Full data view for gene FLNA

Information The variants shown are described using the NM_001110556.1 transcript reference sequence.

785 entries on 8 pages. Showing entries 1 - 100.
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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     
?/. 32 c.? r.? p.? Unknown - VUS g.? - c.5308G>C (Val1770Leu) - USP9X_000005 - PubMed: Ganapathy 2019 - - Germline - - - 0 - DNA SEQ-NG - TruSight One panel ? S-2971 PubMed: Ganapathy 2019 - - - India - - 0 - - 1 Johan den Dunnen
?/. 12 c.? r.? p.? Unknown - VUS g.? - c.1807G>A p.Gly603Arg) - USP9X_000005 - 0 - rs200116438 Germline - - - 0 - DNA SEQ-NG - TruSight One panel ? R-0109 PubMed: Ganapathy 2019 - - - India - - 0 - - 1 Johan den Dunnen
./. - c.-1119672_*11376dup - - Maternal (confirmed) - pathogenic g.153565841_154722429dup g.154337626_155494214dup - - DKC1_000000 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
./. - c.-258351_*6809dup r.0? p.0? Maternal (inferred) - pathogenic g.153570408_153861108dup g.154342193_154632893dup GDI1 - FLNA_000307 - PubMed: Hu 2016 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamMRX75/D13 PubMed: Hu 2016 family, 1 affected, 4 unaffected heterozygous carrier females M - - - - 0 - - 1 Johan den Dunnen
+/. _1_26i c.(?_-24136)_(4474+11_?)dup r.(?) p.? Unknown ACMG pathogenic g.(?_153587341)_(153626893_?)dup - hg38 Xq28(153,587,341-153,626,893)x3 FLNA_000305 - PubMed: Tumienė 2018 - - De novo - - - 0 - DNA SEQ-NG - WES ? 29286531-Pat35 PubMed: Tumienė 2018 - - - (Slovenia) - - 0 - - 1 Johan den Dunnen
./. - c.-7149_*866411dup r.0? p.0? Maternal (confirmed) - pathogenic g.152710806_153609906dup - MECP2 - MECP2_002820 - PubMed: Hu 2016 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamAU29 PubMed: Hu 2016 family, 2 affected, 1 unaffected heterozygous carrier female M - - - - 0 - - 2 Johan den Dunnen
-?/. - c.-5186C>T r.(?) p.(=) Unknown - likely benign g.153607943G>A g.154379583G>A EMD(NM_000117.2):c.82+17G>A - EMD_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-5174C>A r.(?) p.(=) Unknown - likely benign g.153607931G>T g.154379571G>T - - FLNA_000385 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-5158C>G r.(?) p.(=) Unknown - VUS g.153607915G>C g.154379555G>C - - FLNA_000384 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-5153C>A r.(?) p.(=) Unknown - benign g.153607910G>T g.154379550G>T EMD(NM_000117.2):c.66G>T (p.P22=) - FLNA_000383 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5117G>C r.(?) p.(=) Unknown - likely benign g.153607874C>G g.154379514C>G - - FLNA_000382 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. _1i_13i_ c.(-5087_-116-1)_(2022+1_2137-1)del r.0? p.0? Unknown - pathogenic g.(153592534_153592893)_(153599730_153607844)del - - - FLNA_000118 de novo deletion FLNA exon 2, 5, 13 with exon 15 and EMD gene normal PubMed: Reinstein 2013, Journal: Reinstein 2013 - - De novo - - - 0 - DNA SEQ, SEQ-NG - - PVNH-4 - PubMed: Reinstein 2013, Journal: Reinstein 2013 18y patient from diamniotic twin pregnancy F - - - - 0 added by student Denise van Abswoude - 1 Johan den Dunnen
