Full data view for gene AGRN

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp)
Information The variants shown are described using the NM_198576.3 transcript reference sequence.

184 entries on 2 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.11G>C r.(?) p.(Arg4Pro) Unknown - likely benign g.955563G>C - AGRN(NM_198576.4):c.11G>C (p.(Arg4Pro)) - AGRN_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.45G>T r.(?) p.(=) Parent #1 - benign g.955597G>T g.1020217G>T - - AGRN_000026 - - - rs115173026 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-?/. - c.67G>C r.(?) p.(Val23Leu) Unknown - likely benign g.955619G>C - AGRN(NM_198576.4):c.67G>C (p.(Val23Leu)) - AGRN_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.67G>Y r.(?) p.(Val23Leu) Unknown - benign g.955619G>Y g.1020239G>Y Val23Leu - AGRN_000002 - PubMed: Huze 2009 - - Germline - 0.016 - - - DNA SEQ - - Healthy/Control - PubMed: Huze 2009 - - - - - - - - - 1 Johan den Dunnen
-/. 1 c.172G>A r.(?) p.(Asp58Asn) Unknown - benign g.955724G>A g.1020344G>A Asp58Asn - AGRN_000003 - PubMed: Huze 2009 - - Germline - 0.01 - - - DNA SEQ - - Healthy/Control - PubMed: Huze 2009 - - - - - - - - - 1 Johan den Dunnen
?/. - c.172G>A r.(?) p.(Asp58Asn) Unknown - VUS g.955724G>A - AGRN(NM_001305275.2):c.172G>A (p.D58N), AGRN(NM_198576.3):c.172G>A (p.(Asp58Asn)) - AGRN_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.172G>A r.(?) p.(Asp58Asn) Unknown - VUS g.955724G>A - AGRN(NM_001305275.2):c.172G>A (p.D58N), AGRN(NM_198576.3):c.172G>A (p.(Asp58Asn)) - AGRN_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.183G>C r.(?) p.(Gln61His) Unknown - VUS g.955735G>C - AGRN(NM_198576.3):c.183G>C (p.(Gln61His)) - AGRN_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.261C>T r.(?) p.(=) Unknown - benign g.957640C>T - AGRN(NM_198576.4):c.261C>T (p.(Asp87=)) - AGRN_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 2 c.314A>T r.(?) p.(Asn105Ile) Unknown - benign g.957693A>T g.1022313A>T Asp105Ile - AGRN_000004 - PubMed: Huze 2009 - - Germline - 0.01 - - - DNA SEQ - - Healthy/Control - PubMed: Huze 2009 - - - - - - - - - 1 Johan den Dunnen
-/. 2i c.463+56G>T r.(?) p.(=) Parent #1 - benign g.957898G>T g.1022518G>T - - AGRN_000025 - - - rs2799064 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.463+56G>T r.(=) p.(=) Unknown - benign g.957898G>T - - - AGRN_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.577G>A r.(?) p.(Ala193Thr) Unknown - likely benign g.976110G>A g.1040730G>A AGRN(NM_198576.3):c.577G>A (p.(Ala193Thr)) - AGRN_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.579G>A r.(?) p.(=) Unknown - likely benign g.976112G>A - AGRN(NM_198576.4):c.579G>A (p.(Ala193=)) - AGRN_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.596_598del r.(?) p.(Lys199del) Unknown - VUS g.976129_976131del - AGRN(NM_001305275.2):c.596_598delAGA (p.K199del), AGRN(NM_198576.3):c.592_594del (p.(Lys199del)) - AGRN_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.596_598del r.(?) p.(Lys199del) Unknown - likely benign g.976129_976131del - AGRN(NM_001305275.2):c.596_598delAGA (p.K199del), AGRN(NM_198576.3):c.592_594del (p.(Lys199del)) - AGRN_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.671A>C r.(?) p.(Gln224Pro) Unknown - VUS g.976204A>C - AGRN(NM_198576.4):c.671A>C (p.(Gln224Pro)) - AGRN_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.773C>T r.(?) p.(Thr258Ile) Unknown - likely benign g.976598C>T g.1041218C>T AGRN(NM_198576.3):c.773C>T (p.(Thr258Ile)) - AGRN_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 5 c.800C>T r.(?) p.(Thr267Met) Unknown - benign g.976625C>T g.1041245C>T Thr267Met - AGRN_000005 - PubMed: Huze 2009 - - Germline - 0.02 - - - DNA SEQ - - Healthy/Control - PubMed: Huze 2009 - - - - - - - - - 1 Johan den Dunnen
