Full data view for gene FAS

Information The variants shown are described using the NM_000043.4 transcript reference sequence.

151 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.-55841G>T r.(?) p.(=) Unknown - benign g.90694793G>T g.88935036G>T ACTA2(NM_001141945.2):c.*187C>A - ACTA2-AS1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-55640G>A r.(?) p.(=) Unknown - likely pathogenic g.90694994G>A g.88935237G>A ACTA2(NM_001141945.2):c.1120C>T (p.R374C), ACTA2(NM_001613.2):c.1120C>T (p.R374C) - FAS_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-55640G>A r.(?) p.(=) Unknown - VUS g.90694994G>A - ACTA2(NM_001141945.2):c.1120C>T (p.R374C), ACTA2(NM_001613.2):c.1120C>T (p.R374C) - FAS_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-55589T>C r.(?) p.(=) Unknown - VUS g.90695045T>C g.88935288T>C ACTA2(NM_001141945.2):c.1069A>G (p.M357V), ACTA2(NM_001613.2):c.1069A>G (p.(Met357Val)) - ACTA2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-55589T>C r.(?) p.(=) Unknown - VUS g.90695045T>C - ACTA2(NM_001141945.2):c.1069A>G (p.M357V), ACTA2(NM_001613.2):c.1069A>G (p.(Met357Val)) - ACTA2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-55549G>A r.(?) p.(=) Unknown - likely benign g.90695085G>A g.88935328G>A ACTA2(NM_001141945.1):c.1029C>T (p.I343=) - FAS_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-55543G>A r.(?) p.(=) Unknown - likely benign g.90695091G>A g.88935334G>A ACTA2(NM_001141945.1):c.1023C>T (p.V341=) - ACTA2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-55539G>C r.(?) p.(=) Unknown - VUS g.90695095G>C - ACTA2(NM_001613.2):c.1019C>G (p.(Ser340Cys)) - FAS_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-55538_-55537del r.(?) p.(=) Unknown - pathogenic g.90695096_90695097del g.88935339_88935340del ACTA2(NM_001141945.2):c.1019_1020delCT (p.S340Cfs*26) - ACTA2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-55530C>T r.(?) p.(=) Unknown - VUS g.90695104C>T - ACTA2(NM_001613.2):c.1010G>A (p.R337H) - FAS_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-55524G>C r.(?) p.(=) Unknown - likely pathogenic g.90695110G>C - ACTA2(NM_001141945.2):c.1004C>G (p.P335R) - FAS_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-55507T>G r.(?) p.(=) Unknown - likely benign g.90695127T>G g.88935370T>G ACTA2(NM_001141945.1):c.991-4A>C - ACTA2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-52796G>A r.(?) p.(=) Unknown - VUS g.90697838G>A - ACTA2(NM_001613.4):c.970C>T (p.(Pro324Ser)) - FAS_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-52767C>T r.(?) p.(=) Unknown - VUS g.90697867C>T - ACTA2(NM_001613.4):c.941G>A (p.(Arg314Gln)) - FAS_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-52732del r.(?) p.(=) Unknown - likely pathogenic g.90697902del - - - FAS_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-52692A>G r.(?) p.(=) Unknown - VUS g.90697942A>G - ACTA2(NM_001141945.2):c.866T>C (p.I289T) - FAS_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-52681C>G r.(?) p.(=) Unknown - VUS g.90697953C>G - ACTA2(NM_001613.2):c.855G>C (p.M285I) - FAS_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-52680A>G r.(?) p.(=) Unknown - likely pathogenic g.90697954A>G g.88938197A>G ACTA2(NM_001141945.2):c.854T>C (p.M285T) - ACTA2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-52661T>C r.(?) p.(=) Unknown - likely pathogenic g.90697973T>C g.88938216T>C ACTA2(NM_001141945.2):c.835A>G (p.T279A) - FAS_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-52636C>A r.(?) p.