+/. _1_48_ c.(?_-249)_(*317_?)dup r.? p.? Maternal (confirmed) - pathogenic g.153576900_153603006dup - - - FLNA_000012 2.5 Mb duplication from IDH intron 1 (base 3377) to the pseudoautosomal region Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Fox 1998, PubMed: Fink 1997 - - Germline - - - 0 - DNA SSCA, Southern, FISH - - PVNH-1 - - - M - (United States) - - 0 - - 1 Yu Sun
-/. _1_48_ c.(?_-249)_(*317_?)inv r.(=) p.(=) Maternal (confirmed) - benign g.(153564000_153607597)_(153609883_153624000)inv - - - EMD_000089 48kb inversion FLNA/EMD PubMed: Small 1997 - - Germline - 19/106 controls - 0 - DNA Southern - - ? - PubMed: Small large inversion incl. FLNA + EMD between two 11.3Kb inverted repeats (99% sequence identity) - - - - - 0 - - 1 Johan den Dunnen
-?/. - c.-116-13G>C r.(=) p.(=) Unknown - likely benign g.153599742C>G g.154371374C>G FLNA(NM_001110556.2):c.-116-13G>C - FLNA_000433 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-116-5C>T r.spl? p.? Unknown - likely benign g.153599734G>A g.154371366G>A FLNA(NM_001110556.2):c.-116-5C>T - FLNA_000381 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.13C>T r.(?) p.(His5Tyr) Unknown - likely benign g.153599601G>A g.154371233G>A FLNA(NM_001110556.2):c.13C>T (p.H5Y) - FLNA_000380 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.62_64dup r.(?) p.(Val21dup) Unknown - likely benign g.153599552_153599554dup g.154371184_154371186dup FLNA(NM_001110556.1):c.64_65insTCG (p.(Val21dup)), FLNA(NM_001110556.2):c.58_60dupTCG (p.V21dup), FLNA(NM_001110556.2):c.62_64dupTCG (p.V21dup) - FLNA_000281 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.62_64dup r.(?) p.(Val21dup) Unknown - VUS g.153599552_153599554dup g.154371184_154371186dup FLNA(NM_001110556.1):c.64_65insTCG (p.(Val21dup)), FLNA(NM_001110556.2):c.58_60dupTCG (p.V21dup), FLNA(NM_001110556.2):c.62_64dupTCG (p.V21dup) - FLNA_000281 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.62_64dup r.(?) p.(Val21dup) Unknown - benign g.153599552_153599554dup g.154371184_154371186dup FLNA(NM_001110556.1):c.64_65insTCG (p.(Val21dup)), FLNA(NM_001110556.2):c.58_60dupTCG (p.V21dup), FLNA(NM_001110556.2):c.62_64dupTCG (p.V21dup) - FLNA_000281 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.62_64dup r.(?) p.(Val21dup) Unknown - likely benign g.153599552_153599554dup g.154371184_154371186dup FLNA(NM_001110556.1):c.64_65insTCG (p.(Val21dup)), FLNA(NM_001110556.2):c.58_60dupTCG (p.V21dup), FLNA(NM_001110556.2):c.62_64dupTCG (p.V21dup) - FLNA_000281 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.63C>T r.(?) p.(Val21=) Unknown - likely benign g.153599551G>A g.154371183G>A FLNA(NM_001110556.2):c.63C>T (p.V21=) - FLNA_000379 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.64_66dup r.(?) p.(Asp22dup) Unknown - likely pathogenic g.153599549_153599551dup g.154371181_154371183dup NM_001456.3(FLNA):c.64_66dup p.(Asp22dup) - FLNA_000122 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - 0 - DNA SEQ-NG - - cancer, gastric Vogelaar-162A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - 0 - - 1 Marjolijn JL Ligtenberg
