ABCG8 ATP binding cassette subfamily G member 8

Canonical transcript: NM_022437

184 unique variant annotations were identified in 428 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
2-44066174-T-A c.-19T>A - 5-UTRSNV 1/13 - 10
2-44066174-T-G c.-19T>G - 5-UTRSNV 1/13 - 10
2-44066226-C-G c.34C>G p.Pro12Ala Missense 1/13 - 3
2-44066228-G-A c.36G>A p.Pro12Pro Synonymous 1/13 - 1
2-44066228-G-C c.36G>C p.Pro12Pro Synonymous 1/13 - 1
2-44066228-G-T c.36G>T p.Pro12Pro Synonymous 1/13 - 1
2-44066239-C-T c.47C>T p.Thr16Ile Missense 1/13 - 1
2-44066243-C-A c.51C>A p.Pro17Pro Synonymous 1/13 - 3
2-44066243-C-G c.51C>G p.Pro17Pro Synonymous 1/13 - 3
2-44066243-C-T c.51C>T p.Pro17Pro Synonymous 1/13 - 3
2-44066247-G-A c.55G>A p.Asp19Asn Missense 1/13 - 35
2-44066247-G-C c.55G>C p.Asp19His Missense 1/13 - 92
2-44067169-G-A c.63+914G>A - IntronicSNV - 1/12 1
2-44067819-T-G c.63+1564T>G - IntronicSNV - 1/12 3
2-44068291-C-A c.63+2036C>A - IntronicSNV - 1/12 4
2-44068291-C-T c.63+2036C>T - IntronicSNV - 1/12 4
2-44068341-C-G c.63+2086C>G - IntronicSNV - 1/12 1
2-44068341-C-T c.63+2086C>T - IntronicSNV - 1/12 1
2-44069772-G-A c.64-1874G>A - IntronicSNV - 1/12 3
2-44069781-A-T c.64-1865A>T - IntronicSNV - 1/12 1
2-44070780-G-A c.64-866G>A - IntronicSNV - 1/12 1
2-44071712-C-T c.130C>T p.Pro44Ser Missense 2/13 - 1
2-44071729-C-T c.147C>T p.Val49Val Synonymous 2/13 - 1
2-44071730-AGA-TGT c.148_150delinsTGT p.Arg50Cys Missense 2/13 - 1
2-44071736-C-G c.154C>G p.Leu52Val Missense 2/13 - 1
2-44071743-A-G c.161A>G p.Tyr54Cys Missense 2/13 - 20
2-44072576-G-C c.166-718G>C - IntronicSNV - 2/12 103
2-44072576-G-T c.166-718G>T - IntronicSNV - 2/12 104
2-44073352-G-A c.224G>A p.Trp75* Nonsense 3/13 - 1
2-44073353-G-A c.225G>A p.Trp75* Nonsense 3/13 - 1
2-44073448-C-G c.320C>G p.Ser107* Nonsense 3/13 - 7
2-44073656-T-C c.322+206T>C - IntronicSNV - 3/12 13
2-44073881-T-C c.322+431T>C - IntronicSNV - 3/12 120
2-44074000-G-A c.322+550G>A - IntronicSNV - 3/12 19
2-44074431-C-A c.322+981C>A - IntronicSNV - 3/12 38
2-44074431-C-T c.322+981C>T - IntronicSNV - 3/12 39
2-44075483-T-C c.322+2033T>C - IntronicSNV - 3/12 6
2-44078761-C-T c.361C>T p.Arg121* Nonsense 4/13 - 2
2-44078792-A-G c.392A>G p.Gln131Arg Missense 4/13 - 1
2-44078819-C-T c.419C>T p.Ser140Leu Missense 4/13 - 1
2-44078853-G-A c.453G>A p.Val151Val Synonymous 4/13 - 3
2-44078853-G-T c.453G>T p.Val151Val Synonymous 4/13 - 3
2-44078890-C-T c.490C>T p.Arg164* Nonsense 4/13 - 2
2-44078899-CTTG-C c.499_501del p.Leu167del InFrameDeletion 4/13 - 1
2-44078904-C-T c.504C>T p.Ala168Ala Synonymous 4/13 - 1
