Full data view for gene SCYL1

Information The variants shown are described using the NM_020680.3 transcript reference sequence.

204 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     
-?/. - c.75G>A r.(?) p.(Leu25=) Unknown - likely benign g.65292699G>A - SCYL1(NM_020680.3):c.75G>A (p.L25=) - SCYL1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.445G>A r.(?) p.(Val149Met) Unknown - VUS g.65293664G>A - SCYL1(NM_020680.3):c.445G>A (p.V149M) - LTBP3_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.459C>T r.(459c>u) p.(Gly153=) Unknown - pathogenic g.65293678C>T g.65526207C>T - - SCYL1_000001 curator NOTE: unclear how variants can be pathogenic - - - Germline yes - - - - DNA SEQ-NG - - SCA21 P09182 - - M no Israel Jewish-Ashkenazi - - - - 2 Lior Cohen
+/. 4 c.459C>T r.spl? p.(Gly153=) Unknown - pathogenic g.65293678C>T g.65526207C>T 459C>T (Gly153Gly) - SCYL1_000001 - - - - Germline yes - - - - DNA SEQ-NG - - IIAE2 IY-8543 - - M no Israel - - - - - 1 Lior Cohen
?/. - c.650A>G r.(?) p.(Asn217Ser) Unknown - VUS g.65294301A>G g.65526830A>G SCYL1(NM_020680.3):c.650A>G (p.N217S) - LTBP3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.803T>C r.(?) p.(Met268Thr) Unknown - likely benign g.65294542T>C g.65527071T>C SCYL1(NM_001048218.1):c.803T>C (p.(Met268Thr)) - LTBP3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.804G>A r.(?) p.(Met268Ile) Unknown - likely benign g.65294543G>A - SCYL1(NM_020680.3):c.804G>A (p.M268I) - LTBP3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.895A>G r.(?) p.(Lys299Glu) Unknown - likely benign g.65298145A>G g.65530674A>G SCYL1(NM_020680.3):c.895A>G (p.K299E), SCYL1(NM_020680.4):c.895A>G (p.K299E) - LTBP3_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.895A>G r.(?) p.(Lys299Glu) Unknown - likely benign g.65298145A>G - SCYL1(NM_020680.3):c.895A>G (p.K299E), SCYL1(NM_020680.4):c.895A>G (p.K299E) - LTBP3_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.963C>T r.(?) p.(Phe321=) Unknown - likely benign g.65298213C>T g.65530742C>T SCYL1(NM_020680.3):c.963C>T (p.F321=) - LTBP3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1046_1048del r.(?) p.(Lys349del) Unknown - VUS g.65299084_65299086del - SCYL1(NM_020680.4):c.1046_1048del (p.(Lys349del)) - SCYL1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1110G>A r.(?) p.(=) Unknown - likely benign g.65299148G>A - SCYL1(NM_020680.4):c.1110G>A (p.(Leu370=)) - SCYL1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1652-8C>T r.(=) p.(=) Unknown - likely benign g.65304049C>T g.65536578C>T SCYL1(NM_020680.3):c.1652-8C>T, SCYL1(NM_020680.4):c.1652-8C>T - LTBP3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1652-8C>T r.(=) p.(=) Unknown - likely benign g.65304049C>T - SCYL1(NM_020680.3):c.1652-8C>T, SCYL1(NM_020680.4):c.1652-8C>T - LTBP3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1880C>T r.(?) p.(Thr627Met) Unknown - likely benign g.65304520C>T g.65537049C>T SCYL1(NM_020680.3):c.1880C>T (p.T627M) - LTBP3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2005G>A r.(?) p.(Gly669Arg) Unknown - VUS g.65305325G>A - SCYL1(NM_020680.4):c.2005G>A (p.(Gly669Arg)) - SCYL1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2044G>A r.(?) p.(Asp682Asn) Unknown - likely benign g.65305450G>A - SCYL1(NM_020680.3):c.2044G>A (p.D682N) - LTBP3_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2158C>T r.(?) p.(Arg720Trp) Unknown - likely benign g.65305564C>T g.65538093C>T SCYL1(NM_020680.3):c.2158C>T (p.R720W), SCYL1(NM_020680.4):c.2158C>T (p.(Arg720Trp)) - LTBP3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2158C>T r.(?) p.