?/. - c.838C>T r.(?) p.(Pro280Ser) Unknown - VUS g.976663C>T g.1041283C>T AGRN(NM_001305275.2):c.838C>T (p.P280S) - AGRN_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.919G>A r.(?) p.(Glu307Lys) Unknown - likely benign g.976744G>A - AGRN(NM_198576.4):c.919G>A (p.(Glu307Lys)) - AGRN_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.970C>G r.(?) p.(Leu324Val) Unknown - likely benign g.976875C>G - AGRN(NM_198576.4):c.970C>G (p.(Leu324Val)) - AGRN_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.979C>T r.(?) p.(Pro327Ser) Unknown - likely benign g.976884C>T g.1041504C>T AGRN(NM_001364727.1):c.664C>T (p.P222S) - AGRN_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1058A>G r.(?) p.(Gln353Arg) Unknown - likely benign g.976963A>G - AGRN(NM_198576.4):c.1058A>G (p.(Gln353Arg)) - AGRN_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1061C>T r.(?) p.(Ala354Val) Unknown - VUS g.976966C>T - AGRN(NM_198576.3):c.1061C>T (p.(Ala354Val)) - AGRN_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 6 c.1123G>T r.(?) p.(Ala375Ser) Unknown - benign g.977028G>T g.1041648G>T Ala375Ser - AGRN_000006 - PubMed: Huze 2009 - - Germline - 0.01 - - - DNA SEQ - - Healthy/Control - PubMed: Huze 2009 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.1123G>T r.(?) p.(Ala375Ser) Unknown - likely benign g.977028G>T - AGRN(NM_198576.2):c.1123G>T (p.A375S) - AGRN_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1178-7G>A r.(=) p.(=) Unknown - likely benign g.977329G>A - AGRN(NM_001364727.1):c.863-7G>A - AGRN_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1178-6T>C r.(=) p.(=) Unknown - benign g.977330T>C g.1041950T>C AGRN(NM_198576.4):c.1178-6T>C - AGRN_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1331A>G r.(?) p.(Gln444Arg) Unknown - likely benign g.977489A>G - AGRN(NM_198576.3):c.1331A>G (p.(Gln444Arg)) - AGRN_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1434G>A r.(?) p.(Thr478=) Unknown - likely benign g.978668G>A g.1043288G>A AGRN(NM_001305275.2):c.1434G>A (p.T478=) - AGRN_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1479G>A r.(?) p.(Ala493=) Unknown - likely benign g.978713G>A - AGRN(NM_001305275.2):c.1479G>A (p.A493=), AGRN(NM_198576.3):c.1479G>A (p.(=)) - AGRN_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1479G>A r.(?) p.(Ala493=) Unknown - likely benign g.978713G>A - AGRN(NM_001305275.2):c.1479G>A (p.A493=), AGRN(NM_198576.3):c.1479G>A (p.(=)) - AGRN_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1528G>A r.(?) p.(Gly510Ser) Unknown - likely benign g.978762G>A g.1043382G>A AGRN(NM_198576.3):c.1528G>A (p.(Gly510Ser)), AGRN(NM_198576.4):c.1528G>A (p.G510S) - AGRN_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1528G>A r.(?) p.(Gly510Ser) Parent #1 - likely benign g.978762G>A g.1043382G>A - - AGRN_000051 12 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs138288952 Germline - 12/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 12 Mohammed Faruq
-?/. - c.1528G>A r.(?) p.(Gly510Ser) Unknown - likely benign g.978762G>A - AGRN(NM_198576.3):c.1528G>A (p.(Gly510Ser)), AGRN(NM_198576.4):c.1528G>A (p.G510S) - AGRN_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1540G>A r.(?) p.(Glu514Lys) Unknown - likely benign g.978774G>A - AGRN(NM_001364727.1):c.1225G>A (p.E409K), AGRN(NM_198576.4):c.1540G>A (p.(Glu514Lys)) - AGRN_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1540G>A r.(?) p.(Glu514Lys) Unknown - VUS g.978774G>A - AGRN(NM_001364727.1):c.1225G>A (p.E409K), AGRN(NM_198576.4):c.1540G>A (p.(Glu514Lys)) - AGRN_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1660G>A r.(?) p.(Val554Met) Parent #1 - likely benign g.978974G>A g.1043594G>A - - AGRN_000074 27 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs79016973 Germline - 27/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 27 Mohammed Faruq
