All variants in the ADAR gene

Information The variants shown are described using the NM_001111.4 transcript reference sequence.

161 entries on 2 pages. Showing entries 1 - 100.
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Effect     

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     
+/. - c.-21583C>G r.(?) p.(=) - pathogenic g.154602065G>C - ADAR(NM_001111.5):c.577C>G (p.(Pro193Ala)) - ADAR_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-19896T>G r.(?) p.(=) - likely benign g.154600378A>C g.154627902A>C ADAR(NM_001025107.3):c.-918T>G - ADAR_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.-19890T>C r.(?) p.(=) - benign g.154600372A>G g.154627896A>G ADAR(NM_001025107.3):c.-912T>C - ADAR_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.3G>T r.(?) p.? - VUS g.154580480C>A - ADAR(NM_001111.5):c.3G>T (p.(Met1?)) - ADAR_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.9G>A r.(?) p.(Pro3=) - likely benign g.154580474C>T g.154607998C>T ADAR(NM_001111.5):c.9G>A (p.P3=) - ADAR_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.15+10G>T r.(=) p.(=) - benign g.154580458C>A g.154607982C>A ADAR(NM_001111.5):c.15+10G>T - ADAR_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.15+10G>T r.(=) p.(=) - benign g.154580458C>A - ADAR(NM_001111.5):c.15+10G>T - ADAR_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.78G>A r.(?) p.(Arg26=) - benign g.154575040C>T g.154602564C>T ADAR(NM_001111.5):c.78G>A (p.R26=) - ADAR_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.78G>A r.(?) p.(Arg26=) - benign g.154575040C>T - ADAR(NM_001111.5):c.78G>A (p.R26=) - ADAR_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.164C>T r.(?) p.(Pro55Leu) - VUS g.154574954G>A g.154602478G>A ADAR(NM_001111.5):c.164C>T (p.P55L) - ADAR_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.164C>T r.(?) p.(Pro55Leu) - VUS g.154574954G>A - ADAR(NM_001111.5):c.164C>T (p.P55L) - ADAR_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.192G>A r.(?) p.(Leu64=) - likely benign g.154574926C>T g.154602450C>T ADAR(NM_001111.5):c.192G>A (p.L64=) - ADAR_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 c.271_272del r.0? p.0? - pathogenic (dominant) g.154574846_154574847del g.154602370_154602371del 271_272delAG - ADAR_000050 causes nonsense mediated decay of mRNA coding for p150 protein isoform but does not affect expression of p110 PubMed: Zhang 2013 - - Germline yes - - - - Alan Herbert
?/. - c.289G>A r.(?) p.(Val97Met) - VUS g.154574829C>T g.154602353C>T ADAR(NM_001111.5):c.289G>A (p.V97M) - ADAR_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.298= r.(=) p.(Gly100=) - benign g.154574820T>C - ADAR(NM_001111.5):c.298A>G (p.R100G) - ADAR_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.298= r.(=) p.(Gly100=) - benign g.154574820T>C - ADAR(NM_001111.5):c.298A>G (p.R100G) - ADAR_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.487G>A r.(?) p.(Gly163Arg) - VUS g.154574631C>T g.154602155C>T ADAR(NM_001111.5):c.487G>A (p.G163R) - ADAR_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.487G>A r.(?) p.(Gly163Arg) - likely benign g.154574631C>T g.154602155C>T ADAR(NM_001111.5):c.487G>A (p.G163R) - ADAR_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.518A>G r.(?) p.(Asn173Ser) - likely benign g.154574600T>C g.154602124T>C ADAR(NM_001111.5):c.518A>G (p.N173S) - ADAR_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.521G>A r.(?) p.(Arg174Gln) - likely benign g.154574597C>T g.154602121C>T ADAR(NM_001111.4):c.521G>A (p.(Arg174Gln)) - ADAR_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 2 c.524T>A r.(?) p.(Val175Asp) - VUS g.154574594A>T g.154602118A>T - - ADAR_000086 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