-?/. - c.65A>T r.(?) p.(Asp22Val) Unknown - likely benign g.153599549T>A g.154371181T>A FLNA(NM_001110556.2):c.65A>T (p.D22V) - FLNA_000280 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.67_68del r.(?) p.(Thr23Alafs*82) Maternal (confirmed) - pathogenic g.153599548_153599549del g.154371180_154371181del 65_66delAC - FLNA_000053 absent in 164 control X chromosomes PubMed: Gargiulo 2007, OMIM:var0025 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Gargiulo 2007 - F - Italy - - 0 - - 1 Yu Sun
+/. 2 c.67_68del r.(?) p.(Thr23Alafs*82) Maternal (confirmed) - pathogenic g.153599548_153599549del g.154371180_154371181del 65_66delAC - FLNA_000053 absent in 164 control X chromosomes PubMed: Gargiulo 2007, OMIM:var0025 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Gargiulo 2007 mother of II-1 and II-5 F - Italy - - 0 - - 1 Yu Sun
+/. 2 c.67_68del r.(?) p.(Thr23Alafs*82) Maternal (confirmed) - pathogenic g.153599548_153599549del g.154371180_154371181del 65_66delAC - FLNA_000053 absent in 164 control X chromosomes PubMed: Gargiulo 2007, OMIM:var0025 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Gargiulo 2007 mother of III-2, daughter of I-1, sister of II-5 F - Italy - - 0 - - 1 Yu Sun
+/. 2 c.67_68del r.(?) p.(Thr23Alafs*82) Maternal (confirmed) - pathogenic g.153599548_153599549del g.154371180_154371181del 65_66delAC - FLNA_000053 absent in 164 control X chromosomes PubMed: Gargiulo 2007, OMIM:var0025 - - Germline - - - 0 - DNA, RNA, protein SEQ, RT-PCR - - Healthy/Control - PubMed: Gargiulo 2007 mother of IV-5; daughter of II-5 M - Italy - - 0 - - 1 Yu Sun
+/. 2 c.67_68del r.(?) p.(Thr23Alafs*82) Maternal (confirmed) - pathogenic g.153599548_153599549del g.154371180_154371181del 65_66delAC - FLNA_000053 absent in 164 control X chromosomes PubMed: Gargiulo 2007, OMIM:var0025 - - Germline - - - 0 - DNA, RNA, protein SEQ, RT-PCR - - Healthy/Control - PubMed: Gargiulo 2007 son of III-2 M - Italy - - 0 - - 1 Yu Sun
+/. 2 c.67_68del r.(?) p.(Thr23Alafs*82) Maternal (confirmed) - pathogenic g.153599548_153599549del g.154371180_154371181del 65_66delAC - FLNA_000053 absent in 164 control X chromosomes PubMed: Gargiulo 2007, OMIM:var0025 - - Germline - - - 0 - DNA SEQ - - CIIPX - PubMed: Gargiulo 2007 mother of III-6, daughter of I-1, sister of II-1 F - Italy - - 0 - - 1 Yu Sun
+/. 2 c.67_68del r.(?) p.(Thr23Alafs*82) Maternal (confirmed) - pathogenic g.153599548_153599549del g.154371180_154371181del 65_66delAC - FLNA_000053 absent in 164 control X chromosomes PubMed: Gargiulo 2007, OMIM:var0025 - - Germline - - - 0 - DNA SEQ - - CIIPX - PubMed: Gargiulo 2007 mother of IV-1, daughter of II-1 F - Italy - - 0 - - 1 Yu Sun
?/. - c.70C>T r.(?) p.(Arg24Trp) Unknown - VUS g.153599544G>A g.154371176G>A FLNA(NM_001110556.2):c.70C>T (p.R24W) - FLNA_000278 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.77C>T r.(?) p.(Ala26Val) Unknown - VUS g.153599537G>A g.154371169G>A FLNA(NM_001110556.2):c.77C>T (p.A26V) - FLNA_000277 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.81G>T r.(?) p.(Glu27Asp) Unknown - VUS g.153599533C>A g.154371165C>A FLNA(NM_001110556.1):c.81G>T (p.