(=) Unknown - pathogenic g.90697998C>A - ACTA2(NM_001141945.2):c.810G>T (p.G270=) - FAS_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-52631G>C r.(?) p.(=) Unknown - likely benign g.90698003G>C g.88938246G>C - - FAS_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-52474A>C r.(?) p.(=) Unknown - likely benign g.90698160A>C - ACTA2(NM_001141945.2):c.809-161T>G - FAS_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-51376G>A r.(?) p.(=) Unknown - likely benign g.90699258G>A - ACTA2(NM_001613.4):c.808+6C>T - FAS_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-51370C>T r.(?) p.(=) Unknown - pathogenic g.90699264C>T g.88939507C>T ACTA2(NM_001613.2):c.808G>A (p.G270R) - ACTA2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-51363G>A r.(?) p.(=) Unknown - likely benign g.90699271G>A - ACTA2(NM_001141945.2):c.801C>T (p.S267=) - FAS_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-51334G>A r.(?) p.(=) Unknown - pathogenic g.90699300G>A - ACTA2(NM_001141945.2):c.772C>T (p.R258C) - FAS_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-51319C>T r.(?) p.(=) Unknown - VUS g.90699315C>T g.88939558C>T ACTA2(NM_001613.2):c.757G>A (p.G253R), ACTA2(NM_001613.4):c.757G>A (p.G253R) - FAS_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-51319C>T r.(?) p.(=) Unknown - VUS g.90699315C>T - ACTA2(NM_001613.2):c.757G>A (p.G253R), ACTA2(NM_001613.4):c.757G>A (p.G253R) - FAS_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-51296G>A r.(?) p.(=) Unknown - likely pathogenic g.90699338G>A g.88939581G>A ACTA2(NM_001141945.2):c.734C>T (p.P245L) - FAS_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-51291C>T r.(?) p.(=) Unknown - likely benign g.90699343C>T g.88939586C>T ACTA2(NM_001141945.2):c.729G>A (p.E243=) - FAS_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-51289C>T r.(?) p.(=) Unknown - likely pathogenic g.90699345C>T - ACTA2(NM_001141945.2):c.727G>A (p.E243K) - FAS_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-51197C>T r.(?) p.(=) Unknown - pathogenic g.90699437C>T g.88939680C>T - - ACTA2_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-51185C>T r.(?) p.(=) Unknown - VUS g.90699449C>T g.88939692C>T ACTA2(NM_001141945.2):c.623G>A (p.R208H) - ACTA2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-49839_-49837del r.(?) p.(=) Unknown - benign g.90700795_90700797del g.88941038_88941040del ACTA2(NM_001141945.2):c.616+192_616+194delGAG - FAS_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-49639C>G r.(?) p.(=) Unknown - VUS g.90700995C>G g.88941238C>G ACTA2(NM_001141945.2):c.607G>C (p.V203L) - ACTA2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-49623C>G r.(?) p.(=) Unknown - VUS g.90701011C>G - ACTA2(NM_001613.2):c.591G>C (p.E197D) - FAS_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-49619G>T r.(?) p.(=) Unknown - likely pathogenic g.90701015G>T g.88941258G>T - - FAS_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-49586C>T r.(?) p.(=) Unknown - pathogenic g.90701048C>T - ACTA2(NM_001141945.2):c.554G>A (p.R185Q) - FAS_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-49585G>A r.(?) p.(=) Unknown - likely pathogenic g.90701049G>A g.88941292G>A ACTA2(NM_001141945.1):c.553C>T (p.(Arg185Ter)), ACTA2(NM_001613.2):c.553C>T (p.R185*) - ACTA2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-49585G>A r.(?) p.(=) Unknown - VUS g.90701049G>A g.88941292G>A ACTA2(NM_001141945.1):c.553C>T (p.(Arg185Ter)), ACTA2(NM_001613.2):c.553C>T (p.R185*) - ACTA2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-49568C>T r.(?) p.