Full data view for gene AFG3L2

Information The variants shown are described using the NM_006796.2 transcript reference sequence.

133 entries on 2 pages. Showing entries 1 - 100.
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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     
-/. 1 c.-96G>C r.(?) p.(=) Parent #1 - benign g.12377177C>G g.12377178C>G - - AFG3L2_000001 - PubMed: Di Bella 2010 - rs12327346 Germline - 8/300 - - - DNA SEQ, HPLC - - - - PubMed: Di Bella 2010 - - - - - - - - - 8 Jacopo Celli
-/. - c.-96G>C r.(?) p.(=) Unknown - benign g.12377177C>G g.12377178C>G AFG3L2(NM_006796.2):c.-96G>C - AFG3L2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-71C>T r.(?) p.(=) Unknown - benign g.12377152G>A g.12377153G>A AFG3L2(NM_006796.2):c.-71C>T - AFG3L2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-52G>A r.(?) p.(=) Unknown - benign g.12377133C>T g.12377134C>T AFG3L2(NM_006796.2):c.-52G>A - AFG3L2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-16G>A r.(?) p.(=) Unknown - likely benign g.12377097C>T - AFG3L2(NM_006796.3):c.-16G>A - AFG3L2_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5C>T r.(?) p.(Ala2Val) Maternal (confirmed) - VUS g.12377077G>A - - - AFG3L2_000069 - PubMed: Thomas 2022 - - Germline - - - - - DNA SEQ-NG - - ? Pat03 PubMed: Thomas 2022 - - - France - - - - - 1 Johan den Dunnen
?/. - c.31C>G r.(?) p.(Arg11Gly) Unknown - VUS g.12377051G>C - AFG3L2(NM_006796.3):c.31C>G (p.(Arg11Gly)) - AFG3L2_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.31C>T r.(?) p.(Arg11Trp) Unknown - likely benign g.12377051G>A g.12377052G>A AFG3L2(NM_006796.2):c.31C>T (p.(Arg11Trp)) - AFG3L2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.46C>T r.(?) p.(Pro16Ser) Unknown - VUS g.12377036G>A g.12377037G>A AFG3L2(NM_006796.2):c.46C>T (p.P16S), AFG3L2(NM_006796.3):c.46C>T (p.(Pro16Ser)) - AFG3L2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.46C>T r.(?) p.(Pro16Ser) Unknown - VUS g.12377036G>A - AFG3L2(NM_006796.2):c.46C>T (p.P16S), AFG3L2(NM_006796.3):c.46C>T (p.(Pro16Ser)) - AFG3L2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.82G>A r.(?) p.(Val28Met) Unknown - likely benign g.12377000C>T g.12377001C>T AFG3L2(NM_006796.2):c.82G>A (p.V28M) - AFG3L2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.121C>T r.(?) p.(Arg41*) Unknown - VUS g.12371684G>A - - - AFG3L2_000068 - PubMed: Thomas 2022 - - De novo - - - - - DNA SEQ-NG - - ? Pat03 PubMed: Thomas 2022 - - - France - - - - - 1 Johan den Dunnen
?/. - c.214+3A>G r.spl? p.? Unknown - VUS g.12371588T>C - AFG3L2(NM_006796.3):c.214+3A>G - AFG3L2_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.214+158T>C r.(=) p.(=) Unknown - likely benign g.12371433A>G g.12371434A>G AFG3L2(NM_006796.2):c.214+158T>C - AFG3L2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.215-13C>T r.(=) p.