Full data view for gene MCM7

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

72 entries on 1 page. Showing entries 1 - 72.
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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.-6280C>T r.(?) p.(=) Unknown - VUS g.99705197G>A g.100107574G>A TAF6(NM_001190415.1):c.1817C>T (p.(Ser606Leu)) - TAF6_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-6242G>A r.(?) p.(=) Unknown - VUS g.99705159C>T - AP4M1(NM_004722.4):c.*654C>T - AP4M1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-6065A>G r.(?) p.(=) Unknown - VUS g.99704982T>C g.100107359T>C TAF6(NM_001190415.1):c.2032A>G (p.(Ser678Gly)) - TAF6_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5570G>A r.(?) p.(=) Unknown - likely benign g.99704487C>T g.100106864C>T AP4M1(NM_004722.3):c.1344C>T (p.A448=) - AP4M1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-5548C>T r.(?) p.(=) Unknown - VUS g.99704465G>A g.100106842G>A AP4M1(NM_004722.3):c.1322G>A (p.R441Q), AP4M1(NM_004722.4):c.1322G>A (p.(Arg441Gln)) - AP4M1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-5548C>T r.(?) p.(=) Unknown - VUS g.99704465G>A - AP4M1(NM_004722.3):c.1322G>A (p.R441Q), AP4M1(NM_004722.4):c.1322G>A (p.(Arg441Gln)) - AP4M1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-5543C>T r.(?) p.(=) Unknown - pathogenic g.99704460G>A g.100106837G>A AP4M1(NM_004722.3):c.1317G>A (p.W439*) - AP4M1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-5531G>A r.(?) p.(=) Unknown - benign g.99704448C>T g.100106825C>T AP4M1(NM_004722.3):c.1305C>T (p.N435=), AP4M1(NM_004722.4):c.1305C>T (p.(Asn435=)) - AP4M1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5531G>A r.(?) p.(=) Unknown - likely benign g.99704448C>T - AP4M1(NM_004722.3):c.1305C>T (p.N435=), AP4M1(NM_004722.4):c.1305C>T (p.(Asn435=)) - AP4M1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-5490G>A r.(?) p.(=) Unknown - pathogenic g.99704407C>T g.100106784C>T - - AP4M1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5366C>T r.(?) p.(=) Unknown - likely benign g.99704283G>A g.100106660G>A AP4M1(NM_004722.3):c.1140G>A (p.M380I) - AP4M1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5236G>A r.(?) p.(=) Unknown - likely benign g.99704153C>T g.100106530C>T AP4M1(NM_004722.3):c.1137+16C>T - AP4M1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-5221C>A r.(?) p.(=) Unknown - pathogenic g.99704138G>T g.100106515G>T AP4M1(NM_004722.3):c.1137+1G>T, AP4M1(NM_004722.4):c.1137+1G>T - AP4M1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-5221C>A r.(?) p.(=) Unknown - pathogenic g.99704138G>T g.100106515G>T AP4M1(NM_004722.3):c.1137+1G>T, AP4M1(NM_004722.4):c.1137+1G>T - AP4M1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-5221C>A r.(?) p.(=) Unknown - pathogenic g.99704138G>T g.100106515G>T AP4M1(NM_004722.3):c.1137+1G>T, AP4M1(NM_004722.4):c.1137+1G>T - AP4M1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-5221C>A r.(?) p.(=) Unknown - pathogenic g.99704138G>T - AP4M1(NM_004722.3):c.1137+1G>T, AP4M1(NM_004722.4):c.1137+1G>T - AP4M1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-5221C>A r.(?) p.(=) Unknown - pathogenic g.99704138G>T - AP4M1(NM_004722.3):c.1137+1G>T, AP4M1(NM_004722.4):c.1137+1G>T - AP4M1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-5183C>T r.(?) p.(=) Unknown - VUS g.99704100G>A g.100106477G>A - - AP4M1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-5143C>T r.(?) p.(=) Unknown - VUS g.99704060G>A - AP4M1(NM_004722.3):c.1060G>A (p.A354T) - AP4M1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-4984G>A r.(?) p.(=) Unknown - pathogenic g.99703901C>T g.100106278C>T AP4M1(NM_004722.3):c.1012C>T (p.R338*), AP4M1(NM_004722.4):c.1012C>T (p.(Arg338*)) - AP4M1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-4984G>A r.(?) p.(=) Unknown - pathogenic g.99703901C>T g.100106278C>T AP4M1(NM_004722.3):c.1012C>T (p.R338*), AP4M1(NM_004722.4):c.1012C>T (p.(Arg338*)) - AP4M1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-4984G>A r.(?) p.(=) Unknown - pathogenic g.99703901C>T - AP4M1(NM_004722.3):c.1012C>T (p.R338*), AP4M1(NM_004722.4):c.1012C>T (p.(Arg338*)) - AP4M1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4974G>A r.(?) p.