(=) Unknown - pathogenic g.90701066C>T g.88941309C>T ACTA2(NM_001141945.2):c.536G>A (p.R179H), ACTA2(NM_001613.2):c.536G>A (p.R179H) - ACTA2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-49568C>T r.(?) p.(=) Unknown - pathogenic g.90701066C>T g.88941309C>T ACTA2(NM_001141945.2):c.536G>A (p.R179H), ACTA2(NM_001613.2):c.536G>A (p.R179H) - ACTA2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-49567G>A r.(?) p.(=) Unknown - pathogenic g.90701067G>A g.88941310G>A ACTA2(NM_001613.2):c.535C>T (p.R179C) - ACTA2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-49558C>T r.(?) p.(=) Unknown - likely pathogenic g.90701076C>T g.88941319C>T ACTA2(NM_001141945.2):c.526G>A (p.A176T) - FAS_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-49555G>C r.(?) p.(=) Unknown - likely pathogenic g.90701079G>C g.88941322G>C ACTA2(NM_001141945.2):c.523C>G (p.H175D), ACTA2(NM_001613.2):c.523C>G (p.H175D) - ACTA2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-49555G>C r.(?) p.(=) Unknown - VUS g.90701079G>C g.88941322G>C ACTA2(NM_001141945.2):c.523C>G (p.H175D), ACTA2(NM_001613.2):c.523C>G (p.H175D) - ACTA2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-49517G>T r.(?) p.(=) Unknown - VUS g.90701117G>T g.88941360G>T ACTA2(NM_001613.2):c.485C>A (p.T162N) - FAS_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-49503A>G r.(?) p.(=) Unknown - likely benign g.90701131A>G g.88941374A>G ACTA2(NM_001613.2):c.471T>C (p.S157=) - ACTA2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-49497C>T r.(?) p.(=) Unknown - likely benign g.90701137C>T g.88941380C>T ACTA2(NM_001141945.2):c.465G>A (p.L155=) - ACTA2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-49482G>A r.(?) p.(=) Unknown - likely benign g.90701152G>A - ACTA2(NM_001613.2):c.455-5C>T - FAS_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-49470C>T r.(?) p.(=) Unknown - benign g.90701164C>T g.88941407C>T ACTA2(NM_001141945.2):c.455-17G>A, ACTA2(NM_001613.2):c.455-17G>A - ACTA2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-49470C>T r.(?) p.(=) Unknown - benign g.90701164C>T g.88941407C>T ACTA2(NM_001141945.2):c.455-17G>A, ACTA2(NM_001613.2):c.455-17G>A - ACTA2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-49470C>T r.(?) p.(=) Unknown - benign g.90701164C>T g.88941407C>T ACTA2(NM_001141945.2):c.455-17G>A, ACTA2(NM_001613.2):c.455-17G>A - ACTA2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-49413G>A r.(?) p.(=) Unknown - benign g.90701221G>A g.88941464G>A ACTA2(NM_001141945.2):c.455-74C>T - ACTA2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-49157C>T r.(?) p.(=) Unknown - benign g.90701477C>T g.88941720C>T ACTA2(NM_001141945.2):c.454+65G>A - ACTA2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-49083G>A r.(?) p.(=) Unknown - likely pathogenic g.90701551G>A g.88941794G>A ACTA2(NM_001141945.2):c.445C>T (p.R149C), ACTA2(NM_001613.2):c.445C>T (p.R149C) - ACTA2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-49083G>A r.(?) p.(=) Unknown - pathogenic g.90701551G>A g.88941794G>A ACTA2(NM_001141945.2):c.445C>T (p.R149C), ACTA2(NM_001613.2):c.445C>T (p.R149C) - ACTA2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-49077A>G r.(?) p.(=) Unknown - benign g.90701557A>G g.88941800A>G ACTA2(NM_001613.2):c.439T>C (p.S147P) - ACTA2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-49057G>A r.(?) p.(=) Unknown - likely pathogenic g.90701577G>A g.88941820G>A ACTA2(NM_001141945.2):c.419C>T (p.A140V) - FAS_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-49055C>T r.(?) p.