Full data view for gene ABCG5

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

430 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.-18015363_*16439847dup r.0? p.0? Unknown - VUS g.27600408_62081181dup - chr2:27600408–62081181 - FSHR_000025 - PubMed: Ellingsford 2018 - - Germline - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4821A>G r.(?) p.(=) Unknown - benign g.44070639T>C - ABCG8(NM_022437.3):c.64-1007T>C - ABCG5_000332 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-751_-725del r.(?) p.(=) Unknown - likely benign g.44066557_44066583del - ABCG8(NM_022437.3):c.63+302_63+328delTTTTTTTTTTTTTTTTTTTTTTTTTTT - ABCG5_000331 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-741_-725del r.(?) p.(=) Unknown - likely benign g.44066567_44066583del - ABCG8(NM_022437.3):c.63+312_63+328delTTTTTTTTTTTTTTTTT - ABCG5_000350 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-726A>G 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.-452_-451del 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.-449T>C 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.-446C>G r.(?) p.(=) Unknown - likely benign g.44066264G>C - ABCG8(NM_022437.3):c.63+9G>C - ABCG5_000316 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-444C>T 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.-437_-425dup r.(?) p.(=) 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.-436G>A r.(?) p.(=) 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.-429C>G r.(?) p.(=) 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.-429C>G r.(?) p.(=) 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.-425G>T r.(?) p.(=) 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-410C>T r.(?) p.(=) Unknown - likely benign g.44066228G>A - ABCG8(NM_022437.3):c.36G>A (p.P12=) - ABCG5_000376 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-409G>A r.(?) p.(=) 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.-403C>G r.(?) p.(=) 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.-403C>G r.(?) p.(=) 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.-402C>T r.(?) p.(=) Unknown - VUS g.44066220G>A - ABCG8(NM_022437.3):c.28G>A (p.G10R) - ABCG5_000256 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-401T>C r.(?) p.(=) 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.-389C>T r.(?) p.(=) 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.-385_-384insA r.(?) p.(=) Unknown - pathogenic g.44066202_44066203insT - ABCG8(NM_022437.3):c.10_11insT (p.K4Ifs*23) - ABCG5_000349 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-377C>A r.(?) p.(=) Unknown - likely pathogenic g.44066195G>T - ABCG8(NM_022437.3):c.3G>T (p.M1?) - ABCG5_000303 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-376A>G r.(?) p.(=) 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.-371G>A 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.-360T>G 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-356A>C 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-356A>C r.(?) p.(=) Unknown - benign g.44066174T>G - ABCG8(NM_022437.3):c.-19T>G - ABCG8_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-118A>C r.(?) p.(=) Unknown - likely benign g.44065936T>G - ABCG5(NM_022436.3):c.-118A>C - ABCG5_000187 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-76C>T r.(?) p.(=) Unknown - likely benign g.44065894G>A - ABCG5(NM_022436.3):c.-76C>T - ABCG5_000289 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. -1_13_ c.-140_*644{0} r.0? p.0? Unknown ACMG pathogenic (recessive) g.(?_43991388)_(44102695_?)del - g.43991388_44102695del - ABCG5_000258 - - - - Germline - - - - - DNA SEQ-NG-I blood - - - - - - - - - - - - - - -