(=) Unknown - likely benign g.99703891C>T g.100106268C>T AP4M1(NM_004722.3):c.1002C>T (p.L334=), AP4M1(NM_004722.4):c.1002C>T (p.(Leu334=)) - AP4M1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4974G>A r.(?) p.(=) Unknown - benign g.99703891C>T - AP4M1(NM_004722.3):c.1002C>T (p.L334=), AP4M1(NM_004722.4):c.1002C>T (p.(Leu334=)) - AP4M1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4933G>A r.(?) p.(=) Unknown - benign g.99703850C>T g.100106227C>T AP4M1(NM_004722.3):c.975-14C>T - AP4M1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4695G>A r.(?) p.(=) Unknown - likely benign g.99703612C>T - AP4M1(NM_004722.3):c.960C>T (p.D320=) - AP4M1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-4690A>G r.(?) p.(=) Unknown - likely pathogenic g.99703607T>C - AP4M1(NM_004722.4):c.955T>C (p.C319R) - AP4M1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4688C>T r.(?) p.(=) Unknown - VUS g.99703605G>A g.100105982G>A AP4M1(NM_004722.3):c.953G>A (p.R318Q) - AP4M1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-4687G>A r.(?) p.(=) Unknown - pathogenic g.99703604C>T g.100105981C>T AP4M1(NM_004722.3):c.952C>T (p.(Arg318*)), AP4M1(NM_004722.4):c.952C>T (p.R318*) - AP4M1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-4687G>A r.(?) p.(=) Unknown - pathogenic g.99703604C>T - AP4M1(NM_004722.3):c.952C>T (p.(Arg318*)), AP4M1(NM_004722.4):c.952C>T (p.R318*) - AP4M1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-4687G>A r.(?) p.(=) Unknown - pathogenic g.99703604C>T - AP4M1(NM_004722.3):c.952C>T (p.(Arg318*)), AP4M1(NM_004722.4):c.952C>T (p.R318*) - AP4M1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4665C>T r.(?) p.(=) Unknown - likely benign g.99703582G>A g.100105959G>A AP4M1(NM_004722.3):c.930G>A (p.R310=), AP4M1(NM_004722.4):c.930G>A (p.R310=) - AP4M1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4665C>T r.(?) p.(=) Unknown - likely benign g.99703582G>A - AP4M1(NM_004722.3):c.930G>A (p.R310=), AP4M1(NM_004722.4):c.930G>A (p.R310=) - AP4M1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4236C>G r.(?) p.(=) Unknown - VUS g.99703153G>C g.100105530G>C AP4M1(NM_004722.3):c.920G>C (p.G307A) - AP4M1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4236C>G r.(?) p.(=) Unknown - VUS g.99703153G>C - AP4M1(NM_004722.3):c.920G>C (p.G307A) - AP4M1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-4232G>A r.(?) p.(=) Unknown - pathogenic g.99703149C>T g.100105526C>T - - AP4M1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4042G>A r.(?) p.(=) Unknown - VUS g.99702959C>T - AP4M1(NM_004722.4):c.824C>T (p.(Pro275Leu)) - AP4M1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4030C>T r.(?) p.(=) Unknown - benign g.99702947G>A g.100105324G>A AP4M1(NM_004722.3):c.812G>A (p.R271H) - AP4M1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3989G>A r.(?) p.(=) Unknown - likely benign g.99702906C>T - AP4M1(NM_004722.3):c.771C>T (p.S257=) - AP4M1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3979G>A r.(?) p.(=) Unknown - VUS g.99702896C>T g.100105273C>T AP4M1(NM_004722.3):c.761C>T (p.(Ser254Leu)) - AP4M1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3944T>G r.(?) p.(=) Unknown - VUS g.99702861A>C - AP4M1(NM_004722.3):c.728-2A>C (p.?) - AP4M1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3791C>T r.(?) p.(=) Unknown - likely benign g.99702708G>A g.100105085G>A AP4M1(NM_004722.3):c.714G>A (p.K238=) - AP4M1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3745G>A r.(?) p.(=) Unknown - likely benign g.99702662C>T g.100105039C>T AP4M1(NM_004722.3):c.674-6C>T (p.(=)) - AP4M1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-3649C>A r.(?) p.(=) Unknown - likely pathogenic g.99702566G>T g.100104943G>T - - AP4M1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3639G>A r.(?) p.(=) Unknown - likely benign g.99702556C>T g.100104933C>T AP4M1(NM_004722.3):c.666C>T (p.S222=) - AP4M1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3581C>T r.(?) p.(=) Unknown - VUS g.99702498G>A g.100104875G>A AP4M1(NM_004722.4):c.608G>A (p.(Gly203Glu)) - AP4M1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-2801G>A r.(?) p.(=) Unknown - pathogenic g.99701718C>T g.100104095C>T - - AP4M1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2792A>C r.(?) p.