Unique variants in the AGL gene

Information The variants shown are described using the NM_000642.2 transcript reference sequence.

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Effect     

Reported     

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     
-/., -/? 2 2 c.-10A>G r.(?) p.(=) - benign g.100316589A>G g.99851033A>G -10G/A (ex3), AGL(NM_000028.2):c.-10A>G - AGL_000002 VKGL data sharing initiative Nederland PubMed: Shen 1997 - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_Groningen
+/. 1 - c.16C>T r.(?) p.(Gln6Ter) - pathogenic g.100316614C>T g.99851058C>T AGL(NM_000028.2):c.16C>T (p.Q6*) - AGL_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 2 - c.82+1565T>G r.(=) p.(=) - likely benign g.100318245T>G g.99852689T>G AGL(NM_000646.2):c.20T>G (p.(Ile7Ser), p.I7S) - AGL_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Utrecht
-/. 1 - c.83-33C>T r.(=) p.(=) - benign g.100327026C>T g.99861470C>T AGL(NM_000028.2):c.83-33C>T - AGL_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/? 1 3 c.94C>T r.(?) p.(Gln32*) - pathogenic g.100327070C>T g.99861514C>T - - AGL_000007 - PubMed: Shaiu 2000 - - Unknown - - - - - -
?/. 2 3 c.112A>G r.(?) p.(Thr38Ala) - VUS g.100327088A>G g.99861532A>G - - AGL_000016 - - - - Germline - - - - - Gerard C.P. Schaafsma, Johan den Dunnen
-?/. 1 - c.207T>C r.(=) p.(=) - likely benign g.100327183T>C g.99861627T>C - - AGL_000067 27 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2230305 Germline - 27/2792 individuals - - - Mohammed Faruq
+/., +/? 2 3 c.256C>T r.(?) p.(Gln86*), p.(Gln862*) - pathogenic, pathogenic (recessive) g.100327232C>T g.99861676C>T - - AGL_000008 - PubMed: Shaiu 2000, PubMed: Wang 2013 - - Germline, Unknown - - - - - -
+?/. 1 - c.294-2A>T r.spl? p.? - likely pathogenic g.100327811A>T g.99862255A>T - - AGL_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.344T>C r.(?) p.(Val115Ala) - VUS g.100327863T>C - AGL(NM_000028.2):c.344T>C (p.V115A) - AGL_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 4 c.378T>A r.(?) p.(Cys126*) - pathogenic g.100327897T>A g.99862341T>A - - AGL_000018 - - - - Germline/De novo (untested) ? - - - - François Petit
?/. 1 - c.405G>C r.(?) p.(Lys135Asn) - VUS g.100327924G>C g.99862368G>C - - AGL_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.443G>A r.(?) p.(Arg148Lys) - likely benign g.100327962G>A g.99862406G>A AGL(NM_000028.2):c.443G>A (p.(Arg148Lys)) - AGL_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.658C>T r.(?) p.(His220Tyr) - pathogenic (recessive) g.100330139C>T g.99864583C>T - - AGL_000078 - PubMed: Wang 2013 - - Germline - - - - - -
-?/. 1 - c.846+14G>A r.(=) p.(=) - likely benign g.100336151G>A g.99870595G>A AGL(NM_000028.2):c.846+14G>A - AGL_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.894C>T r.(?) p.(Leu298=) - benign g.100336361C>T g.99870805C>T AGL(NM_000028.2):c.894C>T (p.L298=) - AGL_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 1 - c.958+1G>A r.spl p.? - pathogenic (recessive) g.100336426G>A g.99870870G>A - - AGL_000056 in trans with c.1019delA - ClinVar-RCV000664741.1 rs1553184657 Germline - - - - - Jorge Docampo Cordeiro