(Arg720Trp) Unknown - VUS g.65305564C>T - SCYL1(NM_020680.3):c.2158C>T (p.R720W), SCYL1(NM_020680.4):c.2158C>T (p.(Arg720Trp)) - LTBP3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2228C>G r.(?) p.(Ser743Cys) Unknown - likely benign g.65305634C>G - SCYL1(NM_020680.3):c.2228C>G (p.S743C) - LTBP3_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*514_*522del r.(=) p.(=) Unknown - likely pathogenic g.65306551_65306559del - LTBP3(NM_001130144.3):c.3910_*6del (p.(Ter1304ArgextTer9)) - SCYL1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*514_*522dup r.(=) p.(=) Unknown - likely benign g.65306551_65306559dup - LTBP3(NM_001130144.3):c.*6_*7insTGACGCCGC - SCYL1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*551C>T r.(=) p.(=) Unknown - VUS g.65306588C>T - LTBP3(NM_001130144.2):c.3875G>A (p.R1292H) - LTBP3_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*567C>T r.(=) p.(=) Unknown - VUS g.65306604C>T g.65539133C>T LTBP3(NM_001130144.2):c.3859G>A (p.G1287S), LTBP3(NM_001130144.3):c.3859G>A (p.(Gly1287Ser), p.G1287S) - LTBP3_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*567C>T r.(=) p.(=) Unknown - VUS g.65306604C>T - LTBP3(NM_001130144.2):c.3859G>A (p.G1287S), LTBP3(NM_001130144.3):c.3859G>A (p.(Gly1287Ser), p.G1287S) - LTBP3_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*567C>T r.(=) p.(=) Unknown - likely benign g.65306604C>T - LTBP3(NM_001130144.2):c.3859G>A (p.G1287S), LTBP3(NM_001130144.3):c.3859G>A (p.(Gly1287Ser), p.G1287S) - LTBP3_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*567C>T r.(=) p.(=) Unknown - VUS g.65306604C>T - LTBP3(NM_001130144.2):c.3859G>A (p.G1287S), LTBP3(NM_001130144.3):c.3859G>A (p.(Gly1287Ser), p.G1287S) - LTBP3_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*592G>A r.(=) p.(=) Unknown - likely benign g.65306629G>A - LTBP3(NM_001130144.3):c.3834C>T (p.G1278=) - SCYL1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*602T>C r.(=) p.(=) Unknown - VUS g.65306639T>C - LTBP3(NM_001130144.2):c.3824A>G (p.(Asn1275Ser)) - SCYL1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*618T>A r.(=) p.(=) Unknown - VUS g.65306655T>A - LTBP3(NM_001130144.3):c.3808A>T (p.S1270C) - SCYL1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*618T>A r.(=) p.(=) Unknown - VUS g.65306655T>A - LTBP3(NM_001130144.3):c.3808A>T (p.S1270C) - SCYL1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*649_*650del r.(=) p.(=) Unknown - likely pathogenic g.65306686_65306687del - LTBP3(NM_001130144.3):c.3779_3780delAG (p.E1260Afs*89) - SCYL1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*649_*650del r.(=) p.(=) Unknown - VUS g.65306686_65306687del - LTBP3(NM_001130144.3):c.3779_3780delAG (p.E1260Afs*89) - SCYL1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*656T>C r.(=) p.(=) Unknown - VUS g.65306693T>C - LTBP3(NM_001130144.2):c.3770A>G (p.E1257G) - SCYL1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*678G>A r.(=) p.(=) Unknown - likely benign g.65306715G>A - LTBP3(NM_001130144.3):c.3761-13C>T - SCYL1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*680G>A r.(=) p.(=) Unknown - likely benign g.65306717G>A g.65539246G>A LTBP3(NM_001130144.2):c.3761-15C>T, LTBP3(NM_001130144.3):c.3761-15C>T - LTBP3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*680G>A r.(=) p.(=) Unknown - likely benign g.65306717G>A - LTBP3(NM_001130144.2):c.3761-15C>T, LTBP3(NM_001130144.3):c.3761-15C>T - LTBP3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*748G>C r.(=) p.(=) Unknown - likely benign g.65306785G>C - LTBP3(NM_001130144.2):c.3760+14C>G - SCYL1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*781G>A r.