(=) Unknown - benign g.12370938G>A g.12370939G>A AFG3L2(NM_006796.2):c.215-13C>T - AFG3L2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.215-5A>C r.spl? p.? Unknown - benign g.12370930T>G g.12370931T>G AFG3L2(NM_006796.2):c.215-5A>C - AFG3L2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.215-5A>C r.spl? p.? Unknown - likely benign g.12370930T>G - AFG3L2(NM_006796.2):c.215-5A>C - AFG3L2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 3i c.293-61A>G r.(?) p.(=) Parent #1 - likely benign g.12367442T>C g.12367443T>C - - AFG3L2_000002 - PubMed: Di Bella 2010 - rs8093375 Germline - - - - - DNA SEQ - - - - PubMed: Di Bella 2010 - - - - - - - - - 1 Jacopo Celli
-?/. - c.293-14_293-13del r.(=) p.(=) Unknown - likely benign g.12367395_12367396del g.12367396_12367397del AFG3L2(NM_006796.2):c.293-14_293-13delTT, AFG3L2(NM_006796.3):c.293-14_293-13delTT - AFG3L2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.293-14_293-13del r.(=) p.(=) Unknown - likely benign g.12367395_12367396del - AFG3L2(NM_006796.2):c.293-14_293-13delTT, AFG3L2(NM_006796.3):c.293-14_293-13delTT - AFG3L2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.293-14_293-13del r.(=) p.(=) Unknown - likely benign g.12367395_12367396del - AFG3L2(NM_006796.2):c.293-14_293-13delTT, AFG3L2(NM_006796.3):c.293-14_293-13delTT - AFG3L2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.378C>G r.(?) p.(His126Gln) Parent #1 - VUS g.12367296G>C g.12367297G>C - - AFG3L2_000021 - PubMed: Di Bella 2010 - - Germline - - - - - DNA SEQ - - SCA - PubMed: Di Bella 2010 - - - - - - - - - 1 Johan den Dunnen
-?/. 4i c.400-14C>G r.(?) p.(=) Parent #1 - likely benign g.12367130G>C g.12367131G>C - - AFG3L2_000004 - PubMed: Di Bella 2010 - - Germline - 2/300 - - - DNA SEQ, HPLC - - - - PubMed: Di Bella 2010 - - - - - - - - - 2 Jacopo Celli
-?/. - c.400-14C>G r.(=) p.(=) Unknown - likely benign g.12367130G>C - AFG3L2(NM_006796.2):c.400-14C>G, AFG3L2(NM_006796.3):c.400-14C>G - AFG3L2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.400-14C>G r.(=) p.(=) Unknown - likely benign g.12367130G>C - AFG3L2(NM_006796.2):c.400-14C>G, AFG3L2(NM_006796.3):c.400-14C>G - AFG3L2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.443T>A r.(?) p.(Leu148His) Unknown - VUS g.12367073A>T - AFG3L2(NM_006796.3):c.443T>A (p.L148H) - AFG3L2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.530A>G r.(?) p.(Asn177Ser) Unknown - VUS g.12366986T>C - AFG3L2(NM_006796.3):c.530A>G (p.(Asn177Ser)) - AFG3L2_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 5i c.553-95G>A r.(?) p.(=) Parent #1 - likely benign g.12363950C>T g.12363951C>T 400-95G>A - AFG3L2_000003 - PubMed: Di Bella 2010 - rs2298542 Germline - - - - - DNA SEQ, HPLC - - - - PubMed: Di Bella 2010 - - - - - - - - - 1 Jacopo Celli
-?/. - c.581G>A r.(?) p.(Arg194His) Unknown - likely benign g.12363827C>T g.12363828C>T AFG3L2(NM_006796.2):c.581G>A (p.(Arg194His)) - AFG3L2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.613dup r.(?) p.(Thr205Asnfs*4) Unknown - pathogenic g.12363799dup - AFG3L2(NM_006796.3):c.613dupA (p.T205Nfs*4) - AFG3L2_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.670C>T r.(?) p.(Arg224Trp) Unknown - VUS g.12360008G>A g.12360009G>A - - AFG3L2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 7i c.752+6C>T r.(?) p.(=) Parent #1 - benign g.12359920G>A g.12359921G>A - - AFG3L2_000005 - PubMed: Di Bella 2010 - rs8097342 Germline - 245/300 - - - DNA SEQ, HPLC - - - - PubMed: Di Bella 2010 - - - - - - - - - 245 Jacopo Celli