-/. 1 - c.959-18G>A r.(=) p.(=) - benign g.100340225G>A g.99874669G>A AGL(NM_000028.2):c.959-18G>A - AGL_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 1 - c.1020del r.(?) p.(Glu340Aspfs*9) - pathogenic (recessive) g.100340304del g.99874748del 1020delA - AGL_000057 in trans with c.958+1G>A - - - Germline - - - - - Jorge Docampo Cordeiro
?/. 1 - c.1028G>A r.(?) p.(Arg343Gln) - VUS g.100340312G>A g.99874756G>A - - AGL_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1042G>A r.(?) p.(Val348Ile) - likely benign g.100340326G>A g.99874770G>A AGL(NM_000028.2):c.1042G>A (p.V348I) - AGL_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1076C>T r.(?) p.(Pro359Leu) - VUS g.100340360C>T g.99874804C>T - - AGL_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., -?/. 5 - c.1155G>T r.(?) p.(Lys385Asn) - benign, likely benign g.100340782G>T g.99875226G>T AGL(NM_000028.2):c.1155G>T (p.(Lys385Asn), p.K385N) - AGL_000030 2 homozygous; Clinindb (India), 24 heterozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs28730701 CLASSIFICATION record, Germline - 2/2794 individuals, 24/2794 individuals - - - VKGL-NL_Leiden, VKGL-NL_Groningen, VKGL-NL_Utrecht, Mohammed Faruq
-?/. 1 - c.1160G>A r.(?) p.(Arg387Gln) - likely benign g.100340787G>A g.99875231G>A AGL(NM_000028.2):c.1160G>A (p.(Arg387Gln)) - AGL_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 9 c.1183C>T r.(1183c>u) p.(Gln395*) - pathogenic g.100340810C>T g.99875254C>T - - AGL_000019 - - - - Germline/De novo (untested) ? - - - - François Petit
-/. 1 - c.1185+15T>C r.(=) p.(=) - benign g.100340827T>C g.99875271T>C AGL(NM_000028.2):c.1185+15T>C - AGL_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 - c.1186-3C>G r.spl? p.? - likely pathogenic g.100340911C>G g.99875355C>G AGL(NM_000028.2):c.1186-3C>G - AGL_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.1432G>A r.(?) p.(Val478Ile) - VUS g.100343205G>A g.99877649G>A AGL(NM_000028.2):c.1432G>A (p.V478I) - AGL_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1481G>A r.(?) p.(Arg494His) - likely benign g.100343254G>A g.99877698G>A - - AGL_000032 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs141043166 Germline - 1/2795 individuals - - - Mohammed Faruq
+?/. 1 - c.1505_1514del r.(?) p.(Cys502SerfsTer5) - likely pathogenic g.100343278_100343287del g.99877722_99877731del - - AGL_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1632dup r.(?) p.(Asn545Glufs*11) - pathogenic (recessive) g.100345499dup g.99879943dup 1632dupG - AGL_000069 - - - - Germline yes - - - - Shama Perveen
+/. 2 - c.1735+1G>T r.spl p.? - pathogenic (recessive) g.100345603G>T g.99880047G>T - - AGL_000079 - PubMed: Wang 2013 - - Germline - - - - - -
?/. 1 - c.1759C>T r.(?) p.(His587Tyr) - VUS g.100346211C>T g.99880655C>T - - AGL_000070 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs139488862 Germline - 1/2795 individuals - - - Mohammed Faruq
-?/. 1 - c.1875G>T r.(?) p.(Thr625=) - likely benign g.100346327G>T g.99880771G>T AGL(NM_000028.2):c.1875G>T (p.T625=) - AGL_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 - c.1877A>G r.(?) p.(His626Arg) - likely pathogenic g.100346329A>G g.99880773A>G AGL(NM_000642.2):c.1877A>G (p.H626R) - AGL_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/? 1 15 c.1939_1941del r.(?) p.(Val647del) - pathogenic g.100346671_100346673del g.99881115_99881117del 1937delTTG - AGL_000011 - PubMed: Shaiu 2000 - - Unknown - - - - - -