2-44078914-C-T c.514C>T p.Gln172* Nonsense 4/13 - 2
2-44078950-C-T c.550C>T p.Arg184Cys Missense 4/13 - 1
2-44078951-G-A c.551G>A p.Arg184His Missense 4/13 - 3
2-44079004-T-C c.561+43T>C - IntronicSNV - 4/12 1
2-44079310-C-A c.562-183C>A - IntronicSNV - 4/12 4
2-44079401-G-A c.562-92G>A - IntronicSNV - 4/12 2
2-44079515-T-A c.584T>A p.Leu195Gln Missense 5/13 - 2
2-44079578-G-A c.647G>A p.Gly216Asp Missense 5/13 - 3
2-44079606-G-A c.675G>A p.Val225Val Synonymous 5/13 - 2
2-44079622-C-A c.691C>A p.Pro231Thr Missense 5/13 - 4
2-44079671-C-T c.694+46C>T - IntronicSNV - 5/12 1
2-44079746-A-C c.703A>C p.Ile235Leu Missense 6/13 - 1
2-44079755-G-A c.712G>A p.Glu238Lys Missense 6/13 - 3
2-44079755-GA-CT c.712_713delinsCT p.Glu238Leu Missense 6/13 - 3
2-44079772-C-CTT c.729_730insTT p.Asp244Leufs*10 Frameshift 6/13 - 1
2-44079819-C-T c.776C>T p.Ala259Val Missense 6/13 - 3
2-44079829-C-A c.786C>A p.Asn262Lys Missense 6/13 - 1
2-44079831-G-A c.788G>A p.Arg263Gln Missense 6/13 - 8
2-44079854-C-CC c.811dup p.Gln271Profs*5 Frameshift 6/13 - 1
2-44079855-A-G c.812A>G p.Gln271Arg Missense 6/13 - 1
2-44079930-C-T c.887C>T p.Ala296Val Missense 6/13 - 1
2-44079947-C-T c.904C>T p.Gln302* Nonsense 6/13 - 2
2-44079999-A-C c.956A>C p.Asp319Ala Missense 6/13 - 1
2-44080001-T-A c.958T>A p.Phe320Ile Missense 6/13 - 1
2-44080001-TT-GC c.958_959delinsGC p.Phe320Ala Missense 6/13 - 1
2-44080002-T-A c.959T>A p.Phe320Tyr Missense 6/13 - 1
2-44080324-A-G c.964+317A>G - IntronicSNV - 6/12 8
2-44081042-T-C c.964+1035T>C - IntronicSNV - 6/12 3
2-44081627-T-G c.964+1620T>G - IntronicSNV - 6/12 2
2-44082362-A-G c.964+2355A>G - IntronicSNV - 6/12 2
2-44082669-T-A c.964+2662T>A - IntronicSNV - 6/12 1
2-44084600-A-G c.964+4593A>G - IntronicSNV - 6/12 2
2-44084600-A-T c.964+4593A>T - IntronicSNV - 6/12 2
2-44086591-G-A c.964+6584G>A - IntronicSNV - 6/12 2
2-44086591-G-T c.964+6584G>T - IntronicSNV - 6/12 2
2-44087024-C-A c.964+7017C>A - IntronicSNV - 6/12 2
2-44087024-C-G c.964+7017C>G - IntronicSNV - 6/12 2
2-44091083-A-G c.965-8032A>G - IntronicSNV - 6/12 1
2-44092066-C-G c.965-7049C>G - IntronicSNV - 6/12 3
2-44092066-C-T c.965-7049C>T - IntronicSNV - 6/12 3
2-44092959-G-C c.965-6156G>C - IntronicSNV - 6/12 1
2-44092959-G-T c.965-6156G>T - IntronicSNV - 6/12 1
2-44096139-G-A c.965-2976G>A - IntronicSNV - 6/12 1
2-44096139-G-T c.965-2976G>T - IntronicSNV - 6/12 1
2-44096259-T-G c.965-2856T>G - IntronicSNV - 6/12 1
2-44096336-T-A c.965-2779T>A - IntronicSNV - 6/12 4
2-44096336-T-C c.965-2779T>C - IntronicSNV - 6/12 4
2-44096402-G-A c.965-2713G>A - IntronicSNV - 6/12 2
