Full data view for gene ATP6V1F

Information The variants shown are described using the NM_004231.3 transcript reference sequence.

60 entries on 1 page. Showing entries 1 - 60.
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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.-7502895_*7068327del r.0? p.0? Unknown - pathogenic g.121000064_135573959del - - - IMPDH1_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.-4937C>G r.(?) p.(=) Unknown - benign g.128498022C>G g.128857968C>G - - ATP6V1F_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4901T>G r.(?) p.(=) Unknown - likely benign g.128498058T>G - - - ATP6V1F_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4884C>T r.(?) p.(=) Unknown - likely benign g.128498075C>T g.128858021C>T FLNC(NM_001458.4):c.7794C>T (p.S2598=) - FLNC_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4871C>A r.(?) p.(=) Unknown - VUS g.128498088C>A - FLNC(NM_001458.5):c.7807C>A (p.L2603I) - ATP6V1F_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4871C>T r.(?) p.(=) Unknown - VUS g.128498088C>T g.128858034C>T FLNC(NM_001458.4):c.7807C>T (p.L2603F) - ATP6V1F_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4866C>T r.(?) p.(=) Unknown - likely benign g.128498093C>T - FLNC(NM_001458.4):c.7812C>T (p.H2604=) - ATP6V1F_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4864A>G r.(?) p.(=) Unknown - VUS g.128498095A>G g.128858041A>G FLNC(NM_001458.4):c.7814A>G (p.E2605G) - FLNC_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4858C>A r.(?) p.(=) Unknown - VUS g.128498101C>A - FLNC(NM_001458.5):c.7820C>A (p.S2607Y) - ATP6V1F_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4838G>A r.(?) p.(=) Unknown - VUS g.128498121G>A - FLNC(NM_001458.5):c.7840G>A (p.V2614M) - ATP6V1F_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4825C>T r.(?) p.(=) Unknown - VUS g.128498134C>T g.128858080C>T FLNC(NM_001458.5):c.7853C>T (p.S2618F) - ATP6V1F_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4824C>T r.(?) p.(=) Unknown - likely benign g.128498135C>T - FLNC(NM_001458.4):c.7854C>T (p.S2618=) - ATP6V1F_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4816G>A r.(?) p.(=) Unknown - VUS g.128498143G>A g.128858089G>A FLNC(NM_001458.4):c.7862G>A (p.R2621Q), FLNC(NM_001458.5):c.7862G>A (p.R2621Q) - ATP6V1F_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4816G>A r.(?) p.(=) Unknown - likely benign g.128498143G>A g.128858089G>A FLNC(NM_001458.4):c.7862G>A (p.R2621Q), FLNC(NM_001458.5):c.7862G>A (p.R2621Q) - ATP6V1F_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4816G>A r.(?) p.(=) Unknown - benign g.128498143G>A g.128858089G>A FLNC(NM_001458.4):c.7862G>A (p.R2621Q), FLNC(NM_001458.5):c.7862G>A (p.R2621Q) - ATP6V1F_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4816G>A r.(?) p.(=) Unknown - likely benign g.128498143G>A - FLNC(NM_001458.4):c.7862G>A (p.R2621Q), FLNC(NM_001458.5):c.7862G>A (p.R2621Q) - ATP6V1F_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4803C>T r.(?) p.(=) Unknown - benign g.128498156C>T - FLNC(NM_001458.5):c.7875C>T (p.Y2625=) - ATP6V1F_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4769A>C r.(?) p.(=) Unknown - likely benign g.128498190A>C g.128858136A>C - - ATP6V1F_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4731C>T r.(?) p.(=) Unknown - likely benign g.128498228C>T g.128858174C>T FLNC(NM_001458.4):c.7947C>T (p.F2649=), FLNC(NM_001458.5):c.7947C>T (p.F2649=) - FLNC_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4731C>T r.(?) p.(=) Unknown - benign g.128498228C>T g.128858174C>T FLNC(NM_001458.4):c.7947C>T (p.F2649=), FLNC(NM_001458.5):c.7947C>T (p.F2649=) - FLNC_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4731C>T r.