Unique variants in the COL4A1 gene

Information The variants shown are described using the NM_001845.4 transcript reference sequence.

258 entries on 3 pages. Showing entries 1 - 100.
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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 - c.-1112G>A r.(?) p.(=) - likely benign, VUS g.110960486C>T g.110308139C>T COL4A2(NM_001846.2):c.99+16C>T (p.(=)), COL4A2(NM_001846.3):c.99+16C>T - COL4A2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/., ?/. 2 - c.-1100T>C r.(?) p.(=) - likely benign, VUS g.110960474A>G g.110308127A>G COL4A2(NM_001846.2):c.99+4A>G (p.?), COL4A2(NM_001846.3):c.99+4A>G - COL4A1_000203 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.-1029G>A r.(?) p.(=) - likely benign g.110960403C>T g.110308056C>T COL4A2(NM_001846.3):c.45-13C>T - COL4A2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-929G>A r.(?) p.(=) - likely benign g.110960303C>T g.110307956C>T COL4A2(NM_001846.3):c.44+9C>T - COL4A2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/., ?/. 2 - c.-90G>T r.(=), r.(?) p.(=) - benign, VUS g.110959464C>A g.110307117C>A - - COL4A1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Nijmegen
-?/. 1 - c.7C>A r.(?) p.(Pro3Thr) - likely benign g.110959368G>T g.110307021G>T COL4A1(NM_001845.5):c.7C>A (p.P3T) - COL4A1_000202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 3 - c.19G>C r.(?) p.(Val7Leu) - benign g.110959356C>G g.110307009C>G COL4A1(NM_001845.5):c.19G>C (p.V7L) - COL4A1_000052 Polyphen benign 0,0; also find in control, VKGL data sharing initiative Nederland - - rs9515185 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/. 1 - c.85-69T>C r.(=) p.(=) - VUS g.110895150A>G g.110242803A>G - - COL4A1_000057 - - - - Germline - - - - - Andreas Laner
-/. 3 - c.85-11T>C r.(=) p.(=) - benign g.110895092A>G g.110242745A>G COL4A1(NM_001845.5):c.85-11T>C - COL4A1_000056 VKGL data sharing initiative Nederland - - rs41275104 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/., -/., -?/. 3 - c.161C>T r.(?) p.(Pro54Leu) - benign, likely benign, pathogenic g.110866346G>A g.110213999G>A COL4A1(NM_001845.4):c.161C>T (p.(Pro54Leu)), COL4A1(NM_001845.6):c.161C>T (p.P54L) - COL4A1_000055 PolyPhen-2 :probably damaging (PSIC: 0.999), VKGL data sharing initiative Nederland - - rs34004222 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Leiden, VKGL-NL_Groningen
?/. 1 - c.191G>A r.(?) p.(Gly64Glu) - VUS g.110866316C>T g.110213969C>T COL4A1(NM_001845.5):c.191G>A (p.G64E) - COL4A1_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.196C>A r.(?) p.(Gln66Lys) - likely benign g.110866311G>T g.110213964G>T COL4A1(NM_001845.5):c.196C>A (p.Q66K) - COL4A1_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 5 - c.234+8C>T r.(=) p.(=) - benign g.110866265G>A g.110213918G>A COL4A1(NM_001845.5):c.234+8C>T, COL4A1(NM_001845.6):c.234+8C>T - COL4A1_000054 VKGL data sharing initiative Nederland - - rs9521650 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
?/. 1 - c.235-31C>A r.(=) p.(=) - VUS g.110866204G>T g.110213857G>T - - COL4A1_000067 - - - rs41275102 Germline - - - - - Andreas Laner
-/. 1 - c.235-23A>G r.(=) p.(=) - benign g.110866196T>C g.110213849T>C COL4A1(NM_001845.5):c.235-23A>G - COL4A1_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.279+20A>T r.(=) p.(=) - benign, likely benign g.110866109T>A g.110213762T>A COL4A1(NM_001845.4):c.279+20A>T (p.(=)), COL4A1(NM_001845.5):c.279+20A>T - COL4A1_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-/. 1 - c.280-156_280-155dup r.(=) p.(=) - benign g.110865122_110865123dup g.110212775_110212776dup COL4A1(NM_001845.5):c.280-156_280-155dupTG - COL4A1_000201 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.280-10G>A r.(=) p.(=) - benign g.110864975C>T g.110212628C>T COL4A1(NM_001845.5):c.280-10G>A - COL4A1_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.324+1G>A r.spl? p.? - pathogenic g.110864920C>T g.110212573C>T COL4A1(NM_001845.5):c.324+1G>A - COL4A1_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 - c.329T>C r.(?) p.(Ile110Thr) - likely benign, VUS g.110864822A>G - COL4A1(NM_001845.5):c.329T>C (p.I110T), COL4A1(NM_001845.6):c.329T>C (p.I110T) - COL4A1_000243 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