-/., -/? 2 15i c.2001+8T>C r.(=) p.(=) - benign g.100346741T>C g.99881185T>C AGL(NM_000028.2):c.2001+8T>C, IVS16+8C/T - AGL_000003 VKGL data sharing initiative Nederland PubMed: Shen 1997 - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_Groningen
+/. 1 15i c.2002-2A>G r.spl p.? - pathogenic g.100346846A>G g.99881290A>G - - AGL_000020 - - - - Germline/De novo (untested) yes - - - - François Petit
+/. 1 - c.2107_2108insA r.(?) p.(Cys703Ter) - pathogenic g.100346953_100346954insA g.99881397_99881398insA AGL(NM_000028.2):c.2107_2108insA (p.C703*) - AGL_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 1 - c.2155C>T r.(?) p.(Gln719*) - likely pathogenic g.100347001C>T g.99881445C>T - - AGL_000076 combination of variants not reported PubMed: Topf 2020 - - Germline - 2/1001 cases - - - Johan den Dunnen
?/. 1 - c.2161T>C r.(?) p.(Tyr721His) - VUS g.100347100T>C g.99881544T>C AGL(NM_000028.2):c.2161T>C (p.Y721H) - AGL_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2222A>G r.(?) p.(Gln741Arg) - VUS g.100347161A>G - AGL(NM_000028.2):c.2222A>G (p.Q741R) - AGL_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2308G>C r.(?) p.(Gly770Arg) - VUS g.100347247G>C g.99881691G>C - - AGL_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.2390A>G r.(?) p.(Asn797Ser) - VUS g.100349757A>G g.99884201A>G - - AGL_000037 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs149210307 Germline - 2/2792 individuals - - - Mohammed Faruq
-?/. 1 - c.2682T>A r.(?) p.(Ser894=) - likely benign g.100353534T>A g.99887978T>A - - AGL_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.2723T>G r.(?) p.(Leu908Arg) - pathogenic (recessive) g.100353575T>G g.99888019T>G - - AGL_000080 - PubMed: Wang 2013 - - Germline - - - - - -
-?/. 1 - c.2737T>A r.(?) p.(Ser913Thr) - likely benign g.100353589T>A g.99888033T>A AGL(NM_000028.2):c.2737T>A (p.(Ser913Thr)) - AGL_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.2812+11G>A r.(=) p.(=) - benign g.100353675G>A g.99888119G>A AGL(NM_000028.2):c.2812+11G>A - AGL_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.2883A>G r.(?) p.(Arg961=) - benign g.100356846A>G g.99891290A>G AGL(NM_000028.2):c.2883A>G (p.R961=) - AGL_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? 2 23, 25 c.3014del r.(?) p.(Cys1005PhefsTer7) - pathogenic g.100357226del g.99891670del - - AGL_000006 - PubMed: Shaiu 2000 - - Unknown - - - - - Shu Yau
?/. 1 25 c.3290G>A r.(?) p.(Arg1097His) - VUS g.100361872G>A g.99896316G>A - - AGL_000017 - PubMed: Neubauer 2017, Journal: Neubauer 2017 - rs185947256 Germline ? - - - - Cordula Haas
+?/. 1 25 c.3295T>C r.(3295u>c) p.(Trp1099Arg) - likely pathogenic g.100361877T>C g.99896321T>C - - AGL_000021 - - - - Germline/De novo (untested) yes - - - - François Petit
+/? 1 25 c.3343G>A r.(?) p.(Gly1115Arg) - pathogenic g.100361925G>A g.99896369G>A - - AGL_000009 - PubMed: Shaiu 2000 - - Unknown - - - - - -
-/. 1 - c.3384G>A r.(?) p.(Ala1128=) - benign g.100366213G>A g.99900657G>A AGL(NM_000028.2):c.3384G>A (p.A1128=) - AGL_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.3423_3424del r.(?) p.(Glu1142Argfs*24) - pathogenic g.100366252_100366253del g.99900696_99900697del 3423_3424delTG - AGL_000043 - - - - Uniparental disomy, paternal allele - - - - - Wenjuan Qiu