-?/. - c.1660G>A r.(?) p.(Val554Met) Both (homozygous) - likely benign g.978974G>A g.1043594G>A - - AGRN_000074 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs79016973 Germline - 1/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-/. - c.1660G>A r.(?) p.(Val554Met) Unknown - benign g.978974G>A - AGRN(NM_198576.4):c.1660G>A (p.(Val554Met)) - AGRN_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1729G>A r.(?) p.(Glu577Lys) Unknown - VUS g.979043G>A - AGRN(NM_198576.3):c.1729G>A (p.(Glu577Lys)), AGRN(NM_198576.4):c.1729G>A (p.E577K) - AGRN_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1729G>A r.(?) p.(Glu577Lys) Unknown - VUS g.979043G>A - AGRN(NM_198576.3):c.1729G>A (p.(Glu577Lys)), AGRN(NM_198576.4):c.1729G>A (p.E577K) - AGRN_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1876C>G r.(?) p.(Pro626Ala) Unknown - VUS g.979280C>G g.1043900C>G AGRN(NM_001305275.2):c.1876C>G (p.P626A) - AGRN_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1945G>A r.(?) p.(Ala649Thr) Unknown - likely benign g.979349G>A - AGRN(NM_198576.4):c.1945G>A (p.(Ala649Thr)) - AGRN_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1993G>A r.(?) p.(Glu665Lys) Unknown - likely benign g.979397G>A g.1044017G>A AGRN(NM_001305275.2):c.1993G>A (p.E665K), AGRN(NM_198576.3):c.1993G>A (p.(Glu665Lys)) - AGRN_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1993G>A r.(?) p.(Glu665Lys) Unknown - likely benign g.979397G>A g.1044017G>A AGRN(NM_001305275.2):c.1993G>A (p.E665K), AGRN(NM_198576.3):c.1993G>A (p.(Glu665Lys)) - AGRN_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2063G>A r.(?) p.(Arg688Gln) Unknown - VUS g.979552G>A - AGRN(NM_001305275.2):c.2063G>A (p.R688Q) - AGRN_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 12 c.2183A>T r.(?) p.(Glu728Val) Unknown - benign g.979748A>T g.1044368A>T Glu728Val - AGRN_000007 - PubMed: Huze 2009 - - Germline - 0.021 - - - DNA SEQ - - Healthy/Control - PubMed: Huze 2009 - - - - - - - - - 1 Johan den Dunnen
-/. - c.2183A>T r.(?) p.(Glu728Val) Unknown - benign g.979748A>T g.1044368A>T AGRN(NM_198576.2):c.2183A>T (p.E728V), AGRN(NM_198576.4):c.2183A>T (p.(Glu728Val)) - AGRN_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2183A>T r.(?) p.(Glu728Val) Parent #1 - benign g.979748A>T g.1044368A>T - - AGRN_000007 119 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs113288277 Germline - 119/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 119 Mohammed Faruq
-/. - c.2183A>T r.(?) p.(Glu728Val) Unknown - benign g.979748A>T - AGRN(NM_198576.2):c.2183A>T (p.E728V), AGRN(NM_198576.4):c.2183A>T (p.(Glu728Val)) - AGRN_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2219G>A r.(?) p.(Arg740Gln) Unknown - likely benign g.979784G>A - AGRN(NM_198576.3):c.2219G>A (p.(Arg740Gln)) - AGRN_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2266G>A r.(?) p.(Ala756Thr) Unknown - VUS g.980552G>A - AGRN(NM_198576.2):c.2266G>A (p.A756T) - AGRN_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2271G>A r.(?) p.(Pro757=) Unknown - likely benign g.980557G>A - AGRN(NM_001364727.1):c.1956G>A (p.P652=) - AGRN_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2342C>A r.(?) p.(Ala781Asp) Unknown - VUS g.980628C>A - AGRN(NM_001305275.2):c.2342C>A (p.A781D) - AGRN_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2440dup r.(?) p.(Cys814LeufsTer11) Unknown - VUS g.980807dup g.1045427dup AGRN(NM_198576.3):c.2439_2440insT (p.(Cys814LeufsTer11)) - AGRN_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2457G>C r.(=) p.(=) Parent #1 - likely benign g.980824G>C g.1045444G>C - - AGRN_000075 58 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs112039851 Germline - 58/2789 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 58 Mohammed Faruq