(=) p.(=) Unknown - likely benign g.65306818G>A g.65539347G>A LTBP3(NM_001130144.2):c.3741C>T (p.A1247=), LTBP3(NM_001130144.3):c.3741C>T (p.A1247=) - LTBP3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*781G>A r.(=) p.(=) Unknown - likely benign g.65306818G>A - LTBP3(NM_001130144.2):c.3741C>T (p.A1247=), LTBP3(NM_001130144.3):c.3741C>T (p.A1247=) - LTBP3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*781G>A r.(=) p.(=) Unknown - likely benign g.65306818G>A - LTBP3(NM_001130144.2):c.3741C>T (p.A1247=), LTBP3(NM_001130144.3):c.3741C>T (p.A1247=) - LTBP3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*789G>A r.(=) p.(=) Unknown - VUS g.65306826G>A g.65539355G>A LTBP3(NM_001130144.2):c.3733C>T (p.L1245F) - LTBP3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*822C>T r.(=) p.(=) Unknown - VUS g.65306859C>T - LTBP3(NM_001130144.2):c.3700G>A (p.G1234S) - LTBP3_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*837C>T r.(=) p.(=) Unknown - likely benign g.65306874C>T - LTBP3(NM_001130144.2):c.3685G>A (p.V1229M) - SCYL1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*838G>A r.(=) p.(=) Unknown - likely benign g.65306875G>A - LTBP3(NM_001130144.3):c.3684C>T (p.C1228=) - SCYL1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*874C>T r.(=) p.(=) Unknown - likely benign g.65306911C>T - LTBP3(NM_001130144.3):c.3648G>A (p.E1216=) - SCYL1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1037G>A r.(=) p.(=) Unknown - benign g.65307074G>A - LTBP3(NM_001130144.3):c.3573C>T (p.S1191=) - SCYL1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1046T>C r.(=) p.(=) Unknown - likely benign g.65307083T>C g.65539612T>C LTBP3(NM_001130144.2):c.3564A>G (p.T1188=) - LTBP3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1050G>C r.(=) p.(=) Unknown - VUS g.65307087G>C g.65539616G>C LTBP3(NM_001130144.2):c.3560C>G (p.P1187R) - LTBP3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1071A>G r.(=) p.(=) Unknown - benign g.65307108A>G - LTBP3(NM_001130144.3):c.3548-9T>C - SCYL1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1079T>G r.(=) p.(=) Unknown - likely benign g.65307116T>G - LTBP3(NM_001130144.3):c.3548-17A>C - SCYL1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1182T>C r.(=) p.(=) Unknown - likely benign g.65307219T>C - LTBP3(NM_001130144.2):c.3519A>G (p.Q1173=), LTBP3(NM_001130144.3):c.3519A>G (p.Q1173=) - LTBP3_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1182T>C r.(=) p.(=) Unknown - likely benign g.65307219T>C - LTBP3(NM_001130144.2):c.3519A>G (p.Q1173=), LTBP3(NM_001130144.3):c.3519A>G (p.Q1173=) - LTBP3_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1242G>T r.(=) p.(=) Unknown - VUS g.65307279G>T - LTBP3(NM_001130144.2):c.3459C>A (p.A1153=) - SCYL1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1266G>A r.(=) p.(=) Unknown - likely benign g.65307303G>A g.65539832G>A LTBP3(NM_001130144.2):c.3435C>T (p.D1145=) - LTBP3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1293G>A r.(=) p.(=) Unknown - likely benign g.65307330G>A g.65539859G>A LTBP3(NM_001130144.2):c.3408C>T (p.D1136=), LTBP3(NM_001130144.3):c.3408C>T (p.D1136=) - LTBP3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1293G>A r.(=) p.(=) Unknown - likely benign g.65307330G>A g.65539859G>A LTBP3(NM_001130144.2):c.3408C>T (p.D1136=), LTBP3(NM_001130144.3):c.3408C>T (p.D1136=) - LTBP3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1293G>A r.(=) p.(=) Unknown - likely benign g.65307330G>A - LTBP3(NM_001130144.2):c.3408C>T (p.D1136=), LTBP3(NM_001130144.3):c.3408C>T (p.D1136=) - LTBP3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1319C>T r.