-/. - c.752+6C>T r.(=) p.(=) Unknown - benign g.12359920G>A g.12359921G>A AFG3L2(NM_006796.2):c.752+6C>T, AFG3L2(NM_006796.3):c.752+6C>T - AFG3L2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.752+6C>T r.(=) p.(=) Unknown - benign g.12359920G>A g.12359921G>A AFG3L2(NM_006796.2):c.752+6C>T, AFG3L2(NM_006796.3):c.752+6C>T - AFG3L2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.752+6C>T r.(=) p.(=) Unknown - benign g.12359920G>A g.12359921G>A AFG3L2(NM_006796.2):c.752+6C>T, AFG3L2(NM_006796.3):c.752+6C>T - AFG3L2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.752+6C>T r.(=) p.(=) Unknown - benign g.12359920G>A g.12359921G>A AFG3L2(NM_006796.2):c.752+6C>T, AFG3L2(NM_006796.3):c.752+6C>T - AFG3L2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 7i c.753-55T>C r.(?) p.(=) Parent #1 - likely benign g.12358997A>G g.12358998A>G - - AFG3L2_000006 - PubMed: Di Bella 2010 - rs7407640 Germline - - - - - DNA SEQ, HPLC - - - - PubMed: Di Bella 2010 - - - - - - - - - 1 Jacopo Celli
+/. - c.803T>C r.(?) p.(Leu268Pro) Parent #1 - pathogenic g.12358892A>G g.12358893A>G - - AFG3L2_000092 ACMG PS4, PM2, PM6, PP2, PP3, PP4, PubMed: Zheng 2024 - - Germline - - - - - DNA SEQ-NG - gene panel OPA F010P011II-1 PubMed: Zheng 2024 - F - China - - - - - 1 Johan den Dunnen
?/. - c.838C>T r.(?) p.(Arg280Trp) Unknown - VUS g.12358857G>A g.12358858G>A AFG3L2(NM_006796.2):c.838C>T (p.R280W) - AFG3L2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 8 c.874G>A r.(?) p.(Gly292Arg) Unknown - VUS g.12358821C>T g.12358822C>T - - AFG3L2_000066 - PubMed: Ganapathy 2019 - rs532179680 Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-2544 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+/. - c.964G>A r.(?) p.(Glu322Lys) Parent #1 - pathogenic g.12358731C>T g.12358732C>T - - AFG3L2_000091 ACMG PS2, PS4, PM2, PP2, PP3, PP4, PubMed: Zheng 2024 - - Germline - - - - - DNA SEQ-NG - gene panel OPA F015P016II-1 PubMed: Zheng 2024 - M - China - - - - - 1 Johan den Dunnen
?/. - c.1012G>A r.(?) p.(Ala338Thr) Unknown ACMG VUS g.12358683C>T g.12358684C>T - - AFG3L2_000077 ACMG PM2 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? OAK-802 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+/. - c.1026+1G>A r.spl? p.? Unknown - pathogenic g.12358668C>T g.12358669C>T AFG3L2(NM_006796.2):c.1026+1G>A - AFG3L2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 8i c.1026+8G>A r.(?) p.(=) Parent #1 - benign g.12358661C>T g.12358662C>T - - AFG3L2_000007 - PubMed: Di Bella 2010 - rs8091858 Germline - 18/300 - - - DNA SEQ, HPLC - - - - PubMed: Di Bella 2010 - - - - - - - - - 18 Jacopo Celli