-?/. - c.2457G>C r.(=) p.(=) Both (homozygous) - likely benign g.980824G>C g.1045444G>C - - AGRN_000075 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs112039851 Germline - 2/2789 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
?/. - c.2482C>G r.(?) p.(Pro828Ala) Unknown - VUS g.980849C>G - AGRN(NM_198576.4):c.2482C>G (p.(Pro828Ala)) - AGRN_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2501G>A r.(?) p.(Arg834Gln) Parent #1 - VUS g.980868G>A g.1045488G>A - - AGRN_000076 13 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs146243145 Germline - 13/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 13 Mohammed Faruq
?/. - c.2536C>T r.(?) p.(Pro846Ser) Unknown - VUS g.980903C>T - AGRN(NM_198576.3):c.2536C>T (p.(Pro846Ser)) - AGRN_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2536+3G>T r.spl? p.? Unknown - VUS g.980906G>T - - - AGRN_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 15 c.2555A>G r.(?) p.(Gln852Arg) Unknown - benign g.981131A>G g.1045751A>G Gln852Arg - AGRN_000008 - PubMed: Huze 2009 - rs9697293 Germline - 0.005 - - - DNA SEQ - - Healthy/Control - PubMed: Huze 2009 - - - - - - - - - 1 Johan den Dunnen
-/. - c.2555A>G r.(?) p.(Gln852Arg) Unknown - benign g.981131A>G - AGRN(NM_198576.4):c.2555A>G (p.(Gln852Arg)) - AGRN_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2631T>C r.(?) p.(Cys877=) Unknown - likely benign g.981207T>C g.1045827T>C AGRN(NM_198576.2):c.2631T>C (p.C877=) - AGRN_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2681-4C>T r.spl? p.? Unknown - likely benign g.981340C>T - AGRN(NM_001305275.1):c.2681-4C>T (p.?) - AGRN_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2690C>T r.(?) p.(Ala897Val) Unknown - likely benign g.981353C>T - AGRN(NM_001305275.1):c.2690C>T (p.(Ala897Val)) - AGRN_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2725G>A r.(?) p.(Gly909Ser) Unknown - VUS g.981388G>A g.1046008G>A AGRN(NM_198576.3):c.2725G>A (p.(Gly909Ser)) - AGRN_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2796C>T r.(?) p.(Asn932=) Unknown - likely benign g.981459C>T - AGRN(NM_198576.2):c.2796C>T (p.N932=) - AGRN_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2805+7G>A r.(=) p.(=) Unknown - likely benign g.981475G>A - AGRN(NM_198576.2):c.2805+7G>A - AGRN_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2829A>G r.(?) p.(Thr943=) Unknown - VUS g.981563A>G - AGRN(NM_001305275.2):c.2829A>G (p.T943=) - AGRN_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2860G>A r.(?) p.(Ala954Thr) Unknown - VUS g.981594G>A g.1046214G>A AGRN(NM_001305275.2):c.2860G>A (p.A954T) - AGRN_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2899G>C r.(?) p.(Gly967Arg) Unknown - VUS g.981633G>C g.1046253G>C AGRN(NM_001305275.2):c.2899G>C (p.G967R) - AGRN_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2949C>G r.(?) p.(Ser983=) Unknown - likely benign g.981814C>G - AGRN(NM_001364727.1):c.2634C>G (p.S878=) - AGRN_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 18 c.2950G>A r.(?) p.(Val984Met) Unknown - benign g.981815G>A g.1046435G>A Val984Met - AGRN_000009 - PubMed: Huze 2009 - - Germline - 0.01 - - - DNA SEQ - - Healthy/Control - PubMed: Huze 2009 - - - - - - - - - 1 Johan den Dunnen
?/. - c.2987C>A r.(?) p.(Ala996Glu) Unknown - VUS g.981852C>A - AGRN(NM_001364727.1):c.2672C>A (p.A891E) - AGRN_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3020C>G r.(?) p.(Ala1007Gly) Unknown ACMG VUS g.981885C>G g.1046505C>G - - AGRN_000078 no second variant detected - - - Germline - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