(?) p.(=) Unknown - likely benign g.128498228C>T g.128858174C>T FLNC(NM_001458.4):c.7947C>T (p.F2649=), FLNC(NM_001458.5):c.7947C>T (p.F2649=) - FLNC_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4731C>T r.(?) p.(=) Unknown - benign g.128498228C>T g.128858174C>T FLNC(NM_001458.4):c.7947C>T (p.F2649=), FLNC(NM_001458.5):c.7947C>T (p.F2649=) - FLNC_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4730G>A r.(?) p.(=) Unknown - VUS g.128498229G>A - FLNC(NM_001458.4):c.7948G>A (p.V2650M) - ATP6V1F_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4719_-4717del r.(?) p.(=) Unknown - VUS g.128498240_128498242del - FLNC(NM_001458.5):c.7959_7961delGAA (p.K2653del) - ATP6V1F_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4716C>T r.(?) p.(=) Unknown - likely benign g.128498243C>T - - - ATP6V1F_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4679C>T r.(?) p.(=) Unknown - likely benign g.128498280C>T g.128858226C>T FLNC(NM_001458.4):c.7990+9C>T, FLNC(NM_001458.5):c.7990+9C>T - ATP6V1F_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4679C>T r.(?) p.(=) Unknown - likely benign g.128498280C>T g.128858226C>T FLNC(NM_001458.4):c.7990+9C>T, FLNC(NM_001458.5):c.7990+9C>T - ATP6V1F_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4679C>T r.(?) p.(=) Unknown - benign g.128498280C>T g.128858226C>T FLNC(NM_001458.4):c.7990+9C>T, FLNC(NM_001458.5):c.7990+9C>T - ATP6V1F_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4679C>T r.(?) p.(=) Unknown - likely benign g.128498280C>T - FLNC(NM_001458.4):c.7990+9C>T, FLNC(NM_001458.5):c.7990+9C>T - ATP6V1F_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4678G>A r.(?) p.(=) Unknown - likely benign g.128498281G>A g.128858227G>A FLNC(NM_001458.5):c.7990+10G>A - ATP6V1F_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4678G>A r.(?) p.(=) Unknown - benign g.128498281G>A - FLNC(NM_001458.5):c.7990+10G>A - ATP6V1F_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4673del r.(?) p.(=) Unknown - likely benign g.128498286del g.128858232del FLNC(NM_001127487.1):c.7891+15del (p.(=)) - ATP6V1F_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4669G>T r.(?) p.(=) Unknown - benign g.128498290G>T - FLNC(NM_001458.5):c.7990+19G>T - ATP6V1F_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4661C>T r.(?) p.(=) Unknown - likely benign g.128498298C>T - - - ATP6V1F_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4588C>T r.(?) p.(=) Unknown - benign g.128498371C>T g.128858317C>T FLNC(NM_001127487.1):c.7892-19C>T (p.(=)), FLNC(NM_001458.4):c.7991-19C>T, FLNC(NM_001458.5):c.7991-19C>T - FLNC_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4588C>T r.(?) p.(=) Unknown - likely benign g.128498371C>T g.128858317C>T FLNC(NM_001127487.1):c.7892-19C>T (p.(=)), FLNC(NM_001458.4):c.7991-19C>T, FLNC(NM_001458.5):c.7991-19C>T - FLNC_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4588C>T r.(?) p.(=) Unknown - likely benign g.128498371C>T - FLNC(NM_001127487.1):c.7892-19C>T (p.(=)), FLNC(NM_001458.4):c.7991-19C>T, FLNC(NM_001458.5):c.7991-19C>T - FLNC_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4588C>T r.(?) p.(=) Unknown - likely benign g.128498371C>T - FLNC(NM_001127487.1):c.7892-19C>T (p.(=)), FLNC(NM_001458.4):c.7991-19C>T, FLNC(NM_001458.5):c.7991-19C>T - FLNC_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4557T>C r.(?) p.(=) Unknown - likely benign g.128498402T>C - FLNC(NM_001458.4):c.8003T>C (p.M2668T), FLNC(NM_001458.5):c.8003T>C (p.M2668T) - FLNC_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4557T>C r.(?) p.(=) Unknown - benign g.128498402T>C - FLNC(NM_001458.4):c.8003T>C (p.M2668T), FLNC(NM_001458.5):c.8003T>C (p.M2668T) - FLNC_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4511C>T r.