Unique variants in gene AIFM1

Information The variants shown are described using the NM_004208.3 transcript reference sequence.

61 entries on 1 page. Showing entries 1 - 61.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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 1 c.-123G>C Likely pathogenic r.(=) p.(=) g.129299753C>G - - - AIFM1_000068 - MORL Deafness Variation Database - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
-?/. 4 - c.72C>T likely benign r.(?) p.(=) g.129299559G>A - AIFM1(NM_001130847.3):c.72C>T (p.C24=, p.=) - AIFM1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
-/., -?/. 3 - c.103C>T benign, likely benign r.(?) p.(Pro35Ser) g.129299528G>A - AIFM1(NM_001130847.3):c.103C>T (p.P35S, p.(Pro35Ser)) - AIFM1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Leiden
-?/. 1 - c.119A>G likely benign r.(?) p.(Gln40Arg) g.129290565T>C - AIFM1(NM_001130847.3):c.119A>G (p.Q40R) - AIFM1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.170C>G VUS r.(?) p.(Ser57Cys) g.129290514G>C - AIFM1(NM_001130847.3):c.170C>G (p.S57C) - AIFM1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam
?/. 1 - c.173G>T VUS r.(?) p.(Gly58Val) g.129290511C>A - AIFM1(NM_001130847.3):c.173G>T (p.G58V) - AIFM1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.249+1179C>T VUS r.(=) p.(=) g.129289256G>A - - - AIFM1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.249+1206A>G likely benign r.(=) p.(=) g.129289229T>C - AIFM1(NM_145812.2):c.139A>G (p.R47G) - AIFM1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 3 c.261T>C - r.(?) p.(=) g.129283532A>G g.130149557A>G D87D - AIFM1_000001 recurrent, found 80 times PubMed: Tarpey 2009 - - Germline - 80/208 cases - - - Lucy Raymond
-?/. 1 - c.262A>G likely benign r.(?) p.(Met88Val) g.129283531T>C - AIFM1(NM_001130847.3):c.262A>G (p.M88V) - AIFM1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.268G>A VUS r.(?) p.(Glu90Lys) g.129283525C>T - AIFM1(NM_001130847.3):c.268G>A (p.E90K) - AIFM1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/., -/. 2 3 c.273T>C benign r.(?) p.(=) g.129283520A>G g.130149545A>G D91D, AIFM1(NM_001130847.3):c.273T>C (p.D91=) - AIFM1_000002 recurrent, found 88 times, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - Germline, CLASSIFICATION record - 88/208 cases - - - Lucy Raymond, VKGL-NL_AMC
?/. 1 - c.287A>G VUS r.(?) p.(Asn96Ser) g.129283506T>C - AIFM1(NM_001130847.3):c.287A>G (p.(Asn96Ser)) - AIFM1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/+? 1 4 c.434C>T Likely pathogenic r.(?) p.(Ala145Val) g.129281767G>A - - - AIFM1_000067 - MORL Deafness Variation Database - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+?/+? 1 4 c.452G>A Likely pathogenic r.(?) p.(Arg151Gln) g.129281749C>T - - - AIFM1_000066 - MORL Deafness Variation Database - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
?/? 1 5 c.497C>T VUS r.(?) p.(Pro166Leu) g.129281576G>A - - - AIFM1_000065 - 1 more item - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+?/+? 1 5 c.572_573delinsCT Likely pathogenic r.(?) p.(Leu191Pro) g.129281500_129281501delinsAG - - - AIFM1_000064 - MORL Deafness Variation Database - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+/+ 1 5 c.601_603del Pathogenic r.(?) p.(Arg201del) g.129281470_129281472del - - - AIFM1_000063 - MORL Deafness Variation Database, PubMed: Ghezzi 2010 - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+/+ 1 6 c.623C>T Pathogenic r.(?) p.(Pro208Leu) g.129279527G>A - - - AIFM1_000062 - MORL Deafness Variation Database, PubMed: Calvo 2010 - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
-?/. 1 5i c.696+47A>C - r.(=) p.(=) g.129279407T>G g.130145432T>G - - AIFM1_000008 - - - - Germline - - - - - Yu Sun
