T (p.T1011=) - MEGF8_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2870G>A r.(?) p.(Cys957Tyr) Unknown - VUS g.42855883G>A - MEGF8(NM_001271938.2):c.3071G>A (p.(Cys1024Tyr)) - MEGF8_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3150-3C>T r.spl? p.? Unknown - likely benign g.42857077C>T g.42352925C>T MEGF8(NM_001271938.2):c.3351-3C>T - MEGF8_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3191C>T r.(?) p.(Pro1064Leu) Unknown - VUS g.42857121C>T g.42352969C>T MEGF8(NM_001271938.1):c.3392C>T (p.(Pro1131Leu)) - MEGF8_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3255G>A r.(?) p.(Pro1085=) Unknown - VUS g.42857185G>A g.42353033G>A MEGF8(NM_001271938.2):c.3456G>A (p.P1152=, p.(Pro1152=)) - MEGF8_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3255G>A r.(?) p.(Pro1085=) Unknown - VUS g.42857185G>A - MEGF8(NM_001271938.2):c.3456G>A (p.P1152=, p.(Pro1152=)) - MEGF8_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3280C>T r.(?) p.(Arg1094Trp) Unknown - VUS g.42857210C>T g.42353058C>T MEGF8(NM_001271938.1):c.3481C>T (p.(Arg1161Trp)) - MEGF8_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3561G>C r.(?) p.(Arg1187=) Unknown - likely benign g.42857927G>C g.42353775G>C MEGF8(NM_001271938.1):c.3762G>C (p.(=)) - MEGF8_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3810G>A r.(?) p.(=) Unknown - VUS g.42858176G>A - MEGF8(NM_001271938.2):c.4011G>A (p.(Thr1337=)) - MEGF8_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3878G>A r.(?) p.(Arg1293His) Unknown - likely benign g.42858807G>A g.42354655G>A MEGF8(NM_001271938.1):c.4079G>A (p.(Arg1360His)) - MEGF8_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3943+4C>G r.spl? p.? Unknown - likely benign g.42858876C>G - MEGF8(NM_001271938.2):c.4144+4C>G - MEGF8_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3943+4C>T r.spl? p.? Unknown - VUS g.42858876C>T g.42354724C>T MEGF8(NM_001271938.1):c.4144+4C>T (p.?) - MEGF8_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4192-5C>A r.spl? p.? Unknown - likely benign g.42860230C>A g.42356078C>A MEGF8(NM_001271938.1):c.4393-5C>A (p.?) - MEGF8_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4240G>A r.(?) p.(Ala1414Thr) Unknown - VUS g.42860283G>A g.42356131G>A MEGF8(NM_001271938.1):c.4441G>A (p.(Ala1481Thr)) - MEGF8_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4302C>T r.(?) p.(=) Unknown - likely benign g.42860345C>T - MEGF8(NM_001271938.2):c.4503C>T (p.(Ala1501=)) - MEGF8_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4328G>A r.(?) p.(Arg1443His) Unknown - VUS g.42860512G>A g.42356360G>A MEGF8(NM_001271938.1):c.4529G>A (p.(Arg1510His)) - MEGF8_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.4421+1G>A r.spl? p.? Unknown - likely pathogenic g.42860606G>A - MEGF8(NM_001410.3):c.4421+1G>A - MEGF8_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4422-10C>T r.(=) p.(=) Unknown - likely benign g.42860916C>T - MEGF8(NM_001271938.2):c.4623-10C>T - MEGF8_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4532G>A r.(?) p.(Arg1511His) Unknown - VUS g.42861036G>A g.42356884G>A MEGF8(NM_001271938.1):c.4733G>A (p.(Arg1578His)) - MEGF8_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4563C>T r.(?) p.(Thr1521=) Unknown - likely benign g.42861067C>T - MEGF8(NM_001410.3):c.4563C>T (p.T1521=) - MEGF8_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4580G>A r.(?) p.(Arg1527His) Unknown - likely benign g.42861084G>A g.42356932G>A MEGF8(NM_001271938.1):c.4781G>A (p.(Arg1594His)), MEGF8(NM_001271938.2):c.4781G>A (p.R1594H) - MEGF8_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4580G>A r.(?) p.(Arg1527His) Unknown - likely benign g.42861084G>A g.42356932G>A MEGF8(NM_001271938.1):c.4781G>A (p.(Arg1594His)), MEGF8(NM_001271938.2):c.4781G>A (p.R1594H) - MEGF8_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.4629+2T>C r.spl p.? Unknown - VUS g.42861135T>C g.42356983T>C NM_001271938.2:c.4830+2T>C - MEGF8_000119 - PubMed: Mansoorshahi 2024 - rs541733405 Germline - - - - - DNA SEQ, SEQ-NG - WES CHD BAV148 PubMed: Mansoorshahi 2024 analysis 215 early-onset complications bicuspid aortic valve-affected families. - - United States - - - - - 1 Johan den Dunnen
