Full data view for gene FSIP2

Information The variants shown are described using the NM_173651.2 transcript reference sequence.

53 entries on 1 page. Showing entries 1 - 53.
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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.925C>T r.(?) p.(Arg309Cys) Unknown - VUS g.186611436C>T g.185746709C>T FSIP2(NM_173651.3):c.658C>T (p.R220C) - FSIP2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1177del r.(?) p.(Gln393Lysfs*13) Both (homozygous) - pathogenic (recessive) g.186618488del g.185753761del 910delC - FSIP2_000016 - PubMed: Martinez 2018 - - Germline - 2/167 cases MMAF - - - DNA SEQ, SEQ-NG - WES SPGF 30137358-PatFSIP-2 PubMed: Martinez 2018 - M - - Tunisia - - - - 1 Johan den Dunnen
+/. - c.1177del r.(?) p.(Gln393Lysfs*13) Both (homozygous) - pathogenic (recessive) g.186618488del g.185753761del 910delC - FSIP2_000016 - PubMed: Coutton 2019, Journal: Coutton 2019 - - Germline - 2/167 cases MMAF - - - DNA SEQ, SEQ-NG - WES SPGF 30686508-PatFSIP-5 PubMed: Coutton 2019, Journal: Coutton 2019 - M - - Tunisia - - - - 1 Johan den Dunnen
?/. - c.1182A>C r.(?) p.(Lys394Asn) Unknown - VUS g.186618493A>C - FSIP2(NM_173651.3):c.915A>C (p.K305N) - FSIP2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1336G>C r.(?) p.(Glu446Gln) Unknown - likely benign g.186620996G>C - FSIP2(NM_173651.4):c.1069G>C (p.(Glu357Gln)) - FSIP2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1649C>A r.(?) p.(Thr550Asn) Unknown - likely benign g.186629263C>A g.185764536C>A FSIP2(NM_173651.3):c.1382C>A (p.T461N) - FSIP2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1874_1883delinsTGT r.(?) p.(Lys625Metfs*2) Both (homozygous) - pathogenic (recessive) g.186653470_186653479delinsTGT g.185788743_185788752delinsTGT 1606_1607insTGT;1607_1616delAAAGATTGCA - FSIP2_000015 - PubMed: Martinez 2018 - - Germline - 1/167 cases MMAF - - - DNA SEQ, SEQ-NG - WES SPGF 30137358-PatFSIP-3 PubMed: Martinez 2018 - M - - Tunisia - - - - 1 Johan den Dunnen
+/. - c.2549dup r.(?) p.(Asn850Lysfs*4) Both (homozygous) - pathogenic (recessive) g.186654145dup g.185789418dup 2282dupA - FSIP2_000017 - PubMed: Martinez 2018 - - Germline - 1/167 cases MMAF - - - DNA SEQ, SEQ-NG - WES SPGF 30137358-PatFSIP-1 PubMed: Martinez 2018 - M - - Tunisia - - - - 1 Johan den Dunnen
+/. - c.2602del r.(?) p.(Ser868Hisfs*12) Paternal (confirmed) - VUS g.186654198del g.185789471del - - FSIP2_000043 - PubMed: Fregeau 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Pat7 PubMed: Fregeau 2016 affected twin brother M - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.3519del r.(?) p.(Lys1173Asnfs*19) Both (homozygous) - pathogenic (recessive) g.186655115del g.185790388del 3252delA - FSIP2_000020 - PubMed: Coutton 2019, Journal: Coutton 2019 - - Germline - 1/167 cases MMAF - - - DNA SEQ, SEQ-NG - WES SPGF 30686508-PatFSIP-7 PubMed: Coutton 2019, Journal: Coutton 2019 - M - - Tunisia - - - - 1 Johan den Dunnen
-?/. - c.3636C>T r.(?) p.(Ser1212=) Unknown - likely benign g.186655232C>T - FSIP2(NM_173651.3):c.3369C>T (p.S1123=) - FSIP2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4019G>T r.(?) p.(Ser1340Ile) Unknown - VUS g.186655615G>T g.185790888G>T FSIP2(NM_173651.3):c.3752G>T (p.S1251I) - FSIP2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4512C>A r.(?) p.(His1504Gln) Unknown - VUS g.186656108C>A g.185791381C>A FSIP2(NM_173651.2):c.4512C>A (p.(His1504Gln)) - FSIP2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.4583C>G r.(?) p.(Thr1528Arg) Maternal (confirmed) - VUS g.186656179C>G - - - FSIP2_000044 - PubMed: Fregeau 2016 - rs192957612 Germline - - - - - DNA SEQ, SEQ-NG - - NDD Pat7 PubMed: Fregeau 2016 affected twin brother M - Netherlands - - - - - 1 Johan den Dunnen