+?/. 1 6 c.337C>T r.(?) p.(Gln113Ter) - likely pathogenic g.110864814G>A g.110212467G>A - - COL4A1_000248 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.364A>C r.(?) p.(Ile122Leu) ACMG VUS g.110864787T>G - - - COL4A1_000258 ACMG: PM2_SUP, PP3 - - - Germline ? - - - - Andreas Laner
-?/. 1 - c.387+8C>T r.(=) p.(=) - likely benign g.110864756G>A - COL4A1(NM_001845.5):c.387+8C>T - COL4A1_000242 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.393G>A r.(?) p.(Glu131=) - likely benign g.110864264C>T g.110211917C>T COL4A1(NM_001845.4):c.393G>A (p.(Glu131=)), COL4A1(NM_001845.5):c.393G>A (p.E131=) - COL4A1_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-/. 4 - c.432T>A r.(=), r.(?) p.(=), p.(Ala144=) - benign g.110864225A>T g.110211878A>T COL4A1(NM_001845.5):c.432T>A (p.A144=), COL4A1(NM_001845.6):c.432T>A (p.A144=) - COL4A1_000066 also found in controls, VKGL data sharing initiative Nederland - - rs532625 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
+?/. 1 - c.442-1G>C r.spl? p.? - likely pathogenic g.110864021C>G g.110211674C>G - - COL4A1_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., -?/., ?/. 3 - c.468+15_468+19del r.(=) p.(=) - benign, likely benign, VUS g.110863985_110863989del g.110211638_110211642del COL4A1(NM_001845.4):c.468+15_468+19del (p.(=)), COL4A1(NM_001845.5):c.468+15_468+19delATTTT - COL4A1_000065 VKGL data sharing initiative Nederland - - rs150920503 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Leiden, VKGL-NL_Rotterdam
-/., -?/. 3 - c.501C>T r.(=), r.(?) p.(=), p.(Pro167=) - benign, likely benign g.110862527G>A g.110210180G>A COL4A1(NM_001845.4):c.501C>T (p.(Pro167=)), COL4A1(NM_001845.5):c.501C>T (p.P167=) - COL4A1_000026 VKGL data sharing initiative Nederland - - rs16975612 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Leiden, VKGL-NL_Rotterdam
+?/. 1 - c.502G>A r.(?) p.(Gly168Arg) - likely pathogenic g.110862526C>T g.110210179C>T - - COL4A1_000244 - PubMed: Huang 2015 - - Germline - - - - - LOVD
-?/. 1 - c.505A>T r.(?) p.(Met169Leu) - likely benign g.110862523T>A g.110210176T>A COL4A1(NM_001845.5):c.505A>T (p.M169L) - COL4A1_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.534C>T r.(?) p.(Pro178=) - likely benign g.110862494G>A g.110210147G>A COL4A1(NM_001845.4):c.534C>T (p.(=)) - COL4A1_000200 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.553-8C>T r.(=) p.(=) - likely benign g.110862397G>A - COL4A1(NM_001845.5):c.553-8C>T - COL4A1_000253 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 - c.615+24C>T r.(=) p.(=) - benign g.110862303G>A g.110209956G>A COL4A1(NM_001845.5):c.615+24C>T - COL4A1_000025 VKGL data sharing initiative Nederland - - rs9521649 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Rotterdam
-/. 1 - c.615+59T>G r.(=) p.(=) - benign g.110862268A>C g.110209921A>C - - COL4A1_000024 - - - rs2166207 Germline - - - - - Andreas Laner
-/. 4 - c.616-11G>C r.(=) p.(=) - benign g.110861785C>G g.110209438C>G COL4A1(NM_001845.5):c.616-11G>C, COL4A1(NM_001845.6):c.616-11G>C - COL4A1_000023 also found in controls, VKGL data sharing initiative Nederland - - rs645114 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
-?/. 1 - c.633C>T r.(?) p.(Pro211=) - likely benign g.110861757G>A - COL4A1(NM_001845.5):c.633C>T (p.P211=) - COL4A1_000241 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.634G>A r.(?) p.(Gly212Ser) - VUS g.110861756C>T g.110209409C>T - - COL4A1_000230 - PubMed: Zhu 2015 - - De novo - - - - - Johan den Dunnen
