Unique variants in the ATP6AP2 gene

Information The variants shown are described using the NM_005765.2 transcript reference sequence.

33 entries on 1 page. Showing entries 1 - 33.
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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     
-?/. 1 - c.31G>C r.(?) p.(Val11Leu) - likely benign g.40440348G>C g.40581096G>C ATP6AP2(NM_005765.2):c.31G>C (p.(Val11Leu)) - ATP6AP2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 2 - c.38-274_38-271dup r.(=) p.(=) - VUS g.40447964_40447967dup g.40588712_40588715dup - - ATP6AP2_000014 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.38-5T>C r.spl? p.? - likely benign g.40448233T>C g.40588981T>C ATP6AP2(NM_005765.3):c.38-5T>C - ATP6AP2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.120G>A r.(?) p.(Glu40=) - likely benign g.40448320G>A - ATP6AP2(NM_005765.3):c.120G>A (p.E40=) - ATP6AP2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.132C>T r.(?) p.(Asp44=) - likely benign g.40448332C>T - ATP6AP2(NM_005765.2):c.132C>T (p.D44=) - ATP6AP2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.189C>T r.(?) p.(Leu63=) - likely benign g.40450506C>T g.40591254C>T ATP6AP2(NM_005765.2):c.189C>T (p.L63=), ATP6AP2(NM_005765.3):c.189C>T (p.L63=) - ATP6AP2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 1 - c.195G>A r.(?) p.(Val65=) - VUS g.40450512G>A - ATP6AP2(NM_005765.2):c.195G>A (p.V65=) - ATP6AP2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 3 - c.268C>G r.(?) p.(Pro90Ala) - benign, likely benign g.40450585C>G g.40591333C>G ATP6AP2(NM_005765.2):c.268C>G (p.P90A), ATP6AP2(NM_005765.3):c.268C>G (p.P90A) - ATP6AP2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_VUmc
-?/. 1 - c.301-9A>T r.(=) p.(=) - likely benign g.40456492A>T g.40597240A>T ATP6AP2(NM_005765.3):c.301-9A>T - ATP6AP2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 4 c.321C>T r.301_396del p.Ala101_Glu132del - pathogenic g.40456521C>T g.40597269C>T - - ATP6AP2_000007 variant not in 1200 control chromosomes PubMed: Ramser 2005 - - Germline yes - - - - Johan den Dunnen
+/. 1 4 c.345C>T r.301_396del p.Ala101_Glu132del - pathogenic g.40456545C>T g.40597293C>T - - ATP6AP2_000015 - PubMed: Korvatska 2013 - - Germline yes - - - - Johan den Dunnen
-?/. 1 - c.357G>A r.(?) p.(Glu119=) - likely benign g.40456557G>A g.40597305G>A ATP6AP2(NM_005765.2):c.357G>A (p.E119=) - ATP6AP2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.472C>T r.(=) p.(=) - likely benign g.40456854C>T g.40597602C>T L158L - ATP6AP2_000026 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 2 - c.534+45G>C r.(=) p.(=) - VUS g.40456961G>C g.40597709G>C - - ATP6AP2_000009 - - - - Germline - - - - - Yu Sun
?/. 2 - c.534+169T>C r.(=) p.(=) - VUS g.40457085T>C g.40597833T>C - - ATP6AP2_000003 - - - - Germline - - - - - Yu Sun
-/. 1 - c.535-153C>T r.(=) p.(=) - benign g.40457780C>T g.40598528C>T ATP6AP2(NM_005765.3):c.535-153C>T - ATP6AP2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.589-15G>T r.(=) p.(=) - likely benign g.40458829G>T g.40599577G>T ATP6AP2(NM_005765.3):c.589-15G>T - ATP6AP2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 2 - c.595C>T r.(?) p.(Arg199Cys) - VUS g.40458850C>T g.40599598C>T ATP6AP2(NM_005765.2):c.595C>T (p.R199C, p.(Arg199Cys)) - ATP6AP2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.618T>A r.(?) p.(Asp206Glu) - VUS g.40458873T>A g.40599621T>A ATP6AP2(NM_005765.2):c.618T>A (p.D206E) - ATP6AP2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.765T>C r.(=), r.(?) p.(=), p.(Tyr255=) - benign, likely benign g.40460040T>C g.40600788T>C ATP6AP2(NM_005765.2):c.765T>C (p.Y255=), Y255Y - ATP6AP2_000027 found once, nonrecurrent change, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 1/208 cases - - - Lucy Raymond, VKGL-NL_VUmc
-?/. 2 - c.822T>C r.(?) p.(Ile274=) - likely benign g.40460097T>C g.40600845T>C ATP6AP2(NM_005765.2):c.822T>C (p.I274=), ATP6AP2(NM_005765.3):c.822T>C (p.I274=) - ATP6AP2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.857C>T r.(?) p.(Ala286Val) - likely benign g.40460132C>T - ATP6AP2(NM_005765.2):c.857C>T (p.A286V) - ATP6AP2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.858+49_858+50insAAA r.(=) p.(=) - VUS g.40460182_40460183insAAA g.40600930_40600931insAAA - - ATP6AP2_000004 - - - - Germline - - - - - Yu Sun
-/. 1 - c.858+52A>T r.(=) p.(=) - benign g.40460185A>T g.40600933A>T ATP6AP2(NM_005765.3):c.858+52A>T - ATP6AP2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 2 - c.858+61_858+63dup r.(=) p.(=) - VUS g.40460194_40460196dup g.40600942_40600944dup - - ATP6AP2_000006 - - - - Germline - - - - - Yu Sun
?/. 4 - c.858+62_858+63dup r.(=) p.(=) - VUS g.40460195_40460196dup g.40600943_40600944dup - - ATP6AP2_000005, ATP6AP2_000012 - - - - Germline - - - - - Yu Sun
?/. 2 - c.858+63dup r.(=) p.(=) - VUS g.40460196dup g.40600944dup - - ATP6AP2_000013 - - - - Germline - - - - - Yu Sun
-/., -?/. 2 - c.868G>C r.(?) p.(Ala290Pro) - benign, likely benign g.40464822G>C g.40605570G>C ATP6AP2(NM_005765.2):c.868G>C (p.(Ala290Pro)), ATP6AP2(NM_005765.3):c.868G>C (p.A290P) - ATP6AP2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Utrecht
?/. 1 - c.946G>A r.(?) p.(Ala316Thr) - VUS g.40464900G>A - ATP6AP2(NM_005765.3):c.946G>A (p.A316T) - ATP6AP2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.955T>G r.(?) p.(Leu319Val) - likely benign g.40464909T>G g.40605657T>G ATP6AP2(NM_005765.3):c.955T>G (p.L319V) - ATP6AP2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.980A>G r.(?) p.(Asn327Ser) - likely benign g.40464934A>G g.40605682A>G ATP6AP2(NM_005765.3):c.980A>G (p.N327S) - ATP6AP2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.987G>C r.(?) p.(Trp329Cys) - VUS g.40464941G>C g.40605689G>C ATP6AP2(NM_005765.2):c.987G>C (p.W329C) - ATP6AP2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.1050T>C r.(?) p.(Asp350=) - likely benign g.40465004T>C g.40605752T>C ATP6AP2(NM_005765.2):c.1050T>C (p.D350=) - ATP6AP2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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