Full data view for gene ABCG8

Information The variants shown are described using the NM_022437.2 transcript reference sequence.

409 entries on 5 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.-1409G>A r.(?) p.(=) Unknown - likely benign g.44064784G>A - ABCG5(NM_022436.2):c.265+189C>T - ABCG5_000234 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-1230C>T r.(?) p.(=) Unknown - benign g.44064963C>T g.43837824C>T ABCG5(NM_022436.2):c.265+10G>A, ABCG5(NM_022436.3):c.265+10G>A - ABCG5_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-1230C>T r.(?) p.(=) Unknown - likely benign g.44064963C>T - ABCG5(NM_022436.2):c.265+10G>A, ABCG5(NM_022436.3):c.265+10G>A - ABCG5_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-1207del r.(?) p.(=) Unknown - pathogenic g.44064986del - ABCG5(NM_022436.2):c.253delC (p.L85*) - ABCG5_000287 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-1200A>G r.(?) p.(=) Unknown - likely pathogenic g.44064993A>G g.43837854A>G ABCG5(NM_022436.2):c.245T>C (p.M82T) - ABCG5_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-1197A>G r.(?) p.(=) Unknown - VUS g.44064996A>G g.43837857A>G ABCG5(NM_022436.2):c.242T>C (p.I81T) - ABCG5_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1193G>T r.(?) p.(=) Unknown - VUS g.44065000G>T g.43837861G>T ABCG5(NM_022436.2):c.238C>A (p.Q80K) - ABCG5_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-1190C>T r.(?) p.(=) Unknown - likely pathogenic g.44065003C>T g.43837864C>T ABCG5(NM_022436.2):c.235G>A (p.G79R), ABCG5(NM_022436.3):c.235G>A (p.G79R) - ABCG5_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-1190C>T r.(?) p.(=) Unknown - VUS g.44065003C>T g.43837864C>T ABCG5(NM_022436.2):c.235G>A (p.G79R), ABCG5(NM_022436.3):c.235G>A (p.G79R) - ABCG5_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-1174G>C r.(?) p.(=) Unknown - benign g.44065019G>C g.43837880G>C ABCG5(NM_022436.2):c.219C>G (p.S73=) - ABCG5_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-1139G>T r.(?) p.(=) Unknown - likely benign g.44065054G>T - ABCG5(NM_022436.2):c.184C>A (p.Q62K) - ABCG5_000253 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1137C>T r.(?) p.(=) Unknown - VUS g.44065056C>T g.43837917C>T ABCG5(NM_022436.2):c.182G>A (p.R61Q) - ABCG5_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-1119C>T r.(?) p.(=) Unknown - pathogenic g.44065074C>T - ABCG5(NM_022436.2):c.164G>A (p.W55*) - ABCG5_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-1111_-1091dup r.(?) p.(=) Unknown - likely pathogenic g.44065082_44065102dup - ABCG5(NM_022436.2):c.157_158insTTTAAAGCCACCGCGTGAGGC (p.P53delinsL*) - ABCG5_000288 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-1103G>A r.(?) p.(=) Unknown - benign g.44065090G>A g.43837951G>A ABCG5(NM_022436.2):c.148C>T (p.R50C) - ABCG5_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-774G>A r.(?) p.(=) Unknown - likely benign g.44065419G>A - ABCG5(NM_022436.2):c.143+257C>T - ABCG5_000186 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-517C>T r.(?) p.(=) Unknown - VUS g.44065676C>T - ABCG5(NM_022436.2):c.143G>A (p.S48N) - ABCG5_000254 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-513C>A r.(?) p.(=) Unknown - VUS g.44065680C>A g.43838541C>A ABCG5(NM_022436.2):c.139G>T (p.V47F) - ABCG5_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-513C>T r.(?) p.(=) Unknown - VUS g.44065680C>T g.43838541C>T ABCG5(NM_022436.2):c.139G>A (p.V47I) - ABCG5_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-512G>T r.