-/. - c.3066A>G r.(?) p.(Ser1022=) Unknown - benign g.981931A>G g.1046551A>G AGRN(NM_198576.4):c.3066A>G (p.S1022=) - AGRN_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3077C>A r.(?) p.(Thr1026Asn) Unknown - benign g.981942C>A - AGRN(NM_198576.4):c.3077C>A (p.(Thr1026Asn)) - AGRN_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3130A>G r.(?) p.(Thr1044Ala) Unknown - likely benign g.981995A>G g.1046615A>G AGRN(NM_001364727.1):c.2815A>G (p.T939A) - AGRN_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3162G>A r.(?) p.(=) Unknown - likely benign g.982027G>A - AGRN(NM_198576.4):c.3162G>A (p.(Ala1054=)) - AGRN_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3264G>C r.(?) p.(Leu1088Phe) Unknown - likely benign g.982213G>C g.1046833G>C AGRN(NM_001305275.1):c.3264G>C (p.(Leu1088Phe)) - AGRN_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 19 c.3264G>Y r.(?) p.(Leu1088Phe) Unknown - benign g.982213G>Y g.1046833G>Y Leu1088Phe - AGRN_000010 - PubMed: Huze 2009 - - Germline - 0.01 - - - DNA SEQ - - Healthy/Control - PubMed: Huze 2009 - - - - - - - - - 1 Johan den Dunnen
?/. - c.3325G>A r.(?) p.(Ala1109Thr) Unknown - VUS g.982274G>A - AGRN(NM_001305275.2):c.3325G>A (p.A1109T) - AGRN_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 19 c.3353C>A r.(?) p.(Thr1118Lys) Unknown - benign g.982302C>A g.1046922C>A Thr1118Lys - AGRN_000011 - PubMed: Huze 2009 - - Germline - 0.01 - - - DNA SEQ - - Healthy/Control - PubMed: Huze 2009 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.3389-3C>T r.spl? p.? Unknown - likely benign g.982704C>T - AGRN(NM_198576.2):c.3389-3C>T - AGRN_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 20 c.3404A>G r.(?) p.(Gln1135Arg) Unknown - benign g.982722A>G g.1047342A>G Gln1135Arg - AGRN_000012 - PubMed: Huze 2009 - - Germline - 0.016 - - - DNA SEQ - - Healthy/Control - PubMed: Huze 2009 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.3409G>A r.(?) p.(Val1137Ile) Unknown - likely benign g.982727G>A g.1047347G>A AGRN(NM_198576.3):c.3409G>A (p.(Val1137Ile)) - AGRN_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3419T>C r.(?) p.(Leu1140Pro) Unknown ACMG likely pathogenic g.982737T>C - - - AGRN_000112 - - - - Germline - - - - - DNA SEQ - - CMS8 11 - - - - - - - - - - 1 Martin Krenn
-?/. - c.3435C>T r.(?) p.(Gly1145=) Unknown - likely benign g.982753C>T - AGRN(NM_198576.2):c.3435C>T (p.G1145=) - AGRN_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3465T>C r.(?) p.(Ala1155=) Unknown - benign g.982783T>C - - - AGRN_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3517-12T>C r.(=) p.(=) Unknown - benign g.982941T>C g.1047561T>C AGRN(NM_198576.4):c.3517-12T>C - AGRN_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3533G>A r.(?) p.(Arg1178Gln) Unknown - likely benign g.982969G>A - AGRN(NM_198576.2):c.3533G>A (p.R1178Q) - AGRN_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3558T>C r.(?) p.(Phe1186=) Unknown - benign g.982994T>C g.1047614T>C AGRN(NM_198576.4):c.3558T>C (p.F1186=) - AGRN_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3602G>A r.(?) p.(Arg1201His) Unknown - VUS g.983038G>A - AGRN(NM_198576.4):c.3602G>A (p.(Arg1201His)) - AGRN_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3632-1G>A r.spl? p.? Unknown - pathogenic g.983155G>A g.1047775G>A - - AGRN_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3695G>A r.(?) p.(Arg1232His) Unknown - likely benign g.983219G>A - AGRN(NM_198576.4):c.3695G>A (p.(Arg1232His)) - AGRN_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 22 c.3719C>T r.(?) p.(Pro1240Leu) Unknown - benign g.983243C>T g.1047863C>T Pro1240Leu - AGRN_000013 - PubMed: Huze 2009 - - Germline - 0.01 - - - DNA SEQ - - Healthy/Control - PubMed: Huze 2009 - - - - - - - - - 1 Johan den Dunnen
?/. - c.3719C>T r.(?) p.(Pro1240Leu) Unknown - VUS g.983243C>T g.1047863C>T AGRN(NM_001305275.2):c.3719C>T (p.P1240L) - AGRN_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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