All variants in the KAL1 gene

NOTE: gene name changed from KAL1 to ANOS1
Information The variants shown are described using the NM_000216.2 transcript reference sequence.

81 entries on 1 page. Showing entries 1 - 81.
Legend   How to query  

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.(?_‐30)_(255+1_256-1)del r.? p.0? - pathogenic g.? - - - USP9X_000005 - PubMed: Heidet 2017 - - Germline - - - - - Johan den Dunnen
?/. - c.-1777289_*2752254del r.0? p.0? ACMG VUS g.5748782_10477366del g.5830745_10559329del chrX, g.5748782_10477366del, arr[GRCh37] Xp22.32p22.2(5748782-10477366)x1, heterozygous | heterozygous - NLGN4X_000080 no gene indicated in publication! PubMed: Perea-Romero 2021 - - Germline yes - - - - LOVD
-?/. 1 c.-91T>G r.(=) p.(=) - likely benign g.8700168A>C g.8732127A>C - - KAL1_000009 - - - - Germline - - - - - Yu Sun
-?/. - c.79C>G r.(?) p.(Pro27Ala) - likely benign g.8699999G>C g.8731958G>C ANOS1(NM_000216.3):c.79C>G (p.P27A) - KAL1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 c.146G>T r.(?) p.(Cys49Phe) - pathogenic g.8699932C>A g.8731891C>A - - KAL1_000005 - - - - Germline - - - - - Fei Wang
+?/. - c.161T>C r.(?) p.(Leu54Pro) - likely pathogenic g.8699917A>G - - - KAL1_000055 - - - - CLASSIFICATION record - - - - - MobiDetails
-/. - c.255+4C>T r.spl? p.? - benign g.8667735G>A g.8699694G>A ANOS1(NM_000216.4):c.255+4C>T - KAL1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.264G>A r.(?) p.(Glu88=) - likely benign g.8591703C>T g.8623662C>T ANOS1(NM_000216.3):c.264G>A (p.E88=) - KAL1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.390G>A r.(?) p.(Lys130=) - benign g.8565226C>T - ANOS1(NM_000216.4):c.390G>A (p.K130=) - KAL1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.446A>G r.(?) p.(Glu149Gly) - VUS g.8565170T>C - - - KAL1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 5 c.555G>C r.(?) p.(Lys185Asn) - likely pathogenic g.8556006C>G g.8587965C>G - - KAL1_000006 - - - - Germline - - - - - Mark McCabe
?/. - c.555G>C r.(?) p.(Lys185Asn) - VUS g.8556006C>G g.8587965C>G - - KAL1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.567G>T r.(?) p.(Glu189Asp) - VUS g.8555994C>A g.8587953C>A ANOS1(NM_000216.3):c.567G>T (p.E189D) - KAL1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.572G>A r.(?) p.(Arg191Gln) - likely benign g.8555989C>T - ANOS1(NM_000216.3):c.572G>A (p.R191Q) - KAL1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.617C>T r.(?) p.(Ser206Leu) - VUS g.8555944G>A - - - KAL1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 5 c.649T>G r.(?) p.(Tyr217Asp) - pathogenic g.8555912A>C g.8587871A>C Y217D - KAL1_000012 - PubMed: Hanchate 2012, Journal: Hanchate 2012 - - Germline - - - - - Johan den Dunnen
+/. - c.736G>T r.(?) p.(Glu246Ter) - pathogenic g.8553428C>A g.8585387C>A - - KAL1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.739C>T r.(?) p.(Arg247Ter) - pathogenic g.8553425G>A g.8585384G>A ANOS1(NM_000216.4):c.739C>T (p.R247*) - KAL1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.769C>T r.(?) p.(Arg257*) - pathogenic g.8553395G>A g.8585354G>A - - KAL1_000051 - PubMed: Heidet 2017 - - Germline - - - - - Johan den Dunnen
