Full data view for gene ARID2

Information The variants shown are described using the NM_152641.2 transcript reference sequence.

130 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     
+/. _3i_21_ c.(?_285-15560)_*2958{0} r.? p.? Unknown - pathogenic (dominant) g.(?_46189641)_(47575801_?)del - - - ARID2_000048 1.39 Mb deletion at 12q12-13.11 PubMed: Gazdagh 2019 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - NDD Pat7 PubMed: Gazdagh 2019 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. _1_21_ c.-131_*2958{0} r.0? p.0? Unknown - likely pathogenic (dominant) g.(?_46123489)_(46301819_?)del g.(?_45729706)_(45908036_?)del 36kb deletion 12q12 - ARID2_000075 - PubMed: Schrier Vergano 2024 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - CSS Pat4 PubMed: Schrier Vergano 2024 2-generation family, 1 affected M - - - - - - - 1 Johan den Dunnen
+/. _1_21_ c.-131_*2958{0} r.0? p.0? Unknown - pathogenic (dominant) g.(?_46123489)_(46301819_?)del g.(?_45729706)_(45908036_?)del 179kb deletion 12q12 - ARID2_000075 - PubMed: Schrier Vergano 2024 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - CSS Pat5 PubMed: Schrier Vergano 2024 2-generation family, 1 affected F - - - - - - - 1 Johan den Dunnen
+/. _1_21_ c.-131_*2958{0} r.0? p.0? Unknown - pathogenic (dominant) g.(?_46123489)_(46301819_?)del g.(?_45729706)_(45908036_?)del 2.9Mb del 12q12-12q13.11 - ARID2_000075 - PubMed: Schrier Vergano 2024 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - CSS Pat9 PubMed: Schrier Vergano 2024 2-generation family, 1 affected M - - - - - - - 1 Johan den Dunnen
+/. _1_21_ c.-131_*2958{0} r.0? p.0? Unknown - pathogenic (dominant) g.(?_46123489)_(46301819_?)del g.(?_45729706)_(45908036_?)del 630kbdel 12q12-12q13.11 - ARID2_000075 - PubMed: Schrier Vergano 2024 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - CSS Pat12 PubMed: Schrier Vergano 2024 2-generation family, 1 affected M - - - - - - - 1 Johan den Dunnen
+/. _1_21_ c.-131_*2958{0} r.0? p.0? Unknown - pathogenic (dominant) g.(?_46123489)_(46301819_?)del g.(?_45729706)_(45908036_?)del 94kb del 12q12 - ARID2_000075 - PubMed: Schrier Vergano 2024 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - CSS Pat13 PubMed: Schrier Vergano 2024 2-generation family, 1 affected F - - - - - - - 1 Johan den Dunnen
+?/. _1_21_ c.-131_*2958{0} r.0? p.0? Unknown - likely pathogenic (dominant) g.(?_46123489)_(46301819_?)del g.(?_45729706)_(45908036_?)del deletion 12q12 - ARID2_000075 - PubMed: Schrier Vergano 2024 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - CSS Pat15 PubMed: Schrier Vergano 2024 2-generation family, 1 affected M - - - - - - - 1 Johan den Dunnen
+/. _1_16i_ c.-1_(4922+5298_?){0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_46013532)_(46260030_?)del - - - ARID2_000047 246,499bp deletion at 12q12 PubMed: Gazdagh 2019 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - NDD Pat1 PubMed: Gazdagh 2019 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. _1_21_ c.-1_*2958{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_43005992)_(46669000_?)del - - - ARID2_000046 3.7Mb deletion 12q12-13.11 PubMed: Kang 2021 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - NDD patient PubMed: Kang 2021 no family history F - Korea - - - - - 1 Johan den Dunnen
