Full data view for gene SF1

Information The variants shown are described using the NM_004630.3 transcript reference sequence.

35 entries on 1 page. Showing entries 1 - 35.
Legend   How to query  

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.31+17del r.spl? p.? Unknown ACMG VUS g.64545823del g.64778351del NM_001178030.2:c.48del (Leu18Cysfs*42) - SF1_000016 ACMG PM2, BP4 PubMed: Bou-Rouphael 2025, Journal: Bou-Rouphael 2025 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD Pat1 PubMed: Bou-Rouphael 2025, Journal: Bou-Rouphael 2025 2-generation family, 1 affected, unaffected parents F - - - - - - - 1 Johan den Dunnen
?/. - c.31+17dup r.(=) p.(=) Unknown - VUS g.64545823dup - SF1(NM_001178030.1):c.48dupC (p.(Gly17fs)) - SF1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.31+274C>T r.(=) p.(=) Unknown - VUS g.64545560G>A - SF1(NM_001178030.1):c.305C>T (p.P102L) - SF1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.31+344C>T r.(=) p.(=) Unknown - likely benign g.64545490G>A g.64778018G>A SF1(NM_001178030.1):c.375C>T (p.D125=) - SF1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.64dup r.(?) p.(Trp22LeufsTer43) Unknown ACMG likely pathogenic (dominant) g.64544066dup g.64776594dup - - SF1_000031 ACMG PVS1, PM2 PubMed: Bou-Rouphael 2025, Journal: Bou-Rouphael 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat2 PubMed: Bou-Rouphael 2025, Journal: Bou-Rouphael 2025 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.221del r.(?) p.(Pro74LeufsTer63) Unknown ACMG pathogenic (dominant) g.64540922del g.64773450del - - SF1_000030 ACMG PVS1, PM2, PP5 PubMed: Bou-Rouphael 2025, Journal: Bou-Rouphael 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat3 PubMed: Bou-Rouphael 2025, Journal: Bou-Rouphael 2025 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.278G>A r.(?) p.(Arg93Gln) Unknown ACMG likely pathogenic (dominant) g.64537839C>T g.64770367C>T - - SF1_000029 ACMG PP3, PM2, PP2 PubMed: Bou-Rouphael 2025, Journal: Bou-Rouphael 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat4 PubMed: Bou-Rouphael 2025, Journal: Bou-Rouphael 2025 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
?/. - c.290G>A r.(?) p.(Arg97Gln) Unknown - VUS g.64537827C>T - SF1(NM_201995.3):c.290G>A (p.R97Q) - SF1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.298del r.(?) p.(Arg100AlafsTer37) Unknown ACMG likely pathogenic (dominant) g.64537820del g.64770348del - - SF1_000028 ACMG PVS1, PM2 PubMed: Bou-Rouphael 2025, Journal: Bou-Rouphael 2025 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD Pat5 PubMed: Bou-Rouphael 2025, Journal: Bou-Rouphael 2025 2-generation family, 1 affected, unaffected parents M - - - - - - - 1 Johan den Dunnen
?/. - c.362C>T r.(?) p.(Pro121Leu) Unknown ACMG VUS g.64537755G>A g.64770283G>A - - SF1_000027 ACMGPM2, PP2, PP3 PubMed: Bou-Rouphael 2025, Journal: Bou-Rouphael 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat6 PubMed: Bou-Rouphael 2025, Journal: Bou-Rouphael 2025 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.532C>T r.(?) p.(Arg178Trp) Unknown ACMG likely pathogenic (dominant) g.64537029G>A g.64769557G>A - - SF1_000026 ACMG PP3, PM2, PP2 PubMed: Bou-Rouphael 2025, Journal: Bou-Rouphael 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat7 PubMed: Bou-Rouphael 2025, Journal: Bou-Rouphael 2025 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.552del r.(?) p.(Glu185LysfsTer38) Unknown ACMG likely pathogenic (dominant) g.64537011del g.64769539del - - SF1_000025 ACMG PVS1, PM2 PubMed: Bou-Rouphael 2025, Journal: Bou-Rouphael 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat8 PubMed: Bou-Rouphael 2025, Journal: Bou-Rouphael 2025 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.611A>G r.(?) p.(His204Arg) Unknown ACMG likely pathogenic (dominant) g.64536950T>C g.64769478T>C - - SF1_000024 ACMG PP3, PM2, PP2 PubMed: Bou-Rouphael 2025, Journal: Bou-Rouphael 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat9 PubMed: Bou-Rouphael 2025, Journal: Bou-Rouphael 2025 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.844T>C r.(?) p.(Cys282Arg) Unknown ACMG likely pathogenic (dominant) g.64536537A>G g.64769065A>G - - SF1_000023 ACMG PP3, PM2, PP2 PubMed: Bou-Rouphael 2025, Journal: Bou-Rouphael 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat10 PubMed: Bou-Rouphael 2025, Journal: Bou-Rouphael 2025 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
?/. 9 c.898C>T r.(?) p.(Pro300Ser) Unknown - VUS g.64535748G>A - c.898C>T - SF1_000008 - PubMed: Borràs 2013 - - Germline no Novel - - - DNA SEQ-NG, SEQ blood - retinal disease RP-95 PubMed: Borràs 2013 - - - Spain Spanish - - - - 1 LOVD