+/. 2 c.556C>T r.0? p.0? - pathogenic (dominant) g.154574562G>A g.154602086G>A - - ADAR_000051 causes nonsense mediated decay of mRNA for p150 protein isoform, does not mRNA for p110 expressed normally PubMed: Liu 2014 - - Germline yes - - - - Alan Herbert
+?/+? 2 c.577C>G r.(?) p.(Pro193Ala) - likely pathogenic g.154574541G>C g.154602065G>C - - ADAR_000001 - PubMed: Rice 2012 - - Germline - - - - - Johan den Dunnen
+?/+? 2 c.577C>G r.(?) p.(Pro193Ala) - likely pathogenic g.154574541G>C g.154602065G>C - - ADAR_000001 - PubMed: Rice 2012 - - Germline - - - - - Johan den Dunnen
+?/+ 2 c.577C>G r.(?) p.(Pro193Ala) - likely pathogenic g.154574541G>C g.154602065G>C - - ADAR_000001 - PubMed: Rice 2012 - - Germline - - - - - Johan den Dunnen
+?/+ 2 c.577C>G r.(?) p.(Pro193Ala) - likely pathogenic g.154574541G>C g.154602065G>C - - ADAR_000001 - PubMed: Rice 2012 - - Germline - - - - - Johan den Dunnen
+?/+? 2 c.577C>G r.(?) p.(Pro193Ala) - likely pathogenic g.154574541G>C g.154602065G>C - - ADAR_000001 - PubMed: Rice 2012 - - Germline - - - - - Johan den Dunnen
+?/+? 2 c.577C>G r.(?) p.(Pro193Ala) - likely pathogenic g.154574541G>C g.154602065G>C - - ADAR_000001 - PubMed: Rice 2012 - - Germline - - - - - Johan den Dunnen
?/. - c.577C>G r.(?) p.(Pro193Ala) - VUS g.154574541G>C g.154602065G>C ADAR(NM_001111.5):c.577C>G (p.P193A, p.(Pro193Ala)) - ADAR_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.577C>G r.(?) p.(Pro193Ala) - VUS g.154574541G>C g.154602065G>C ADAR(NM_001111.5):c.577C>G (p.P193A, p.(Pro193Ala)) - ADAR_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.577C>G r.(?) p.(Pro193Ala) - VUS g.154574541G>C g.154602065G>C ADAR(NM_001111.5):c.577C>G (p.P193A, p.(Pro193Ala)) - ADAR_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.577C>G r.(?) p.(Pro193Ala) - pathogenic g.154574541G>C g.154602065G>C ADAR(NM_001111.5):c.577C>G (p.P193A, p.(Pro193Ala)) - ADAR_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.577C>G r.(?) p.(Pro193Ala) - pathogenic g.154574541G>C g.154602065G>C - - ADAR_000001 - PubMed: Pronicka 2016 - - Germline - 1/113 cases - - - Johan den Dunnen
?/. - c.577C>G r.(?) p.(Pro193Ala) - VUS g.154574541G>C g.154602065G>C - - ADAR_000001 conflicting interpretations of pathogenicity; 7 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs145588689 Germline - 7/2795 individuals - - - Mohammed Faruq
?/. - c.577C>G r.(?) p.(Pro193Ala) - VUS g.154574541G>C g.154602065G>C - - ADAR_000001 conflicting interpretations of pathogenicity; 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs145588689 Germline - 1/2795 individuals - - - Mohammed Faruq
+/. - c.577C>G r.(?) p.(Pro193Ala) - pathogenic g.154574541G>C - ADAR(NM_001111.5):c.577C>G (p.P193A, p.(Pro193Ala)) - ADAR_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.577C>T r.(?) p.(Pro193Ser) - VUS g.154574541G>A g.154602065G>A ADAR(NM_001111.5):c.577C>T (p.P193S) - ADAR_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.674C>T r.(?) p.(Pro225Leu) - likely benign g.154574444G>A - ADAR(NM_001111.4):c.674C>T (p.(Pro225Leu)) - ADAR_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.675G>A r.(?) p.(Pro225=) - likely benign g.154574443C>T g.154601967C>T ADAR(NM_001111.5):c.675G>A (p.P225=) - ADAR_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.675G>A r.(?) p.