+/. _1_21_ c.-1_*2958{0} r.0 p.0 Unknown - pathogenic (dominant) g.(42000000_43000000)_(47000000_48000000)del - - - ARID2_000046 4.5 Mb 12q12 deletion PubMed: Failla 2008 - - De novo - - - - - DNA arrayCGH - - NDD patient PubMed: Failla 2008 no family history M - Italy - - - - - 1 Johan den Dunnen
+/. _1_21_ c.-1_*2958{0} r.0 p.0 Unknown - pathogenic (dominant) g.(38200001_46400000)_(49100001_51500000)del - 46,XY,del(12)(q12q13.12 - ARID2_000046 - PubMed: Tonoki 1998 - - De novo - - - - - DNA microscope - - NDD patient PubMed: Tonoki 1998 no family history M - Japan - - - - - 1 Johan den Dunnen
+/. _1_21_ c.-1_*2958{0} r.0 p.0 Unknown - pathogenic (dominant) g.(35800001_38200000)_(46400001_54900000)del - del 12q11-q13 - ARID2_000046 - Gallego 2000 (Int Pediatr 15: 37) - - Germline/De novo (untested) - - - - - DNA microscope, arrayCGH - - NDD patient Gallego 2000 (Int Pediatr 15: 37) no family history M - - - - - - - 1 Johan den Dunnen
+/. _1_21_ c.-1_*2958{0} r.0 p.0 Unknown - pathogenic (dominant) g.(43000000_43418911)_(46601627_47000000)del - 46,XX,t(12;14)(q12;q24) - ARID2_000046 3.18‐Mb deletion 12q12 PubMed: Weng 2018 - - De novo - - - - - DNA microscope, arrayCGH - - NDD patient PubMed: Weng 2018 - F - China - - - - - 1 Johan den Dunnen
+/. 2i_5i c.(186+1_253)_(706-7-1)_706del r.? p.? Unknown - pathogenic (dominant) g.(46123921_46125066)_(46230365_46230371)del - del ex3-5 hg19 12q12(46125066–46230365)x1 ARID2_000042 105kb deletion PubMed: Van Paemel 2017 - - De novo - - - - - DNA arraySNP - - ID patient PubMed: Van Paemel 2017 2-generation family, 1 affected, unaffected non-carrier parents F - Belgium - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic (dominant) g.(14839182_14944107)_(32111585_32162327)del;(46081883_46238593)ins[(14839182_14944107)_(32111585_32162327)inv] - 46,XX,ins(12)(q12p11.1p13.1)mat - ARID2_000045 maternal karyotype 46,XX,ins(12)(q12p11.1p13.1)[25]/46,XX[25] PubMed: Yatsenko 2009 - - Germline - - - - - DNA microscope, arrayCGH - - NDD FamPat2 PubMed: Yatsenko 2009 sister F - United States - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic (dominant) g.(14839182_14944107)_(32111585_32162327)del;(46081883_46238593)ins[(14839182_14944107)_(32111585_32162327)inv] - 46,XX,ins(12)(q12p11.1p13.1)mat - ARID2_000045 maternal karyotype 46,XX,ins(12)(q12p11.1p13.1)[25]/46,XX[25]; FISH breakpoint hg18 BP1 (14,730,449-14,835,374), BP3 (32,002,852–32,053,594), BP2 (44,368,150-44,524,860) PubMed: Yatsenko 2009 - - Germline - - - - - DNA microscope, arrayCGH - - NDD FamPat1 PubMed: Yatsenko 2009 2-generation family, 2 affected sibs F - United States - - - - - 2 Johan den Dunnen
+?/. - c.? r.(?) p.? Unknown - likely pathogenic (dominant) g.46285802C>G g.45892019C>G 5070C>G (Ser1602*) - ARID2_000045 - PubMed: Schrier Vergano 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - gene panel CSS Pat16 PubMed: Schrier Vergano 2024 2-generation family, 1 affected F - - - - - - - 1 Johan den Dunnen