(=) Unknown - likely benign g.90701579C>T g.88941822C>T ACTA2(NM_001141945.2):c.417G>A (p.Q139=), ACTA2(NM_001613.2):c.417G>A (p.Q139=) - FAS_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-49055C>T r.(?) p.(=) Unknown - likely benign g.90701579C>T - ACTA2(NM_001141945.2):c.417G>A (p.Q139=), ACTA2(NM_001613.2):c.417G>A (p.Q139=) - FAS_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-49047C>T r.(?) p.(=) Unknown - VUS g.90701587C>T g.88941830C>T ACTA2(NM_001613.2):c.409G>A (p.A137T) - FAS_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-49039A>G r.(?) p.(=) Unknown - VUS g.90701595A>G - ACTA2(NM_001141945.2):c.401T>C (p.M134T) - FAS_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-49019C>G r.(?) p.(=) Unknown - VUS g.90701615C>G - ACTA2(NM_001141945.2):c.381G>C (p.E127D) - FAS_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-48989A>G r.(?) p.(=) Unknown - benign g.90701645A>G g.88941888A>G ACTA2(NM_001141945.2):c.370-19T>C, ACTA2(NM_001141945.3):c.370-19T>C, ACTA2(NM_001613.2):c.370-19T>C - ACTA2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-48989A>G r.(?) p.(=) Unknown - benign g.90701645A>G g.88941888A>G ACTA2(NM_001141945.2):c.370-19T>C, ACTA2(NM_001141945.3):c.370-19T>C, ACTA2(NM_001613.2):c.370-19T>C - ACTA2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-48989A>G r.(?) p.(=) Unknown - benign g.90701645A>G g.88941888A>G ACTA2(NM_001141945.2):c.370-19T>C, ACTA2(NM_001141945.3):c.370-19T>C, ACTA2(NM_001613.2):c.370-19T>C - ACTA2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-47188G>A r.(?) p.(=) Unknown - benign g.90703446G>A g.88943689G>A ACTA2(NM_001141945.2):c.369+108C>T - ACTA2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-47169C>T r.(?) p.(=) Unknown - benign g.90703465C>T g.88943708C>T ACTA2(NM_001141945.2):c.369+89G>A - ACTA2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-47110C>G r.(?) p.(=) Unknown - benign g.90703524C>G g.88943767C>G ACTA2(NM_001141945.2):c.369+30G>C, ACTA2(NM_001613.2):c.369+30G>C - ACTA2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-47110C>G r.(?) p.(=) Unknown - benign g.90703524C>G g.88943767C>G ACTA2(NM_001141945.2):c.369+30G>C, ACTA2(NM_001613.2):c.369+30G>C - ACTA2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-47064C>T r.(?) p.(=) Unknown - pathogenic g.90703570C>T - ACTA2(NM_001141945.1):c.353G>A (p.R118Q) - FAS_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-47034G>A r.(?) p.(=) Unknown - VUS g.90703600G>A g.88943843G>A ACTA2(NM_001141945.2):c.323C>T (p.T108M) - FAS_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-47007G>C r.(?) p.(=) Unknown - VUS g.90703627G>C g.88943870G>C ACTA2(NM_001141945.2):c.296C>G (p.A99G) - ACTA2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-46831del r.(?) p.(=) Unknown - benign g.90703803del g.88944046del ACTA2(NM_001613.2):c.259-136delA - ACTA2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-43893A>C r.(?) p.(=) Unknown - likely benign g.90706741A>C - ACTA2(NM_001141945.2):c.258+274T>G - FAS_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-43624C>A r.(?) p.(=) Unknown - likely benign g.90707010C>A - ACTA2(NM_001141945.2):c.258+5G>T - FAS_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-43540G>T r.(?) p.(=) Unknown - likely pathogenic g.90707094G>T g.88947337G>T ACTA2(NM_001141945.2):c.179C>A (p.A60E) - FAS_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-43536C>T r.(?) p.(=) Unknown - VUS g.90707098C>T g.88947341C>T ACTA2(NM_001613.2):c.175G>A (p.E59K) - FAS_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-43535G>A r.(?) p.