(Pro225=) - likely benign g.154574443C>T g.154601967C>T ADAR(NM_001111.5):c.675G>A (p.P225=) - ADAR_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.696A>C r.(?) p.(Arg232Ser) - VUS g.154574422T>G g.154601946T>G ADAR(NM_001111.5):c.696A>C (p.R232S) - ADAR_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.700T>G r.(?) p.(Ser234Ala) - VUS g.154574418A>C - ADAR(NM_001111.4):c.700T>G (p.(Ser234Ala)) - ADAR_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.748G>T r.(?) p.(Ala250Ser) - likely benign g.154574370C>A g.154601894C>A ADAR(NM_001111.5):c.748G>T (p.A250S) - ADAR_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.772G>A r.(?) p.(Gly258Arg) - likely benign g.154574346C>T - ADAR(NM_001111.5):c.772G>A (p.G258R) - ADAR_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 2 c.788_791del r.(?) p.(Asp263ValfsTer31) - likely pathogenic g.154574330_154574333del g.154601854_154601857del - - ADAR_000085 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
?/. - c.905A>C r.(?) p.(Lys302Thr) - VUS g.154574213T>G g.154601737T>G ADAR(NM_001193495.2):c.20A>C (p.K7T) - ADAR_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.989T>C r.(?) p.(Ile330Thr) - VUS g.154574129A>G g.154601653A>G ADAR(NM_001193495.2):c.104T>C (p.I35T) - ADAR_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1003A>T r.(?) p.(Ile335Phe) - likely benign g.154574115T>A g.154601639T>A ADAR(NM_001193495.2):c.118A>T (p.I40F) - ADAR_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1042A>G r.(?) p.(Thr348Ala) - VUS g.154574076T>C g.154601600T>C ADAR(NM_001025107.2):c.157A>G (p.(Thr53Ala)) - ADAR_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.1069_1072del r.(?) p.(Asp357Argfs*47) - pathogenic (dominant) g.154574050_154574053del g.154601574_154601577del 1065_1068delGACA - ADAR_000054 - PubMed: Liu 2014 - - Germline yes - - - - Johan den Dunnen
+?/+ 2 c.1076_1080del r.(?) p.(Lys359Argfs*14) - likely pathogenic g.154574040_154574044del g.154601564_154601568del - - ADAR_000010 - PubMed: Rice 2012 - - Germline - - - - - Johan den Dunnen
+/. - c.1078C>T r.(?) p.(Arg360*) - pathogenic g.154574040G>A - ADAR(NM_001111.5):c.1078C>T (p.R360*) - ADAR_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1125C>T r.(?) p.(Thr375=) - likely benign g.154573993G>A g.154601517G>A ADAR(NM_001193495.2):c.240C>T (p.T80=) - ADAR_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1151A>G r.(?) p.(Lys384Arg) - benign g.154573967T>C g.154601491T>C ADAR(NM_001193495.2):c.266A>G (p.K89R) - ADAR_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.1151A>G r.(?) p.(Lys384Arg) - benign g.154573967T>C - ADAR(NM_001193495.2):c.266A>G (p.K89R) - ADAR_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.1153del r.(?) p.(Arg385Glufs*20) - VUS g.154573968del - ADAR(NM_001111.5):c.1153del (p.(Arg385Glufs*20)) - ADAR_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1158C>T r.(?) p.(Asn386=) - likely benign g.154573960G>A - ADAR(NM_001111.5):c.1158C>T (p.N386=) - ADAR_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1395T>C r.(?) p.(Ser465=) - likely benign g.154573723A>G - ADAR(NM_001111.5):c.1395T>C (p.S465=) - ADAR_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1400G>A r.(?) p.(Arg467His) - likely benign g.154573718C>T g.154601242C>T ADAR(NM_001193495.2):c.515G>A (p.R172H) - ADAR_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1445T>C r.(?) p.(Phe482Ser) - VUS g.154573673A>G - ADAR(NM_001111.5):c.1445T>C (p.(Phe482Ser)) - ADAR_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1465C>T r.(?) p.