-?/. - c.49C>T r.(?) p.(Leu17Phe) Unknown - likely benign g.46123668C>T - ARID2(NM_152641.2):c.49C>T (p.(Leu17Phe)) - ARID2_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.109del r.(?) p.(Ile37SerfsTer21) Unknown - pathogenic g.46123843del g.45730060del ARID2(NM_152641.4):c.109delA (p.I37Sfs*21) - ARID2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.109_110del r.(?) p.(Ile37ProfsTer28) Unknown - likely pathogenic g.46123843_46123844del g.45730060_45730061del ARID2(NM_152641.4):c.109_110delAT (p.I37Pfs*28) - ARID2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.132G>C r.(?) p.(Glu44Asp) Unknown - likely benign g.46123866G>C - ARID2(NM_152641.2):c.132G>C (p.(Glu44Asp)) - ARID2_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.156del r.(?) p.(Arg53Glufs*5) Parent #1 - likely pathogenic g.46123890del g.45730107del 156delC - ARID2_000010 - PubMed: Bramswig 2017 - - De novo - - - - - DNA SEQ - - CSS Ind2 PubMed: Bramswig 2017 - - - - - - - - - 1 Julia Lopez
+/. 2 c.156_157del r.(?) p.(Arg53SerfsTer12) Unknown ACMG pathogenic (dominant) g.46123890_46123891del g.45730107_45730108del - - ARID2_000064 ACMG PVS1, PS2, PM2, PP4 PubMed: Chen 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat76 PubMed: Chen 2022 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.180C>T r.(?) p.(Phe60=) Unknown - likely benign g.46123914C>T - ARID2(NM_152641.3):c.180C>T (p.F60=) - ARID2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.237del r.(?) p.(Arg80GlufsTer10) Unknown - pathogenic (dominant) g.46125050del g.45731267del 237delC - ARID2_000076 - PubMed: Schrier Vergano 2024 - - De novo - - - - - DNA SEQ-NG - WES CSS Pat2 PubMed: Schrier Vergano 2024 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.282dup r.(?) p.(Arg95Alafs*16) Unknown - likely pathogenic g.46125095dup - - - ARID2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.284+35604A>C r.(=) p.(=) Unknown - likely benign g.46160701A>C - ARID2(NM_152641.4):c.284+35604A>C - ARID2_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.285-393C>T r.(=) p.(=) Unknown - likely benign g.46204808C>T - ARID2(NM_152641.4):c.285-393C>T - ARID2_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.370A>G r.(?) p.(Ile124Val) Unknown - likely benign g.46205286A>G - ARID2(NM_152641.2):c.370A>G (p.(Ile124Val)) - ARID2_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.399C>G r.(?) p.(Tyr133Ter) Unknown - pathogenic (dominant) g.46205315C>G g.45811532C>G - - ARID2_000049 - PubMed: Gazdagh 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat3 PubMed: Gazdagh 2019 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.415del r.(?) p.(Ser139ArgfsTer76) Unknown - pathogenic (dominant) g.46205331del g.45811548del 415delT - ARID2_000077 - PubMed: Schrier Vergano 2024 - - De novo - - - - - DNA SEQ-NG - WES CSS Pat6 PubMed: Schrier Vergano 2024 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
-?/. - c.461C>T r.(?) p.(Ser154Leu) Unknown - likely benign g.46211495C>T - ARID2(NM_152641.2):c.461C>T (p.(Ser154Leu)) - ARID2_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.479_480insC r.(?) p.(Lys160Asnfs*13) Unknown - pathogenic g.46211513_46211514insC - ARID2(NM_152641.4):c.479_480insC (p.K160Nfs*13) - ARID2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.481_483del r.(?) p.(Leu161del) Unknown - pathogenic g.46211515_46211517del - ARID2(NM_152641.4):c.481_483delTTG (p.L161del) - ARID2_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.566A>G r.(?) p.(His189Arg) Unknown - VUS g.46211600A>G - ARID2(NM_152641.4):c.566A>G (p.H189R) - ARID2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.637+3A>G r.spl? p.? Unknown - likely benign g.46211674A>G - ARID2(NM_152641.4):c.637+3A>G - ARID2_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.694G>A r.(?) p.(Asp232Asn) Unknown - likely benign g.46215259G>A - ARID2(NM_152641.2):c.694G>A (p.