All variants in the A2ML1 gene

Information The variants shown are described using the NM_144670.4 transcript reference sequence.

183 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.9T>A r.(?) p.(Ala3=) - likely benign g.8975256T>A g.8822660T>A - - A2ML1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.21A>G r.(?) p.(Leu7=) - likely benign g.8975268A>G g.8822672A>G A2ML1(NM_144670.5):c.21A>G (p.L7=) - A2ML1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.21A>G r.(?) p.(Leu7=) - likely benign g.8975268A>G - A2ML1(NM_144670.5):c.21A>G (p.L7=) - A2ML1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.62+10T>C r.(=) p.(=) - likely benign g.8975319T>C g.8822723T>C A2ML1(NM_144670.6):c.62+10T>C - A2ML1_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.105C>T r.(?) p.(Ser35=) - likely benign g.8975820C>T - A2ML1(NM_144670.5):c.105C>T (p.S35=), A2ML1(NM_144670.6):c.105C>T (p.(Ser35=)) - A2ML1_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.105C>T r.(?) p.(Ser35=) - benign g.8975820C>T - A2ML1(NM_144670.5):c.105C>T (p.S35=), A2ML1(NM_144670.6):c.105C>T (p.(Ser35=)) - A2ML1_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.128T>C r.(?) p.(Leu43Pro) - VUS g.8975843T>C g.8823247T>C - - A2ML1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.158C>G r.(?) p.(Thr53Arg) - likely benign g.8975873C>G g.8823277C>G A2ML1(NM_144670.6):c.158C>G (p.T53R) - A2ML1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.158C>G r.(?) p.(Thr53Arg) - likely benign g.8975873C>G - A2ML1(NM_144670.6):c.158C>G (p.T53R) - A2ML1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.186C>T r.(?) p.(Thr62=) - benign g.8975901C>T g.8823305C>T A2ML1(NM_144670.6):c.186C>T (p.T62=) - A2ML1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.186C>T r.(?) p.(Thr62=) - benign g.8975901C>T g.8823305C>T A2ML1(NM_144670.6):c.186C>T (p.T62=) - A2ML1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.196C>T r.(?) p.(Leu66=) - likely benign g.8975911C>T g.8823315C>T A2ML1(NM_144670.5):c.196C>T (p.L66=) - A2ML1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.289C>G r.(?) p.(Arg97Gly) - likely benign g.8976358C>G g.8823762C>G A2ML1(NM_144670.5):c.289C>G (p.R97G), A2ML1(NM_144670.6):c.289C>G (p.R97G) - A2ML1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.289C>G r.(?) p.(Arg97Gly) - likely benign g.8976358C>G g.8823762C>G A2ML1(NM_144670.5):c.289C>G (p.R97G), A2ML1(NM_144670.6):c.289C>G (p.R97G) - A2ML1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.289C>G r.(?) p.(Arg97Gly) - likely benign g.8976358C>G g.8823762C>G A2ML1(NM_144670.5):c.289C>G (p.R97G), A2ML1(NM_144670.6):c.289C>G (p.R97G) - A2ML1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.357G>C r.(?) p.(Gly119=) - likely benign g.8976426G>C g.8823830G>C - - A2ML1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.420C>A r.(?) p.(Arg140=) - likely benign g.8982333C>A g.8829737C>A - - A2ML1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.462+16_462+18del r.(=) p.(=) - likely benign g.8982391_8982393del - A2ML1(NM_144670.5):c.462+16_462+18delGAG - A2ML1_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.463-9C>G r.(=) p.(=) - benign g.8987249C>G g.8834653C>G A2ML1(NM_144670.6):c.463-9C>G - A2ML1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.463-9C>G r.(=) p.(=) - benign g.8987249C>G - A2ML1(NM_144670.6):c.463-9C>G - A2ML1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.465C>A r.(?) p.(Tyr155Ter) - likely benign g.8987260C>A g.8834664C>A - - A2ML1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.483+7G>A r.(=) p.(=) - benign g.8987285G>A g.8834689G>A - - A2ML1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.500G>C r.(?) p.(Arg167Thr) - likely benign g.8988119G>C g.8835523G>C - - A2ML1_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.619G>C r.(?) p.(Gly207Arg) - benign g.8988238G>C g.8835642G>C A2ML1(NM_144670.6):c.619G>C (p.G207R) - A2ML1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.619G>C r.(?) p.