(=) p.(=) Unknown - likely benign g.65307356C>T g.65539885C>T LTBP3(NM_001130144.2):c.3386-4G>A, LTBP3(NM_001130144.3):c.3386-4G>A - LTBP3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1319C>T r.(=) p.(=) Unknown - likely benign g.65307356C>T - LTBP3(NM_001130144.2):c.3386-4G>A, LTBP3(NM_001130144.3):c.3386-4G>A - LTBP3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1514G>A r.(=) p.(=) Unknown - VUS g.65307551G>A - - - LTBP3_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1525A>C r.(=) p.(=) Unknown - VUS g.65307562A>C g.65540091A>C LTBP3(NM_001130144.2):c.3307T>G (p.S1103A), LTBP3(NM_001130144.3):c.3307T>G (p.S1103A) - LTBP3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1525A>C r.(=) p.(=) Unknown - VUS g.65307562A>C - LTBP3(NM_001130144.2):c.3307T>G (p.S1103A), LTBP3(NM_001130144.3):c.3307T>G (p.S1103A) - LTBP3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1551G>A r.(=) p.(=) Unknown - VUS g.65307588G>A - LTBP3(NM_001130144.2):c.3281C>T (p.P1094L) - SCYL1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1591C>T r.(=) p.(=) Unknown - likely benign g.65307628C>T g.65540157C>T LTBP3(NM_001130144.2):c.3245-4G>A - LTBP3_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1606T>G r.(=) p.(=) Unknown - likely benign g.65307643T>G g.65540172T>G LTBP3(NM_001130144.2):c.3245-19A>C - LTBP3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1713G>A r.(=) p.(=) Unknown - likely benign g.65307750G>A - LTBP3(NM_001130144.2):c.3210C>T (p.P1070=) - SCYL1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1778C>T r.(=) p.(=) Unknown - VUS g.65307815C>T g.65540344C>T LTBP3(NM_001130144.2):c.3145G>A (p.G1049R), LTBP3(NM_001130144.3):c.3145G>A (p.G1049R) - LTBP3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1778C>T r.(=) p.(=) Unknown - VUS g.65307815C>T - LTBP3(NM_001130144.2):c.3145G>A (p.G1049R), LTBP3(NM_001130144.3):c.3145G>A (p.G1049R) - LTBP3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1778C>T r.(=) p.(=) Unknown - VUS g.65307815C>T - LTBP3(NM_001130144.2):c.3145G>A (p.G1049R), LTBP3(NM_001130144.3):c.3145G>A (p.G1049R) - LTBP3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1805A>C r.(=) p.(=) Unknown - VUS g.65307842A>C - LTBP3(NM_001130144.2):c.3118T>G (p.(Cys1040Gly)) - SCYL1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1834_*1842dup r.(=) p.(=) Unknown - likely benign g.65307871_65307879dup - LTBP3(NM_001130144.3):c.3107-23_3107-15dupACCCACGCT - SCYL1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1906G>T r.(=) p.(=) Unknown - benign g.65307943G>T - LTBP3(NM_001130144.3):c.3106+14C>A - SCYL1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1945G>A r.(=) p.(=) Unknown - likely benign g.65307982G>A g.65540511G>A LTBP3(NM_001130144.2):c.3081C>T (p.Y1027=) - LTBP3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1983G>C r.(=) p.(=) Unknown - VUS g.65308020G>C g.65540549G>C LTBP3(NM_001130144.2):c.3043C>G (p.P1015A) - LTBP3_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1990G>A r.(=) p.(=) Unknown - likely benign g.65308027G>A - LTBP3(NM_001130144.2):c.3036C>T (p.N1012=) - LTBP3_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2010T>G r.(=) p.(=) Unknown - VUS g.65308047T>G - LTBP3(NM_001130144.3):c.3016A>C (p.K1006Q) - SCYL1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2014A>G r.(=) p.(=) Unknown - benign g.65308051A>G - LTBP3(NM_001130144.3):c.3012T>C (p.I1004=) - SCYL1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2221T>C r.(=) p.(=) Unknown - likely benign g.65308258T>C - LTBP3(NM_001130144.3):c.2977+84A>G - SCYL1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2346T>A r.