(=) Unknown - likely benign g.90707099G>A g.88947342G>A ACTA2(NM_001141945.2):c.174C>T (p.D58=) - ACTA2_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-43526G>A r.(?) p.(=) Unknown - likely benign g.90707108G>A - ACTA2(NM_001141945.2):c.165C>T (p.Y55=) - FAS_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-43494C>T r.(?) p.(=) Unknown - VUS g.90707140C>T g.88947383C>T ACTA2(NM_001613.2):c.133G>A (p.V45M) - ACTA2_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-43466G>A r.(?) p.(=) Unknown - benign g.90707168G>A g.88947411G>A ACTA2(NM_001613.2):c.130-25C>T - ACTA2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-42071T>C r.(?) p.(=) Unknown - VUS g.90708563T>C - ACTA2(NM_001141945.2):c.125A>G (p.H42R) - FAS_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-42062C>T r.(?) p.(=) Unknown - pathogenic g.90708572C>T g.88948815C>T ACTA2(NM_001141945.2):c.116G>A (p.R39H) - ACTA2_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-42061G>A r.(?) p.(=) Unknown - pathogenic g.90708573G>A g.88948816G>A ACTA2(NM_001141945.2):c.115C>T (p.R39C) - ACTA2_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-42061G>A r.(?) p.(=) Unknown - pathogenic g.90708573G>A g.88948816G>A ACTA2(NM_001141945.2):c.115C>T (p.R39C) - ACTA2_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-42053A>G r.(?) p.(=) Unknown - VUS g.90708581A>G g.88948824A>G ACTA2(NM_001141945.2):c.107T>C (p.I36T) - FAS_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-41988A>G r.(?) p.(=) Unknown - likely benign g.90708646A>G g.88948889A>G ACTA2(NM_001141945.2):c.42T>C (p.N14=) - ACTA2_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-41966C>T r.(?) p.(=) Unknown - VUS g.90708668C>T g.88948911C>T - - FAS_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-41963T>C r.(?) p.(=) Unknown - VUS g.90708671T>C - ACTA2(NM_001613.4):c.17A>G (p.(Asp6Gly)) - FAS_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-41959C>G r.(?) p.(=) Unknown - VUS g.90708675C>G g.88948918C>G ACTA2(NM_001141945.2):c.13G>C (p.E5Q) - ACTA2_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-34A>G r.(=) p.(=) Parent #1 - likely benign g.90750600A>G g.88990843A>G - - FAS_000072 80 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs5030766 Germline - 80/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 80 Mohammed Faruq
-?/. - c.-34A>G r.(=) p.(=) Both (homozygous) - likely benign g.90750600A>G g.88990843A>G - - FAS_000072 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs5030766 Germline - 1/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.30+3G>C r.spl? p.? Unknown - likely benign g.90750666G>C g.88990909G>C - - FAS_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.46G>A r.(?) p.(Ala16Thr) Unknown - benign g.90762801G>A g.89003044G>A FAS(NM_000043.4):c.46G>A (p.A16T), FAS(NM_000043.6):c.46G>A (p.A16T) - FAS_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.46G>A r.(?) p.(Ala16Thr) Unknown - likely benign g.90762801G>A g.89003044G>A FAS(NM_000043.4):c.46G>A (p.A16T), FAS(NM_000043.6):c.46G>A (p.A16T) - FAS_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.103T>C r.(?) p.(Leu35=) Unknown - benign g.90762858T>C g.89003101T>C FAS(NM_152872.3):c.103T>C (p.L35=) - FAS_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.139C>T r.(?) p.(Gln47Ter) Unknown - pathogenic g.90762894C>T g.89003137C>T FAS(NM_000043.4):c.139C>T (p.Q47*) - FAS_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.141G>A r.(?) p.(Gln47=) Unknown - benign g.90762896G>A - FAS(NM_000043.6):c.141G>A (p.Q47=) - FAS_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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