(Asp232Asn)) - ARID2_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.705+6T>A r.(=) p.(=) Unknown - likely benign g.46215276T>A - ARID2(NM_152641.4):c.705+6T>A - ARID2_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.705+155G>A r.(=) p.(=) Unknown - likely benign g.46215425G>A - ARID2(NM_152641.4):c.705+155G>A - ARID2_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.820C>T r.(?) p.(Arg274Ter) Unknown - likely pathogenic g.46230571C>T g.45836788C>T - - ARID2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 8 c.820C>T r.(?) p.(Arg274Ter) Unknown ACMG likely pathogenic (dominant) g.46230571C>T g.45836788C>T - - ARID2_000006 0.13 mosaic; ACMG PVS1, PM2, PP4 PubMed: Chen 2022 - - Somatic - - - - - DNA SEQ, SEQ-NG - WES NDD Pat77 PubMed: Chen 2022 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.838G>A r.(?) p.(Asp280Asn) Unknown - likely benign g.46230589G>A - ARID2(NM_152641.2):c.838G>A (p.(Asp280Asn)) - ARID2_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.988_1008del r.(?) p.(Leu330_Gly336del) Unknown - VUS g.46230739_46230759del - ARID2(NM_152641.4):c.988_1008delTTAGGCCTTGACACATTAGGA (p.L330_G336del) - ARID2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 6 c.1028T>A r.(?) p.(Leu343*) Parent #1 - likely pathogenic g.46231108T>A g.45837325T>A - - ARID2_000011 Refseq reported:hg19 PubMed: Shang L 2015 - - Unknown - - - - - DNA SEQ - - ID 2 PubMed: Shang L 2015 - F - - - - - - - 1 Julia Lopez
?/. - c.1114A>T r.(?) p.(Met372Leu) Unknown - VUS g.46231194A>T - ARID2(NM_152641.2):c.1114A>T (p.(Met372Leu)) - ARID2_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1150G>A r.(?) p.(Ala384Thr) Unknown - VUS g.46231310G>A g.45837527G>A ARID2(NM_152641.2):c.1150G>A (p.(Ala384Thr)), ARID2(NM_152641.3):c.1150G>A (p.A384T), ARID2(NM_152641.4):c.1150G>A (p.A384T) - ARID2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1150G>A r.(?) p.(Ala384Thr) Unknown - likely benign g.46231310G>A - ARID2(NM_152641.2):c.1150G>A (p.(Ala384Thr)), ARID2(NM_152641.3):c.1150G>A (p.A384T), ARID2(NM_152641.4):c.1150G>A (p.A384T) - ARID2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1150G>A r.(?) p.(Ala384Thr) Unknown - VUS g.46231310G>A - ARID2(NM_152641.2):c.1150G>A (p.(Ala384Thr)), ARID2(NM_152641.3):c.1150G>A (p.A384T), ARID2(NM_152641.4):c.1150G>A (p.A384T) - ARID2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1158dup r.(?) p.(Asn387Ter) Unknown - pathogenic (dominant) g.46231318dup g.45837535dup - - ARID2_000050 - PubMed: Gazdagh 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat2 PubMed: Gazdagh 2019 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.1199del r.(?) p.(Tyr400SerfsTer16) Unknown - pathogenic (dominant) g.46231359del g.45837576del 1199delA - ARID2_000078 - PubMed: Schrier Vergano 2024 - - De novo - - - - - DNA SEQ-NG - WES CSS Pat7 PubMed: Schrier Vergano 2024 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.1262_1265dup r.(?) p.(Tyr423AlafsTer39) Unknown - pathogenic (dominant) g.46231422_46231425dup g.45837639_45837642dup 1262_1265dupTGCT - ARID2_000051 - PubMed: Khazanchi 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD patient PubMed: Khazanchi 2019 - M - United States - - - - - 1 Johan den Dunnen
