Full data view for gene AIFM3

Information The variants shown are described using the NM_144704.2 transcript reference sequence.

27 entries on 1 page. Showing entries 1 - 27.
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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.-2480349_*495242dup r.? p.? Unknown - pathogenic (recessive) g.18839287_21830562dup - - - ARVCF_000005 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
./. - c.-2430597_*128799del r.0? p.0? Unknown - pathogenic (recessive) g.18889039_21464119del - - - ARVCF_000002 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected father/child F - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
./. - c.-2426073_*128799del r.0? p.0? Unknown - pathogenic (recessive) g.18893563_21464119del - - - ARVCF_000003 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
./. - c.-2296473_*128799del r.0? p.0? Unknown - pathogenic (recessive) g.19023163_21464119del - - - ARVCF_000004 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
-?/. - c.*1330G>A r.(=) p.(=) Unknown - likely benign g.21336650G>A - LZTR1(NM_006767.4):c.-11G>A - AIFM3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1362G>T r.(=) p.(=) Unknown - VUS g.21336682G>T g.20982393G>T LZTR1(NM_006767.3):c.22G>T (p.G8W) - AIFM3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1366G>A r.(=) p.(=) Unknown - likely benign g.21336686G>A g.20982397G>A LZTR1(NM_006767.3):c.26G>A (p.(Gly9Glu)) - AIFM3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*1367del r.(?) p.(=) Unknown - pathogenic g.21336687del - LZTR1(NM_006767.4):c.27delG (p.Q10Rfs*15) - LZTR1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1399C>T r.(=) p.(=) Unknown - VUS g.21336719C>T - LZTR1(NM_006767.4):c.59C>T (p.A20V) - AIFM3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1983C>T r.(=) p.(=) Unknown - benign g.21337303C>T g.20983014C>T LZTR1(NM_006767.4):c.201-13C>T - AIFM3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1988C>T r.(=) p.(=) Unknown - benign g.21337308C>T g.20983019C>T LZTR1(NM_006767.4):c.201-8C>T - AIFM3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1988C>T r.(=) p.(=) Unknown - benign g.21337308C>T - LZTR1(NM_006767.4):c.201-8C>T - AIFM3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2005G>A r.(=) p.(=) Unknown - benign g.21337325G>A g.20983036G>A LZTR1(NM_006767.3):c.210G>A (p.K70=), LZTR1(NM_006767.4):c.210G>A (p.K70=) - LZTR1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2005G>A r.(=) p.(=) Unknown - benign g.21337325G>A g.20983036G>A LZTR1(NM_006767.3):c.210G>A (p.K70=), LZTR1(NM_006767.4):c.210G>A (p.K70=) - LZTR1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2005G>A r.(=) p.(=) Unknown - benign g.21337325G>A g.20983036G>A LZTR1(NM_006767.3):c.210G>A (p.K70=), LZTR1(NM_006767.4):c.210G>A (p.K70=) - LZTR1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2040T>A r.(=) p.(=) Unknown - VUS g.21337360T>A g.20983071T>A LZTR1(NM_006767.4):c.245T>A (p.V82E) - AIFM3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*4797G>A r.(=) p.(=) Unknown - likely pathogenic g.21340117G>A g.20985828G>A LZTR1(NM_006767.4):c.264-13G>A - LZTR1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*4797G>A r.(=) p.(=) Unknown - likely pathogenic g.21340117G>A - LZTR1(NM_006767.4):c.264-13G>A - LZTR1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*4818T>C r.(=) p.(=) Unknown - likely pathogenic g.21340138T>C - - - AIFM3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4819G>A r.(=) p.(=) Unknown - VUS g.21340139G>A g.20985850G>A - - AIFM3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4866G>C r.(=) p.(=) Unknown - VUS g.21340186G>C g.20985897G>C LZTR1(NM_006767.3):c.320G>C (p.R107T, p.(Arg107Thr)) - LZTR1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4866G>C r.(=) p.(=) Unknown - VUS g.21340186G>C g.20985897G>C LZTR1(NM_006767.3):c.320G>C (p.R107T, p.(Arg107Thr)) - LZTR1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4866G>C r.(=) p.(=) Unknown - VUS g.21340186G>C - LZTR1(NM_006767.3):c.320G>C (p.R107T, p.(Arg107Thr)) - LZTR1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*4868T>G r.(=) p.(=) Unknown - likely pathogenic g.21340188T>G g.20985899T>G - - AIFM3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4871G>T r.(=) p.(=) Unknown - VUS g.21340191G>T - LZTR1(NM_006767.4):c.320+5G>T - AIFM3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4878C>T r.(=) p.(=) Unknown - benign g.21340198C>T g.20985909C>T LZTR1(NM_006767.4):c.320+12C>T - AIFM3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4878C>T r.(=) p.(=) Unknown - benign g.21340198C>T g.20985909C>T LZTR1(NM_006767.4):c.320+12C>T - AIFM3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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