All variants in the ABCG5 gene

Information The variants shown are described using the NM_022436.2 transcript reference sequence.

297 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. - c.-449T>C r.(?) p.(=) - likely benign g.44066267A>G - ABCG8(NM_022437.3):c.63+12A>G - ABCG5_000257 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.-444C>T r.(?) p.(=) - VUS g.44066262G>A - ABCG8(NM_022437.3):c.63+7G>A - ABCG5_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.-437_-425dup r.(?) p.(=) - 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 - - - - - VKGL-NL_AMC
?/. - c.-436G>A r.(?) p.(=) - 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 - - - - - VKGL-NL_AMC
-/. - c.-429C>G r.(?) p.(=) - 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 - VKGL-NL_AMC
-/. - c.-429C>G r.(?) p.(=) - 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 - - - - - VKGL-NL_Utrecht
-/. - c.-425G>T r.(?) p.(=) - 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 - VKGL-NL_AMC
?/. - c.-409G>A r.(?) p.(=) - 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 - - - - - VKGL-NL_AMC
-?/. - c.-403C>G r.(?) p.(=) - 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 - - - - - VKGL-NL_AMC
-?/. - c.-403C>G r.(?) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
?/. - c.-402C>T r.(?) p.(=) - VUS g.44066220G>A - ABCG8(NM_022437.3):c.28G>A (p.G10R) - ABCG5_000256 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.-389C>T r.(?) p.(=) - likely benign g.44066207G>A - ABCG8(NM_022437.3):c.15G>A (p.A5=) - ABCG5_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.-376A>G r.(?) p.(=) - 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 - - - - - VKGL-NL_AMC
?/. - c.-371G>A r.(?) p.(=) - VUS g.44066189C>T g.43839050C>T ABCG8(NM_022437.3):c.-4C>T - ABCG5_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.-360T>G r.(?) p.(=) - benign g.44066178A>C g.43839039A>C ABCG8(NM_022437.3):c.-15A>C - ABCG8_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.-356A>C r.(?) p.(=) - benign g.44066174T>G g.43839035T>G ABCG8(NM_022437.3):c.-19T>G - ABCG8_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.-356A>C r.(?) p.(=) - benign g.44066174T>G - ABCG8(NM_022437.3):c.-19T>G - ABCG8_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-118A>C r.(?) p.(=) - likely benign g.44065936T>G - ABCG5(NM_022436.2):c.-118A>C - ABCG5_000187 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. -1_13_ c.-140_*644{0} r.0? p.0? ACMG pathogenic (recessive) g.(?_43991388)_(44102695_?)del - g.43991388_44102695del - ABCG5_000258 - - - - Germline - - - 0 - Wenjuan Qiu
+?/. - c.14C>A r.(?) p.(Ser5*) ACMG likely pathogenic (recessive) g.44065805G>T - - - ABCG5_000211 - - - - Germline - - - 0 - Wenjuan Qiu
-/. - c.27C>T r.(?) p.(Pro9=) - 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 - VKGL-NL_AMC
-?/. - c.27C>T r.(?) p.(Pro9=) - 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 - - - - - VKGL-NL_Utrecht
?/. - c.31G>A r.(?) p.(Gly11Arg) - VUS g.44065788C>T - ABCG5(NM_022436.2):c.31G>A (p.G11R) - ABCG5_000255 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.33G>T r.(?) p.(Gly11=) - 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 - - - - - VKGL-NL_AMC
-?/. - c.37A>G r.(?) p.(Met13Val) - 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 - - - - - VKGL-NL_AMC
?/. - c.41G>T r.(?) p.(Gly14Val) - 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 - - - - - VKGL-NL_AMC
-?/. - c.50T>G r.(?) p.(Val17Gly) - likely benign g.44065769A>C - ABCG5(NM_022436.2):c.50T>G (p.V17G) - ABCG5_000235 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.64C>T r.(?) p.(Gln22Ter) - 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 - - - - - VKGL-NL_AMC