-?/. - c.4629+5G>T r.spl? p.? Unknown - likely benign g.42861138G>T - MEGF8(NM_001271938.1):c.4830+5G>T (p.?) - MEGF8_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4636C>A r.(?) p.(Gln1546Lys) Unknown - VUS g.42861562C>A g.42357410C>A MEGF8(NM_001271938.1):c.4837C>A (p.(Gln1613Lys)) - MEGF8_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.4846A>C r.(?) p.(Thr1616Pro) Unknown - VUS g.42862331A>C g.42358179A>C NM_001271938.2:c.5047A>C - MEGF8_000120 - PubMed: Mansoorshahi 2024 - rs2039479548 Germline - - - - - DNA SEQ, SEQ-NG - WES CHD BAV946 PubMed: Mansoorshahi 2024 analysis 215 early-onset complications bicuspid aortic valve-affected families. - - United States - - - - - 1 Johan den Dunnen
?/. - c.4911G>T r.(?) p.(Glu1637Asp) Unknown - VUS g.42862396G>T g.42358244G>T MEGF8(NM_001271938.2):c.5112G>T (p.E1704D) - MEGF8_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5074A>G r.(?) p.(Met1692Val) Unknown - likely benign g.42863038A>G - MEGF8(NM_001271938.2):c.5275A>G (p.(Met1759Val)) - MEGF8_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5080C>G r.(?) p.(Leu1694Val) Unknown - likely benign g.42863044C>G - MEGF8(NM_001271938.1):c.5281C>G (p.(Leu1761Val)) - MEGF8_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5115G>A r.(?) p.(=) Unknown - likely benign g.42863079G>A - MEGF8(NM_001271938.2):c.5316G>A (p.(Leu1772=)) - MEGF8_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5119G>C r.(?) p.(Glu1707Gln) Unknown - likely benign g.42863083G>C g.42358931G>C MEGF8(NM_001271938.1):c.5320G>C (p.(Glu1774Gln)) - MEGF8_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5170G>T r.(?) p.(Ala1724Ser) Unknown - VUS g.42863277G>T - MEGF8(NM_001410.2):c.5170G>T (p.(Ala1724Ser)) - MEGF8_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5211G>A r.(?) p.(Ser1737=) Unknown - likely benign g.42863318G>A g.42359166G>A MEGF8(NM_001271938.2):c.5412G>A (p.S1804=) - MEGF8_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5251G>C r.(?) p.(Val1751Leu) Unknown - VUS g.42863358G>C g.42359206G>C MEGF8(NM_001271938.2):c.5452G>C (p.V1818L) - MEGF8_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5433C>T r.(?) p.(=) Unknown - likely benign g.42865072C>T - MEGF8(NM_001271938.2):c.5634C>T (p.(Arg1878=)) - MEGF8_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5503G>C r.(?) p.(Gly1835Arg) Unknown - VUS g.42865142G>C g.42360990G>C MEGF8(NM_001271938.2):c.5704G>C (p.G1902R) - MEGF8_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5506G>C r.(?) p.(Asp1836His) Unknown - likely benign g.42865145G>C g.42360993G>C MEGF8(NM_001271938.1):c.5707G>C (p.(Asp1903His)) - MEGF8_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5532G>A r.(?) p.(Gly1844=) Unknown - likely benign g.42866254G>A - MEGF8(NM_001271938.2):c.5733G>A (p.G1911=) - MEGF8_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5609G>A r.(?) p.(Arg1870His) Unknown - VUS g.42866331G>A - MEGF8(NM_001271938.2):c.5810G>A (p.(Arg1937His)) - MEGF8_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5622C>T r.(?) p.