(?) p.(=) Unknown - VUS g.44065681G>T g.43838542G>T ABCG5(NM_022436.2):c.138C>A (p.S46R) - ABCG5_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-473C>T r.(?) p.(=) Unknown - likely benign g.44065720C>T g.43838581C>T ABCG5(NM_022436.2):c.99G>A (p.P33=) - ABCG5_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-468C>T r.(?) p.(=) Unknown - likely benign g.44065725C>T g.43838586C>T ABCG5(NM_022436.2):c.94G>A (p.A32T) - ABCG5_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-454C>G r.(?) p.(=) Unknown - benign g.44065739C>G g.43838600C>G ABCG5(NM_022436.2):c.80G>C (p.G27A), ABCG5(NM_022436.3):c.80G>C (p.G27A) - ABCG5_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-454C>G r.(?) p.(=) Unknown - benign g.44065739C>G g.43838600C>G ABCG5(NM_022436.2):c.80G>C (p.G27A), ABCG5(NM_022436.3):c.80G>C (p.G27A) - ABCG5_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-454C>G r.(?) p.(=) Unknown - likely benign g.44065739C>G - ABCG5(NM_022436.2):c.80G>C (p.G27A), ABCG5(NM_022436.3):c.80G>C (p.G27A) - ABCG5_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-452C>A r.(?) p.(=) Unknown - likely benign g.44065741C>A g.43838602C>A ABCG5(NM_022436.2):c.78G>T (p.E26D) - ABCG5_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-447G>C r.(?) p.(=) Unknown - VUS g.44065746G>C g.43838607G>C ABCG5(NM_022436.2):c.73C>G (p.L25V) - ABCG5_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-438G>A r.(?) p.(=) Unknown - pathogenic g.44065755G>A g.43838616G>A ABCG5(NM_022436.2):c.64C>T (p.Q22*) - ABCG5_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-424A>C r.(?) p.(=) Unknown - likely benign g.44065769A>C - ABCG5(NM_022436.2):c.50T>G (p.V17G) - ABCG5_000235 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-415C>A r.(?) p.(=) Unknown - VUS g.44065778C>A g.43838639C>A ABCG5(NM_022436.2):c.41G>T (p.G14V) - ABCG5_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-411T>C r.(?) p.(=) Unknown - likely benign g.44065782T>C g.43838643T>C ABCG5(NM_022436.2):c.37A>G (p.M13V) - ABCG5_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-407C>A r.(?) p.(=) Unknown - likely benign g.44065786C>A g.43838647C>A ABCG5(NM_022436.2):c.33G>T (p.G11=) - ABCG5_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-405C>T r.(?) p.(=) Unknown - VUS g.44065788C>T - ABCG5(NM_022436.2):c.31G>A (p.G11R) - ABCG5_000255 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-401G>A r.(?) p.(=) Unknown - benign g.44065792G>A g.43838653G>A ABCG5(NM_022436.2):c.27C>T (p.P9=), ABCG5(NM_022436.3):c.27C>T (p.P9=) - ABCG5_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-401G>A r.(?) p.(=) Unknown - likely benign g.44065792G>A - ABCG5(NM_022436.2):c.27C>T (p.P9=), ABCG5(NM_022436.3):c.27C>T (p.P9=) - ABCG5_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-299G>A r.(?) p.(=) Unknown - likely benign g.44065894G>A - ABCG5(NM_022436.2):c.-76C>T - ABCG5_000289 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-257T>G r.(?) p.(=) Unknown - likely benign g.44065936T>G - ABCG5(NM_022436.2):c.-118A>C - ABCG5_000187 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-19T>G r.(?) p.(=) Unknown - benign g.44066174T>G g.43839035T>G ABCG8(NM_022437.3):c.-19T>G - ABCG8_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-19T>G r.(?) p.(=) Unknown - benign g.44066174T>G - ABCG8(NM_022437.3):c.