+?/. - c.14C>A r.(?) p.(Ser5*) Paternal (confirmed) ACMG likely pathogenic (recessive) g.44065805G>T - - - ABCG5_000211 - - - - Germline - - - - - DNA SEQ-NG-I blood - STSL STSL_P56 - - F no China Chinese - - - low-phytosterol diet 1 Wenjuan Qiu
?/. - c.23C>A r.(?) p.(Thr8Asn) Unknown - VUS g.44065796G>T - ABCG5(NM_022436.3):c.23C>A (p.T8N) - ABCG5_000375 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.27C>T r.(?) p.(Pro9=) Unknown - benign g.44065792G>A g.43838653G>A ABCG5(NM_022436.3):c.27C>T (p.P9=) - ABCG5_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.27C>T r.(?) p.(Pro9=) Unknown - likely benign g.44065792G>A - ABCG5(NM_022436.3):c.27C>T (p.P9=) - ABCG5_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.31G>A r.(?) p.(Gly11Arg) Unknown - VUS g.44065788C>T - ABCG5(NM_022436.3):c.31G>A (p.G11R) - ABCG5_000255 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.33G>T r.(?) p.(Gly11=) Unknown - likely benign g.44065786C>A g.43838647C>A ABCG5(NM_022436.3):c.33G>T (p.G11=) - ABCG5_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.37A>G r.(?) p.(Met13Val) Unknown - likely benign g.44065782T>C g.43838643T>C ABCG5(NM_022436.3):c.37A>G (p.M13V) - ABCG5_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.41G>T r.(?) p.(Gly14Val) Unknown - VUS g.44065778C>A g.43838639C>A ABCG5(NM_022436.3):c.41G>T (p.G14V) - ABCG5_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.50T>G r.(?) p.(Val17Gly) Unknown - likely benign g.44065769A>C - ABCG5(NM_022436.3):c.50T>G (p.V17G) - ABCG5_000235 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.61T>G r.(?) p.(Ser21Ala) Unknown - VUS g.44065758A>C - ABCG5(NM_022436.3):c.61T>G (p.S21A) - ABCG5_000302 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.64C>T r.(?) p.(Gln22Ter) Unknown - pathogenic g.44065755G>A g.43838616G>A ABCG5(NM_022436.3):c.64C>T (p.Q22*) - ABCG5_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.73C>G r.(?) p.(Leu25Val) Unknown - VUS g.44065746G>C g.43838607G>C ABCG5(NM_022436.3):c.73C>G (p.L25V) - ABCG5_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.78G>T r.(?) p.(Glu26Asp) Unknown - likely benign g.44065741C>A g.43838602C>A ABCG5(NM_022436.3):c.78G>T (p.E26D) - ABCG5_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.80G>C r.(?) p.(Gly27Ala) 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.80G>C r.(?) p.(Gly27Ala) 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.80G>C r.(?) p.(Gly27Ala) 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.80G>C r.(?) p.(Gly27Ala) Unknown - likely benign g.44065739C>G - - - ABCG5_000050 - - - rs56204478 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.94G>A r.(?) p.(Ala32Thr) Unknown - likely benign g.44065725C>T g.43838586C>T ABCG5(NM_022436.3):c.94G>A (p.A32T) - ABCG5_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.99G>A r.(?) p.(Pro33=) Unknown - likely benign g.44065720C>T g.43838581C>T ABCG5(NM_022436.3):c.99G>A (p.P33=) - ABCG5_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.138C>A r.(?) p.(Ser46Arg) Unknown - VUS g.44065681G>T g.43838542G>T ABCG5(NM_022436.3):c.138C>A (p.S46R) - ABCG5_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.139G>A r.(?) p.(Val47Ile) Unknown - VUS g.44065680C>T g.43838541C>T ABCG5(NM_022436.3):c.139G>A (p.V47I) - ABCG5_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.139G>T r.(?) p.(Val47Phe) Unknown - VUS g.44065680C>A g.43838541C>A ABCG5(NM_022436.3):c.139G>T (p.V47F) - ABCG5_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.143G>A r.(?) p.(Ser48Asn) Unknown - VUS g.44065676C>T - ABCG5(NM_022436.3):c.143G>A (p.S48N) - ABCG5_000254 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.143+257C>T r.(=) p.(=) Unknown - likely benign g.44065419G>A - ABCG5(NM_022436.3):c.143+257C>T - ABCG5_000186 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.144-19C>T r.(=) p.