-/. - c.1026+8G>A r.(=) p.(=) Unknown - benign g.12358661C>T g.12358662C>T AFG3L2(NM_006796.2):c.1026+8G>A - AFG3L2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1026+8G>A r.(=) p.(=) Unknown - benign g.12358661C>T g.12358662C>T AFG3L2(NM_006796.2):c.1026+8G>A - AFG3L2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1026+8G>A r.(=) p.(=) Unknown - benign g.12358661C>T g.12358662C>T AFG3L2(NM_006796.2):c.1026+8G>A - AFG3L2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1026+8G>A r.(=) p.(=) Parent #1 - likely benign g.12358661C>T g.12358662C>T - - AFG3L2_000007 37 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs8091858 Germline - 37/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 37 Mohammed Faruq
+/. - c.1037T>C r.(?) p.(Leu346Pro) Parent #1 - pathogenic g.12356820A>G g.12356821A>G - - AFG3L2_000090 ACMG PS4, PM2, PM6, PP2, PP3, PP4, PubMed: Zheng 2024 - - Germline - - - - - DNA SEQ-NG - gene panel OPA F009P010II-1 PubMed: Zheng 2024 - M - China - - - - - 1 Johan den Dunnen
?/. - c.1064C>T r.(?) p.(Thr355Met) Unknown ACMG VUS g.12356793G>A - - - AFG3L2_000064 ACMG grading PM2,PP2,PP3,PP5 - - - Germline - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
+/. - c.1064C>T r.(?) p.(Thr355Met) Parent #1 - pathogenic g.12356793G>A g.12356794G>A - - AFG3L2_000064 ACMG PS1, PS2, PS4, PM2, PP2, PP3, PP4, PubMed: Zheng 2024 - - Germline - - - - - DNA SEQ-NG - gene panel OPA F014P015II-1 PubMed: Zheng 2024 - F - China - - - - - 1 Johan den Dunnen
-?/. 9i c.1165-21T>A r.(?) p.(=) Parent #1 - likely benign g.12353178A>T g.12353179A>T - - AFG3L2_000008 - PubMed: Di Bella 2010 - rs9966470 Germline - - - - - DNA SEQ, HPLC - - - - PubMed: Di Bella 2010 - - - - - - - - - 1 Jacopo Celli
?/. - c.1181C>A r.(?) p.(Ala394Asp) Unknown - VUS g.12353141G>T - AFG3L2(NM_006796.3):c.1181C>A (p.(Ala394Asp)) - AFG3L2_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1277A>T r.(?) p.(Glu426Val) Unknown - likely pathogenic g.12353045T>A - - - AFG3L2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 10 c.1282G>T r.(?) p.(Glu428*) Unknown ACMG likely pathogenic (dominant) g.12353040C>A g.12353041C>A - - AFG3L2_000094 ACMG: PVS1, PM2_Sup - - - Germline ? - - - - DNA SEQ-NG-I Blood - SCA28 342754 - - M no Germany - - - - - 1 Andreas Laner
?/. - c.1284G>T r.(?) p.(Glu428Asp) Unknown - VUS g.12353038C>A - AFG3L2(NM_006796.3):c.1284G>T (p.E428D) - AFG3L2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.1295A>C r.(?) p.(Asn432Thr) Parent #1 - pathogenic g.12353027T>G g.12353028T>G 1296A>C - AFG3L2_000017 - PubMed: Di Bella 2010, OMIM:var0005 - - Germline - - - - - DNA SEQ, HPLC - - SCA28 - PubMed: Di Bella 2010 3-generation family, 8 affecteds (4F, 4M) - - - - - - - - 8 Jacopo Celli
+/. - c.1303dup r.(?) p.(Leu435Profs*8) Unknown - pathogenic g.12353019dup - AFG3L2(NM_006796.3):c.1303dupC (p.L435Pfs*8) - AFG3L2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 10i c.1319-59G>T r.(?) p.(=) Parent #1 - likely benign g.12351471C>A g.12351472C>A - - AFG3L2_000009 - PubMed: Di Bella 2010 - - Germline - 1/300 - - - DNA SEQ, HPLC - - - - PubMed: Di Bella 2010 - - - - - - - - - 1 Jacopo Celli