2-44096402-G-C c.965-2713G>C - IntronicSNV - 6/12 2
2-44096770-T-A c.965-2345T>A - IntronicSNV - 6/12 4
2-44096770-T-C c.965-2345T>C - IntronicSNV - 6/12 4
2-44097367-C-T c.965-1748C>T - IntronicSNV - 6/12 2
2-44099185-C-T c.1035C>T p.Leu345Leu Synonymous 7/13 - 1
2-44099233-G-A c.1083G>A p.Trp361* Nonsense 7/13 - 15
2-44099233-G-T c.1083G>T p.Trp361Cys Missense 7/13 - 1
2-44099382-CC-TG c.1148_1149delinsTG p.Thr383Met Missense 8/13 - 1
2-44099394-C-T c.1160C>T p.Pro387Leu Missense 8/13 - 1
2-44099433-C-A c.1199C>A p.Thr400Lys Missense 8/13 - 48
2-44099433-C-T c.1199C>T p.Thr400Met Missense 8/13 - 19
2-44099435-A-T c.1201A>T p.Thr401Ser Missense 8/13 - 4
2-44099582-G-A c.1211+137G>A - IntronicSNV - 8/12 7
2-44100015-T-A c.1211+570T>A - IntronicSNV - 8/12 1
2-44100077-G-A c.1211+632G>A - IntronicSNV - 8/12 2
2-44100849-T-C c.1212-77T>C - IntronicSNV - 8/12 2
2-44100871-G-A c.1212-55G>A - IntronicSNV - 8/12 2
2-44100928-G-A c.1214G>A p.Arg405His Missense 9/13 - 4
2-44100940-A-G c.1226A>G p.Asn409Ser Missense 9/13 - 1
2-44100940-A-T c.1226A>T p.Asn409Ile Missense 9/13 - 1
2-44100948-C-T c.1234C>T p.Arg412* Nonsense 9/13 - 3
2-44100970-T-A c.1256T>A p.Ile419Asn Missense 9/13 - 2
2-44100970-TC-AA c.1256_1257delinsAA p.Ile419Lys Missense 9/13 - 1
2-44100971-C-A c.1257C>A p.Ile419Ile Synonymous 9/13 - 1
2-44100983-G-C c.1269G>C p.Glu423Asp Missense 9/13 - 3
2-44100983-G-T c.1269G>T p.Glu423Asp Missense 9/13 - 3
2-44100999-A-G c.1285A>G p.Met429Val Missense 9/13 - 6
2-44101119-CTC-C c.1405_1406del p.Ser469Glnfs*12 Frameshift 9/13 - 2
2-44101229-A-G c.1411+104A>G - IntronicSNV - 9/12 1
2-44101430-T-A c.1412-116T>A - IntronicSNV - 9/12 4
2-44101430-T-C c.1412-116T>C - IntronicSNV - 9/12 4
2-44101430-T-G c.1412-116T>G - IntronicSNV - 9/12 4
2-44101578-AC-A c.1444del p.Leu482Trpfs*40 Frameshift 10/13 - 1
2-44101599-AC-TG c.1465_1466delinsTG p.Thr489Cys Missense 10/13 - 1
2-44101655-C-CCA c.1488+33_1488+34insCA - IntronicInsertion - 10/12 1
2-44101655-C-CCCA c.1488+33_1488+34insCCA - IntronicInsertion - 10/12 1
2-44101655-C-CCG c.1488+33_1488+34insCG - IntronicInsertion - 10/12 1
2-44101655-C-CG c.1488+33_1488+34insG - IntronicInsertion - 10/12 1
2-44101655-C-CT c.1488+33_1488+34insT - IntronicInsertion - 10/12 1
2-44101711-T-C c.1488+89T>C - IntronicSNV - 10/12 3
2-44101711-T-G c.1488+89T>G - IntronicSNV - 10/12 3
2-44101827-G-A c.1488+205G>A - IntronicSNV - 10/12 6
2-44101884-T-C c.1488+262T>C - IntronicSNV - 10/12 1
2-44102235-T-C c.1489-50T>C - IntronicSNV - 10/12 2
2-44102295-A-ATCTCGGGGGA c.1499_1500insTCTCGGGGGA p.Glu500Aspfs*105 Frameshift 11/13 - 1