-?/. 1 - c.651+4_651+5insCAC r.spl? p.? - likely benign g.110861734_110861735insGTG - COL4A1(NM_001845.4):c.651+4_651+5insCAC (p.?) - COL4A1_000270 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.651+68A>C r.(=) p.(=) - benign g.110861671T>G g.110209324T>G COL4A1(NM_001845.5):c.651+68A>C - COL4A1_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.651+68A>G r.(=) p.(=) - benign g.110861671T>C g.110209324T>C - - COL4A1_000022 - - - rs7333204 Germline - - - - - Andreas Laner
-/. 2 - c.651+69C>T r.(=) p.(=) - benign g.110861670G>A g.110209323G>A COL4A1(NM_001845.5):c.651+69C>T - COL4A1_000021 VKGL data sharing initiative Nederland - - rs7332120 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Rotterdam
-/. 1 - c.651+87_651+88insTT r.(=) p.(=) - benign g.110861652_110861653insAA g.110209305_110209306insAA COL4A1(NM_001845.5):c.651+87_651+88insTT - COL4A1_000198 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.651+88C>T r.(=) p.(=) - benign g.110861651G>A g.110209304G>A - - COL4A1_000020 - - - rs61963269 Germline - - - - - Andreas Laner
-/. 1 - c.651+90C>G r.(=) p.(=) - benign g.110861649G>C g.110209302G>C COL4A1(NM_001845.5):c.651+90C>G - COL4A1_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.651+90_651+91insGT r.(=) p.(=) - benign g.110861648_110861649insAC g.110209301_110209302insAC - - COL4A1_000019 - - - rs67015393 Germline - - - - - Andreas Laner
?/. 1 - c.651+115_651+118dup r.(=) p.(=) - VUS g.110861621_110861624dup g.110209274_110209277dup - - COL4A1_000017 - - - - Germline - - - - - Andreas Laner
-/. 1 - c.651+117A>T r.(=) p.(=) - benign g.110861622T>A g.110209275T>A - - COL4A1_000018 - - - rs113512066 Germline - - - - - Andreas Laner
-/. 1 - c.651+179A>G r.(=) p.(=) - benign g.110861560T>C g.110209213T>C - - COL4A1_000016 - - - rs7333008 Germline - - - - - Andreas Laner
-/., -?/. 2 - c.690C>T r.(=), r.(?) p.(=), p.(Asp230=) - benign, likely benign g.110861199G>A g.110208852G>A COL4A1(NM_001845.5):c.690C>T (p.D230=) - COL4A1_000015 VKGL data sharing initiative Nederland - - rs14988210 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Rotterdam
-?/. 1 - c.694-5G>A r.spl? p.? - likely benign g.110859841C>T - COL4A1(NM_001845.5):c.694-5G>A - COL4A1_000240 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.708C>G r.(?) p.(Val236=) - likely benign g.110859822G>C - COL4A1(NM_001845.5):c.708C>G (p.V236=), COL4A1(NM_001845.6):c.708C>G (p.V236=) - COL4A1_000222 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-/. 4 - c.780+7G>A r.(=) p.(=) - benign g.110859743C>T g.110207396C>T COL4A1(NM_001845.5):c.780+7G>A, COL4A1(NM_001845.6):c.780+7G>A - COL4A1_000014 also found in controls, VKGL data sharing initiative Nederland - - rs598893 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
?/. 1 - c.780+60T>C r.(=) p.(=) - VUS g.110859690A>G g.110207343A>G - - COL4A1_000013 also found in controls - - - Germline - - - - - Andreas Laner
-/. 1 - c.807+69_807+70delinsA r.(=) p.(=) - benign g.110859142_110859143delinsT g.110206795_110206796delinsT COL4A1(NM_001845.5):c.807+69_807+70delTCinsA - COL4A1_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.808-28_808-27dup r.(=) p.(=) - benign g.110859090_110859091dup g.110206743_110206744dup COL4A1(NM_001845.5):c.808-28_808-27dupAA - COL4A1_000197 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.808-7C>A r.(=) p.(=) - benign, likely benign g.110859069G>T g.110206722G>T COL4A1(NM_001845.4):c.808-7C>A (p.(=)) - COL4A1_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Nijmegen