+/. - c.784C>T r.(?) p.(Arg262Ter) - pathogenic g.8553380G>A g.8585339G>A - - KAL1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 6 c.827_856+49delinsGTA r.spl p.? - pathogenic g.8553259_8553337delinsTAC g.8585218_8585296delinsTAC - - KAL1_000011 1st observation - - - Germline - - - - - Cecile Libioulle
-/. - c.857-15G>A r.(=) p.(=) - benign g.8538760C>T g.8570719C>T ANOS1(NM_000216.4):c.857-15G>A - KAL1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/? 7 c.871C>A r.(?) p.(Pro291Thr) - likely pathogenic g.8538731G>T g.8570690G>T - - KAL1_000007 - - - - Germline - - - - - Mark McCabe
+/. - c.944G>A r.(?) p.(Trp315Ter) - pathogenic g.8538658C>T g.8570617C>T - - KAL1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.953C>G r.(?) p.(Pro318Arg) - VUS g.8538649G>C g.8570608G>C ANOS1(NM_000216.3):c.953C>G (p.P318R), ANOS1(NM_000216.4):c.953C>G (p.P318R) - KAL1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.953C>G r.(?) p.(Pro318Arg) - likely benign g.8538649G>C - ANOS1(NM_000216.3):c.953C>G (p.P318R), ANOS1(NM_000216.4):c.953C>G (p.P318R) - KAL1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.955G>T r.(?) p.(Glu319Ter) - pathogenic g.8538647C>A g.8570606C>A - - KAL1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.963G>A r.(?) p.(Pro321=) - benign g.8538639C>T g.8570598C>T ANOS1(NM_000216.4):c.963G>A (p.P321=) - KAL1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.984C>A r.(?) p.(Tyr328Ter) - pathogenic g.8538618G>T g.8570577G>T - - KAL1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.1002G>A r.(?) p.(Trp334Ter) - pathogenic g.8538600C>T - - - KAL1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1063-11_1063-10insAGTTTTGGGTAT r.(=) p.(=) - VUS g.8536428_8536429insTACCCAAAACTA g.8568387_8568388insTACCCAAAACTA - - KAL1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.1085A>G r.(?) p.(Glu362Gly) - likely pathogenic g.8536395T>C g.8568354T>C - 46,XY KAL1_000033 - PubMed: Eggers 2016 - - Germline - - - - - Johan den Dunnen
?/. - c.1085A>G r.(?) p.(Glu362Gly) - VUS g.8536395T>C g.8568354T>C ANOS1(NM_000216.3):c.1085A>G (p.E362G), ANOS1(NM_000216.4):c.1085A>G (p.E362G) - KAL1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1085A>G r.(?) p.(Glu362Gly) - VUS g.8536395T>C - ANOS1(NM_000216.3):c.1085A>G (p.E362G), ANOS1(NM_000216.4):c.1085A>G (p.E362G) - KAL1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1085A>T r.(?) p.(Glu362Val) - VUS g.8536395T>A g.8568354T>A ANOS1(NM_000216.3):c.1085A>T (p.E362V) - KAL1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1187C>T r.(?) p.(Ser396Leu) - likely benign g.8536293G>A - ANOS1(NM_000216.3):c.1187C>T (p.S396L) - KAL1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1266A>G r.(?) p.(Arg422=) - likely benign g.8522081T>C - ANOS1(NM_000216.3):c.1266A>G (p.R422=) - KAL1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1345A>C r.(?) p.(Lys449Gln) - VUS g.8522002T>G - ANOS1(NM_000216.3):c.1345A>C (p.K449Q) - KAL1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1351G>A r.(?) p.(Glu451Lys) - likely benign g.8521996C>T - KAL1(NM_000216.2):c.1351G>A (p.(Glu451Lys)) - KAL1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.1354+19_1354+22del r.(=) p.(=) - benign g.8521978_8521981del - ANOS1(NM_000216.4):c.1354+19_1354+22delCTTA - KAL1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.1369C>T r.(?) p.