-19T>G - ABCG8_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-15A>C r.(?) p.(=) Unknown - benign g.44066178A>C g.43839039A>C ABCG8(NM_022437.3):c.-15A>C - ABCG8_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-4C>T r.(?) p.(=) Unknown - VUS g.44066189C>T g.43839050C>T ABCG8(NM_022437.3):c.-4C>T - ABCG5_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2T>C r.(?) p.(Met1?) Unknown - VUS g.44066194T>C g.43839055T>C ABCG8(NM_022437.3):c.2T>C (p.M1?) - ABCG5_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.15G>A r.(?) p.(Ala5=) Unknown - likely benign g.44066207G>A - ABCG8(NM_022437.3):c.15G>A (p.A5=) - ABCG5_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.27A>G r.(?) p.(Arg9=) Unknown - likely benign g.44066219A>G - ABCG8(NM_022437.3):c.27A>G (p.R9=) - ABCG5_000290 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.28G>A r.(?) p.(Gly10Arg) Unknown - VUS g.44066220G>A - ABCG8(NM_022437.3):c.28G>A (p.G10R) - ABCG5_000256 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.29G>C r.(?) p.(Gly10Ala) Unknown - likely benign g.44066221G>C g.43839082G>C ABCG8(NM_022437.2):c.29G>C (p.G10A), ABCG8(NM_022437.3):c.29G>C (p.G10A) - ABCG5_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.29G>C r.(?) p.(Gly10Ala) Unknown - likely benign g.44066221G>C - ABCG8(NM_022437.2):c.29G>C (p.G10A), ABCG8(NM_022437.3):c.29G>C (p.G10A) - ABCG5_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.35C>T r.(?) p.(Pro12Leu) Unknown - VUS g.44066227C>T g.43839088C>T ABCG8(NM_022437.3):c.35C>T (p.P12L) - ABCG5_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.51C>A r.(?) p.(Pro17=) Unknown - benign g.44066243C>A g.43839104C>A ABCG8(NM_022437.3):c.51C>A (p.P17=) - ABCG8_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.51_63dup r.(?) p.(Gly22ProfsTer9) Unknown - VUS g.44066243_44066255dup g.43839104_43839116dup ABCG8(NM_022437.3):c.51_63dupCCAGGATACCTCG (p.G22Pfs*9) - ABCG5_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.55G>C r.(?) p.(Asp19His) Unknown - benign g.44066247G>C g.43839108G>C ABCG8(NM_022437.3):c.55G>C (p.D19H) - ABCG8_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.55G>C r.(?) p.(Asp19His) Unknown - benign g.44066247G>C g.43839108G>C ABCG8(NM_022437.3):c.55G>C (p.D19H) - ABCG8_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.62C>T r.(?) p.(Ser21Leu) Unknown - VUS g.44066254C>T g.43839115C>T ABCG8(NM_022437.3):c.62C>T (p.S21L) - ABCG5_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.63+7G>A r.(=) p.(=) Unknown - VUS g.44066262G>A - ABCG8(NM_022437.3):c.63+7G>A - ABCG5_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.63+12A>G r.(=) p.(=) Unknown - likely benign g.44066267A>G - ABCG8(NM_022437.3):c.63+12A>G - ABCG5_000257 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.63+15_63+16del r.(=) p.(=) Unknown - likely benign g.44066270_44066271del - ABCG8(NM_022437.3):c.63+15_63+16delGG - ABCG5_000291 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.63+289T>C r.(=) p.(=) Unknown - likely benign g.44066544T>C - ABCG8(NM_022437.3):c.63+289T>C - ABCG5_000292 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.64-294T>A r.(=) p.(=) Unknown - likely benign g.44071352T>A - ABCG8(NM_022437.3):c.64-294T>A - ABCG8_000251 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.64-21C>A r.(=) p.(=) Unknown - likely benign g.44071625C>A g.43844486C>A ABCG8(NM_022437.3):c.64-21C>A - ABCG8_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.64-14C>T r.