(=) Unknown - VUS g.99701709T>G g.100104086T>G AP4M1(NM_004722.3):c.544-6T>G, AP4M1(NM_004722.4):c.544-6T>G - AP4M1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2792A>C r.(?) p.(=) Unknown - VUS g.99701709T>G g.100104086T>G AP4M1(NM_004722.3):c.544-6T>G, AP4M1(NM_004722.4):c.544-6T>G - AP4M1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2403C>T r.(?) p.(=) Unknown - likely benign g.99701320G>A g.100103697G>A AP4M1(NM_004722.3):c.543+5G>A - AP4M1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-2396G>A r.(?) p.(=) Unknown - pathogenic g.99701313C>T g.100103690C>T - - AP4M1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2375C>T r.(?) p.(=) Unknown - VUS g.99701292G>A - AP4M1(NM_004722.4):c.520G>A (p.(Val174Ile)) - AP4M1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2357T>G r.(?) p.(=) Unknown - likely benign g.99701274A>C g.100103651A>C AP4M1(NM_004722.3):c.502A>C (p.(Ser168Arg)) - AP4M1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2346A>G r.(?) p.(=) Unknown - VUS g.99701263T>C - AP4M1(NM_004722.3):c.491T>C (p.V164A) - AP4M1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2217C>T r.(?) p.(=) Unknown - VUS g.99701134G>A - AP4M1(NM_004722.3):c.454G>A (p.(Val152Ile)) - AP4M1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1609G>A r.(?) p.(=) Unknown - VUS g.99700526C>T g.100102903C>T AP4M1(NM_004722.3):c.294C>T (p.G98=) - AP4M1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-1554G>A r.(?) p.(=) Unknown - benign g.99700471C>T g.100102848C>T AP4M1(NM_004722.3):c.255-16C>T - AP4M1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1461G>A r.(?) p.(=) Unknown - likely benign g.99700378C>T g.100102755C>T AP4M1(NM_004722.3):c.228C>T (p.P76=) - AP4M1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-709A>G r.(?) p.(=) Unknown - benign g.99699626T>C g.100102003T>C AP4M1(NM_004722.4):c.147+35T>C - AP4M1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-663G>C r.(?) p.(=) Unknown - VUS g.99699580C>G g.100101957C>G AP4M1(NM_004722.3):c.136C>G (p.P46A), AP4M1(NM_004722.4):c.136C>G (p.(Pro46Ala)) - AP4M1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-663G>C r.(?) p.(=) Unknown - VUS g.99699580C>G - AP4M1(NM_004722.3):c.136C>G (p.P46A), AP4M1(NM_004722.4):c.136C>G (p.(Pro46Ala)) - AP4M1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-663G>C r.(?) p.(=) Unknown - VUS g.99699580C>G - AP4M1(NM_004722.3):c.136C>G (p.P46A), AP4M1(NM_004722.4):c.136C>G (p.(Pro46Ala)) - AP4M1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-572G>C r.(?) p.(=) Unknown - benign g.99699489C>G g.100101866C>G AP4M1(NM_004722.3):c.59-14C>G - AP4M1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-490G>A r.(?) p.(=) Unknown - benign g.99699407C>T g.100101784C>T - - AP4M1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-252T>A r.(?) p.(=) Unknown - benign g.99699169A>T g.100101546A>T - - AP4M1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.66G>T r.(?) p.(Gln22His) Unknown - VUS g.99697682C>A - MCM7(NM_005916.4):c.66G>T (p.Q22H) - AP4M1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.277-2A>T r.spl? p.? Unknown - likely benign g.99697028T>A g.100099405T>A MCM7(NM_001278595.1):c.-327-2A>T (p.(=)) - AP4M1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.697C>T r.(?) p.(Gln233Ter) Unknown - VUS g.99696224G>A g.100098601G>A MCM7(NM_001278595.1):c.169C>T (p.(Gln57Ter)) - MCM7_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.793G>A r.(?) p.(Ala265Thr) Both (homozygous) - pathogenic (recessive) g.99695841C>T g.100098218C>T - - MCM7_000006 - PubMed: Ravindran 2022 - - Germline yes - - - - DNA SEQ - WES ? family PubMed: Ravindran 2022 4-generation family, 3 affected sibs (F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan Kashmir - - - - 3 Johan den Dunnen
-?/. - c.847A>G r.(?) p.(Thr283Ala) Unknown - likely benign g.99695787T>C - MCM7(NM_005916.4):c.847A>G (p.(Thr283Ala)) - AP4M1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1245G>C r.(?) p.(Thr415=) Unknown - likely benign g.99693747C>G - MCM7(NM_001278595.1):c.717G>C (p.T239=) - AP4M1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3312dup r.(?) p.(=) Unknown - VUS g.99687246dup - COPS6(NM_006833.4):c.211dupG (p.(Ala71fs)) - AP4M1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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