Full data view for gene ATP2B2

Information The variants shown are described using the NM_001683.3 transcript reference sequence.

55 entries on 1 page. Showing entries 1 - 55.
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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.-320+10G>A r.(=) p.(=) Unknown - benign g.10547139C>T g.10505455C>T ATP2B2(NM_001330611.2):c.-320+10G>A - ATP2B2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.200-719C>T r.(=) p.(=) Unknown - VUS g.10453218G>A g.10411534G>A - - ATP2B2_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
+/. - c.299G>A r.(?) p.(Trp100Ter) Unknown - pathogenic g.10452400C>T g.10410716C>T ATP2B2(NM_001330611.2):c.299G>A (p.W100*) - ATP2B2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.333G>T r.(?) p.(Leu111=) Unknown - likely benign g.10452366C>A g.10410682C>A ATP2B2(NM_001330611.2):c.333G>T (p.L111=) - ATP2B2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.397+1G>A r.spl? p.? Unknown - likely pathogenic g.10452301C>T g.10410617C>T - - ATP2B2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.398-2A>G r.spl? p.? Unknown - pathogenic g.10444034T>C - - - ATP2B2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.586C>T r.(?) p.(Arg196Trp) Unknown - likely pathogenic g.10443844G>A - - - ATP2B2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.603C>G r.(?) p.(Val201=) Unknown - benign g.10443827G>C - - - ATP2B2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.724A>C r.(?) p.(Thr242Pro) Unknown - VUS g.10442694T>G g.10401010T>G - - ATP2B2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.857T>G r.(?) p.(Phe286Cys) Unknown - VUS g.10430011A>C - ATP2B2(NM_001330611.2):c.857T>G (p.F286C) - ATP2B2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ - c.877G>A r.(?) p.(Gly293Ser) Parent #1 - pathogenic g.10429991C>T g.10388307C>T - - ATP2B2_000029 - MORL Deafness Variation Database, PubMed: Ficarella 2007 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Ficarella 2007 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.907+1765G>T r.(=) p.(=) Unknown - VUS g.10428196C>A g.10386512C>A ATP2B2(NM_001001331.2):c.908G>T (p.(Gly303Val)) - ATP2B2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.907+1765G>T r.(=) p.(=) Unknown - likely benign g.10428196C>A - ATP2B2(NM_001001331.2):c.908G>T (p.(Gly303Val)) - ATP2B2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1089G>A r.(?) p.(Thr363=) Unknown - likely benign g.10417306C>T - ATP2B2(NM_001330611.2):c.1089G>A (p.T363=) - ATP2B2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1218G>A r.(?) p.(Leu406=) Unknown - likely benign g.10417177C>T - ATP2B2(NM_001330611.2):c.1218G>A (p.L406=) - ATP2B2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1233C>A r.(?) p.(Pro411=) Unknown - likely benign g.10417162G>T g.10375478G>T ATP2B2(NM_001330611.2):c.1233C>A (p.P411=) - ATP2B2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1234G>T r.(?) p.(Glu412*) Unknown - pathogenic g.10417161C>A - - - ATP2B2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1302C>T r.(?) p.(=) Unknown - VUS g.10413715G>A g.10372031G>A - - ATP2B2_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1373C>T r.(?) p.(Thr458Met) Unknown - VUS g.10413644G>A g.10371960G>A ATP2B2(NM_001330611.2):c.1373C>T (p.T458M) - ATP2B2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1373C>T r.(?) p.(Thr458Met) Unknown - VUS g.10413644G>A g.10371960G>A ATP2B2(NM_001330611.2):c.1373C>T (p.T458M) - ATP2B2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1411G>C r.(?) p.(Val471Leu) Unknown - likely benign g.10413606C>G - ATP2B2(NM_001330611.2):c.1411G>C (p.V471L) - ATP2B2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1417G>A r.(?) p.(Asp473Asn) Unknown - likely benign g.10413600C>T - ATP2B2(NM_001330611.2):c.1417G>A (p.D473N) - ATP2B2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1496_1498del r.(?) p.(Ile499del) Unknown - VUS g.10413521_10413523del - ATP2B2(NM_001683.5):c.1496_1498delTCA (p.I499del) - ATP2B2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1623C>T r.(?) p.(Pro541=) Unknown - likely benign g.10401709G>A g.10360025G>A ATP2B2(NM_001330611.2):c.1623C>T (p.P541=) - ATP2B2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1628G>A r.(?) p.(Arg543His) Unknown - VUS g.10401704C>T - - - ATP2B2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1630A>G r.(?) p.(Ser544Gly) Unknown - likely benign g.10401702T>C g.10360018T>C ATP2B2(NM_001330611.2):c.1630A>G (p.S544G) - ATP2B2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1714G>A r.(?) p.(Asp572Asn) Unknown - likely benign g.10401618C>T g.10359934C>T ATP2B2(NM_001001331.3):c.1849G>A (p.D617N) - ATP2B2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1767-34C>T r.(=) p.(=) Both (homozygous) - VUS g.10400643G>A g.10358959G>A - - ATP2B2_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