(Thr1874=) Unknown - likely benign g.42866344C>T g.42362192C>T MEGF8(NM_001271938.2):c.5823C>T (p.T1941=) - MEGF8_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5644-3C>G r.spl? p.? Unknown - VUS g.42866533C>G - MEGF8(NM_001271938.2):c.5845-3C>G - MEGF8_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5857+5G>T r.spl? p.? Unknown - likely benign g.42866754G>T g.42362602G>T MEGF8(NM_001271938.2):c.6058+5G>T, MEGF8(NM_001410.2):c.5857+5G>T (p.?) - MEGF8_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5857+5G>T r.spl? p.? Unknown - likely benign g.42866754G>T - MEGF8(NM_001271938.2):c.6058+5G>T, MEGF8(NM_001410.2):c.5857+5G>T (p.?) - MEGF8_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5942C>T r.(?) p.(Pro1981Leu) Unknown - VUS g.42867284C>T g.42363132C>T MEGF8(NM_001271938.1):c.6143C>T (p.(Pro2048Leu)) - MEGF8_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6073-8C>G r.(=) p.(=) Unknown - likely benign g.42872599C>G - MEGF8(NM_001271938.1):c.6274-8C>G (p.(=)) - MEGF8_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6158G>C r.(?) p.(Gly2053Ala) Unknown - likely benign g.42872692G>C g.42368540G>C MEGF8(NM_001271938.2):c.6359G>C (p.G2120A) - MEGF8_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6194G>A r.(?) p.(Arg2065Gln) Unknown - VUS g.42872728G>A - MEGF8(NM_001271938.2):c.6395G>A (p.R2132Q) - MEGF8_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.6375G>A r.(?) p.(=) Unknown - benign g.42873089G>A - MEGF8(NM_001271938.2):c.6576G>A (p.(Thr2192=)) - MEGF8_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6514C>T r.(?) p.(Arg2172Cys) Unknown - VUS g.42873756C>T - MEGF8(NM_001271938.2):c.6715C>T (p.R2239C) - MEGF8_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6634-8G>T r.(=) p.(=) Unknown - likely benign g.42874333G>T - MEGF8(NM_001271938.2):c.6835-8G>T - MEGF8_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.6659C>T r.(?) p.(Pro2220Leu) Unknown - VUS g.42874366C>T g.42370214C>T - - MEGF8_000085 - PubMed: Zhu 2015 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES ? Trio108 PubMed: Zhu 2015 - M - United States - - - - - 1 Johan den Dunnen
-?/. - c.6733A>G r.(?) p.(Ile2245Val) Unknown - likely benign g.42874440A>G - MEGF8(NM_001271938.1):c.6934A>G (p.(Ile2312Val)) - MEGF8_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6840C>T r.(?) p.(Asp2280=) Unknown - likely benign g.42874888C>T - MEGF8(NM_001271938.2):c.7041C>T (p.D2347=) - MEGF8_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6847G>A r.(?) p.(Val2283Met) Unknown - likely benign g.42874895G>A g.42370743G>A MEGF8(NM_001271938.1):c.7048G>A (p.(Val2350Met)) - MEGF8_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.6852C>T r.(?) p.(=) Unknown - benign g.42874900C>T - MEGF8(NM_001271938.2):c.7053C>T (p.(Cys2351=)) - MEGF8_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6853G>A r.(?) p.(Val2285Met) Unknown - likely benign g.42874901G>A g.42370749G>A MEGF8(NM_001271938.1):c.7054G>A (p.(Val2352Met)) - MEGF8_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.6853G>A r.(?) p.(Val2285Met) Parent #1 - benign g.42874901G>A g.42370749G>A - - MEGF8_000061 22 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs112167630 Germline - 22/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 22 Mohammed Faruq
-/. - c.6853G>A r.(?) p.(Val2285Met) Both (homozygous) - benign g.42874901G>A g.42370749G>A - - MEGF8_000061 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs112167630 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+?/. - c.6935+1G>A r.spl? p.? Unknown - likely pathogenic g.42874984G>A - MEGF8(NM_001271938.2):c.7136+1G>A - MEGF8_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6935+10A>T r.(=) p.(=) Unknown - likely benign g.42874993A>T - MEGF8(NM_001271938.2):c.7136+10A>T - MEGF8_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6935+36_6935+41del r.(=) p.(=) Unknown - likely benign g.42875019_42875024del - MEGF8(NM_001410.3):c.6935+36_6935+41delGGGGGG - MEGF8_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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