(Gly207Arg) - benign g.8988238G>C - A2ML1(NM_144670.6):c.619G>C (p.G207R) - A2ML1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.621T>C r.(?) p.(Gly207=) - benign g.8988240T>C g.8835644T>C A2ML1(NM_144670.5):c.621T>C (p.G207=) - A2ML1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.746C>G r.(?) p.(Pro249Arg) - likely benign g.8990053C>G g.8837457C>G - - A2ML1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.855+9A>G r.(=) p.(=) - VUS g.8990171A>G g.8837575A>G A2ML1(NM_144670.5):c.855+9A>G - A2ML1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.855+9A>G r.(=) p.(=) - likely benign g.8990171A>G g.8837575A>G A2ML1(NM_144670.5):c.855+9A>G - A2ML1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.861C>A r.(?) p.(Asp287Glu) - benign g.8990937C>A g.8838341C>A A2ML1(NM_144670.6):c.861C>A (p.D287E) - A2ML1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.861C>A r.(?) p.(Asp287Glu) - benign g.8990937C>A - A2ML1(NM_144670.6):c.861C>A (p.D287E) - A2ML1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.863A>G r.(?) p.(Lys288Arg) - benign g.8990939A>G - A2ML1(NM_144670.6):c.863A>G (p.K288R) - A2ML1_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.971-3C>T r.spl? p.? - likely benign g.8991706C>T g.8839110C>T A2ML1(NM_144670.5):c.971-3C>T - A2ML1_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1050T>C r.(?) p.(Phe350=) - likely benign g.8991788T>C g.8839192T>C A2ML1(NM_144670.4):c.1050T>C (p.(Phe350=)) - A2ML1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1050T>C r.(?) p.(Phe350=) - likely benign g.8991788T>C g.8839192T>C A2ML1(NM_144670.4):c.1050T>C (p.(Phe350=)) - A2ML1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.1101T>C r.(?) p.(Asp367=) - benign g.8993985T>C g.8841389T>C A2ML1(NM_144670.6):c.1101T>C (p.D367=) - A2ML1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.1101T>C r.(?) p.(Asp367=) - benign g.8993985T>C - A2ML1(NM_144670.6):c.1101T>C (p.D367=) - A2ML1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1109T>C r.(?) p.(Phe370Ser) - benign g.8993993T>C g.8841397T>C A2ML1(NM_144670.4):c.1109T>C, A2ML1(NM_144670.6):c.1109T>C (p.F370S) - A2ML1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.1109T>C r.(?) p.(Phe370Ser) - benign g.8993993T>C - A2ML1(NM_144670.4):c.1109T>C, A2ML1(NM_144670.6):c.1109T>C (p.F370S) - A2ML1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1152T>C r.(?) p.(Asn384=) - likely benign g.8994036T>C g.8841440T>C A2ML1(NM_144670.6):c.1152T>C (p.N384=) - A2ML1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1215A>G r.(?) p.(Thr405=) - benign g.8994099A>G g.8841503A>G - - A2ML1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.1275A>G r.(?) p.(Val425=) - benign g.8995756A>G g.8843160A>G A2ML1(NM_144670.6):c.1275A>G (p.V425=) - A2ML1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.1275A>G r.(?) p.(Val425=) - benign g.8995756A>G g.8843160A>G A2ML1(NM_144670.6):c.1275A>G (p.V425=) - A2ML1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1280A>G r.(?) p.(Asn427Ser) - likely benign g.8995761A>G g.8843165A>G A2ML1(NM_144670.5):c.1280A>G (p.N427S) - A2ML1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1280A>G r.(?) p.(Asn427Ser) - likely benign g.8995761A>G g.8843165A>G A2ML1(NM_144670.5):c.1280A>G (p.N427S) - A2ML1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1313C>T r.(?) p.(Ala438Val) - VUS g.8995794C>T - A2ML1(NM_144670.6):c.1313C>T (p.A438V) - A2ML1_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1349G>A r.(?) p.(Arg450His) - likely benign g.8995830G>A - A2ML1(NM_144670.6):c.1349G>A (p.(Arg450His)) - A2ML1_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1368C>T r.(?) p.(His456=) - likely benign g.8995849C>T g.8843253C>T - - A2ML1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1433C>T r.(?) p.(Pro478Leu) - likely benign g.8995914C>T g.8843318C>T - - A2ML1_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1438G>A r.(?) p.(Asp480Asn) - likely benign g.8995919G>A g.8843323G>A A2ML1(NM_144670.5):c.1438G>A (p.D480N) - A2ML1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1438G>A r.(?) p.