(Glu27Asp)) - FLNA_000432 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.83T>C r.(?) p.(Met28Thr) Unknown - VUS g.153599531A>G g.154371163A>G FLNA(NM_001110556.1):c.83T>C (p.(Met28Thr)) - FLNA_000276 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.85C>A r.(?) p.(Pro29Thr) Unknown - VUS g.153599529G>T g.154371161G>T FLNA(NM_001110556.1):c.85C>A (p.(Pro29Thr)) - FLNA_000431 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.85C>G r.(?) p.(Pro29Ala) Unknown - VUS g.153599529G>C g.154371161G>C FLNA(NM_001110556.1):c.85C>G (p.(Pro29Ala)) - FLNA_000275 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.85_86insTA r.(?) p.(Pro29LeufsTer30) Unknown - VUS g.153599528_153599529insTA g.154371160_154371161insTA FLNA(NM_001110556.1):c.85_86insTA (p.(Pro29LeufsTer30)) - FLNA_000430 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.88G>A r.(?) p.(Ala30Thr) Unknown - VUS g.153599526C>T g.154371158C>T FLNA(NM_001110556.1):c.88G>A (p.(Ala30Thr)) - FLNA_000274 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.89_90insGAC r.(?) p.(Thr31dup) Unknown - VUS g.153599525_153599526insTCG g.154371157_154371158insTCG FLNA(NM_001110556.1):c.89_90insGAC (p.(Ala30_Thr31insThr)) - FLNA_000429 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.116C>G r.(?) p.(Ala39Gly) Parent #1 - pathogenic g.153599498G>C g.154371130G>C - - FLNA_000036 not in236 control chromosomes PubMed: Sheen 2005, OMIM:var0019 - - Germline - - - 0 - DNA SEQ - - PVNH-4 - PubMed: Sheen 2005 son of III-6 F - - - - 0 - - 1 Yu Sun
?/. - c.152G>C r.(?) p.(Arg51Pro) Unknown - VUS g.153599462C>G g.154371094C>G - - FLNA_000448 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.169del r.(?) p.(Leu57Ter) Unknown - pathogenic g.153599446del g.154371078del FLNA(NM_001110556.2):c.169delC (p.L57*) - FLNA_000377 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.237G>C r.(?) p.(Ala79=) Unknown - likely benign g.153599377C>G g.154371009C>G FLNA(NM_001110556.2):c.237G>C (p.A79=) - FLNA_000376 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.237G>C r.(?) p.(Ala79=) Unknown - likely benign g.153599377C>G - FLNA(NM_001110556.2):c.237G>C (p.A79=) - FLNA_000376 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.238C>G r.(?) p.(Leu80Val) Unknown - likely pathogenic g.153599376G>C g.154371008G>C - - FLNA_000123 - - - - De novo - - - 0 - DNA SEQ-NG-I - - PVNH-4 - - - M no India - - 0 - - 1 Elyssa Cannaerts
+/. - c.238C>G r.(?) p.(Leu80Val) Unknown - pathogenic g.153599376G>C g.154371008G>C FLNA(NM_001110556.2):c.238C>G (p.L80V) - FLNA_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.245A>T r.(?) p.(Glu82Val) Parent #1 - pathogenic g.153599369T>A g.154371001T>A - - FLNA_000019 not in 100 control chromosomes PubMed: Moro 2002, {OMIM300017.0008} - rs28935169 Germline - - - 0 - DNA SSCA, SEQ - - PVNH-1 - PubMed: Moro 2002 mother of 1-III:5, unaffected parents; 3 sons died within 1st week, a brother died as a young adult F - Italy - - 0 - - 1 Yu Sun