?/. - c.4757_4759del r.(?) p.(Gly1586del) Unknown - VUS g.186656353_186656355del g.185791626_185791628del FSIP2(NM_173651.2):c.4754_4756del (p.(Gly1586del)) - FSIP2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4864T>A r.(?) p.(Ser1622Thr) Unknown - VUS g.186656460T>A g.185791733T>A FSIP2(NM_173651.2):c.4864T>A (p.(Ser1622Thr)), FSIP2(NM_173651.3):c.4597T>A (p.S1533T) - FSIP2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4864T>A r.(?) p.(Ser1622Thr) Unknown - likely benign g.186656460T>A - FSIP2(NM_173651.2):c.4864T>A (p.(Ser1622Thr)), FSIP2(NM_173651.3):c.4597T>A (p.S1533T) - FSIP2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5272G>A r.(?) p.(Val1758Ile) Unknown - likely benign g.186656868G>A - FSIP2(NM_173651.3):c.5005G>A (p.V1669I) - FSIP2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5551T>G r.(?) p.(Leu1851Val) Unknown - VUS g.186657147T>G g.185792420T>G FSIP2(NM_173651.3):c.5284T>G (p.L1762V) - FSIP2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6632T>G r.(?) p.(Ile2211Arg) Unknown - VUS g.186658228T>G - FSIP2(NM_173651.3):c.6365T>G (p.I2122R) - FSIP2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6859T>A r.(?) p.(Cys2287Ser) Unknown - VUS g.186658455T>A - - - FSIP2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7103G>A r.(?) p.(Ser2368Asn) Unknown - likely benign g.186658699G>A g.185793972G>A FSIP2(NM_173651.3):c.6836G>A (p.S2279N) - FSIP2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7303G>C r.(?) p.(Ala2435Pro) Unknown - likely benign g.186658899G>C - FSIP2(NM_173651.2):c.7303G>C (p.(Ala2435Pro)) - FSIP2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.7429_7431del r.(?) p.(Ile2477del) Unknown - VUS g.186659025_186659027del g.185794298_185794300del FSIP2(NM_173651.2):c.7429_7431del (p.?) - FSIP2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.7509del r.(?) p.(Glu2504Lysfs*8) Unknown - VUS g.186659105del - FSIP2(NM_173651.4):c.7242del (p.(Glu2415Lysfs*8)) - FSIP2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.8270C>A r.(?) p.(Ser2757*) Both (homozygous) - pathogenic (recessive) g.186659866C>A g.185795139C>A 8003C>A - FSIP2_000019 - PubMed: Coutton 2019, Journal: Coutton 2019 - - Germline - 1/167 cases MMAF - - - DNA SEQ, SEQ-NG - WES SPGF 30686508-PatFSIP-6 PubMed: Coutton 2019, Journal: Coutton 2019 - M - - Tunisia - - - - 1 Johan den Dunnen
-?/. - c.8375A>G r.(?) p.(Lys2792Arg) Unknown - likely benign g.186659971A>G - FSIP2(NM_173651.3):c.8108A>G (p.K2703R) - FSIP2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.8880A>G r.(?) p.(Ile2960Met) Unknown - VUS g.186660476A>G g.185795749A>G FSIP2(NM_173651.2):c.8880A>G (p.(Ile2960Met)) - FSIP2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.8965A>G r.(?) p.(Lys2989Glu) Unknown - likely benign g.186660561A>G - FSIP2(NM_173651.4):c.8698A>G (p.(Lys2900Glu)) - chr2_024326 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.9938C>T r.(?) p.(Thr3313Met) Unknown - likely benign g.186661534C>T g.185796807C>T FSIP2(NM_173651.3):c.9671C>T (p.T3224M) - FSIP2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.11014G>A r.(?) p.(Val3672Ile) Unknown - VUS g.186664780G>A - FSIP2(NM_173651.4):c.10747G>A (p.(Val3583Ile)) - FSIP2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.11851G>T r.(?) p.(Ala3951Ser) Unknown - likely benign g.186665617G>T g.185800890G>T FSIP2(NM_173651.3):c.11584G>T (p.A3862S) - FSIP2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.12260T>A r.(?) p.(Ile4087Asn) Unknown - VUS g.186666026T>A - FSIP2(NM_173651.4):c.11993T>A (p.(Ile3998Asn)) - FSIP2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.12522dup r.