(Asp480Asn) - likely benign g.8995919G>A - A2ML1(NM_144670.5):c.1438G>A (p.D480N) - A2ML1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1444_1445del r.(?) p.(Ser482ProfsTer2) - benign g.8995925_8995926del g.8843329_8843330del A2ML1(NM_144670.6):c.1444_1445delAG (p.S482Pfs*2) - A2ML1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1476+8C>T r.(=) p.(=) - benign g.8995965C>T - A2ML1(NM_144670.6):c.1476+8C>T - A2ML1_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1476+9G>A r.(=) p.(=) - benign g.8995966G>A g.8843370G>A A2ML1(NM_144670.6):c.1476+9G>A - A2ML1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.1476+9G>A r.(=) p.(=) - benign g.8995966G>A g.8843370G>A A2ML1(NM_144670.6):c.1476+9G>A - A2ML1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1477-197G>T r.(=) p.(=) - benign g.8997841G>T g.8845245G>T A2ML1(NM_144670.6):c.1477-197G>T - A2ML1_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1477-13T>C r.(=) p.(=) - likely benign g.8998025T>C g.8845429T>C - - A2ML1_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1477T>C r.(?) p.(Leu493=) - likely benign g.8998038T>C g.8845442T>C A2ML1(NM_144670.5):c.1477T>C (p.L493=), A2ML1(NM_144670.6):c.1477T>C (p.L493=) - A2ML1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1477T>C r.(?) p.(Leu493=) - likely benign g.8998038T>C - A2ML1(NM_144670.5):c.1477T>C (p.L493=), A2ML1(NM_144670.6):c.1477T>C (p.L493=) - A2ML1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1487A>G r.(?) p.(Lys496Arg) - likely benign g.8998048A>G g.8845452A>G - - A2ML1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1537+5G>A r.spl? p.? - likely benign g.8998103G>A - A2ML1(NM_144670.6):c.1537+5G>A - A2ML1_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1684-10C>T r.(=) p.(=) - likely benign g.9000135C>T g.8847539C>T A2ML1(NM_144670.5):c.1684-10C>T - A2ML1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1686T>G r.(?) p.(Val562=) - benign g.9000147T>G g.8847551T>G A2ML1(NM_144670.6):c.1686T>G (p.V562=) - A2ML1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.1686T>G r.(?) p.(Val562=) - benign g.9000147T>G g.8847551T>G A2ML1(NM_144670.6):c.1686T>G (p.V562=) - A2ML1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1699T>C r.(?) p.(Ser567Pro) - likely benign g.9000160T>C g.8847564T>C - - A2ML1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1704dup r.(?) p.(Ser569LeufsTer28) - VUS g.9000165dup - A2ML1(NM_144670.5):c.1704dupC (p.S569Lfs*28) - A2ML1_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1745A>G r.(?) p.(Gln582Arg) - benign g.9000206A>G g.8847610A>G A2ML1(NM_144670.6):c.1745A>G (p.Q582R) - A2ML1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1775G>A r.(?) p.(Arg592Gln) - VUS g.9000236G>A - A2ML1(NM_144670.5):c.1775G>A (p.R592Q) - A2ML1_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1775G>T r.(?) p.(Arg592Leu) - VUS g.9000236G>T g.8847640G>T - - A2ML1_000001 variant segregates with disease phenotype in the family PubMed: Vissers 2014 - - Germline yes - - - - Lisenka Vissers
-?/. - c.1775G>T r.(?) p.(Arg592Leu) - likely benign g.9000236G>T g.8847640G>T - - A2ML1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1873del r.(?) p.(Tyr625IlefsTer56) - VUS g.9001355del g.8848759del A2ML1(NM_144670.5):c.1873delT (p.Y625Ifs*56) - A2ML1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1961C>T r.(?) p.(Ser654Leu) - likely benign g.9001443C>T - A2ML1(NM_144670.4):c.1961C>T (p.(Ser654Leu)) - A2ML1_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2006C>T r.(?) p.(Thr669Met) - likely benign g.9001488C>T g.8848892C>T A2ML1(NM_144670.5):c.2006C>T (p.T669M) - A2ML1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.2006C>T r.(?) p.(Thr669Met) - likely benign g.9001488C>T - A2ML1(NM_144670.5):c.2006C>T (p.T669M) - A2ML1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2026C>T r.(?) p.(Arg676Trp) - likely benign g.9001508C>T g.8848912C>T A2ML1(NM_144670.5):c.2026C>T (p.R676W) - A2ML1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2026C>T r.(?) p.