+/. 2 c.245A>T r.(?) p.(Glu82Val) Maternal (confirmed) - pathogenic g.153599369T>A g.154371001T>A - - FLNA_000019 not in 100 control chromosomes PubMed: Moro 2002, {OMIM300017.0008} - rs28935169 Germline - - - 0 - DNA SSCA, SEQ - - PVNH-1 - PubMed: Moro 2002 mother of 1-IV:6 and 1-IV:9, daughter of 1-II:2; 2 sons died at 5mth/day 5, two spontaneous abortions at 5th month, one is male F - Italy - - 0 - - 1 Yu Sun
+/. 2 c.245A>T r.(?) p.(Glu82Val) Maternal (confirmed) - pathogenic g.153599369T>A g.154371001T>A - - FLNA_000019 not in 100 control chromosomes PubMed: Moro 2002, {OMIM300017.0008} - rs28935169 Germline - - - 0 - DNA SSCA, SEQ - - PVNH-1 - PubMed: Moro 2002 elder sister of 1-IV:9, daughter of 1-III:5 F - Italy - - 0 - - 1 Yu Sun
+/. 2 c.245A>T r.(?) p.(Glu82Val) Maternal (confirmed) - pathogenic g.153599369T>A g.154371001T>A - - FLNA_000019 not in 100 control chromosomes PubMed: Moro 2002, {OMIM300017.0008} - rs28935169 Germline - - - 0 - DNA SEQ - - PVNH-1 - PubMed: Moro 2002 proband of family 1, daughter of 1-III:5, younger sister of 1-IV:6 F - Italy - - 0 - - 1 Yu Sun
+/. 2 c.287_291del r.(?) p.(Arg96Hisfs*8) Parent #1 - pathogenic g.153599324_153599328del g.154370956_154370960del - - FLNA_000011 RNA blood X-inactivation random PubMed: Fox 1998, OMIM:var0005 - - Germline - - - 0 - DNA SSCA - - PVNH-1 - PubMed: Fox 1998 - F - (United States) - - 0 - - 1 Yu Sun
+/. - c.306G>A r.(?) p.(Met102Ile) Unknown - pathogenic g.153599308C>T g.154370940C>T FLNA(NM_001110556.2):c.306G>A (p.M102I) - FLNA_000273 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.356T>A r.(?) p.(Ile119Asn) Paternal (inferred) - pathogenic g.153599258A>T g.154370890A>T - - FLNA_000058 not in 150 control chromosomes PubMed: Sole 2009 - - Germline - - - 0 - DNA DHPLC - - PVNH-1 - PubMed: Sole 2009 - F - France - - 0 - - 1 Yu Sun
+/. 2 c.365T>G r.(?) p.(Val122Gly) Maternal (confirmed) - pathogenic g.153599249A>C g.154370881A>C - - FLNA_000067 not in 150 control chromosomes PubMed: Sole 2009 - - Germline - - - 0 - DNA DHPLC - - PVNH-1 - PubMed: Sole 2009 mother of 19917821.9 F - France - - 0 - - 1 Yu Sun
+/. 2 c.365T>G r.(?) p.(Val122Gly) Parent #1 - pathogenic g.153599249A>C g.154370881A>C - - FLNA_000067 not in 150 control chromosomes PubMed: Sole 2009 - - Germline - - - 0 - DNA DHPLC - - PVNH-1 - PubMed: Sole 2009 daughter of 19917821.8 F - France - - 0 - - 1 Yu Sun
+/. 2 c.368C>A r.(?) p.(Ser123Tyr) Parent #1 - pathogenic g.153599246G>T g.154370878G>T - - FLNA_000064 not in 150 control chromosomes PubMed: Sole 2009 - - Germline - - - 0 - DNA DHPLC - - PVNH-1 - PubMed: Sole 2009 - F - France - - 0 - - 1 Yu Sun
+/. 2i c.373+1G>A r.spl? p.? Parent #1 - pathogenic g.153599240C>T g.154370872C>T IVS2+2G>A - FLNA_000010 - PubMed: Fox 1998, OMIM:var0004 - - Germline - - - 0 - DNA SSCA - - PVNH-1 - PubMed: Fox 1998 - F - (United States) - - 0 - - 1 Yu Sun
-/. - c.374-19G>A r.(=) p.(=) Unknown - benign g.153596477C>T g.154368109C>T FLNA(NM_001110556.2):c.374-19G>A - FLNA_000272 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.374-19G>A r.(=) p.(=) Unknown - benign g.153596477C>T g.154368109C>T FLNA(NM_001110556.2):c.374-19G>A - FLNA_000272 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 3 c.381G>C r.(?) p.(Lys127Asn) Maternal (confirmed) - likely pathogenic g.153596451C>G g.154368083C>G - - FLNA_000111 - PubMed: Reinstein 2013 - - Germline - - - 0 - DNA SEQ - - PVNH-4 - PubMed: Reinstein 2013 3-generation family, affected male M3, affected mother (M3m) M - Australia - - 0 - - 2 M Walsh