-?/. 10i c.1319-55T>G r.(?) p.(=) Parent #1 - likely benign g.12351467A>C g.12351468A>C - - AFG3L2_000010 - PubMed: Di Bella 2010 - - Germline - 3/300 - - - DNA SEQ, HPLC - - - - PubMed: Di Bella 2010 - - - - - - - - - 3 Jacopo Celli
-?/. - c.1319-10T>C r.(=) p.(=) Unknown - likely benign g.12351422A>G g.12351423A>G AFG3L2(NM_006796.2):c.1319-10T>C - AFG3L2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1319-7C>G r.(=) p.(=) Unknown - likely benign g.12351419G>C g.12351420G>C AFG3L2(NM_006796.2):c.1319-7C>G - AFG3L2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1353C>T r.(?) p.(Ala451=) Unknown - likely benign g.12351378G>A - AFG3L2(NM_006796.2):c.1353C>T (p.A451=) - AFG3L2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1378G>C r.(?) p.(Asp460His) Parent #1 - pathogenic g.12351353C>G g.12351354C>G - - AFG3L2_000089 ACMG PS4, PM2, PP1, PP2, PP3, PP4, PubMed: Zheng 2024 - - Germline - - - - - DNA SEQ-NG - gene panel OPA F012P013II-2 PubMed: Zheng 2024 - F - China - - - - - 1 Johan den Dunnen
-/. 11 c.1389A>G r.(?) p.(=) Parent #1 - benign g.12351342T>C g.12351343T>C 1389G>A, L463L - AFG3L2_000011 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Di Bella 2010 - rs11080572 Germline - 96/300 - - - DNA SEQ, HPLC - - - - PubMed: Di Bella 2010 - - - - - - - - - 96 Jacopo Celli
-/. - c.1389G>A r.(?) p.(Leu463=) Unknown - benign g.12351342C>T g.12351343C>T AFG3L2(NM_006796.2):c.1389G>A (p.L463=), AFG3L2(NM_006796.3):c.1389G>A (p.L463=) - AFG3L2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1389G>A r.(?) p.(Leu463=) Unknown - benign g.12351342C>T g.12351343C>T AFG3L2(NM_006796.2):c.1389G>A (p.L463=), AFG3L2(NM_006796.3):c.1389G>A (p.L463=) - AFG3L2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1389G>A r.(?) p.(Leu463=) Unknown - benign g.12351342C>T g.12351343C>T AFG3L2(NM_006796.2):c.1389G>A (p.L463=), AFG3L2(NM_006796.3):c.1389G>A (p.L463=) - AFG3L2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1402C>T r.(?) p.(Arg468Cys) Parent #1 - pathogenic g.12351329G>A g.12351330G>A - - AFG3L2_000088 ACMG PS1, PS4, PM2, PM6, PP2, PP3, PP4, PubMed: Zheng 2024 - - Germline - - - - - DNA SEQ-NG - gene panel OPA F016P017II-1 PubMed: Zheng 2024 - M - China - - - - - 1 Johan den Dunnen
+/. - c.1541C>T r.(?) p.(Pro514Leu) Parent #1 - pathogenic g.12351095G>A g.12351096G>A - - AFG3L2_000087 ACMG PS1, PS4, PM2, PM6, PP2, PP3, PP4, PubMed: Zheng 2024 - - Germline - - - - - DNA SEQ-NG - gene panel OPA F011P012II-1 PubMed: Zheng 2024 - M - China - - - - - 1 Johan den Dunnen
-?/. - c.1629A>G r.(?) p.(Lys543=) Unknown - likely benign g.12348306T>C g.12348307T>C AFG3L2(NM_006796.2):c.1629A>G (p.K543=) - AFG3L2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1650A>G r.(?) p.(Glu550=) Unknown - benign g.12348285T>C g.12348286T>C AFG3L2(NM_006796.2):c.1650A>G (p.E550=), AFG3L2(NM_006796.3):c.1650A>G (p.E550=) - AFG3L2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1650A>G r.(?) p.