(Arg676Trp) - likely benign g.9001508C>T g.8848912C>T A2ML1(NM_144670.5):c.2026C>T (p.R676W) - A2ML1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.2027G>A r.(?) p.(Arg676Gln) - likely benign g.9001509G>A g.8848913G>A - - A2ML1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.2029-5A>C r.spl? p.? - benign g.9002260A>C g.8849664A>C - - A2ML1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.2117G>A r.(?) p.(Gly706Asp) - likely benign g.9002353G>A g.8849757G>A - - A2ML1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.2145del r.(?) p.(Phe715LeufsTer52) - VUS g.9002781del g.8850185del A2ML1(NM_144670.5):c.2145delT (p.F715Lfs*52), A2ML1(NM_144670.6):c.2145del (p.(Phe715Leufs*52)) - A2ML1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2145del r.(?) p.(Phe715LeufsTer52) - likely benign g.9002781del - A2ML1(NM_144670.5):c.2145delT (p.F715Lfs*52), A2ML1(NM_144670.6):c.2145del (p.(Phe715Leufs*52)) - A2ML1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2173G>A r.(?) p.(Glu725Lys) - likely benign g.9002809G>A g.8850213G>A - - A2ML1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.2197T>C r.(?) p.(Phe733Leu) - VUS g.9002833T>C g.8850237T>C A2ML1(NM_144670.5):c.2197T>C (p.F733L) - A2ML1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2249A>C r.(?) p.(Glu750Ala) - likely benign g.9004394A>C g.8851798A>C A2ML1(NM_144670.5):c.2249A>C (p.E750A) - A2ML1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.2249A>C r.(?) p.(Glu750Ala) - likely benign g.9004394A>C - A2ML1(NM_144670.5):c.2249A>C (p.E750A) - A2ML1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.2252C>T r.(?) p.(Ala751Val) - benign g.9004397C>T g.8851801C>T A2ML1(NM_144670.6):c.2252C>T (p.A751V) - A2ML1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.2252C>T r.(?) p.(Ala751Val) - benign g.9004397C>T g.8851801C>T A2ML1(NM_144670.6):c.2252C>T (p.A751V) - A2ML1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.2295G>A r.(?) p.(Ala765=) - benign g.9004440G>A g.8851844G>A - - A2ML1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.2367G>A r.(?) p.(Pro789=) - benign g.9004512G>A g.8851916G>A A2ML1(NM_144670.6):c.2367G>A (p.P789=) - A2ML1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.2367G>A r.(?) p.(Pro789=) - benign g.9004512G>A g.8851916G>A A2ML1(NM_144670.6):c.2367G>A (p.P789=) - A2ML1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.2367G>A r.(?) p.(Pro789=) - benign g.9004512G>A g.8851916G>A A2ML1(NM_144670.6):c.2367G>A (p.P789=) - A2ML1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.2405G>A r.(?) p.(Arg802His) - likely pathogenic g.9004550G>A g.8851954G>A - - A2ML1_000003 validated de novo by Sanger sequencing and testing parental DNAs PubMed: Vissers 2014 - - De novo yes - - - - Lisenka Vissers
-?/. - c.2405G>A r.(?) p.(Arg802His) - likely benign g.9004550G>A g.8851954G>A A2ML1(NM_144670.5):c.2405G>A (p.R802H) - A2ML1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.2405G>A r.(?) p.(Arg802His) - VUS g.9004550G>A - A2ML1(NM_144670.5):c.2405G>A (p.R802H) - A2ML1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2405G>T r.(?) p.(Arg802Leu) - VUS g.9004550G>T g.8851954G>T - - A2ML1_000002 case 2 and 3 affected, case 4 not; variant may be non-penetrant in case 4 PubMed: Vissers 2014 - - Germline yes - - - - Lisenka Vissers
?/. - c.2405G>T r.(?) p.(Arg802Leu) - VUS g.9004550G>T g.8851954G>T A2ML1(NM_144670.5):c.2405G>T (p.R802L) - A2ML1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2405G>T r.(?) p.(Arg802Leu) - VUS g.9004550G>T g.8851954G>T A2ML1(NM_144670.5):c.2405G>T (p.R802L) - A2ML1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.2463+13G>C r.(=) p.(=) - likely benign g.9004621G>C g.8852025G>C - - A2ML1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.2464G>A r.(?) p.(Val822Ile) - likely benign g.9004806G>A g.8852210G>A - - A2ML1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.2486C>T r.(?) p.(Ser829Leu) - likely benign g.9004828C>T g.8852232C>T - - A2ML1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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