(Arg489Trp) - VUS g.154573653G>A g.154601177G>A ADAR(NM_001193495.2):c.580C>T (p.R194W) - ADAR_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1518C>T r.(?) p.(Ser506=) - likely benign g.154573600G>A g.154601124G>A ADAR(NM_001193495.2):c.633C>T (p.S211=) - ADAR_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1591C>G r.(?) p.(His531Asp) - likely benign g.154573527G>C - ADAR(NM_001193495.1):c.706C>G (p.(Pro236Ala)) - ADAR_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.1601G>A r.1412_1601del p.Gly471Aspfs*30 - pathogenic (dominant) g.154573517C>T g.154601041C>T - - ADAR_000055 - PubMed: Liu 2014 - - Germline yes - - - - Johan den Dunnen
-?/. - c.1602-6G>A r.(=) p.(=) - likely benign g.154571067C>T - ADAR(NM_001111.5):c.1602-6G>A - ADAR_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1625A>G r.(?) p.(Asn542Ser) - likely benign g.154571038T>C g.154598562T>C ADAR(NM_001025107.2):c.740A>G (p.(Asn247Ser)), ADAR(NM_001193495.2):c.740A>G (p.N247S) - ADAR_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1625A>G r.(?) p.(Asn542Ser) - likely benign g.154571038T>C g.154598562T>C ADAR(NM_001025107.2):c.740A>G (p.(Asn247Ser)), ADAR(NM_001193495.2):c.740A>G (p.N247S) - ADAR_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1625A>G r.(?) p.(Asn542Ser) - likely benign g.154571038T>C g.154598562T>C ADAR(NM_001025107.2):c.740A>G (p.(Asn247Ser)), ADAR(NM_001193495.2):c.740A>G (p.N247S) - ADAR_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1687A>G r.(?) p.(Met563Val) - VUS g.154570976T>C g.154598500T>C ADAR(NM_001193495.2):c.802A>G (p.M268V) - ADAR_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1725C>T r.(?) p.(Ala575=) - likely benign g.154570938G>A g.154598462G>A ADAR(NM_001193495.2):c.840C>T (p.A280=) - ADAR_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1725C>T r.(?) p.(Ala575=) - likely benign g.154570938G>A g.154598462G>A ADAR(NM_001193495.2):c.840C>T (p.A280=) - ADAR_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1757A>G r.(?) p.(His586Arg) - likely benign g.154570906T>C g.154598430T>C ADAR(NM_001193495.2):c.872A>G (p.H291R) - ADAR_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1760A>G r.(?) p.(Tyr587Cys) - benign g.154570903T>C - ADAR(NM_001111.5):c.1760A>G (p.Y587C) - ADAR_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.1760A>G r.(?) p.(Tyr587Cys) - benign g.154570903T>C - ADAR(NM_001111.5):c.1760A>G (p.Y587C) - ADAR_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1766C>G r.(?) p.(Thr589Arg) - likely benign g.154570897G>C g.154598421G>C ADAR(NM_001193495.2):c.881C>G (p.T294R) - ADAR_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1845C>T r.(?) p.(Pro615=) - likely benign g.154570393G>A - ADAR(NM_001111.5):c.1845C>T (p.P615=) - ADAR_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1846G>A r.(?) p.(Val616Ile) - VUS g.154570392C>T - ADAR(NM_001111.5):c.1846G>A (p.V616I) - ADAR_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1926T>C r.(?) p.(His642=) - likely benign g.154570312A>G g.154597836A>G ADAR(NM_001193495.2):c.1041T>C (p.H347=) - ADAR_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1926T>C r.(?) p.(His642=) - likely benign g.154570312A>G g.154597836A>G ADAR(NM_001193495.2):c.1041T>C (p.H347=) - ADAR_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1926T>C r.(?) p.(His642=) - likely benign g.154570312A>G g.154597836A>G ADAR(NM_001193495.2):c.1041T>C (p.H347=) - ADAR_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1934+8C>T r.(=) p.(=) - likely benign g.154570296G>A g.154597820G>A ADAR(NM_001111.5):c.1934+8C>T, ADAR(NM_001193495.2):c.1049+8C>T - ADAR_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1934+8C>T r.