(=) p.(=) Unknown - VUS g.65308383T>A - LTBP3(NM_001130144.2):c.2936A>T (p.Q979L) - SCYL1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2363G>C r.(=) p.(=) Unknown - VUS g.65308400G>C - LTBP3(NM_001130144.3):c.2919C>G (p.(Asp973Glu)) - SCYL1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2369G>A r.(=) p.(=) Unknown - likely benign g.65308406G>A - LTBP3(NM_001130144.2):c.2913C>T (p.C971=), LTBP3(NM_001130144.3):c.2913C>T (p.C971=) - LTBP3_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2369G>A r.(=) p.(=) Unknown - likely benign g.65308406G>A - LTBP3(NM_001130144.2):c.2913C>T (p.C971=), LTBP3(NM_001130144.3):c.2913C>T (p.C971=) - LTBP3_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2369G>A r.(=) p.(=) Unknown - likely benign g.65308406G>A - LTBP3(NM_001130144.2):c.2913C>T (p.C971=), LTBP3(NM_001130144.3):c.2913C>T (p.C971=) - LTBP3_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2397_*2402del r.(=) p.(=) Unknown - VUS g.65308434_65308439del - LTBP3(NM_001130144.2):c.2894-8_2894-3delCCCTGC - LTBP3_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2464C>T r.(=) p.(=) Unknown - likely benign g.65308501C>T - LTBP3(NM_001130144.3):c.2894-76G>A - SCYL1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2505T>C r.(=) p.(=) Unknown - likely benign g.65308542T>C - LTBP3(NM_001130144.3):c.2893+55A>G - SCYL1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2549C>G r.(=) p.(=) Unknown - likely benign g.65308586C>G - LTBP3(NM_001130144.3):c.2893+11G>C - SCYL1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2740C>T r.(=) p.(=) Unknown - benign g.65308777C>T - LTBP3(NM_001130144.2):c.2726-13G>A - SCYL1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3018C>T r.(=) p.(=) Unknown - likely benign g.65309055C>T - LTBP3(NM_001130144.3):c.2725+16G>A - SCYL1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3122G>T r.(=) p.(=) Unknown - likely benign g.65309159G>T - LTBP3(NM_001130144.2):c.2637C>A (p.P879=) - SCYL1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3138G>A r.(=) p.(=) Unknown - VUS g.65309175G>A - LTBP3(NM_001130144.3):c.2621C>T (p.(Pro874Leu)) - SCYL1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4403G>A r.(=) p.(=) Unknown - likely benign g.65310440G>A - LTBP3(NM_001130144.3):c.2596+136C>T - SCYL1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4481C>G r.(=) p.(=) Unknown - likely benign g.65310518C>G - LTBP3(NM_001130144.3):c.2596+58G>C - SCYL1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4625A>G r.(=) p.(=) Unknown - likely benign g.65310662A>G - LTBP3(NM_001130144.2):c.2510T>C (p.(Ile837Thr)) - SCYL1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4633T>C r.(=) p.(=) Unknown - likely benign g.65310670T>C - LTBP3(NM_001130144.2):c.2502A>G (p.A834=) - LTBP3_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4669T>A r.(=) p.(=) Unknown - likely benign g.65310706T>A - LTBP3(NM_001130144.2):c.2477-11A>T, LTBP3(NM_001130144.3):c.2477-11A>T - SCYL1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4669T>A r.(=) p.(=) Unknown - likely benign g.65310706T>A - LTBP3(NM_001130144.2):c.2477-11A>T, LTBP3(NM_001130144.3):c.2477-11A>T - SCYL1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4864C>T r.(=) p.(=) Unknown - VUS g.65310901C>T - LTBP3(NM_001130144.3):c.2473G>A (p.E825K) - SCYL1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4929G>A r.(=) p.(=) Unknown - VUS g.65310966G>A - LTBP3(NM_001130144.2):c.2408C>T (p.(Thr803Met)) - SCYL1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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