2-44102298-T-C c.1502T>C p.Leu501Pro Missense 11/13 - 3
2-44102302-G-A c.1506G>A p.Pro502Pro Synonymous 11/13 - 1
2-44102302-G-T c.1506G>T p.Pro502Pro Synonymous 11/13 - 1
2-44102330-G-A c.1534G>A p.Gly512Arg Missense 11/13 - 1
2-44102330-G-C c.1534G>C p.Gly512Arg Missense 11/13 - 1
2-44102348-C-G c.1552C>G p.Leu518Val Missense 11/13 - 1
2-44102403-G-A c.1607G>A p.Trp536* Nonsense 11/13 - 2
2-44102404-G-A c.1608G>A p.Trp536* Nonsense 11/13 - 2
2-44102409-T-G c.1613T>G p.Val538Gly Missense 11/13 - 1
2-44102425-G-T c.1629G>T p.Arg543Ser Missense 11/13 - 7
2-44102436-T-C c.1640T>C p.Leu547Pro Missense 11/13 - 1
2-44102441-G-A c.1645G>A p.Ala549Thr Missense 11/13 - 1
2-44102441-G-C c.1645G>C p.Ala549Pro Missense 11/13 - 1
2-44102463-T-C c.1667T>C p.Phe556Ser Missense 11/13 - 1
2-44102491-C-A c.1695C>A p.Ala565Ala Synonymous 11/13 - 5
2-44102491-C-T c.1695C>T p.Ala565Ala Synonymous 11/13 - 5
2-44102505-TTCT-T c.1709_1711del p.Phe570del InFrameDeletion 11/13 - 1
2-44102511-T-C c.1715T>C p.Leu572Pro Missense 11/13 - 2
2-44102516-G-A c.1720G>A p.Gly574Arg Missense 11/13 - 12
2-44102517-G-A c.1721G>A p.Gly574Glu Missense 11/13 - 3
2-44102518-G-A c.1722G>A p.Gly574Gly Synonymous 11/13 - 1
2-44102518-G-C c.1722G>C p.Gly574Gly Synonymous 11/13 - 1
2-44102518-G-T c.1722G>T p.Gly574Gly Synonymous 11/13 - 1
2-44102519-G-C c.1723G>C p.Gly575Arg Missense 11/13 - 3
2-44102634-C-G c.1756+82C>G - IntronicSNV - 11/12 2
2-44102634-C-T c.1756+82C>T - IntronicSNV - 11/12 2
2-44103237-T-C c.1756+685T>C - IntronicSNV - 11/12 2
2-44103237-T-G c.1756+685T>G - IntronicSNV - 11/12 2
2-44104067-G-A c.1757-633G>A - IntronicSNV - 11/12 2
2-44104706-C-A c.1763C>A p.Ala588Glu Missense 12/13 - 1
2-44104728-C-T c.1785C>T p.Phe595Phe Synonymous 12/13 - 1
2-44104730-T-G c.1787T>G p.Leu596Arg Missense 12/13 - 3
2-44104733-G-T c.1790G>T p.Arg597Leu Missense 12/13 - 1
2-44104738-TG-AC c.1795_1796delinsAC p.Cys599Thr Missense 12/13 - 1
2-44104741-T-G c.1798T>G p.Phe600Val Missense 12/13 - 1
2-44104798-AAC-CAA c.1855_1857delinsCAA p.Asn619Gln Missense 12/13 - 1
2-44104925-T-A c.1895T>A p.Val632Asp Missense 13/13 - 15
2-44104925-T-C c.1895T>C p.Val632Ala Missense 13/13 - 19
2-44104925-T-G c.1895T>G p.Val632Gly Missense 13/13 - 15
2-44105004-C-G c.1974C>G p.Tyr658* Nonsense 13/13 - 3
2-44107701-T-C c.*2649T>C - IntergenicSNV 13/13 - 1
2-44107742-G-T c.*2690G>T - IntergenicSNV 13/13 - 4
2-44107961-C-T c.*2909C>T - IntergenicSNV 13/13 - 1
2-44109158-G-A c.*4106G>A - IntergenicSNV 13/13 - 2
2-44109158-G-C c.*4106G>C - IntergenicSNV 13/13 - 2
2-44109507-C-A c.*4455C>A - IntergenicSNV 13/13 - 1