(?) p.(Glu4175Argfs*26) Unknown - likely pathogenic g.186666288dup - - - FSIP2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.12961C>T r.(?) p.(Gln4321Ter) Unknown - VUS g.186666727C>T g.185802000C>T FSIP2(NM_173651.2):c.12961C>T (p.(Gln4321Ter)) - FSIP2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.13133T>C r.(?) p.(Val4378Ala) Unknown - VUS g.186666899T>C - FSIP2(NM_173651.3):c.12866T>C (p.V4289A) - FSIP2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.13693C>T r.(?) p.(Leu4565=) Unknown - likely benign g.186667459C>T g.185802732C>T FSIP2(NM_173651.3):c.13426C>T (p.L4476=) - FSIP2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.14667G>T r.(?) p.(Gln4889His) Unknown - VUS g.186668433G>T g.185803706G>T FSIP2(NM_173651.2):c.14667G>T (p.(Gln4889His)) - FSIP2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.14820A>C r.(?) p.(Lys4940Asn) Unknown - VUS g.186668586A>C - - - FSIP2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.14879T>G r.(?) p.(Leu4960Arg) Unknown - VUS g.186668645T>G g.185803918T>G FSIP2(NM_173651.2):c.14879T>G (p.(Leu4960Arg)) - FSIP2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.14936T>C r.(?) p.(Ile4979Thr) Unknown - VUS g.186668702T>C - FSIP2(NM_173651.3):c.14669T>C (p.I4890T) - FSIP2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.15163C>T r.(?) p.(His5055Tyr) Unknown - VUS g.186668929C>T g.185804202C>T FSIP2(NM_173651.3):c.14896C>T (p.H4966Y) - FSIP2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.15197del r.(?) p.(Val5066Glyfs*3) Unknown - VUS g.186668963del - FSIP2(NM_173651.4):c.14930del (p.(Val4977Glyfs*3)) - chr2_024327 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.15242T>C r.(?) p.(Ile5081Thr) Unknown - VUS g.186669008T>C g.185804281T>C FSIP2(NM_173651.2):c.15242T>C (p.(Ile5081Thr)) - FSIP2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.15485T>C r.(?) p.(Leu5162Ser) Unknown - VUS g.186669251T>C g.185804524T>C FSIP2(NM_173651.2):c.15485T>C (p.(Leu5162Ser)) - FSIP2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.16660_16663del r.(?) p.(Asn5554Glufs*4) Both (homozygous) - pathogenic (recessive) g.186670426_186670429del g.185805699_185805702del 16389_16392delAATA - FSIP2_000018 - PubMed: Martinez 2018 - - Germline - 1/167 cases MMAF - - - DNA SEQ, SEQ-NG - WES SPGF 30137358-PatFSIP-4 PubMed: Martinez 2018 - M - - Tunisia - - - - 1 Johan den Dunnen
-?/. - c.17157C>T r.(?) p.(Ser5719=) Unknown - likely benign g.186670923C>T - FSIP2(NM_173651.3):c.16890C>T (p.S5630=) - FSIP2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.18370G>A r.(?) p.(Glu6124Lys) Unknown - VUS g.186672136G>A g.185807409G>A FSIP2(NM_173651.3):c.18103G>A (p.E6035K) - FSIP2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.19022T>C r.(?) p.(Ile6341Thr) Unknown - VUS g.186672788T>C g.185808061T>C FSIP2(NM_173651.3):c.18755T>C (p.I6252T) - FSIP2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.19675A>G r.(?) p.(Ile6559Val) Unknown - likely benign g.186673441A>G - FSIP2(NM_173651.3):c.19408A>G (p.I6470V) - FSIP2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.19862T>C r.(?) p.(Ile6621Thr) Unknown - VUS g.186673628T>C g.185808901T>C FSIP2(NM_173651.2):c.19862T>C (p.(Ile6621Thr)) - FSIP2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.20039C>T r.(?) p.(Thr6680Ile) Unknown - likely benign g.186673805C>T - FSIP2(NM_173651.4):c.19772C>T (p.(Thr6591Ile)) - FSIP2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.20402T>G r.(?) p.(Phe6801Cys) Unknown - VUS g.186678579T>G g.185813852T>G FSIP2(NM_173651.3):c.20135T>G (p.F6712C) - FSIP2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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