+?/. 3 c.381G>C r.(?) p.(Lys127Asn) Unknown - likely pathogenic g.153596451C>G g.154368083C>G - - FLNA_000111 - PubMed: Reinstein 2013 - - De novo - - - 0 - DNA SEQ - - ? - PubMed: Reinstein 2013 mother of PatM3m F no Australia - - 0 - - 1 Johan den Dunnen
+/. 3 c.381G>C r.(?) p.(Lys127Asn) Maternal (confirmed) - pathogenic g.153596451C>G g.154368083C>G - - FLNA_000111 mother carrier of de novo variant PubMed: Reinstein 2013, Journal: Reinstein 2013 - - De novo - - - 0 - DNA SEQ, SEQ-NG - - EDS - PubMed: Reinstein 2013, Journal: Reinstein 2013 2-generation family, isolated case, heterozygous carrier mother with mild joint hypermobility (Beighton score 4/8) and no neurological symptomatology M - - - - 0 added by student Rosa van Ewijk - 2 Johan den Dunnen
+/. 3 c.383C>T r.(?) p.(Ala128Val) Parent #1 - pathogenic g.153596449G>A g.154368081G>A - - FLNA_000038 not in 184 control chromosomes PubMed: Gomez-Garre 2006, OMIM:var0021 - - Germline - - - 0 - DNA SEQ - - PVNH-4 - PubMed: Gomez-Garre 2006 mother of III-2 F - - - - 0 - - 1 Yu Sun
+/. 3 c.383C>T r.(?) p.(Ala128Val) Maternal (confirmed) - pathogenic g.153596449G>A g.154368081G>A - - FLNA_000038 not in 184 control chromosomes PubMed: Gomez-Garre 2006, OMIM:var0021 - - Germline - - - 0 - DNA SEQ - - PVNH-4 - PubMed: Gomez-Garre 2006 mother of IV-1,daughter of II-2 F - - - - 0 - - 1 Yu Sun
+/. 3 c.383C>T r.(?) p.(Ala128Val) Maternal (confirmed) - pathogenic g.153596449G>A g.154368081G>A - - FLNA_000038 not in 184 control chromosomes PubMed: Gomez-Garre 2006, OMIM:var0021 - - Germline - - - 0 - DNA SEQ - - PVNH-4 - PubMed: Gomez-Garre 2006 daughter of III-2 F - - - - 0 - - 1 Yu Sun
+/. 3 c.387C>G r.(?) p.(Ile129Met) Maternal (confirmed) - pathogenic g.153596445G>C g.154368077G>C - - FLNA_000114 - PubMed: Reinstein 2013, Journal: Reinstein 2013 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - EDS - PubMed: Reinstein 2013, Journal: Reinstein 2013 2-generation family, isolated case, unaffected heterozygous carrier mother M - - - - 0 added by student Rosa van Ewijk - 1 Johan den Dunnen
-?/. - c.387C>T r.(?) p.(Ile129=) Unknown - likely benign g.153596445G>A g.154368077G>A FLNA(NM_001110556.2):c.387C>T (p.I129=) - FLNA_000271 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.508C>T r.(?) p.(Gln170*) Maternal (confirmed) ACMG pathogenic g.153596324G>A g.154367956G>A - - FLNA_000449 - - - - Germline yes - - 0 - DNA SEQ - - PVNH - - - F no Estonia - - - - - 1 Laura Tanner
+/. 3 c.509A>C r.(?) p.(Gln170Pro) Parent #1 - pathogenic g.153596323T>G g.154367955T>G - - FLNA_000076 - PubMed: Robertson 2003 - - Germline - 1/30 - 0 - DNA DHPLC - - OPD-2 - PubMed: Robertson 2003, PubMed: Stratton 1991 - M - - - - 0 - - 2 Yu Sun
+/. 3 c.514C>T r.(?) p.(Leu172Phe) Parent #1 - pathogenic g.153596318G>A g.154367950G>A - - FLNA_000077 - PubMed: Robertson 2003 - - Germline - 1/30 - 0 - DNA DHPLC - - OPD-1 - PubMed: Robertson 2003 - M - - - - 0 - - 1 Yu Sun