?/. - c.73C>G r.(?) p.(Leu25Val) - 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 - - - - - VKGL-NL_AMC
-?/. - c.78G>T r.(?) p.(Glu26Asp) - 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 - VKGL-NL_AMC
-/. - c.80G>C r.(?) p.(Gly27Ala) - 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 - VKGL-NL_AMC
-/. - c.80G>C r.(?) p.(Gly27Ala) - 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 - - - - - VKGL-NL_Utrecht
-?/. - c.80G>C r.(?) p.(Gly27Ala) - 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 - - - - - VKGL-NL_Rotterdam
-?/. - c.94G>A r.(?) p.(Ala32Thr) - 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 - VKGL-NL_AMC
-?/. - c.99G>A r.(?) p.(Pro33=) - 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 - - - - - VKGL-NL_AMC
?/. - c.138C>A r.(?) p.(Ser46Arg) - 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 - - - - - VKGL-NL_AMC
?/. - c.139G>A r.(?) p.(Val47Ile) - 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 - - - - - VKGL-NL_AMC
?/. - c.139G>T r.(?) p.(Val47Phe) - 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 - - - - - VKGL-NL_AMC
?/. - c.143G>A r.(?) p.(Ser48Asn) - VUS g.44065676C>T - ABCG5(NM_022436.2):c.143G>A (p.S48N) - ABCG5_000254 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.143+257C>T r.(=) p.(=) - likely benign g.44065419G>A - ABCG5(NM_022436.2):c.143+257C>T - ABCG5_000186 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.148C>T r.(?) p.(Arg50Cys) - 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 - VKGL-NL_AMC
+/. 2 c.156_186del r.(?) p.(Arg52Serfs*24) - pathogenic (recessive) g.44065054_44065084del g.43837915_43837945del - - ABCG5_000208 - - - - Germline - - - 0 - Wenjuan Qiu
+/. - c.164G>A r.(?) p.(Trp55Ter) - pathogenic g.44065074C>T - ABCG5(NM_022436.2):c.164G>A (p.W55*) - ABCG5_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.182G>A r.(?) p.(Arg61Gln) - 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 - - - - - VKGL-NL_AMC
-?/. - c.184C>A r.(?) p.(Gln62Lys) - likely benign g.44065054G>T - ABCG5(NM_022436.2):c.184C>A (p.Q62K) - ABCG5_000253 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.219C>G r.(?) p.(Ser73=) - 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 - VKGL-NL_AMC
+?/. - c.235G>A r.(?) p.(Gly79Arg) - 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 - VKGL-NL_AMC
?/. - c.235G>A r.(?) p.(Gly79Arg) - 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 - - - - - VKGL-NL_Groningen
?/. - c.238C>A r.(?) p.(Gln80Lys) - 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 - - - - - VKGL-NL_AMC
?/. - c.242T>C r.(?) p.(Ile81Thr) - 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 - - - - - VKGL-NL_AMC
+?/. - c.245T>C r.(?) p.(Met82Thr) - 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 - VKGL-NL_AMC
-/. - c.265+10G>A r.(=) p.(=) - benign g.44064963C>T g.43837824C>T ABCG5(NM_022436.2):c.265+10G>A - ABCG5_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.265+189C>T r.(=) p.(=) - likely benign g.44064784G>A - ABCG5(NM_022436.2):c.265+189C>T - ABCG5_000234 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.266-11T>C r.(=) p.(=) - VUS g.44059233A>G - ABCG5(NM_022436.2):c.266-11T>C - ABCG5_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.266-4G>T r.spl? p.? - VUS g.44059226C>A - ABCG5(NM_022436.2):c.266-4G>T - ABCG5_000233 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.266-3C>A r.spl? p.? - likely pathogenic g.44059225G>T g.43832086G>T ABCG5(NM_022436.2):c.266-3C>A - ABCG5_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.281C>G r.(?) p.(Thr94Arg) - VUS g.44059207G>C - ABCG5(NM_022436.2):c.281C>G (p.T94R) - ABCG5_000252 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.292G>T r.(?) p.