(=) p.(=) Unknown - likely benign g.44071632C>T - ABCG8(NM_022437.3):c.64-14C>T - ABCG8_000227 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.64-7C>T r.(=) p.(=) Unknown - benign g.44071639C>T g.43844500C>T ABCG8(NM_022437.3):c.64-7C>T - ABCG8_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.64-7C>T r.(=) p.(=) Unknown - benign g.44071639C>T g.43844500C>T ABCG8(NM_022437.3):c.64-7C>T - ABCG8_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.64-7C>T r.(=) p.(=) Unknown - benign g.44071639C>T - ABCG8(NM_022437.3):c.64-7C>T - ABCG8_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.64G>A r.(?) p.(Gly22Ser) Unknown - benign g.44071646G>A g.43844507G>A ABCG8(NM_022437.3):c.64G>A (p.G22S) - ABCG8_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.64G>A r.(?) p.(Gly22Ser) Unknown - VUS g.44071646G>A - ABCG8(NM_022437.3):c.64G>A (p.G22S) - ABCG8_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.76A>G r.(?) p.(Arg26Gly) Unknown - likely benign g.44071658A>G g.43844519A>G ABCG8(NM_022437.3):c.76A>G (p.R26G) - ABCG8_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.94A>G r.(?) p.(Ser32Gly) Unknown - likely benign g.44071676A>G g.43844537A>G ABCG8(NM_022437.3):c.94A>G (p.S32G) - ABCG8_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.97G>A r.(?) p.(Asp33Asn) Unknown - VUS g.44071679G>A - ABCG8(NM_022437.3):c.97G>A (p.D33N) - ABCG8_000252 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.115A>T r.(?) p.(Thr39Ser) Unknown - VUS g.44071697A>T - ABCG8(NM_022437.3):c.115A>T (p.T39S) - ABCG8_000293 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.137C>A r.(?) p.(Thr46Asn) Unknown - VUS g.44071719C>A - ABCG8(NM_022437.3):c.137C>A (p.T46N) - ABCG8_000228 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.154C>G r.(?) p.(Leu52Val) Unknown - likely pathogenic g.44071736C>G g.43844597C>G ABCG8(NM_022437.3):c.154C>G (p.L52V) - ABCG8_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.161A>G r.(?) p.(Tyr54Cys) Unknown - benign g.44071743A>G g.43844604A>G ABCG8(NM_022437.3):c.161A>G (p.Y54C) - ABCG8_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.161A>G r.(?) p.(Tyr54Cys) Unknown - benign g.44071743A>G g.43844604A>G ABCG8(NM_022437.3):c.161A>G (p.Y54C) - ABCG8_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.161A>G r.(?) p.(Tyr54Cys) Unknown - likely benign g.44071743A>G - ABCG8(NM_022437.3):c.161A>G (p.Y54C) - ABCG8_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.165+3A>G r.spl? p.? Unknown - likely pathogenic g.44071750A>G g.43844611A>G ABCG8(NM_022437.3):c.165+3A>G - ABCG8_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.165+13C>T r.(=) p.(=) Unknown - benign g.44071760C>T g.43844621C>T ABCG8(NM_022437.3):c.165+13C>T - ABCG8_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.165+41G>A r.(=) p.(=) Unknown - likely benign g.44071788G>A - ABCG8(NM_022437.3):c.165+41G>A - ABCG8_000294 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.165+86A>C r.(=) p.(=) Unknown - benign g.44071833A>C - ABCG8(NM_022437.3):c.165+86A>C - ABCG8_000214 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.165+105G>C r.(=) p.(=) Unknown - benign g.44071852G>C - ABCG8(NM_022437.3):c.165+105G>C - ABCG8_000215 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.165+398T>G r.(=) p.(=) Unknown - benign g.44072145T>G - ABCG8(NM_022437.3):c.165+398T>G - ABCG8_000229 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.165+490G>A r.