(Glu550=) Unknown - benign g.12348285T>C g.12348286T>C AFG3L2(NM_006796.2):c.1650A>G (p.E550=), AFG3L2(NM_006796.3):c.1650A>G (p.E550=) - AFG3L2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1650A>G r.(?) p.(Glu550=) Unknown - benign g.12348285T>C g.12348286T>C AFG3L2(NM_006796.2):c.1650A>G (p.E550=), AFG3L2(NM_006796.3):c.1650A>G (p.E550=) - AFG3L2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 13 c.1650G>A r.(?) p.(=) Parent #1 - benign g.12348285C>T g.12348286C>T E550E - AFG3L2_000012 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Di Bella 2010 - - Germline - 54/300 - - - DNA SEQ, HPLC - - - - PubMed: Di Bella 2010 - - - - - - - - - 54 Jacopo Celli
-/. 13i c.1664-39G>A r.(?) p.(=) Parent #1 - benign g.12344285C>T g.12344286C>T - - AFG3L2_000013 - PubMed: Di Bella 2010 - - Germline - 6/300 - - - DNA SEQ, HPLC - - - - PubMed: Di Bella 2010 - - - - - - - - - 6 Jacopo Celli
-?/. 13i c.1664-9T>C r.(?) p.(=) Parent #1 - likely benign g.12344255A>G g.12344256A>G - - AFG3L2_000014 - PubMed: Di Bella 2010 - - Germline - 1/300 - - - DNA SEQ, HPLC - - - - PubMed: Di Bella 2010 - - - - - - - - - 1 Jacopo Celli
-/. - c.1664-9T>C r.(=) p.(=) Unknown - benign g.12344255A>G g.12344256A>G AFG3L2(NM_006796.2):c.1664-9T>C, AFG3L2(NM_006796.3):c.1664-9T>C - AFG3L2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1664-9T>C r.(=) p.(=) Unknown - benign g.12344255A>G - AFG3L2(NM_006796.2):c.1664-9T>C, AFG3L2(NM_006796.3):c.1664-9T>C - AFG3L2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1664-9T>C r.(=) p.(=) Unknown - benign g.12344255A>G - AFG3L2(NM_006796.2):c.1664-9T>C, AFG3L2(NM_006796.3):c.1664-9T>C - AFG3L2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1706A>C r.(?) p.(Lys569Thr) Unknown - VUS g.12344204T>G - AFG3L2(NM_006796.2):c.1706A>C (p.(Lys569Thr)) - AFG3L2_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1761C>T r.(?) p.(His587=) Unknown - likely benign g.12344149G>A - AFG3L2(NM_006796.3):c.1761C>T (p.H587=) - AFG3L2_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1861C>G r.(?) p.(Leu621Val) Unknown - VUS g.12340319G>C g.12340320G>C AFG3L2(NM_006796.2):c.1861C>G (p.L621V) - AFG3L2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1861C>G r.(?) p.(Leu621Val) Unknown - VUS g.12340319G>C g.12340320G>C AFG3L2(NM_006796.2):c.1861C>G (p.L621V) - AFG3L2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1894C>G r.(?) p.(Arg632Gly) Unknown - VUS g.12340286G>C g.12340287G>C - - AFG3L2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1927dup r.(?) p.(Thr643AsnfsTer7) Unknown - likely benign g.12340253dup g.12340254dup AFG3L2(NM_006796.2):c.1927dupA (p.(Thr643AsnfsTer7)) - AFG3L2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1943A>G r.(?) p.(Asp648Gly) Unknown - VUS g.12340237T>C g.12340238T>C - - AFG3L2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1961C>T r.(?) p.(Thr654Ile) Paternal (confirmed) ACMG pathogenic g.12340219G>A g.12340220G>A - - AFG3L2_000070 - PubMed: Thomas 2022 - - Germline - - - - - DNA SEQ-NG - - ? Pat54 PubMed: Thomas 2022 patient, affected father and paternal grandmother - no France - - - - - 3 Johan den Dunnen