-?/. - c.543G>A r.(?) p.(Pro181=) Unknown - likely benign g.153596289C>T g.154367921C>T FLNA(NM_001110556.2):c.543G>A (p.P181=), FLNA(NM_001456.3):c.543G>A (p.P181=) - FLNA_000375 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.543G>A r.(?) p.(Pro181=) Unknown - likely benign g.153596289C>T - FLNA(NM_001110556.2):c.543G>A (p.P181=), FLNA(NM_001456.3):c.543G>A (p.P181=) - FLNA_000375 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.544C>T r.(?) p.(Gln182*) Maternal (confirmed) - pathogenic g.153596288G>A g.154367920G>A - - FLNA_000007 - PubMed: Fox 1998, OMIM:var0001 - - Germline - - - 0 - DNA SSCA - - PVNH-1 - PubMed: Huttenlocher 1994, PubMed: Fox 1998 son of 09883725.Fam1-IV.3 M - (United States) - - 0 - - 1 Yu Sun
+/. 3 c.544C>T r.(?) p.(Gln182*) Maternal (confirmed) - pathogenic g.153596288G>A g.154367920G>A - - FLNA_000007 RNA blood X-inactivation random; de novo, in patient (maternal allele) PubMed: Fox 1998, OMIM:var0001 - - De novo - - - 0 - DNA SSCA - - PVNH-1 - PubMed: Huttenlocher 1994, PubMed: Fox 1998 mother of 09883725.Fam1-IV.2 and IV.3, unaffected parents F - (United States) - - 0 - - 1 Yu Sun
+/. 3 c.544C>T r.(?) p.(Gln182*) Maternal (confirmed) - pathogenic g.153596288G>A g.154367920G>A - - FLNA_000007 - PubMed: Fox 1998, OMIM:var0001 - - Germline - - - 0 - DNA SSCA - - PVNH-1 - PubMed: Huttenlocher 1994, PubMed: Fox 1998 daugther of 09883725.Fam1-III.10 F - (United States) - - 0 - - 1 Yu Sun
+/. 3 c.544C>T r.(?) p.(Gln182*) Maternal (confirmed) - pathogenic g.153596288G>A g.154367920G>A - - FLNA_000007 - PubMed: Fox 1998, OMIM:var0001 - - Germline - - - 0 - DNA SSCA - - PVNH-1 - PubMed: Huttenlocher 1994, PubMed: Fox 1998 daugther of 09883725.Fam1-III.10 F - (United States) - - 0 - - 1 Yu Sun
+/. 3 c.544C>T r.(?) p.(Gln182*) Maternal (confirmed) - pathogenic g.153596288G>A g.154367920G>A - - FLNA_000007 RNA blood X-inactivation uninformative PubMed: Fox 1998, OMIM:var0001 - - Germline - - - 0 - DNA SSCA - - PVNH-1 - PubMed: Huttenlocher 1994, PubMed: Fox 1998 daugther of 09883725.Fam1-IV.2 F - (United States) - - 0 - - 1 Yu Sun
+/. 3 c.544C>T r.(?) p.(Gln182*) Maternal (confirmed) - pathogenic g.153596288G>A g.154367920G>A - - FLNA_000007 - PubMed: Fox 1998, OMIM:var0001 - - Germline - - - 0 - DNA SSCA - - PVNH-1 - PubMed: Huttenlocher 1994, PubMed: Fox 1998 daugther of 09883725.Fam1-IV.3 F - (United States) - - 0 - - 1 Yu Sun
+/. 3 c.544C>T r.(?) p.(Gln182*) Maternal (confirmed) - pathogenic g.153596288G>A g.154367920G>A - - FLNA_000007 RNA blood X-inactivation preferentially expressed allele PubMed: Fox 1998, OMIM:var0001 - - Germline - - - 0 - DNA SSCA - - PVNH-1 - PubMed: Huttenlocher 1994, PubMed: Fox 1998 daugther of 09883725.Fam1-V.2 F - (United States) - - 0 - - 1 Yu Sun
-?/. - c.546G>C r.(?) p.(Gln182His) Unknown - likely benign g.153596286C>G g.154367918C>G FLNA(NM_001110556.2):c.546G>C (p.Q182H) - FLNA_000270 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 3 c.560A>G r.(?) p.(Asn187Ser) Maternal (confirmed) - likely pathogenic g.153596272T>C g.154367904T>C 153596304T>C - FLNA_000094 - - - - Germline yes - - 0 - DNA SEQ blood - OPD-2 - - - M no France - - 0 - - 1 Sébastien Moutton