(Ala98Ser) - VUS g.44059196C>A g.43832057C>A ABCG5(NM_022436.2):c.292G>T (p.A98S) - ABCG5_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.293C>G r.(?) p.(Ala98Gly) - VUS g.44059195G>C g.43832056G>C ABCG5(NM_022436.2):c.293C>G (p.A98G), ABCG5(NM_022436.3):c.293C>G (p.A98G) - ABCG5_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.293C>G r.(?) p.(Ala98Gly) - likely benign g.44059195G>C g.43832056G>C ABCG5(NM_022436.2):c.293C>G (p.A98G), ABCG5(NM_022436.3):c.293C>G (p.A98G) - ABCG5_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.293C>G r.(?) p.(Ala98Gly) - VUS g.44059195G>C g.43832056G>C - - ABCG5_000043 conflicting interpretations of pathogenicity; 21 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs145164937 Germline - 21/2790 individuals - 0 - Mohammed Faruq
-/. - c.293C>G r.(?) p.(Ala98Gly) - benign g.44059195G>C - ABCG5(NM_022436.2):c.293C>G (p.A98G), ABCG5(NM_022436.3):c.293C>G (p.A98G) - ABCG5_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 3 c.296T>G r.(?) p.(Met99Arg) - VUS g.44059192A>C - - - ABCG5_000205 - - - - Germline - - - - - Wenjuan Qiu
-?/. - c.325T>C r.(?) p.(Phe109Leu) - likely benign g.44059163A>G g.43832024A>G ABCG5(NM_022436.2):c.325T>C (p.F109L) - ABCG5_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.341A>G r.(?) p.(Tyr114Cys) - likely benign g.44059147T>C - ABCG5(NM_022436.2):c.341A>G (p.Y114C) - ABCG5_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.353G>C r.(?) p.(Arg118Pro) - VUS g.44059135C>G - ABCG5(NM_022436.2):c.353G>C (p.R118P) - ABCG5_000200 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.356C>T r.(?) p.(Ala119Val) - VUS g.44059132G>A - ABCG5(NM_022436.2):c.356C>T (p.A119V) - ABCG5_000232 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.366G>C r.(?) p.(Arg122=) - likely benign g.44059122C>G - ABCG5(NM_022436.2):c.366G>C (p.R122=) - ABCG5_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.388T>C r.(?) p.(Ser130Pro) - VUS g.44059100A>G g.43831961A>G ABCG5(NM_022436.2):c.388T>C (p.S130P) - ABCG5_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.391T>C r.(?) p.(Tyr131His) - likely pathogenic g.44059097A>G g.43831958A>G ABCG5(NM_022436.2):c.391T>C (p.Y131H) - ABCG5_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.392A>G r.(?) p.(Tyr131Cys) - pathogenic g.44059096T>C g.43831957T>C ABCG5(NM_022436.2):c.392A>G (p.Y131C) - ABCG5_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.402+20C>T r.(=) p.(=) - likely benign g.44059066G>A g.43831927G>A ABCG5(NM_022436.2):c.402+20C>T - ABCG5_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.403-19A>T r.(=) p.(=) - likely benign g.44059025T>A g.43831886T>A ABCG5(NM_022436.2):c.403-19A>T - ABCG5_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.431T>C r.(?) p.(Val144Ala) - VUS g.44058978A>G - ABCG5(NM_022436.2):c.431T>C (p.V144A) - ABCG5_000199 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.436G>C r.(?) p.(Glu146Gln) - pathogenic g.44058973C>G g.43831834C>G ABCG5(NM_022436.2):c.436G>C (p.E146Q) - ABCG5_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 4 c.438G>C r.(?) p.(Glu146Asp) - likely pathogenic (recessive) g.44058971C>G - - - ABCG5_000204 - - - - Germline - - - - - Wenjuan Qiu
-?/. - c.442C>T r.(?) p.(Leu148=) - likely benign g.44058967G>A g.43831828G>A ABCG5(NM_022436.2):c.442C>T (p.L148=) - ABCG5_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.444G>A r.(?) p.(Leu148=) - likely benign g.44058965C>T - ABCG5(NM_022436.2):c.444G>A (p.L148=) - ABCG5_000231 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 4 c.469del r.(?) p.(Arg157Alafs*19) - pathogenic (recessive) g.44058941del g.43831802del 469delC - ABCG5_000206 - - - - Germline - - - 0 - Wenjuan Qiu