+/+ 1 7 c.727G>T Pathogenic r.(?) p.(Val243Leu) g.129274562C>A - - - AIFM1_000061 - MORL Deafness Variation Database, PubMed: Kettwig 2015 - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
?/. 1 - c.761A>G VUS r.(?) p.(Glu254Gly) g.129274528T>C - AIFM1(NM_001130847.3):c.761A>G (p.E254G) - AIFM1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 7 c.778A>G Pathogenic r.(?) p.(Thr260Ala) g.129274511T>C - - - AIFM1_000060 - MORL Deafness Variation Database, PubMed: Zong 2015 - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
?/. 1 8 c.789G>A - r.(?) p.? g.129273839C>T g.130139864C>T L263L - AIFM1_000003 1 more item PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 1 8 c.801G>A - r.(?) p.(=) g.129273827C>T g.130139852C>T L267L - AIFM1_000004 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 1 - c.824C>T VUS r.(?) p.(Ala275Val) g.129273804G>A - AIFM1(NM_001130847.3):c.824C>T (p.A275V) - AIFM1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.844A>G VUS r.(?) p.(Thr282Ala) g.129273784T>C - - - AIFM1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/+? 1 8 c.845C>T Likely pathogenic r.(?) p.(Thr282Met) g.129273783G>A - - - AIFM1_000059 - MORL Deafness Variation Database - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+?/+? 1 9 c.860T>C Likely pathogenic r.(?) p.(Ile287Thr) g.129272675A>G - - - AIFM1_000058 - MORL Deafness Variation Database - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
-/. 1 - c.918C>T benign r.(?) p.(=) g.129272617G>A - AIFM1(NM_001130847.3):c.918C>T (p.I306=) - AIFM1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+ 1 9 c.923G>A Pathogenic r.(?) p.(Gly308Glu) g.129272612C>T - - - AIFM1_000057 - MORL Deafness Variation Database, PubMed: Berger 2011 - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
-?/. 2 - c.939C>T likely benign r.(?) p.(=) g.129272596G>A - AIFM1(NM_001130847.3):c.939C>T (p.S313=) - AIFM1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/. 1 - c.996A>G benign r.(?) p.(=) g.129271132T>C - AIFM1(NM_004208.3):c.996A>G (p.Q332=) - AIFM1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 10 c.1013G>A - r.(?) p.(Gly338Glu) g.129271115C>T g.130137140C>T - - AIFM1_000005 - - - - Germline - - - - - Daria Diodato
+/+ 1 10 c.1019T>C Pathogenic r.(?) p.(Met340Thr) g.129271109A>G - - - AIFM1_000056 - MORL Deafness Variation Database, PubMed: Zhu 2015 - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+/+ 1 10 c.1030C>T Pathogenic r.(?) p.(Leu344Phe) g.129271098G>A - - - AIFM1_000055 - MORL Deafness Variation Database, PubMed: Zong 2015 - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+?/+? 1 11 c.1078G>C Likely pathogenic r.(?) p.(Gly360Arg) g.129270704C>G - - - AIFM1_000054 - MORL Deafness Variation Database - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+?/+?, -?/. 2 11 c.1097A>G Likely pathogenic, likely benign r.(?) p.(Asn366Ser) g.129270685T>C - AIFM1(NM_004208.3):c.1097A>G (p.N366S) - AIFM1_000040 VKGL data sharing initiative Nederland MORL Deafness Variation Database - - SUMMARY record, CLASSIFICATION record - - - - - LOVD-team, but with Curator vacancy, VKGL-NL_Rotterdam
-?/-? 1 11 c.1113C>T Likely benign r.(=) p.(=) g.129270669G>A - - - AIFM1_000053 - MORL Deafness Variation Database - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
-?/. 1 - c.1117G>A likely benign r.(?) p.(Gly373Arg) g.129270665C>T - AIFM1(NM_004208.3):c.1117G>A (p.G373R) - AIFM1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/+? 1 12 c.1184T>G Likely pathogenic r.(?) p.(Val395Gly) g.129270141A>C - - - AIFM1_000052 - MORL Deafness Variation Database - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