+/. 1 - c.3526A>T r.(?) p.(Lys1176*) - pathogenic (recessive) g.100366355A>T g.99900799A>T - - AGL_000068 - - - - Germline yes - - - - Shama Perveen
?/. 1 - c.3584C>G r.(?) p.(Thr1195Arg) - VUS g.100366413C>G g.99900857C>G - - AGL_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/? 1 27 c.3665del r.(?) p.(Ala1222ValfsTer5) - pathogenic g.100368315del g.99902759del - - AGL_000010 - PubMed: Shaiu 2000 - - Unknown - - - - - -
-?/. 1 - c.3668G>A r.(?) p.(Gly1223Asp) - likely benign g.100368318G>A g.99902762G>A - - AGL_000071 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs202046937 Germline - 1/2795 individuals - - - Mohammed Faruq
-?/. 1 - c.3738A>T r.(?) p.(Gly1246=) - likely benign g.100376305A>T g.99910749A>T AGL(NM_000028.2):c.3738A>T (p.G1246=) - AGL_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3764A>G r.(?) p.(Asn1255Ser) - VUS g.100376331A>G g.99910775A>G AGL(NM_000028.2):c.3764A>G (p.N1255S) - AGL_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 28 c.3777G>A r.(3777g>a) p.(Trp1259*) - pathogenic g.100376344G>A g.99910788G>A - - AGL_000022 - - - - Germline/De novo (untested) yes - - - - François Petit
-?/. 1 - c.3849T>C r.(=) p.(=) - likely benign g.100377973T>C g.99912417T>C - - AGL_000072 26 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs28730706 Germline - 26/2795 individuals - - - Mohammed Faruq
+?/. 1 - c.3890del r.(?) p.(Leu1297Cysfs*17) - likely pathogenic g.100378014del g.99912458del - - AGL_000077 combination of variants not reported PubMed: Topf 2020 - - Germline - 2/1001 cases - - - Johan den Dunnen
+/? 3 29 c.3911dup r.(?) p.(Asn1304LysfsTer7) - pathogenic g.100378035dup g.99912479dup 3904insA - AGL_000005 - PubMed: Pavari 1998 - - Unknown - - - - - Shu Yau
+/? 5 30 c.3965del r.(?), r.3965del p.(Val1322AlafsTer27) - pathogenic g.100379098del g.99913542del 3964delT - AGL_000012 - PubMed: Shaiu 2000 - - Unknown - - AvaII- - - -
+/? 1 31 c.4221dup r.(?) p.(Leu1408IlefsTer14) - pathogenic g.100381004dup g.99915448dup 4214insA - AGL_000005 - PubMed: Pavari 1998 - - Unknown - - - - - -
+/?, +?/. 9 31i c.4260-12A>G r.(=), r.4259_4260ins4260-11_4260-1, r.spl? p.(=), p.(Phe1420Hisfs*16), p.Phe1420Hisfs*16 - likely pathogenic, pathogenic g.100381954A>G g.99916398A>G - - AGL_000004 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020, PubMed: Okubo 1998, PubMed: Shaiu 2000 - rs369973784 Germline, Unknown - 1/2788 individuals - - - Shu Yau, Mohammed Faruq
?/. 1 - c.4331A>G r.(?) p.(Asn1444Ser) - VUS g.100382037A>G g.99916481A>G - - AGL_000073 conflicting interpretations of pathogenicity; 21 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs143815159 Germline - 21/2791 individuals - - - Mohammed Faruq
+/., +/? 4 34 c.4529dup r.(?) p.(Tyr1510*), p.(Tyr1510Ter) - pathogenic g.100387137dup g.99921581dup 4529insA (ex35), AGL(NM_000028.2):c.4529dupA (p.Y1510*) - AGL_000001, AGL_000055 VKGL data sharing initiative Nederland PubMed: Shen 1997 - - CLASSIFICATION record, Unknown - - RsaI- - - VKGL-NL_Groningen, Shu Yau
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