+?/. - c.1828G>T r.(?) p.(Glu610Ter) Unknown - likely pathogenic g.10400548C>A g.10358864C>A - - ATP2B2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1840A>T r.(?) p.(Lys614Ter) Unknown - pathogenic g.10400536T>A - - - ATP2B2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1863C>A r.(?) p.(Cys621Ter) Unknown - pathogenic g.10400513G>T g.10358829G>T - - ATP2B2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1914G>A r.(?) p.(Pro638=) Unknown - likely benign g.10400462C>T - ATP2B2(NM_001330611.2):c.1914G>A (p.P638=) - ATP2B2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2001+2_2001+13del r.spl? p.? Unknown - VUS g.10400364_10400375del g.10358680_10358691del ATP2B2(NM_001330611.2):c.2001+2_2001+13delTAGGCCCCAGGG - ATP2B2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2179dup r.(?) p.(Glu727GlyfsTer3) Unknown - likely pathogenic g.10392088dup g.10350404dup - - ATP2B2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2194C>T r.(?) p.(Arg732Ter) Unknown - likely pathogenic g.10391871G>A g.10350187G>A - - ATP2B2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2250C>G r.(?) p.(Asp750Glu) Unknown - VUS g.10391815G>C - ATP2B2(NM_001001331.4):c.2385C>G (p.(Asp795Glu)) - ATP2B2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2326G>A r.(?) p.(Gly776Arg) Unknown - likely pathogenic g.10387765C>T - - - ATP2B2_000033 - PubMed: Granadillo 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat2 PubMed: Granadillo 2020 2-generation family, 1 affected, unaffected non-carrier parents M - China - - - - - 1 Johan den Dunnen
-?/. - c.2394C>T r.(?) p.(Asp798=) Unknown - likely benign g.10387242G>A - ATP2B2(NM_001330611.2):c.2394C>T (p.D798=) - ATP2B2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2528_2530del r.(2528_2530del) p.(Val843del) Unknown ACMG VUS g.10387110_10387112del g.10345426_10345428del 2663_2665del (Val888del) - ATP2B2_000055 - - - - De novo - - - - - DNA SEQ-NG-I - WGS DFNB12 - Pending - F - France - - - - - 1 Camille Verebi
?/. - c.2537T>C r.(?) p.(Ile846Thr) Unknown - VUS g.10387099A>G g.10345415A>G ATP2B2(NM_001330611.2):c.2537T>C (p.I846T) - ATP2B2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2568+9G>T r.(=) p.(=) Both (homozygous) - VUS g.10387059C>A g.10345375C>A - - ATP2B2_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.2569-6C>A r.(=) p.(=) Unknown - VUS g.10384655G>T g.10342971G>T ATP2B2(NM_001330611.2):c.2569-6C>A - ATP2B2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2600G>A r.(?) p.(Trp867*) Unknown - likely pathogenic g.10384618C>T - - - ATP2B2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2685C>T r.(?) p.(Tyr895=) Unknown - likely benign g.10384533G>A g.10342849G>A ATP2B2(NM_001330611.2):c.2685C>T (p.Y895=) - ATP2B2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2783-250T>C r.(=) p.(=) Both (homozygous) - VUS g.10382638A>G g.10340954A>G - - ATP2B2_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.2783-149A>C r.(=) p.(=) Both (homozygous) - VUS g.10382537T>G g.10340853T>G - - ATP2B2_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.2994+29C>T r.(=) p.(=) Both (homozygous) - VUS g.10382148G>A g.10340464G>A - - ATP2B2_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.2994+66A>G r.(=) p.(=) Both (homozygous) - VUS g.10382111T>C g.10340427T>C - - ATP2B2_000008 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
+/. - c.3007C>T r.(?) p.(Gln1003*) Unknown - pathogenic g.10382021G>A - - - ATP2B2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3116T>C r.(?) p.(Ile1039Thr) Unknown - VUS g.10380029A>G g.10338345A>G I1084T - ATP2B2_000049 - PubMed: Cappi 2016 - - De novo - - - - - DNA SEQ, SEQ-NG - WES trio ? OCD018901 PubMed: Cappi 2016 analysis 20 sporadic obsessive-compulsive disorder cases - - Brazil - - - - - 1 Johan den Dunnen
-?/. - c.3180G>A r.(?) p.(Pro1060=) Unknown - likely benign g.10379965C>T g.10338281C>T ATP2B2(NM_001330611.2):c.3180G>A (p.P1060=) - ATP2B2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3259C>T r.(?) p.(Arg1087*) Unknown - VUS g.10379886G>A - ATP2B2(NM_001001331.4):c.3394C>T (p.(Arg1132*)) - ATP2B2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3285+1995G>A r.(=) p.(=) Unknown - likely benign g.10377865C>T - ATP2B2(NM_001330611.2):c.3405G>A (p.S1135=) - ATP2B2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3303G>A r.(?) p.(Ala1101=) Unknown - likely benign g.10370792C>T - ATP2B2(NM_001001331.3):c.3438G>A (p.A1146=) - ATP2B2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3465G>A r.(?) p.(Ser1155=) Unknown - likely benign g.10370630C>T g.10328946C>T ATP2B2(NM_001001331.3):c.3600G>A (p.S1200=) - ATP2B2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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