+?/. - c.959T>C r.(?) p.(Leu320Pro) Unknown ACMG likely pathogenic (dominant) g.64535687A>G g.64768215A>G - - SF1_000022 ACMG PP3, PM2, PP2 PubMed: Bou-Rouphael 2025, Journal: Bou-Rouphael 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat11 PubMed: Bou-Rouphael 2025, Journal: Bou-Rouphael 2025 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
?/. - c.1262C>A r.(?) p.(Pro421Gln) Unknown ACMG VUS g.64535123G>T g.64767651G>T - - SF1_000021 ACMG PM2, PP2, BP4 PubMed: Bou-Rouphael 2025, Journal: Bou-Rouphael 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat12 PubMed: Bou-Rouphael 2025, Journal: Bou-Rouphael 2025 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
?/. - c.1412C>T r.(?) p.(Pro471Leu) Unknown - VUS g.64534542G>A g.64767070G>A SF1(NM_004630.4):c.1412C>T (p.P471L) - SF1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1449_1451del r.(?) p.(Pro485del) Unknown - likely benign g.64534518_64534520del - SF1(NM_004630.3):c.1449_1451delGCC (p.(Pro484del)), SF1(NM_201995.3):c.1449_1451delGCC (p.P485del) - SF1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1449_1451del r.(?) p.(Pro485del) Unknown - VUS g.64534518_64534520del - SF1(NM_004630.3):c.1449_1451delGCC (p.(Pro484del)), SF1(NM_201995.3):c.1449_1451delGCC (p.P485del) - SF1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1523dup r.(?) p.(Pro509AlafsTer103) Unknown ACMG likely pathogenic (dominant) g.64534432dup g.64766960dup - - SF1_000020 ACMG PVS1, PM2 PubMed: Bou-Rouphael 2025, Journal: Bou-Rouphael 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat13 PubMed: Bou-Rouphael 2025, Journal: Bou-Rouphael 2025 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
?/. - c.1536G>A r.(?) p.(=) Unknown - VUS g.64534418C>T - SF1(NM_201997.2):c.1540G>A (p.(Ala514Thr)) - SF1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1590G>A r.(?) p.(Thr530=) Unknown - VUS g.64533620C>T g.64766148C>T SF1(NM_001178030.1):c.1958-630G>A (p.?) - SF1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1639C>T r.(?) p.(Gln547Ter) Unknown ACMG likely pathogenic (dominant) g.64533571G>A g.64766099G>A - - SF1_000019 ACMG PVS1, PM2 PubMed: Bou-Rouphael 2025, Journal: Bou-Rouphael 2025 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD Pat14 PubMed: Bou-Rouphael 2025, Journal: Bou-Rouphael 2025 2-generation family, 1 affected, unaffected non-carrier mother M - - - - - - - 1 Johan den Dunnen
?/. - c.1764_1767delinsT r.(?) p.(Pro590del) Unknown ACMG VUS g.64533443_64533446delinsA g.64765971_64765974delinsA - - SF1_000018 ACMG PM4, PM2 PubMed: Bou-Rouphael 2025, Journal: Bou-Rouphael 2025 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat15 PubMed: Bou-Rouphael 2025, Journal: Bou-Rouphael 2025 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. 13 c.1764_1776del r.(?) p.(Pro590Alafs*2) Maternal (confirmed) ACMG likely pathogenic g.64533437_64533449del g.64765965_64765977del - - SF1_000015 inherited from mildly affected mother, variant present in mildly affected sister https://ern-ithaca.eu/our-research-activities/calls-for-collaboration/sf1-variants-in-neurodevelopmental-disorders/ ClinVar-4083510 - Germline yes - - - - DNA SEQ-NG-I peripheral blood WES NDD - - - F - - (not applicable) white - - - - 1 Marketa Wayhelova
-?/. - c.1779C>T r.(?) p.(Ala593=) Unknown - likely benign g.64533431G>A g.64765959G>A SF1(NM_004630.3):c.1779C>T (p.A593=) - SF1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*415G>A r.(=) p.(=) Unknown - likely benign g.64532875C>T - SF1(NM_201995.2):c.1903G>A (p.G635S) - SF1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*5920A>G r.(=) p.(=) Unknown - pathogenic g.64527370T>C g.64759898T>C PYGM(NM_001164716.1):c.1A>G (p.M1?), PYGM(NM_005609.4):c.1A>G (p.M1?) - PYGM_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*5920A>G r.(=) p.(=) Unknown - pathogenic g.64527370T>C - PYGM(NM_001164716.1):c.1A>G (p.M1?), PYGM(NM_005609.4):c.1A>G (p.M1?) - PYGM_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*5920A>G r.(=) p.(=) Unknown - likely pathogenic g.64527370T>C - PYGM(NM_001164716.1):c.1A>G (p.M1?), PYGM(NM_005609.4):c.1A>G (p.M1?) - PYGM_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*6067C>T r.(=) p.(=) Unknown - pathogenic g.64527223G>A g.64759751G>A PYGM(NM_001164716.1):c.148C>T (p.R50*), PYGM(NM_005609.4):c.148C>T (p.R50*) - PYGM_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*6067C>T r.(=) p.(=) Unknown - pathogenic g.64527223G>A - PYGM(NM_001164716.1):c.148C>T (p.R50*), PYGM(NM_005609.4):c.148C>T (p.R50*) - PYGM_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*6067C>T r.(=) p.(=) Unknown - pathogenic g.64527223G>A - PYGM(NM_001164716.1):c.148C>T (p.R50*), PYGM(NM_005609.4):c.148C>T (p.R50*) - PYGM_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*6079T>G r.(=) p.(=) Unknown - VUS g.64527211A>C - PYGM(NM_005609.4):c.160T>G (p.(Phe54Val)) - SF1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.