(=) p.(=) - likely benign g.154570296G>A - ADAR(NM_001111.5):c.1934+8C>T, ADAR(NM_001193495.2):c.1049+8C>T - ADAR_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1935-20C>T r.(=) p.(=) - likely benign g.154569763G>A g.154597287G>A ADAR(NM_001111.5):c.1935-20C>T, ADAR(NM_001193495.2):c.1050-20C>T - ADAR_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1935-20C>T r.(=) p.(=) - likely benign g.154569763G>A - ADAR(NM_001111.5):c.1935-20C>T, ADAR(NM_001193495.2):c.1050-20C>T - ADAR_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1935-19G>A r.(=) p.(=) - likely benign g.154569762C>T - ADAR(NM_001111.5):c.1935-19G>A - ADAR_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.1937_1938insGT r.(?) p.(Phe646Leufs*16) - pathogenic (dominant) g.154569741_154569742insCA g.154597265_154597266insCA 1936_1937insTG - ADAR_000053 - PubMed: Liu 2014 - - Germline yes - - - - Johan den Dunnen
-?/. - c.2052G>A r.(?) p.(Ala684=) - likely benign g.154569626C>T - ADAR(NM_001193495.2):c.1167G>A (p.A389=) - ADAR_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2079+7C>T r.(=) p.(=) - likely benign g.154569592G>A - ADAR(NM_001193495.2):c.1194+7C>T - ADAR_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2079+8G>A r.(=) p.(=) - likely benign g.154569591C>T - ADAR(NM_001111.5):c.2079+8G>A - ADAR_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2079+19C>T r.(=) p.(=) - likely benign g.154569580G>A g.154597104G>A ADAR(NM_001193495.2):c.1194+19C>T - ADAR_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.2080-5T>C r.spl? p.? - likely benign g.154569476A>G g.154597000A>G ADAR(NM_001193495.2):c.1195-5T>C - ADAR_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.2107G>C r.(?) p.(Asp703His) - likely benign g.154569444C>G - ADAR(NM_001193495.2):c.1222G>C (p.D408H) - ADAR_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2158G>T r.(?) p.(Val720Leu) - VUS g.154569393C>A g.154596917C>A ADAR(NM_001193495.2):c.1273G>T (p.V425L) - ADAR_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.2184_2185insA r.(?) p.(Gly729ArgfsTer15) - pathogenic g.154569366_154569367insT g.154596890_154596891insT ADAR(NM_001193495.2):c.1299_1300insA (p.G434Rfs*15) - ADAR_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2271-15T>C r.(=) p.(=) - likely benign g.154562900A>G - ADAR(NM_001111.5):c.2271-15T>C - ADAR_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2275G>A r.(?) p.(Val759Ile) - likely benign g.154562881C>T g.154590405C>T ADAR(NM_001025107.2):c.1390G>A (p.(Val464Ile)), ADAR(NM_001193495.2):c.1390G>A (p.V464I) - ADAR_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.2275G>A r.(?) p.(Val759Ile) - likely benign g.154562881C>T g.154590405C>T ADAR(NM_001025107.2):c.1390G>A (p.(Val464Ile)), ADAR(NM_001193495.2):c.1390G>A (p.V464I) - ADAR_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.2275G>A r.(?) p.(Val759Ile) - VUS g.154562881C>T g.154590405C>T ADAR(NM_001025107.2):c.1390G>A (p.(Val464Ile)), ADAR(NM_001193495.2):c.1390G>A (p.V464I) - ADAR_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2378T>C r.(?) p.(Ile793Thr) - VUS g.154562778A>G - ADAR(NM_001111.5):c.2378T>C (p.I793T) - ADAR_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.2496+9G>A r.(=) p.(=) - likely benign g.154562651C>T g.154590175C>T ADAR(NM_001111.5):c.2496+9G>A, ADAR(NM_001193495.2):c.1611+9G>A - ADAR_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.


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