+/. 10 c.1262_1265dup r.(?) p.(Tyr423AlafsTer39) Unknown ACMG pathogenic (dominant) g.46231422_46231425dup g.45837639_45837642dup - - ARID2_000051 ACMG PVS1, PS1, PS2, PM2, PP4 PubMed: Chen 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES NDD Pat78 PubMed: Chen 2022 - - - - - - - - - 1 Johan den Dunnen
+?/. 10 c.1284_1288del r.(?) p.(Met428IlefsTer31) Unknown ACMG likely pathogenic (dominant) g.46231444_46231448del g.45837661_45837665del - - ARID2_000065 variant not maternal; ACMG PVS1, PM2, PP4 PubMed: Chen 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES NDD Pat79 PubMed: Chen 2022 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.1330+251A>G r.(=) p.(=) Unknown - likely benign g.46231741A>G - ARID2(NM_152641.4):c.1330+251A>G - ARID2_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1332del r.(?) p.(Asp444GlufsTer3) Unknown - pathogenic (dominant) g.46233113del g.45839330del 1332delC - ARID2_000079 - PubMed: Schrier Vergano 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WES CSS Pat10 PubMed: Schrier Vergano 2024 2-generation family, 1 affected F - - - - - - - 1 Johan den Dunnen
-?/. - c.1335G>A r.(?) p.(Met445Ile) Unknown - likely benign g.46233116G>A - ARID2(NM_152641.2):c.1335G>A (p.(Met445Ile)) - ARID2_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1472C>G r.(?) p.(Thr491Ser) Unknown - likely benign g.46233253C>G - ARID2(NM_152641.4):c.1472C>G (p.T491S) - ARID2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1498+241T>C r.(=) p.(=) Unknown - likely benign g.46233520T>C - ARID2(NM_152641.4):c.1498+241T>C - ARID2_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1499C>G r.(?) p.(Ala500Gly) Unknown - likely benign g.46240639C>G - ARID2(NM_152641.4):c.1499C>G (p.A500G) - ARID2_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12i c.1580+1G>A r.spl p.? Unknown ACMG pathogenic (dominant) g.46240721G>A g.45846938G>A - - ARID2_000066 ACMG PVS1, PS2, PM2, PP4 PubMed: Chen 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat80 PubMed: Chen 2022 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.1692A>C r.(?) p.(Ser564=) Unknown - likely benign g.46242730A>C - ARID2(NM_152641.3):c.1692A>C (p.S564=) - ARID2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1693A>G r.(?) p.(Thr565Ala) Unknown - VUS g.46242731A>G - ARID2(NM_152641.4):c.1693A>G (p.T565A) - ARID2_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1746_1747del r.(?) p.(Arg582SerfsTer6) Unknown - likely pathogenic (dominant) g.46243393_46243394del g.45849610_45849611del 1746_1747delAG - ARID2_000085 - PubMed: Poli 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? Pat2 PubMed: Poli 2024 - M - Chile - - - - - 1 Johan den Dunnen
+?/. - c.1997_2000dup r.(?) p.(Met667IlefsTer41) Unknown - likely pathogenic g.46243903_46243906dup g.45850120_45850123dup ARID2(NM_152641.4):c.1997_2000dupAAAT (p.M667Ifs*41) - ARID2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2048G>A r.(?) p.(Arg683Lys) Unknown - VUS g.46243954G>A g.45850171G>A ARID2(NM_152641.2):c.2048G>A (p.(Arg683Lys)) - ARID2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2267T>C r.(?) p.(Val756Ala) Unknown - VUS g.46244173T>C g.45850390T>C ARID2(NM_152641.3):c.2267T>C (p.V756A) - ARID2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2347A>T r.(?) p.(Ile783Phe) Unknown - VUS g.46244253A>T - ARID2(NM_152641.4):c.2347A>T (p.I783F) - ARID2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2378A>G r.(?) p.