Full data view for gene NFIB

Information The variants shown are described using the NM_001190737.1 transcript reference sequence.

38 entries on 1 page. Showing entries 1 - 38.
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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.(?_-2305499)_616+958del r.0? p.0? Unknown - pathogenic (dominant) g.(14155893_14178768)_(16619009_?)del - 14178768_16619009 x1 - NFIB_000013 - PubMed: Schanze 2018, Journal: Schanze 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID 30388402-Pat13 PubMed: Schanze 2018, Journal: Schanze 2018 - F - - - - - - - 1 Johan den Dunnen
-?/. - c.-85087G>C r.(?) p.(=) Unknown - likely benign g.14398597C>G - NFIB(NM_001190738.1):c.34G>C (p.(Val12Leu)) - NFIB_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.(?_-72528)_(1467+10823_1468-1)del r.0? p.0? Unknown - pathogenic (dominant) g.(14088326_14102175)_(14386038_14398522)del - 14102175_14386038 x1 - NFIB_000010 - PubMed: Schanze 2018, Journal: Schanze 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID 30388402-Pat9 PubMed: Schanze 2018, Journal: Schanze 2018 2-generation family, 1 affected, unaffected non-carrier parents M - - white - - - - 1 Johan den Dunnen
+/. - c.(?_-10637)_(1468-10334_1468-1)del r.0? p.0? Parent #1 - pathogenic (dominant) g.(14088326_14098659)_(14324147_14398522)del - 14098659_14324147x1 - NFIB_000009 - PubMed: Schanze 2018, Journal: Schanze 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID 30388402-Pat8a/b PubMed: Schanze 2018, Journal: Schanze 2018 2-generation family, affected sisters, unaffected non-carrier parents F - - - - - - - 2 Johan den Dunnen
+/. - c.(562+1_562+20729)_(*113893_)del r.? p.? Unknown - pathogenic (dominant) g.(?_13974415)_(14286259_14306987)del - 13974415_14286259 x1 - NFIB_000011 - PubMed: Schanze 2018, Journal: Schanze 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID 30388402-Pat10a/b PubMed: Schanze 2018, Journal: Schanze 2018 2-generation family, affected mother/daughter F - - - - - - - 2 Johan den Dunnen
+/. - c.0 r.0 p.0 Unknown - pathogenic (dominant) g.(?_13106806)_(14639971_?)del - 13106806_14639971 x1 - NFIB_000012 - PubMed: Schanze 2018, Journal: Schanze 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID 30388402-Pat11 PubMed: Schanze 2018, Journal: Schanze 2018 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.0 r.0 p.0 Unknown - pathogenic (dominant) g.(?_13034407)_(14653394_?)del - 13034407_14653394 x1 - NFIB_000012 - PubMed: Schanze 2018, Journal: Schanze 2018 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES ID 30388402-Pat12 PubMed: Schanze 2018, Journal: Schanze 2018 adopted M - - - - - - - 1 Johan den Dunnen
+/. - c.0 r.0 p.0 Unknown - pathogenic (dominant) g.(?_13563537)_(18491752_?)del - 13563537_18491752 x1 - NFIB_000012 - PubMed: Schanze 2018, Journal: Schanze 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID 30388402-Pat14 PubMed: Schanze 2018, Journal: Schanze 2018 2-generation family, 1 affected, unaffected non-carrier parents F - - white - - - - 1 Johan den Dunnen
+/. - c.0 r.0 p.0 Unknown - pathogenic (dominant) g.(?_13739630)_(18023839_?)del - 13739630_18023839 x1 - NFIB_000012 - PubMed: Schanze 2018, Journal: Schanze 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID 30388402-Pat15 PubMed: Schanze 2018, Journal: Schanze 2018 2-generation family, 1 affected, unaffected non-carrier parents M - - white - - - - 1 Johan den Dunnen
?/. - c.11C>T r.(?) p.(Ser4Phe) Unknown - VUS g.14313500G>A - NFIB(NM_001190737.2):c.11C>T (p.S4F) - NFIB_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.109C>T r.(?) p.(Arg37*) Unknown - pathogenic (dominant) g.14307441G>A g.14307442G>A - - NFIB_000001 - PubMed: Schanze 2018, Journal: Schanze 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID 30388402-Pat1 PubMed: Schanze 2018, Journal: Schanze 2018 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.109C>T r.(?) p.(Arg37Ter) Unknown - likely pathogenic g.14307441G>A - NFIB(NM_001190737.2):c.109C>T (p.R37*) - NFIB_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.110G>A r.(?) p.(Arg37Gln) Unknown - VUS g.14307440C>T - NFIB(NM_001190737.2):c.110G>A (p.(Arg37Gln)) - NFIB_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.115C>T r.(?) p.(Arg39Cys) Unknown - VUS g.14307435G>A - NFIB(NM_001190737.1):c.115C>T (p.(Arg39Cys)) - NFIB_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.142C>T r.(?) p.(Arg48Ter) Unknown - VUS g.14307408G>A g.14307409G>A NFIB(NM_001190737.2):c.142C>T (p.R48*) - NFIB_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.265C>T r.(?) p.(Arg89*) Unknown - pathogenic (dominant) g.14307285G>A g.14307286G>A - - NFIB_000003 - PubMed: Schanze 2018, Journal: Schanze 2018 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES ID 30388402-Pat2 PubMed: Schanze 2018, Journal: Schanze 2018 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.341A>C r.