Full data view for gene NDUFS7

Information The variants shown are described using the NM_024407.4 transcript reference sequence.

57 entries on 1 page. Showing entries 1 - 57.
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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.68C>T r.(?) p.(Pro23Leu) Unknown - benign g.1388538C>T g.1388539C>T NDUFS7(NM_024407.5):c.68C>T (p.P23L) - NDUFS7_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.105C>A r.(?) p.(Ala35=) Unknown - likely benign g.1388575C>A - NDUFS7(NM_001363602.1):c.105C>A (p.A35=) - NDUFS7_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.122+10G>A r.(=) p.(=) Unknown - likely benign g.1388602G>A - NDUFS7(NM_024407.5):c.122+10G>A - NDUFS7_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.153C>T r.(?) p.(Ala51=) Unknown - likely benign g.1388862C>T g.1388863C>T NDUFS7(NM_024407.4):c.153C>T (p.A51=), NDUFS7(NM_024407.5):c.153C>T (p.A51=) - NDUFS7_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.153C>T r.(?) p.(Ala51=) Unknown - likely benign g.1388862C>T g.1388863C>T NDUFS7(NM_024407.4):c.153C>T (p.A51=), NDUFS7(NM_024407.5):c.153C>T (p.A51=) - NDUFS7_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.158C>T r.(?) p.(Ala53Val) Unknown - likely benign g.1388867C>T - NDUFS7(NM_001363602.1):c.158C>T (p.A53V) - NDUFS7_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.168C>T r.(?) p.(Pro56=) Unknown - likely benign g.1388877C>T g.1388878C>T NDUFS7(NM_024407.5):c.168C>T (p.P56=) - NDUFS7_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.228+127G>T r.(=) p.(=) Unknown - benign g.1389064G>T g.1389065G>T NDUFS7(NM_024407.5):c.228+127G>T - NDUFS7_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.228+389_228+390del r.(=) p.(=) Unknown - benign g.1389326_1389327del g.1389327_1389328del NDUFS7(NM_024407.5):c.228+389_228+390delTC - NDUFS7_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.228+580C>A r.(=) p.(=) Unknown - benign g.1389517C>A g.1389518C>A NDUFS7(NM_024407.5):c.228+580C>A - NDUFS7_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.229-3C>T r.spl? p.? Unknown - VUS g.1390867C>T g.1390868C>T NDUFS7(NM_024407.4):c.229-3C>T - NDUFS7_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.322G>A r.(?) p.(Val108Met) Unknown - VUS g.1390963G>A g.1390964G>A NDUFS7(NM_024407.5):c.322G>A (p.V108M) - NDUFS7_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.339_348del r.(?) p.(Arg115ThrfsTer3) Unknown - likely pathogenic g.1390980_1390989del g.1390981_1390990del NDUFS7(NM_024407.5):c.339_348delCCCGCGCCAG (p.R115Tfs*3) - NDUFS7_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.364G>A r.(?) p.(Val122Met) Unknown - likely pathogenic g.1391005G>A g.1391006G>A NDUFS7(NM_001363602.2):c.364G>A (p.V122M), NDUFS7(NM_024407.5):c.364G>A (p.(Val122Met), p.V122M) - NDUFS7_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.364G>A r.(?) p.(Val122Met) Unknown - pathogenic g.1391005G>A g.1391006G>A NDUFS7(NM_001363602.2):c.364G>A (p.V122M), NDUFS7(NM_024407.5):c.364G>A (p.(Val122Met), p.V122M) - NDUFS7_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.364G>A r.(?) p.(Val122Met) Unknown - pathogenic g.1391005G>A g.1391006G>A NDUFS7(NM_001363602.2):c.364G>A (p.V122M), NDUFS7(NM_024407.5):c.364G>A (p.(Val122Met), p.V122M) - NDUFS7_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.364G>A r.(?) p.(Val122Met) Unknown - pathogenic g.1391005G>A - NDUFS7(NM_001363602.2):c.364G>A (p.V122M), NDUFS7(NM_024407.5):c.364G>A (p.(Val122Met), p.V122M) - NDUFS7_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.364G>A r.(?) p.(Val122Met) Unknown - likely pathogenic g.1391005G>A - NDUFS7(NM_001363602.2):c.364G>A (p.V122M), NDUFS7(NM_024407.5):c.364G>A (p.(Val122Met), p.V122M) - NDUFS7_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.376C>T r.(?) p.(Leu126Phe) Parent #1 - pathogenic g.1391017C>T g.1391018C>T - - NDUFS7_000025 moderate genotype/phenotype correlation PubMed: Pronicka 2016 - - Germline/De novo (untested) - 1/113 cases - - - DNA SEQ, SEQ-NG - WES ? Pat75 PubMed: Pronicka 2016 2-generation family, 2 affected brothers with similar symptoms M - Poland - - - - - 2 Johan den Dunnen