(Gln793Arg) Unknown - VUS g.46244284A>G - ARID2(NM_152641.4):c.2378A>G (p.Q793R) - ARID2_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2450A>C r.(?) p.(Gln817Pro) Unknown - VUS g.46244356A>C - ARID2(NM_152641.2):c.2450A>C (p.(Gln817Pro)) - ARID2_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2455C>T r.(?) p.(Gln819Ter) Unknown - pathogenic g.46244361C>T g.45850578C>T ARID2(NM_152641.4):c.2455C>T (p.Q819*) - ARID2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 15 c.2458C>T r.(?) p.(Gln820Ter) Unknown ACMG pathogenic (dominant) g.46244364C>T g.45850581C>T - - ARID2_000067 0.19 mosaic; ACMG PVS1, PS2, PM2, PP4 PubMed: Chen 2022 - - Somatic - - - - - DNA SEQ, SEQ-NG - WES NDD Pat81 PubMed: Chen 2022 - - - - - - - - - 1 Johan den Dunnen
+?/. 10 c.2536del r.(?) p.(Val846LeufsTer3) Parent #1 - likely pathogenic g.46244442del g.45850659del p.(Val846Leufs*3) - ARID2_000012 Refseq reported:hg19 PubMed: Shang L 2015 - - De novo - - - - - DNA SEQ - - ID 1 PubMed: Shang L 2015 - F - - - - - - - 1 Julia Lopez
+/. - c.2645_2646insCT r.(?) p.(Val883LeufsTer10) Unknown - pathogenic (dominant) g.46244551_46244552insCT g.45850768_45850769insCT - - ARID2_000052 - PubMed: Gazdagh 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat6 PubMed: Gazdagh 2019 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. - c.2666C>A r.(?) p.(Ser889Ter) Unknown - likely pathogenic g.46244572C>A - - - ARID2_000113 - - - rs1943534179 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2764A>G r.(?) p.(Thr922Ala) Unknown - benign g.46244670A>G g.45850887A>G ARID2(NM_152641.3):c.2764A>G (p.T922A) - ARID2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2812A>G r.(?) p.(Thr938Ala) Unknown - likely benign g.46244718A>G - ARID2(NM_152641.2):c.2812A>G (p.(Thr938Ala)) - ARID2_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2814_2815del r.(?) p.(Tyr939CysfsTer11) Unknown - pathogenic (dominant) g.46244720_46244721del g.45850937_45850938del 2814_2851delTT - ARID2_000080 - PubMed: Schrier Vergano 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WES CSS Pat11 PubMed: Schrier Vergano 2024 2-generation family, 1 affected F - - - - - - - 1 Johan den Dunnen
+?/. 15 c.2828T>G r.(?) p.(Ile943Ser) Unknown ACMG likely pathogenic (dominant) g.46244734T>G g.45850951T>G - - ARID2_000068 ACMG PS2, PM2, PP4 PubMed: Chen 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat82 PubMed: Chen 2022 - - - - - - - - - 1 Johan den Dunnen
+/. - c.2872C>T r.(?) p.(Gln958Ter) Unknown - pathogenic (dominant) g.46244778C>T g.45850995C>T - - ARID2_000081 - PubMed: Schrier Vergano 2024 - - De novo - - - - - DNA SEQ-NG - - CSS Pat1 PubMed: Schrier Vergano 2024 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
?/. - c.2966C>G r.(?) p.(Ser989Trp) Unknown - VUS g.46244872C>G - ARID2(NM_152641.4):c.2966C>G (p.S989W) - ARID2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3022T>C r.(?) p.(Ser1008Pro) Unknown - likely benign g.46244928T>C - ARID2(NM_152641.2):c.3022T>C (p.(Ser1008Pro)) - ARID2_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3094C>T r.(?) p.(Gln1032Ter) Unknown - pathogenic g.46245000C>T - - - ARID2_000072 - - - rs2138169007 Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3205_3207del r.(?) p.(Gly1069del) Unknown - VUS g.46245111_46245113del - ARID2(NM_152641.2):c.3205_3207delGGT (p.(Gly1069del)) - ARID2_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3216del r.(?) p.