-?/., -/. 2 - c.1227T>G likely benign, benign r.(?) p.(=) g.129270098A>C - AIFM1(NM_004208.3):c.1227T>G (p.T409=) - AIFM1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
+/+ 1 12 c.1264C>T Pathogenic r.(?) p.(Arg422Trp) g.129270061G>A - - - AIFM1_000051 - MORL Deafness Variation Database, PubMed: Zong 2015 - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+/+ 1 12 c.1265G>A Pathogenic r.(?) p.(Arg422Gln) g.129270060C>T - - - AIFM1_000050 - MORL Deafness Variation Database, PubMed: Zong 2015 - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
-?/. 1 12i c.1306-34del - r.(=) p.(=) g.129267464del g.130133489del - - AIFM1_000007 - - - - Germline - - - - - Yu Sun
+?/+? 1 13 c.1319C>T Likely pathogenic r.(?) p.(Ala440Val) g.129267417G>A - - - AIFM1_000049 - MORL Deafness Variation Database - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
-/., -?/. 2 - c.1329C>T benign, likely benign r.(?) p.(=) g.129267407G>A - AIFM1(NM_004208.3):c.1329C>T (p.Y443=) - AIFM1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam
?/. 1 - c.1334T>C VUS r.(?) p.(Ile445Thr) g.129267402A>G - - - AIFM1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+, +/. 2 13 c.1352G>A Pathogenic r.(?) p.(Arg451Gln) g.129267384C>T - AIFM1(NM_004208.3):c.1352G>A (p.(Arg451Gln)) - AIFM1_000033 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Wang 2006, PubMed: Zong 2015 - - SUMMARY record, CLASSIFICATION record - - - - - LOVD-team, but with Curator vacancy, VKGL-NL_Leiden
?/. 1 - c.1388G>T VUS r.(?) p.(Arg463Ile) g.129267348C>A - AIFM1(NM_004208.3):c.1388G>T (p.R463I) - AIFM1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/+? 1 13 c.1424C>T Likely pathogenic r.(?) p.(Pro475Leu) g.129267312G>A - - - AIFM1_000048 - MORL Deafness Variation Database - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
-?/. 1 - c.1449-5_1449-3del likely benign r.spl? p.? g.129265781_129265783del - AIFM1(NM_001130847.3):c.*677-5_*677-3delCTT - AIFM1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1473C>T likely benign r.(?) p.(=) g.129265750G>A - AIFM1(NM_004208.3):c.1473C>T (p.G491=) - AIFM1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1474T>C - r.(?) p.(Tyr492His) g.129265749A>G g.130131774A>G - - AIFM1_000043 moderate genotype/phenotype correlation PubMed: Pronicka 2016 - - Germline - 1/113 cases - - - Johan den Dunnen
+/+ 1 14 c.1478A>T Pathogenic r.(?) p.(Glu493Val) g.129265745T>A - - - AIFM1_000047 - MORL Deafness Variation Database, PubMed: Cowchock 1985, PubMed: Bird 1993, PubMed: Rinaldi 2012 - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+?/+? 1 14 c.1492G>A Likely pathogenic r.(?) p.(Val498Met) g.129265731C>T - - - AIFM1_000046 - MORL Deafness Variation Database - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
?/. 1 - c.1592A>C VUS r.(?) p.(Glu531Ala) g.129264123T>G - AIFM1(NM_004208.3):c.1592A>C (p.E531A) - AIFM1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.1627A>G VUS r.(?) p.(Ile543Val) g.129264088T>C - AIFM1(NM_001130846.2):c.571A>G (p.(Ile191Val)) - AIFM1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1661C>T VUS r.(?) p.(Pro554Leu) g.129264054G>A - AIFM1(NM_004208.3):c.1661C>T (p.P554L) - AIFM1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/+? 1 15 c.1678T>C Likely pathogenic r.(?) p.(Tyr560His) g.129264037A>G - - - AIFM1_000045 - MORL Deafness Variation Database - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+?/+? 1 16 c.1820T>A Likely pathogenic r.(?) p.(Leu607Gln) g.129263554A>T - - - AIFM1_000044 - MORL Deafness Variation Database - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
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