+/. 15i_16i c.1980+215_2176-481del r.(1981_2175del) p.(Ile661_Lys725del) Unknown - pathogenic (dominant) g.12330264_12339986del g.12330265_12339987del - - AFG3L2_000085 - PubMed: Wen 2023 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - retinal disease NEI_328 PubMed: Wen 2023 2-generation family, 1 affected, unaffected parents M - United States African-American - - - - 1 Johan den Dunnen
+/. - c.1981-1G>A r.(?) p.? Parent #1 - pathogenic g.12337535C>T g.12337536C>T - - AFG3L2_000086 ACMG PS4, PM2, PM6, PP3, PP4, PubMed: Zheng 2024 - - Germline - - - - - DNA SEQ-NG - gene panel OPA F013P014II-1 PubMed: Zheng 2024 - M - China - - - - - 1 Johan den Dunnen
+?/. - c.1996A>G r.(?) p.(Met666Val) Unknown - likely pathogenic g.12337519T>C g.12337520T>C - - AFG3L2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1996A>G r.(?) p.(Met666Val) Unknown - pathogenic g.12337519T>C g.12337520T>C - - AFG3L2_000039 - PubMed: Salinas 2020 RCV000023376.4 - Unknown - - - - - DNA SEQ-NG - WES ? Pat81 PubMed: Salinas 2020 patient M - - - - - - - 1 Johan den Dunnen
?/. - c.1998G>A r.(?) p.(Met666Ile) Unknown - VUS g.12337517C>T g.12337518C>T - - AFG3L2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 16 c.2021_2022delinsTA r.(?) p.(Ser674Leu) Parent #1 - pathogenic g.12337493_12337494delinsTA g.12337494_12337495delinsTA 2021_2022CC>TA - AFG3L2_000018 - PubMed: Di Bella 2010, OMIM:var0002 - - Germline - - - - - DNA SEQ, HPLC - - SCA28 - PubMed: Di Bella 2010 3-generation family, 2 affecteds (2M) - - - - - - - - 2 Jacopo Celli
+?/. - c.2062C>T r.(?) p.(Pro688Ser) Unknown - likely pathogenic g.12337453G>A g.12337454G>A - - AFG3L2_000062 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - (Germany) - - - - - 1 IMGAG
+?/. - c.2062C>T r.(?) p.(Pro688Ser) Unknown - likely pathogenic g.12337453G>A g.12337454G>A - - AFG3L2_000062 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - (Germany) - - - - - 1 IMGAG
-/. 16 c.2071G>A r.(?) p.(Glu691Lys) Paternal (confirmed) - benign g.12337444C>T g.12337445C>T - - AFG3L2_000016 - PubMed: Di Bella 2010, OMIM:var0001 - - Germline - - - - - DNA SEQ, HPLC - - SCA28 - PubMed: Cagnoli 2006 4-generation family, 14 affecteds (6F, 8M) F - - - - - - - 14 Jacopo Celli
+/. - c.2071G>A r.(?) p.(Glu691Lys) Unknown - pathogenic g.12337444C>T g.12337445C>T - - AFG3L2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 16 c.2081C>A r.(?) p.(Ala694Glu) Parent #1 - pathogenic g.12337434G>T g.12337435G>T A694E - AFG3L2_000019 - PubMed: Di Bella 2010, OMIM:var0003 - - Germline - - - - - DNA SEQ, HPLC - - SCA28 - PubMed: Di Bella 2010 2-generation family, 2 affecteds (2M) - - - - - - - - 2 Jacopo Celli
+/. 16 c.2105G>A r.(?) p.(Arg702Gln) Maternal (confirmed) - pathogenic g.12337410C>T g.12337411C>T R702Q - AFG3L2_000020 - PubMed: Di Bella 2010, OMIM:var0004 - - Germline - - - - - DNA SEQ, HPLC - - SCA28 - PubMed: Di Bella 2010 fully symptomatic index patient F - - - - - - - 1 Jacopo Celli
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