-/. 3 - c.808-7C>G r.(=) p.(=) - benign g.110859069G>C g.110206722G>C COL4A1(NM_001845.5):c.808-7C>G, COL4A1(NM_001845.6):c.808-7C>G - COL4A1_000012 VKGL data sharing initiative Nederland - - rs9588116 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 1 - c.811A>G r.(?) p.(Met271Val) - likely benign g.110859059T>C - COL4A1(NM_001845.6):c.811A>G (p.M271V) - COL4A1_000269 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.817G>C r.(?) p.(Gly273Arg) - VUS g.110859053C>G g.110206706C>G COL4A1(NM_001845.4):c.817G>C (p.(Gly273Arg)) - COL4A1_000196 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.858+20C>T r.(=) p.(=) - benign g.110858992G>A g.110206645G>A COL4A1(NM_001845.5):c.858+20C>T - COL4A1_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.859-22C>T r.(=) p.(=) - benign g.110857907G>A g.110205560G>A COL4A1(NM_001845.5):c.859-22C>T - COL4A1_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.859-15A>G r.(=) p.(=) - benign g.110857900T>C g.110205553T>C COL4A1(NM_001845.5):c.859-15A>G - COL4A1_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 4 - c.859-10T>C r.(=) p.(=) - benign g.110857895A>G g.110205548A>G COL4A1(NM_001845.5):c.859-10T>C, COL4A1(NM_001845.6):c.859-10T>C - COL4A1_000011 also found in controls, VKGL data sharing initiative Nederland - - rs677877 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
-/. 4 - c.903+18G>A r.(=) p.(=) - benign g.110857823C>T g.110205476C>T COL4A1(NM_001845.5):c.903+18G>A, COL4A1(NM_001845.6):c.903+18G>A - COL4A1_000010 also found in controls, VKGL data sharing initiative Nederland - - rs482757 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
-?/. 1 - c.904-14C>G r.(=) p.(=) - likely benign g.110857767G>C g.110205420G>C COL4A1(NM_001845.4):c.904-14C>G (p.(=)) - COL4A1_000215 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 3 - c.904-9C>T r.(=) p.(=) - likely benign g.110857762G>A g.110205415G>A 1 more item - COL4A1_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen
?/. 1 - c.911C>T r.(?) p.(Pro304Leu) - VUS g.110857746G>A g.110205399G>A COL4A1(NM_001845.4):c.911C>T (p.(Pro304Leu)) - COL4A1_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.922G>A r.(?) p.(Gly308Arg) - likely pathogenic g.110857735C>T g.110205388C>T COL4A1(NM_001845.5):c.922G>A (p.G308R) - COL4A1_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.943C>T r.(?) p.(Arg315Cys) - VUS g.110857714G>A g.110205367G>A COL4A1(NM_001845.4):c.943C>T (p.(Arg315Cys)) - COL4A1_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/., ?/. 2 - c.958-42del r.(=) p.(=) - benign, VUS g.110855998del g.110203651del COL4A1(NM_001845.5):c.958-42delT - COL4A1_000009 VKGL data sharing initiative Nederland - - rs77037 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Rotterdam
-?/. 1 - c.958-9C>T r.(=) p.(=) - likely benign g.110855963G>A g.110203616G>A COL4A1(NM_001845.4):c.958-9C>T (p.(=)) - COL4A1_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.958-4del r.spl? p.? - VUS g.110855958del g.110203611del COL4A1(NM_001845.4):c.958-4del (p.?) - COL4A1_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.970G>A r.(?) p.(Glu324Lys) - likely benign g.110855942C>T g.110203595C>T COL4A1(NM_001845.4):c.970G>A (p.(Glu324Lys)) - COL4A1_000193 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.1000-13C>G r.(=) p.(=) - benign g.110853882G>C g.110201535G>C COL4A1(NM_001845.5):c.1000-13C>G - COL4A1_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.1000-5T>G r.spl? p.? - likely benign g.110853874A>C g.110201527A>C COL4A1(NM_001845.4):c.1000-5T>G (p.?), COL4A1(NM_001845.6):c.1000-5T>G - COL4A1_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Groningen
+?/. 1 - c.1036_1037del r.(?) p.(Arg346Glyfs*43) - likely pathogenic g.110853837_110853838del - - - COL4A1_000239 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 2 - c.1084+5C>G r.spl? p.? - likely benign g.110853780G>C g.110201433G>C COL4A1(NM_001845.4):c.1084+5C>G (p.?), COL4A1(NM_001845.5):c.1084+5C>G - COL4A1_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.1084+19T>C r.(=) p.(=) - likely benign g.110853766A>G - COL4A1(NM_001845.4):c.1084+19T>C (p.(=)) - COL4A1_000268 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1084+90C>T r.(=) p.(=) - VUS g.110853695G>A g.110201348G>A - - COL4A1_000008 - - - - Germline - - - - - Andreas Laner