(=) p.(=) Unknown - benign g.44072237G>A - ABCG8(NM_022437.3):c.165+490G>A - ABCG8_000230 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.165+490_165+491del r.(=) p.(=) Unknown - benign g.44072237_44072238del - ABCG8(NM_022437.3):c.165+490_165+491delGT - ABCG8_000231 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.165+490_165+493del r.(=) p.(=) Unknown - benign g.44072237_44072240del - ABCG8(NM_022437.3):c.165+490_165+493delGTAT - ABCG8_000216 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.165+511_165+512del r.(=) p.(=) Unknown - benign g.44072258_44072259del g.43845119_43845120del ABCG8(NM_022437.3):c.165+511_165+512delTA - ABCG8_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.165+523dup r.(=) p.(=) Unknown - likely benign g.44072270dup - ABCG8(NM_022437.3):c.165+523dupT - ABCG8_000253 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.166-718G>T r.(=) p.(=) Unknown - benign g.44072576G>T g.43845437G>T ABCG8(NM_022437.3):c.166-718G>T - ABCG8_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.166-340T>G r.(=) p.(=) Unknown - likely benign g.44072954T>G - ABCG8(NM_022437.3):c.166-340T>G - ABCG8_000254 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.166-19T>G r.(=) p.(=) Unknown - likely benign g.44073275T>G - ABCG8(NM_022437.3):c.166-19T>G - ABCG8_000295 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.169G>C r.(?) p.(Asp57His) Unknown - VUS g.44073297G>C g.43846158G>C ABCG8(NM_022437.3):c.169G>C (p.D57H) - ABCG8_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.171C>A r.(?) p.(Asp57Glu) Unknown - VUS g.44073299C>A g.43846160C>A ABCG8(NM_022437.3):c.171C>A (p.D57E) - ABCG8_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.220C>G r.(?) p.(Pro74Ala) Unknown - VUS g.44073348C>G g.43846209C>G ABCG8(NM_022437.3):c.220C>G (p.P74A) - ABCG8_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.239G>A r.(?) p.(Cys80Tyr) Unknown - benign g.44073367G>A g.43846228G>A ABCG8(NM_022437.3):c.239G>A (p.C80Y) - ABCG8_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.239G>A r.(?) p.(Cys80Tyr) Unknown - benign g.44073367G>A g.43846228G>A ABCG8(NM_022437.3):c.239G>A (p.C80Y) - ABCG8_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.261C>T r.(?) p.(Gly87=) Unknown - likely benign g.44073389C>T - ABCG8(NM_022437.3):c.261C>T (p.G87=) - ABCG8_000255 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.262A>G r.(?) p.(Ile88Val) Unknown - VUS g.44073390A>G - ABCG8(NM_022437.3):c.262A>G (p.I88V) - ABCG8_000271 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.270C>G r.(?) p.(Asn90Lys) Unknown - likely benign g.44073398C>G g.43846259C>G ABCG8(NM_022437.3):c.270C>G (p.N90K) - ABCG8_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.275G>A r.(?) p.(Ser92Asn) Unknown - VUS g.44073403G>A - ABCG8(NM_022437.3):c.275G>A (p.S92N) - ABCG8_000232 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.275G>C r.(?) p.(Ser92Thr) Unknown - VUS g.44073403G>C - ABCG8(NM_022437.3):c.275G>C (p.S92T) - ABCG8_000233 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.320C>G r.(?) p.(Ser107*) Unknown - pathogenic g.44073448C>G - ABCG8(NM_022437.3):c.320C>G (p.S107*) - ABCG8_000296 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.322+5C>T r.spl? p.? Unknown - likely benign g.44073455C>T - ABCG8(NM_022437.3):c.322+5C>T - ABCG8_000234 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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