+?/. - c.495G>T r.(?) p.(Gln165His) - likely pathogenic g.44058914C>A g.43831775C>A ABCG5(NM_022436.2):c.495G>T (p.Q165H) - ABCG5_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+?/. - c.501G>A r.(?) p.(Lys167=) - likely pathogenic g.44058908C>T - ABCG5(NM_022436.2):c.501G>A (p.K167=) - ABCG5_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.501+11C>A r.(=) p.(=) - likely benign g.44058897G>T g.43831758G>T ABCG5(NM_022436.2):c.501+11C>A - ABCG5_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.501+16del r.(=) p.(=) - likely benign g.44058897del g.43831758del ABCG5(NM_022436.2):c.501+16delC - ABCG5_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.501+16dup r.(=) p.(=) - benign g.44058897dup g.43831758dup ABCG5(NM_022436.2):c.501+16dupC - ABCG5_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.501+438A>G r.(=) p.(=) - likely benign g.44058470T>C - ABCG5(NM_022436.2):c.501+438A>G - ABCG5_000230 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.502-395T>G r.(=) p.(=) - likely benign g.44055649A>C - ABCG5(NM_022436.2):c.502-395T>G - ABCG5_000229 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.502-362_502-356del r.(=) p.(=) - likely benign g.44055611_44055617del - ABCG5(NM_022436.2):c.502-362_502-356delTTTTTGT - ABCG5_000228 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.502-273A>G r.(=) p.(=) - benign g.44055527T>C g.43828388T>C ABCG5(NM_022436.2):c.502-273A>G - ABCG5_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.502-256G>A r.(=) p.(=) - likely benign g.44055510C>T g.43828371C>T ABCG5(NM_022436.2):c.502-256G>A - ABCG5_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.502-192C>T r.(=) p.(=) - benign g.44055446G>A - ABCG5(NM_022436.2):c.502-192C>T - ABCG5_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.502-133G>A r.(=) p.(=) - likely benign g.44055387C>T - ABCG5(NM_022436.2):c.502-133G>A - ABCG5_000227 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.502-19del r.(=) p.(=) - likely benign g.44055273del g.43828134del ABCG5(NM_022436.2):c.502-19delT, DYNC2LI1(NM_001348913.1):c.*764delA - ABCG5_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.510C>T r.(?) p.(Ala170=) - likely benign g.44055246G>A - ABCG5(NM_022436.2):c.510C>T (p.A170=), DYNC2LI1(NM_001348913.1):c.*737G>A - ABCG5_000251 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.511G>A r.(?) p.(Val171Ile) - VUS g.44055245C>T - ABCG5(NM_022436.2):c.511G>A (p.V171I), DYNC2LI1(NM_001348913.1):c.*736C>T - ABCG5_000250 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.542C>T r.(?) p.(Ala181Val) - likely pathogenic g.44055214G>A g.43828075G>A ABCG5(NM_022436.2):c.542C>T (p.A181V), ABCG5(NM_022436.3):c.542C>T (p.A181V), DYNC2LI1(NM_001348913.1):c.*705G>A - ABCG5_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.542C>T r.(?) p.(Ala181Val) - VUS g.44055214G>A - ABCG5(NM_022436.2):c.542C>T (p.A181V), ABCG5(NM_022436.3):c.542C>T (p.A181V), DYNC2LI1(NM_001348913.1):c.*705G>A - ABCG5_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.575dup r.(?) p.(Ile193HisfsTer5) - likely pathogenic g.44055186dup g.43828047dup ABCG5(NM_022436.2):c.575dupG (p.I193Hfs*5), DYNC2LI1(NM_001348913.1):c.*677dupC - ABCG5_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.578T>G r.(?) p.(Ile193Ser) - likely pathogenic g.44055178A>C g.43828039A>C ABCG5(NM_022436.2):c.578T>G (p.I193S) - ABCG5_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.584C>G r.(?) p.(Thr195Arg) - benign g.44055172G>C g.43828033G>C ABCG5(NM_022436.2):c.584C>G (p.T195R) - ABCG5_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.584C>T r.(?) p.(Thr195Met) - VUS g.44055172G>A g.43828033G>A ABCG5(NM_022436.2):c.584C>T (p.T195M), DYNC2LI1(NM_001348913.1):c.*663G>A - ABCG5_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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