-/. 1 - c.1121-58A>G r.(=) p.(=) - benign g.110851036T>C g.110198689T>C - - COL4A1_000007 - - - rs7333008 Germline - - - - - Andreas Laner
-/. 1 - c.1121-36C>G r.(=) p.(=) - benign g.110851014G>C g.110198667G>C - - COL4A1_000006 also found in controls - - rs496916 Germline - - - - - Andreas Laner
-/., -?/. 3 - c.1121-18G>A r.(=) p.(=) - benign, likely benign g.110850996C>T g.110198649C>T 1 more item - COL4A1_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+?/. 1 - c.1144G>A r.(?) p.(Gly382Ser) ACMG likely pathogenic (recessive) g.110850955C>T g.110198608C>T - - COL4A1_000271 ACMG PM1, PM2, PP2, PP3, PP1 PubMed: Schuermans 2022 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.1181G>A r.(?) p.(Gly394Asp) - VUS g.110850918C>T g.110198571C>T COL4A1(NM_001845.6):c.1181G>A (p.G394D) - COL4A1_000217 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 2 - c.1239G>A r.(?) p.(Pro413=) - likely benign g.110850860C>T g.110198513C>T COL4A1(NM_001845.5):c.1239G>A (p.P413=), COL4A1(NM_001845.6):c.1239G>A (p.P413=) - COL4A1_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-/. 4 - c.1257T>C r.(=), r.(?) p.(=), p.(Pro419=) - benign g.110850842A>G g.110198495A>G COL4A1(NM_001845.5):c.1257T>C (p.P419=), COL4A1(NM_001845.6):c.1257T>C (p.P419=) - COL4A1_000005 VKGL data sharing initiative Nederland - - rs995224 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
?/. 1 - c.1268G>C r.(?) p.(Gly423Ala) - VUS g.110850831C>G g.110198484C>G - - COL4A1_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1285+27G>A r.(=) p.(=) - likely benign g.110850787C>T g.110198440C>T COL4A1(NM_001845.5):c.1285+27G>A - COL4A1_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1285+44A>G r.(=) p.(=) - benign g.110850770T>C g.110198423T>C - - COL4A1_000004 also found in controls - - rs683309 Germline - - - - - Andreas Laner
-/. 1 - c.1286-101G>A r.(=) p.(=) - benign g.110847566C>T g.110195219C>T - - COL4A1_000003 - - - rs9588112 Germline - - - - - Andreas Laner
?/. 1 - c.1382-54C>T r.(=) p.(=) - VUS g.110845314G>A g.110192967G>A - - COL4A1_000002 also found in controls - - - Germline - - - - - Andreas Laner
+?/., ?/. 3 - c.1420G>A r.(?) p.(Gly474Arg) - likely pathogenic, VUS g.110845222C>T g.110192875C>T COL4A1(NM_001845.4):c.1420G>A (p.(Gly474Arg)), COL4A1(NM_001845.5):c.1420G>A (p.G474R) - COL4A1_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_VUmc
?/. 1 23 c.1426C>T r.(?) p.(Arg476Trp) - VUS g.110845216G>A g.110192869G>A - - COL4A1_000247 - PubMed: Ganapathy 2019 - rs369960952 Germline - - - - - Johan den Dunnen
-/. 1 - c.1465+58T>C r.(=) p.(=) - benign g.110845119A>G g.110192772A>G - - COL4A1_000064 - - - rs17591246 Germline - - - - - Andreas Laner
-?/., ?/. 2 - c.1466-6C>T r.(=) p.(=) - likely benign, VUS g.110844637G>A g.110192290G>A COL4A1(NM_001845.5):c.1466-6C>T - COL4A1_000063 VKGL data sharing initiative Nederland - - rs183563055 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Rotterdam
-/. 1 - c.1466-5G>A r.spl? p.? - benign g.110844636C>T g.110192289C>T COL4A1(NM_001845.5):c.1466-5G>A - COL4A1_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 - c.1466-1G>C r.spl? p.? - likely benign, VUS g.110844632C>G g.110192285C>G COL4A1(NM_001845.5):c.1466-1G>C - COL4A1_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+?/. 1 - c.1492G>A r.(?) p.(Gly498Ser) - likely pathogenic g.110844605C>T - - - COL4A1_000252 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1536+567G>C r.(=) p.(=) - likely benign g.110843994C>G g.110191647C>G COL4A1(NM_001303110.1):c.1539G>C (p.L513F) - COL4A1_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1536+576A>G r.(=) p.(=) - benign g.110843985T>C g.110191638T>C COL4A1(NM_001845.6):c.1536+576A>G - COL4A1_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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