-?/. - c.399G>A r.(?) p.(Ala133=) Unknown - likely benign g.1391040G>A g.1391041G>A NDUFS7(NM_024407.5):c.399G>A (p.A133=) - NDUFS7_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.408+4G>A r.spl? p.? Unknown - likely benign g.1391053G>A g.1391054G>A NDUFS7(NM_024407.5):c.408+4G>A - NDUFS7_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.425C>T r.(?) p.(Pro142Leu) Unknown - VUS g.1391134C>T - NDUFS7(NM_024407.4):c.425C>T (p.P142L) - NDUFS7_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.449T>C r.(?) p.(Met150Thr) Unknown - likely pathogenic g.1391158T>C - - - NDUFS7_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.504G>C r.(?) p.(Arg168Ser) Parent #2 - pathogenic g.1393289G>C g.1393290G>C - - NDUFS7_000026 - PubMed: Pronicka 2016 - - Germline - 1/113 cases - - - DNA SEQ, SEQ-NG - WES ? Pat75 PubMed: Pronicka 2016 2-generation family, 2 affected brothers with similar symptoms M - Poland - - - - - 2 Johan den Dunnen
?/. - c.520G>A r.(?) p.(Val174Met) Unknown - VUS g.1393305G>A - NDUFS7(NM_024407.4):c.520G>A (p.(Val174Met)) - NDUFS7_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*16C>T r.(=) p.(=) Unknown - VUS g.1395503C>T g.1395504C>T NDUFS7(NM_024407.5):c.*16C>T - NDUFS7_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*18_*20dup r.(=) p.(=) Unknown - benign g.1395505_1395507dup g.1395506_1395508dup NDUFS7(NM_024407.4):c.642_*1insCGC, NDUFS7(NM_024407.5):c.642_*1insCGC - NDUFS7_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*18_*20dup r.(=) p.(=) Unknown - benign g.1395505_1395507dup g.1395506_1395508dup NDUFS7(NM_024407.4):c.642_*1insCGC, NDUFS7(NM_024407.5):c.642_*1insCGC - NDUFS7_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1875C>G r.(=) p.(=) Unknown - likely benign g.1397362C>G - GAMT(NM_000156.5):c.707G>C (p.G236A) - NDUFS7_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1891G>A r.(=) p.(=) Unknown - VUS g.1397378G>A - GAMT(NM_000156.6):c.691C>T (p.(Pro231Ser)) - NDUFS7_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1918_*1920del r.(=) p.(=) Unknown - VUS g.1397405_1397407del - GAMT(NM_000156.6):c.662_664del (p.(Arg221_Tyr222delinsHis)) - NDUFS7_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1940C>T r.(=) p.(=) Unknown - likely benign g.1397427C>T g.1397428C>T GAMT(NM_000156.5):c.642G>A (p.L214=), GAMT(NM_000156.6):c.642G>A (p.L214=) - NDUFS7_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1940C>T r.(=) p.(=) Unknown - likely benign g.1397427C>T - GAMT(NM_000156.5):c.642G>A (p.L214=), GAMT(NM_000156.6):c.642G>A (p.L214=) - NDUFS7_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1956G>A r.(=) p.(=) Unknown - benign g.1397443G>A g.1397444G>A GAMT(NM_000156.6):c.626C>T (p.T209M) - GAMT_012061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2001A>G r.(=) p.(=) Unknown - likely benign g.1397488A>G g.1397489A>G GAMT(NM_000156.6):c.581T>C (p.V194A) - NDUFS7_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2017C>T r.(=) p.(=) Unknown - benign g.1397504C>T g.1397505C>T GAMT(NM_000156.6):c.571-6G>A - GAMT_012021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3187C>G r.