(Arg457*) - pathogenic g.8507785G>A - ANOS1(NM_000216.3):c.1369C>T (p.R457*) - KAL1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1370G>A r.(?) p.(Arg457Gln) - VUS g.8507784C>T g.8539743C>T KAL1(NM_000216.2):c.1370G>A (p.(Arg457Gln)) - KAL1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1381C>T r.(?) p.(Arg461Trp) - likely benign g.8507773G>A - ANOS1(NM_000216.3):c.1381C>T (p.R461W) - KAL1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1419C>T r.(?) p.(Thr473=) - likely benign g.8507735G>A - ANOS1(NM_000216.3):c.1419C>T (p.T473=) - KAL1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1449+1G>A r.spl? p.? - pathogenic g.8507704C>T g.8539663C>T - - KAL1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.1488C>A r.(?) p.(Cys496*) - pathogenic g.8504945G>T - - - KAL1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 11 c.1505T>A r.(?) p.(Val502Asp) - VUS g.8504928A>T g.8536887A>T - - KAL1_000013 - - - - Germline ? - - - - Anna Alkelai
?/. 11 c.1532C>A r.(?) p.(Ser511Tyr) - VUS g.8504901G>T g.8536860G>T - - KAL1_000001 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. - c.1532C>A r.(?) p.(Ser511Tyr) - likely benign g.8504901G>T g.8536860G>T ANOS1(NM_000216.3):c.1532C>A (p.S511Y), ANOS1(NM_000216.4):c.1532C>A (p.S511Y) - KAL1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.1532C>A r.(?) p.(Ser511Tyr) - benign g.8504901G>T g.8536860G>T ANOS1(NM_000216.3):c.1532C>A (p.S511Y), ANOS1(NM_000216.4):c.1532C>A (p.S511Y) - KAL1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1532C>A r.(?) p.(Ser511Tyr) - likely benign g.8504901G>T g.8536860G>T ANOS1(NM_000216.3):c.1532C>A (p.S511Y), ANOS1(NM_000216.4):c.1532C>A (p.S511Y) - KAL1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1532C>A r.(?) p.(Ser511Tyr) - benign g.8504901G>T - ANOS1(NM_000216.3):c.1532C>A (p.S511Y), ANOS1(NM_000216.4):c.1532C>A (p.S511Y) - KAL1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 11 c.1600G>A r.(?) p.(Val534Ile) - likely benign g.8504833C>T g.8536792C>T - - KAL1_000002 - - - - Germline - - - - - Yu Sun
-?/. 11 c.1600G>A r.(?) p.(Val534Ile) - likely benign g.8504833C>T g.8536792C>T - - KAL1_000002 - - - - Germline - - - - - Yu Sun
?/. 11 c.1600G>A r.(?) p.(Val534Ile) - VUS g.8504833C>T g.8536792C>T - - KAL1_000002 recurrent, found 92 times PubMed: Tarpey 2009 - - Germline - 92/208 cases - - - Lucy Raymond
-/. - c.1600G>A r.(?) p.(Val534Ile) - benign g.8504833C>T g.8536792C>T ANOS1(NM_000216.4):c.1600G>A (p.V534I) - KAL1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.1600G>A r.(?) p.(Val534Ile) - benign g.8504833C>T g.8536792C>T ANOS1(NM_000216.4):c.1600G>A (p.V534I) - KAL1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.1621+2T>C r.spl? p.? - likely pathogenic g.8504810A>G g.8536769A>G - - KAL1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1621+39C>A r.(=) p.(=) - VUS g.8504773G>T g.8536732G>T - - KAL1_000008 - - - - Germline - - - - - Yu Sun
?/. - c.1621+39C>A r.(=) p.(=) - VUS g.8504773G>T g.8536732G>T - - KAL1_000008 - - - - Germline - - - - - Yu Sun
?/. - c.1678G>A r.(?) p.(Val560Ile) - VUS g.8503796C>T g.8535755C>T - 46,XY KAL1_000032 - PubMed: Eggers 2016 - - Germline - - - - - Johan den Dunnen