(=) Unknown - likely benign g.44065113G>A - ABCG5(NM_022436.3):c.144-19C>T - ABCG5_000374 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.144-7_157dup r.spl? p.? Unknown - likely pathogenic g.44065082_44065102dup - ABCG5(NM_022436.3):c.157_158insTTTAAAGCCACCGCGTGAGGC (p.P53delinsL*) - ABCG5_000288 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.148C>T r.(?) p.(Arg50Cys) Unknown - benign g.44065090G>A g.43837951G>A ABCG5(NM_022436.3):c.148C>T (p.R50C) - ABCG5_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.154A>G r.(?) p.(Arg52Gly) Unknown - VUS g.44065084T>C - ABCG5(NM_022436.3):c.154A>G (p.R52G) - ABCG5_000301 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.155G>T r.(?) p.(Arg52Met) Unknown - VUS g.44065083C>A - ABCG5(NM_022436.3):c.155G>T (p.R52M) - ABCG5_000340 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.156_186del r.(?) p.(Arg52Serfs*24) Maternal (confirmed) - pathogenic (recessive) g.44065054_44065084del g.43837915_43837945del - - ABCG5_000208 - - - - Germline - - - - - DNA SEQ-NG-I blood - STSL1 STSL_P46 - - M no China Chinese - - - low-phytosterol diet and ezetimibe 1 Wenjuan Qiu
+/. - c.164G>A r.(?) p.(Trp55Ter) Unknown - pathogenic g.44065074C>T - ABCG5(NM_022436.3):c.164G>A (p.W55*) - ABCG5_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.169A>G r.(?) p.(Ile57Val) Unknown - VUS g.44065069T>C - ABCG5(NM_022436.3):c.169A>G (p.I57V) - ABCG5_000315 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.182G>A r.(?) p.(Arg61Gln) Unknown - VUS g.44065056C>T g.43837917C>T ABCG5(NM_022436.3):c.182G>A (p.R61Q) - ABCG5_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.182G>T r.(?) p.(Arg61Leu) Unknown - VUS g.44065056C>A - ABCG5(NM_022436.3):c.182G>T (p.R61L) - ABCG5_000360 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.184C>A r.(?) p.(Gln62Lys) Unknown - likely benign g.44065054G>T - ABCG5(NM_022436.3):c.184C>A (p.Q62K) - ABCG5_000253 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.198G>A r.(?) p.(=) Unknown - likely benign g.44065040C>T - ABCG5(NM_022436.3):c.198G>A (p.R66=) - ABCG5_000373 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.219C>G r.(?) p.(Ser73=) Unknown - benign g.44065019G>C g.43837880G>C ABCG5(NM_022436.3):c.219C>G (p.S73=) - ABCG5_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.223T>C r.(?) p.(Tyr75His) Unknown - VUS g.44065015A>G - ABCG5(NM_022436.3):c.223T>C (p.Y75H) - ABCG5_000348 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.235G>A r.(?) p.(Gly79Arg) Unknown - VUS g.44065003C>T g.43837864C>T ABCG5(NM_022436.2):c.235G>A (p.(Gly79Arg)), ABCG5(NM_022436.3):c.235G>A (p.G79R) - ABCG5_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.235G>A r.(?) p.(Gly79Arg) Unknown - VUS g.44065003C>T g.43837864C>T ABCG5(NM_022436.2):c.235G>A (p.(Gly79Arg)), ABCG5(NM_022436.3):c.235G>A (p.G79R) - ABCG5_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.235G>A r.(?) p.(Gly79Arg) Unknown - VUS g.44065003C>T - ABCG5(NM_022436.2):c.235G>A (p.(Gly79Arg)), ABCG5(NM_022436.3):c.235G>A (p.G79R) - ABCG5_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.238C>A r.(?) p.(Gln80Lys) Unknown - VUS g.44065000G>T g.43837861G>T ABCG5(NM_022436.3):c.238C>A (p.Q80K) - ABCG5_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.242T>C r.(?) p.(Ile81Thr) Unknown - VUS g.44064996A>G g.43837857A>G ABCG5(NM_022436.3):c.242T>C (p.I81T) - ABCG5_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.245T>C r.(?) p.(Met82Thr) Unknown - likely pathogenic g.44064993A>G g.43837854A>G ABCG5(NM_022436.3):c.245T>C (p.M82T) - ABCG5_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.253del r.(?) p.(Leu85*) Unknown - pathogenic g.44064986del - ABCG5(NM_022436.3):c.253delC (p.L85*) - ABCG5_000287 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.265+10G>A r.(=) p.