(Pro1073GlnfsTer83) Unknown - likely pathogenic g.46245122del g.45851339del - - ARID2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3285_3286insAT r.(?) p.(Gln1096IlefsTer61) Unknown - pathogenic g.46245191_46245192insAT - ARID2(NM_152641.4):c.3285_3286insAT (p.Q1096Ifs*61) - ARID2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3331G>T r.(?) p.(Val1111Leu) Unknown - likely benign g.46245237G>T - ARID2(NM_152641.2):c.3331G>T (p.(Val1111Leu)) - ARID2_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3334C>T r.(?) p.(Gln1112*) Unknown ACMG likely pathogenic (dominant) g.46245240C>T - - - ARID2_000043 ACMG: PVS1, PM2_SUP - - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - CSS6 180573 - - F - - - - - - - 1 Andreas Laner
+?/. 12 c.3411_3412del r.(?) p.(Gly1139Serfs*20) Parent #1 - likely pathogenic g.46245317_46245318del g.45851534_45851535del - - ARID2_000013 - PubMed: Bramswig 2017 - - De novo - - - - - DNA SEQ - - CSS Ind1 PubMed: Bramswig 2017 - - - - - - - - - 1 Julia Lopez
-?/. - c.3438G>A r.(?) p.(Ser1146=) Unknown - likely benign g.46245344G>A - ARID2(NM_152641.3):c.3438G>A (p.S1146=) - ARID2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3551del r.(?) p.(Pro1184LeufsTer4) Unknown - pathogenic g.46245457del - ARID2(NM_152641.4):c.3551delC (p.P1184Lfs*4) - ARID2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3551del r.(?) p.(Pro1184LeufsTer4) Unknown - pathogenic g.46245457del - ARID2(NM_152641.4):c.3551delC (p.P1184Lfs*4) - ARID2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 15 c.3556A>G r.(?) p.(Thr1186Ala) Unknown - VUS g.46245462A>G g.45851679A>G - - ARID2_000055 - PubMed: Gu 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES HR - PubMed: Gu 2018 - - - China - - - - - 1 Johan den Dunnen
-?/. - c.3577A>G r.(?) p.(Thr1193Ala) Unknown - likely benign g.46245483A>G - ARID2(NM_152641.2):c.3577A>G (p.(Thr1193Ala)) - ARID2_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3679C>T r.(?) p.(Gln1227Ter) Unknown - pathogenic (dominant) g.46245585C>T g.45851802C>T 3680C>T - ARID2_000082 - PubMed: Schrier Vergano 2024 - - De novo - - - - - DNA SEQ-NG - WES CSS Pat14 PubMed: Schrier Vergano 2024 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.3814C>T r.(?) p.(Arg1272Ter) Unknown - likely pathogenic g.46245720C>T g.45851937C>T - - ARID2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3981A>G r.(?) p.(Ser1327=) Unknown - likely benign g.46245887A>G - ARID2(NM_152641.3):c.3981A>G (p.S1327=) - ARID2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4146C>T r.(?) p.(Ser1382=) Unknown - likely benign g.46246052C>T g.45852269C>T ARID2(NM_152641.3):c.4146C>T (p.S1382=) - ARID2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4223A>G r.(?) p.(Lys1408Arg) Unknown - likely benign g.46246129A>G g.45852346A>G ARID2(NM_152641.2):c.4223A>G (p.(Lys1408Arg)), ARID2(NM_152641.3):c.4223A>G (p.K1408R) - ARID2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4223A>G r.(?) p.(Lys1408Arg) Unknown - likely benign g.46246129A>G - ARID2(NM_152641.2):c.4223A>G (p.(Lys1408Arg)), ARID2(NM_152641.3):c.4223A>G (p.K1408R) - ARID2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4240A>G r.(?) p.(Arg1414Gly) Unknown - VUS g.46246146A>G g.45852363A>G ARID2(NM_152641.4):c.4240A>G (p.R1414G) - ARID2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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