(?) p.(Lys114Thr) Unknown - pathogenic (dominant) g.14307209T>G g.14307210T>G - - NFIB_000004 - PubMed: Schanze 2018, Journal: Schanze 2018 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES ID 30388402-Pat3 PubMed: Schanze 2018, Journal: Schanze 2018 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.376A>G r.(?) p.(Lys126Glu) Unknown - pathogenic (dominant) g.14307174T>C g.14307175T>C - - NFIB_000005 - PubMed: Schanze 2018, Journal: Schanze 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID 30388402-Pat4 PubMed: Schanze 2018, Journal: Schanze 2018 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.395T>C r.(?) p.(Leu132Pro) Unknown - pathogenic (dominant) g.14307155A>G g.14307156A>G - - NFIB_000006 - PubMed: Schanze 2018, Journal: Schanze 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID 30388402-Pat5 PubMed: Schanze 2018, Journal: Schanze 2018 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
?/. - c.457A>G r.(?) p.(Lys153Glu) Unknown - VUS g.14307093T>C g.14307094T>C - - NFIB_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.550G>A r.(?) p.(Val184Met) Unknown - VUS g.14307000C>T - NFIB(NM_001190737.1):c.550G>A (p.(Val184Met)) - NFIB_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.562+11626A>C r.(=) p.(=) Unknown - likely benign g.14295362T>G - NFIB(NM_001190737.2):c.562+11626A>C - NFIB_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.572_588del r.(?) p.(Gln191Profs*3) Unknown - likely pathogenic g.14179755_14179771del - - - NFIB_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.601G>C r.(?) p.(Ala201Pro) Unknown - likely benign g.14179741C>G - - - NFIB_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.617-8A>G r.(=) p.(=) Unknown - likely benign g.14155900T>C - NFIB(NM_001190737.2):c.617-8A>G - NFIB_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.656A>G r.(?) p.(Asn219Ser) Unknown - likely benign g.14155853T>C - NFIB(NM_001190737.2):c.656A>G (p.(Asn219Ser)) - NFIB_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.662C>G r.(?) p.(Ser221*) Paternal (confirmed) ACMG pathogenic (paternal) g.14155847G>C - - - NFIB_000025 inherited from father with intellectual disability - - - Germline yes - - - - DNA SEQ-NG-I - - NEDHFS - - - - - - - - - - - 1 Marketa Wayhelova
?/. - c.685+5G>T r.spl? p.? Unknown - VUS g.14155819C>A - NFIB(NM_001190737.1):c.685+5G>T (p.?) - NFIB_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.754G>C r.(?) p.(Asp252His) Unknown - likely benign g.14150196C>G - NFIB(NM_001190737.1):c.754G>C (p.(Asp252His)) - NFIB_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.758_759dup r.(?) p.(Asn254*) Unknown - pathogenic (dominant) g.14150191_14150192dup g.14150192_14150193dup 758_759dupTG - NFIB_000007 - PubMed: Schanze 2018, Journal: Schanze 2018 - - De novo yes - - - - DNA SEQ, SEQ-NG - WES ID 30388402-Pat6a/b PubMed: Schanze 2018, Journal: Schanze 2018 2-generation family, affected mother/son F;M - - Jewish-Ashkenazi;Jewish-Sephardic - - - - 2 Johan den Dunnen
-?/. - c.806+4C>T r.spl? p.? Unknown - likely benign g.14150140G>A g.14150141G>A NFIB(NM_001190737.1):c.806+4C>T (p.?) - NFIB_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.899G>A r.(?) p.(Ser300Asn) Unknown - likely benign g.14146714C>T - NFIB(NM_001190737.2):c.899G>A (p.S300N) - NFIB_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1063_1076del r.(?) p.(Ile355Serfs*48) Unknown - pathogenic (dominant) g.14120609_14120622del g.14120610_14120623del - - NFIB_000008 - PubMed: Schanze 2018, Journal: Schanze 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID 30388402-Pat7 PubMed: Schanze 2018, Journal: Schanze 2018 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.1067C>T r.(?) p.(Ser356Leu) Unknown - pathogenic (dominant) g.14120617G>A g.14120618G>A - - NFIB_000014 - PubMed: Schanze 2018, Journal: Schanze 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID 30388402-Pat16 PubMed: Schanze 2018, Journal: Schanze 2018 fetus M - - - - - - - 1 Johan den Dunnen
+?/. - c.1134_1143del r.(?) p.(Ser379Phefs*12) Unknown - likely pathogenic g.14120542_14120551del - NFIB(NM_001369461.1):c.1134_1143delATCGAGCTAC (p.S379Ffs*12) - NFIB_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1235A>C r.(?) p.(Gln412Pro) Unknown - VUS g.14120449T>G - - - NFIB_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1264G>C r.(?) p.(Val422Leu) Unknown - likely benign g.14116327C>G - NFIB(NM_001190737.2):c.1264G>C (p.V422L) - NFIB_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1417C>T r.(?) p.(Arg473*) Unknown - likely pathogenic g.14113048G>A - - - NFIB_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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