(=) Unknown - benign g.44064963C>T g.43837824C>T ABCG5(NM_022436.3):c.265+10G>A - ABCG5_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.265+10G>A r.(=) p.(=) Unknown - likely benign g.44064963C>T - ABCG5(NM_022436.3):c.265+10G>A - ABCG5_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.265+189C>T r.(=) p.(=) Unknown - likely benign g.44064784G>A - ABCG5(NM_022436.3):c.265+189C>T - ABCG5_000234 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.266-11T>C r.(=) p.(=) Unknown - VUS g.44059233A>G - ABCG5(NM_022436.3):c.266-11T>C - ABCG5_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.266-4G>T r.spl? p.? Unknown - VUS g.44059226C>A - ABCG5(NM_022436.3):c.266-4G>T - ABCG5_000233 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.266-3C>A r.spl? p.? Unknown - likely pathogenic g.44059225G>T g.43832086G>T ABCG5(NM_022436.3):c.266-3C>A - ABCG5_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.267C>T r.(?) p.(Gly89=) Unknown - likely benign g.44059221G>A - ABCG5(NM_022436.3):c.267C>T (p.G89=) - ABCG5_000300 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.281C>G r.(?) p.(Thr94Arg) Unknown - VUS g.44059207G>C - ABCG5(NM_022436.3):c.281C>G (p.T94R) - ABCG5_000252 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.282G>A r.(?) p.(=) Unknown - likely benign g.44059206C>T - ABCG5(NM_022436.3):c.282G>A (p.T94=) - ABCG5_000366 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.286C>G r.(?) p.(Leu96Val) Unknown - VUS g.44059202G>C - ABCG5(NM_022436.3):c.286C>G (p.L96V) - ABCG5_000286 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.292G>T r.(?) p.(Ala98Ser) Unknown - VUS g.44059196C>A g.43832057C>A ABCG5(NM_022436.3):c.292G>T (p.A98S) - ABCG5_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.293C>G r.(?) p.(Ala98Gly) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.293C>G r.(?) p.(Ala98Gly) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.293C>G r.(?) p.(Ala98Gly) Parent #1 - 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 - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 21 Mohammed Faruq
-/. - c.293C>G r.(?) p.(Ala98Gly) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.293C>G r.(?) p.(Ala98Gly) Unknown - VUS 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.296T>G r.(?) p.(Met99Arg) Paternal (confirmed) - VUS g.44059192A>C - - - ABCG5_000205 - - - - Germline - - - - - DNA SEQ-NG-I blood - STSL1 STSL_P23 - - M no China Chinese - - - low-phytosterol diet 1 Wenjuan Qiu
+?/. - c.307del r.(?) p.(Leu103Trpfs*13) Unknown - likely pathogenic g.44059181del - ABCG5(NM_022436.3):c.307delC (p.L103Wfs*13) - ABCG5_000372 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.317_318del r.(?) p.(Ala106Glyfs*91) Unknown - likely pathogenic g.44059175_44059176del - ABCG5(NM_022436.3):c.317_318delCG (p.A106Gfs*91) - ABCG5_000285 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.325T>C r.(?) p.(Phe109Leu) Unknown - likely benign g.44059163A>G g.43832024A>G ABCG5(NM_022436.3):c.325T>C (p.F109L) - ABCG5_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.341A>G r.(?) p.(Tyr114Cys) Unknown - likely benign g.44059147T>C - ABCG5(NM_022436.3):c.341A>G (p.Y114C) - ABCG5_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.349G>T r.(?) p.(Gly117Cys) Unknown - VUS g.44059139C>A - ABCG5(NM_022436.3):c.349G>T (p.G117C) - ABCG5_000365 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.352C>T r.(?) p.(Arg118Trp) Unknown - VUS g.44059136G>A - ABCG5(NM_022436.3):c.352C>T (p.R118W) - ABCG5_000284 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.353G>A r.(?) p.(Arg118Gln) Unknown - VUS g.44059135C>T - ABCG5(NM_022436.3):c.353G>A (p.R118Q) - ABCG5_000311 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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