(=) p.(=) Unknown - likely benign g.1398674C>G g.1398675C>G GAMT(NM_138924.3):c.*1G>C - NDUFS7_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*3263C>T r.(=) p.(=) Unknown - benign g.1398750C>T g.1398751C>T GAMT(NM_138924.3):c.735G>A (p.A245=) - NDUFS7_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*3263C>T r.(=) p.(=) Unknown - benign g.1398750C>T g.1398751C>T GAMT(NM_138924.3):c.735G>A (p.A245=) - NDUFS7_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3275G>T r.(=) p.(=) Unknown - likely benign g.1398762G>T g.1398763G>T GAMT(NM_138924.2):c.723C>A (p.V241=) - NDUFS7_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3445T>G r.(=) p.(=) Unknown - VUS g.1398932T>G - GAMT(NM_138924.2):c.553A>C (p.I185L) - NDUFS7_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3489T>C r.(=) p.(=) Unknown - VUS g.1398976T>C g.1398977T>C GAMT(NM_000156.6):c.509A>G (p.(Asn170Ser)), GAMT(NM_138924.2):c.509A>G (p.N170S) - GAMT_012063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3489T>C r.(=) p.(=) Unknown - VUS g.1398976T>C - GAMT(NM_000156.6):c.509A>G (p.(Asn170Ser)), GAMT(NM_138924.2):c.509A>G (p.N170S) - GAMT_012063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*3493A>G r.(=) p.(=) Unknown - pathogenic g.1398980A>G - - - GAMT_012053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*3512dup r.(?) p.(=) Unknown - pathogenic g.1398999dup - GAMT(NM_138924.3):c.491dupG (p.V165Rfs*26) - GAMT_012020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*3539C>T r.(=) p.(=) Unknown - pathogenic g.1399026C>T - - - NDUFS7_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*3713C>G r.(=) p.(=) Unknown - benign g.1399200C>G g.1399201C>G GAMT(NM_000156.6):c.392-6G>C - GAMT_012064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*3714G>A r.(=) p.(=) Unknown - benign g.1399201G>A g.1399202G>A GAMT(NM_138924.3):c.392-7C>T - NDUFS7_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3752G>A r.(=) p.(=) Unknown - likely benign g.1399239G>A g.1399240G>A GAMT(NM_000156.6):c.392-45C>T - GAMT_012065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4079C>T r.(=) p.(=) Unknown - benign g.1399566C>T g.1399567C>T GAMT(NM_138924.3):c.348G>A (p.L116=) - NDUFS7_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4305C>T r.(=) p.(=) Unknown - VUS g.1399792C>T g.1399793C>T GAMT(NM_138924.2):c.327G>A (p.K109=), GAMT(NM_138924.3):c.327G>A (p.K109=) - GAMT_012004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*4305C>T r.(=) p.(=) Unknown - pathogenic g.1399792C>T g.1399793C>T GAMT(NM_138924.2):c.327G>A (p.K109=), GAMT(NM_138924.3):c.327G>A (p.K109=) - GAMT_012004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4353G>A r.(=) p.(=) Unknown - likely benign g.1399840G>A g.1399841G>A GAMT(NM_000156.6):c.279C>T (p.D93=), GAMT(NM_138924.2):c.279C>T (p.D93=) - NDUFS7_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4353G>A r.(=) p.(=) Unknown - likely benign g.1399840G>A - GAMT(NM_000156.6):c.279C>T (p.D93=), GAMT(NM_138924.2):c.279C>T (p.D93=) - NDUFS7_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4392C>G r.(=) p.(=) Unknown - likely benign g.1399879C>G g.1399880C>G GAMT(NM_000156.5):c.240G>C (p.(Glu80Asp)) - GAMT_012067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4405G>A r.(=) p.(=) Unknown - VUS g.1399892G>A - GAMT(NM_000156.6):c.227C>T (p.(Ser76Leu)) - NDUFS7_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4468G>A r.(=) p.(=) Unknown - likely benign g.1399955G>A g.1399956G>A GAMT(NM_000156.6):c.182-18C>T - NDUFS7_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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