-?/. - c.1698C>T r.(?) p.(Thr566=) - likely benign g.8503776G>A g.8535735G>A ANOS1(NM_000216.3):c.1698C>T (p.T566=) - KAL1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 12 c.1759G>T r.(?) p.(Val587Leu) - VUS g.8503715C>A g.8535674C>A - - KAL1_000003 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 12 c.1759G>T r.(?) p.(Val587Leu) - likely benign g.8503715C>A g.8535674C>A - - KAL1_000003 - PubMed: Bosch 2016, Journal: Bosch 2016 - - Germline - - - - - Danielle Bosch
-/. - c.1759G>T r.(?) p.(Val587Leu) - benign g.8503715C>A g.8535674C>A ANOS1(NM_000216.3):c.1759G>T (p.V587L), ANOS1(NM_000216.4):c.1759G>T (p.V587L), KAL1(NM_000216.2):c.1759G>T (p.(Val587Leu)) - KAL1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1759G>T r.(?) p.(Val587Leu) - likely benign g.8503715C>A g.8535674C>A ANOS1(NM_000216.3):c.1759G>T (p.V587L), ANOS1(NM_000216.4):c.1759G>T (p.V587L), KAL1(NM_000216.2):c.1759G>T (p.(Val587Leu)) - KAL1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.1759G>T r.(?) p.(Val587Leu) - benign g.8503715C>A g.8535674C>A ANOS1(NM_000216.3):c.1759G>T (p.V587L), ANOS1(NM_000216.4):c.1759G>T (p.V587L), KAL1(NM_000216.2):c.1759G>T (p.(Val587Leu)) - KAL1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1759G>T r.(?) p.(Val587Leu) - likely benign g.8503715C>A g.8535674C>A ANOS1(NM_000216.3):c.1759G>T (p.V587L), ANOS1(NM_000216.4):c.1759G>T (p.V587L), KAL1(NM_000216.2):c.1759G>T (p.(Val587Leu)) - KAL1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 12 c.1833C>T r.(?) p.(=) - likely benign g.8503641G>A g.8535600G>A - - KAL1_000004 - - - - Germline - - - - - Yu Sun
-?/. 12 c.1833C>T r.(?) p.(=) - likely benign g.8503641G>A g.8535600G>A - - KAL1_000004 - - - - Germline - - - - - Yu Sun
-?/. 12 c.1833C>T r.(?) p.(=) - likely benign g.8503641G>A g.8535600G>A I611I - KAL1_000004 recurrent, found 100 times PubMed: Tarpey 2009 - - Germline - 100/208 cases - - - Lucy Raymond
-/. - c.1833C>T r.(?) p.(Ile611=) - benign g.8503641G>A g.8535600G>A ANOS1(NM_000216.4):c.1833C>T (p.I611=) - KAL1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.1833C>T r.(?) p.(Ile611=) - benign g.8503641G>A g.8535600G>A ANOS1(NM_000216.4):c.1833C>T (p.I611=) - KAL1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.1833C>T r.(?) p.(Ile611=) - benign g.8503641G>A g.8535600G>A ANOS1(NM_000216.4):c.1833C>T (p.I611=) - KAL1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.1842+1G>A r.spl? p.? - likely pathogenic g.8503631C>T g.8535590C>T - - KAL1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.1891C>T r.(?) p.(Arg631Ter) - pathogenic g.8502453G>A g.8534412G>A - - KAL1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1921G>A r.(?) p.(Gly641Arg) - VUS g.8502423C>T g.8534382C>T ANOS1(NM_000216.3):c.1921G>A (p.G641R) - KAL1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1959G>A r.(?) p.(Pro653=) - likely benign g.8502385C>T - ANOS1(NM_000216.3):c.1959G>A (p.P653=) - KAL1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2015A>G r.(?) p.(His672Arg) - VUS g.8501064T>C g.8533023T>C - 46,XY KAL1_000031 - PubMed: Eggers 2016 - - Germline - - - - - Johan den Dunnen
-?/. 14 c.*2057C>T r.(=) p.(=) - likely benign g.8498979G>A g.8530938G>A - - KAL1_000010 - - - - Germline - - - - - Yu Sun
-?/. 14 c.*2057C>T r.(=) p.(=) - likely benign g.8498979G>A g.8530938G>A - - KAL1_000010 - - - - Germline - - - - - Yu Sun
Legend   How to query