(?) p.(=) Unknown - likely benign g.128498448C>T - FLNC(NM_001458.4):c.8049C>T (p.Y2683=) - ATP6V1F_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4510G>A r.(?) p.(=) Unknown - VUS g.128498449G>A - FLNC(NM_001458.4):c.8050G>A (p.(Val2684Met)) - ATP6V1F_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4510G>A r.(?) p.(=) Unknown - VUS g.128498449G>A - FLNC(NM_001458.4):c.8050G>A (p.(Val2684Met)) - ATP6V1F_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4442C>T r.(?) p.(=) Unknown - benign g.128498517C>T g.128858463C>T FLNC(NM_001127487.1):c.8019C>T (p.(Leu2673=)), FLNC(NM_001458.5):c.8118C>T (p.L2706=) - FLNC_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4442C>T r.(?) p.(=) Unknown - benign g.128498517C>T g.128858463C>T FLNC(NM_001127487.1):c.8019C>T (p.(Leu2673=)), FLNC(NM_001458.5):c.8118C>T (p.L2706=) - FLNC_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4442C>T r.(?) p.(=) Unknown - likely benign g.128498517C>T - FLNC(NM_001127487.1):c.8019C>T (p.(Leu2673=)), FLNC(NM_001458.5):c.8118C>T (p.L2706=) - FLNC_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4439T>C r.(?) p.(=) Unknown - benign g.128498520T>C g.128858466T>C FLNC(NM_001127487.1):c.8022T>C (p.(Ile2674=)), FLNC(NM_001458.5):c.8121T>C (p.I2707=) - ATP6V1F_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4439T>C r.(?) p.(=) Unknown - benign g.128498520T>C g.128858466T>C FLNC(NM_001127487.1):c.8022T>C (p.(Ile2674=)), FLNC(NM_001458.5):c.8121T>C (p.I2707=) - ATP6V1F_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4439T>C r.(?) p.(=) Unknown - likely benign g.128498520T>C - FLNC(NM_001127487.1):c.8022T>C (p.(Ile2674=)), FLNC(NM_001458.5):c.8121T>C (p.I2707=) - ATP6V1F_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4424C>T r.(?) p.(=) Unknown - benign g.128498535C>T g.128858481C>T FLNC(NM_001127487.1):c.8037C>T (p.(Asp2679=)), FLNC(NM_001458.5):c.8136C>T (p.D2712=) - ATP6V1F_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4424C>T r.(?) p.(=) Unknown - likely benign g.128498535C>T g.128858481C>T FLNC(NM_001127487.1):c.8037C>T (p.(Asp2679=)), FLNC(NM_001458.5):c.8136C>T (p.D2712=) - ATP6V1F_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4390G>T r.(?) p.(=) Unknown - likely benign g.128498569G>T g.128858515G>T FLNC(NM_001458.5):c.8170G>T (p.V2724F) - FLNC_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4390G>T r.(?) p.(=) Unknown - VUS g.128498569G>T - FLNC(NM_001458.5):c.8170G>T (p.V2724F) - FLNC_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4387C>A r.(?) p.(=) Unknown - VUS g.128498572C>A - FLNC(NM_001458.5):c.8173C>A (p.P2725T) - ATP6V1F_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4387C>A r.(?) p.(=) Unknown - VUS g.128498572C>A - FLNC(NM_001458.5):c.8173C>A (p.P2725T) - ATP6V1F_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4381A>G r.(?) p.(=) Unknown - benign g.128498578A>G g.128858524A>G FLNC(NM_001458.5):c.*1A>G - FLNC_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4381A>G r.(?) p.(=) Unknown - benign g.128498578A>G g.128858524A>G FLNC(NM_001458.5):c.*1A>G - FLNC_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4307_-4306dup r.(?) p.(=) Unknown - likely benign g.128498652_128498653dup g.128858598_128858599dup FLNC(NM_001458.4):c.*74_*75dupAC - ATP6V1F_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4265A>C r.(?) p.(=) Unknown - benign g.128498694A>C g.128858640A>C - - FLNC_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4262_-4261insT r.(?) p.(=) Unknown - benign g.128498697_128498698insT g.128858643_128858644insT - - FLNC_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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