+/. 3 c.586C>G r.(?) p.(Arg196Gly) Parent #1 - pathogenic g.153596246G>C g.154367878G>C - - FLNA_000075 - PubMed: Robertson 2003 - - Germline - - - 0 - DNA DHPLC - - OPD-2 - PubMed: Robertson 2003, PubMed: Andre 1981 - M - - - - 0 - - 2 Yu Sun
+/. 3 c.586C>T r.(?) p.(Arg196Trp) Parent #1 - pathogenic g.153596246G>A g.154367878G>A - - FLNA_000074 - PubMed: Robertson 2003, {OMIM300017.0026} - - Germline - - - 0 - DNA DHPLC - - OPD-1 - PubMed: Robertson 2003 - M - - - - 0 - - 1 Yu Sun
?/. - c.586C>T r.(?) p.(Arg196Trp) Parent #1 - VUS g.153596246G>A g.154367878G>A - - FLNA_000074 conflicting interpretations of pathogenicity; 6 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs137853317 Germline - 6/2764 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 6 Mohammed Faruq
+/. 3 c.598G>T r.(?) p.(Ala200Ser) Parent #1 - pathogenic g.153596234C>A g.154367866C>A - - FLNA_000071 - PubMed: Robertson 2003 - - Germline - - - 0 - DNA DHPLC - - OPD-2 - PubMed: Robertson 2003, PubMed: Verloes 2000 - M - - - - 0 - - 2 Yu Sun
+/. 3 c.607G>T r.(?) p.(Asp203Tyr) Maternal (confirmed) - pathogenic g.153596225C>A g.154367857C>A - - FLNA_000037 - PubMed: Hidalgo-Bravo 2005, OMIM:var0020 - - De novo - - - 0 - DNA SEQ - - OPD-1 - PubMed: Hidalgo-Bravo 2005 healthy parents and nine healthy siblings F - Mexico - - 0 - - 1 Yu Sun
+/. 3 c.620C>T r.(?) p.(Pro207Leu) Parent #1 - pathogenic g.153596212G>A g.154367844G>A - - FLNA_000021 - PubMed: Robertson 2003 - rs28935469 Germline - - - 0 - DNA DHPLC - - OPD-1 - PubMed: Robertson 2003, PubMed: Dudding 1967 - M - - - - 0 - - 2 Yu Sun
+/. 3 c.620C>T r.(?) p.(Pro207Leu) Parent #1 - pathogenic g.153596212G>A g.154367844G>A - - FLNA_000021 - PubMed: Robertson 2003 - rs28935469 Germline - - - 0 - DNA DHPLC - - OPD-1 - PubMed: Robertson 2003, PubMed: Biancalana 1991, PubMed: Le Marec - M - - - - 0 - - 3 Yu Sun
+/. 3 c.620C>T r.(?) p.(Pro207Leu) Maternal (confirmed) - pathogenic g.153596212G>A g.154367844G>A - - FLNA_000021 de novo, in patient PubMed: Robertson 2006 - rs28935469 De novo - - - 0 - DNA SEQ - - OPD-1 - PubMed: Robertson 2006 unaffected parents, 2 healthy siblings, affected brother; mother germline mosaic M - - - - 0 - - 1 Yu Sun
+/. 3 c.620C>T r.(?) p.(Pro207Leu) Maternal (confirmed) - pathogenic g.153596212G>A g.154367844G>A - - FLNA_000021 de novo, in patient PubMed: Robertson 2006, {OMIM300017.0009} - rs28935469 De novo - - - 0 - DNA SEQ - - OPD-1 - PubMed: Robertson 2006 unaffected parents, 2 healthy siblings, affected brother; mother germline mosaic M - - - - 0 - - 1 Yu Sun
+/. 3 c.620C>T r.(?) p.(Pro207Leu) Maternal (confirmed) - pathogenic g.153596212G>A g.154367844G>A - - FLNA_000021 - - - rs28935469 Germline yes - - 0 - DNA SEQ blood - OPD-1 - - - M no Martinique martinique - 0 - - 1 Sébastien Moutton
+/. 3 c.620C>T r.(?) p.(Pro207Leu) Maternal (confirmed) - likely pathogenic g.153596212G>A g.154367844G>A - - FLNA_000021 - - - rs28935469 Germline yes - - 0 - DNA SEQ blood - OPD-1 - - - M no Sweden - - 0 - - 1 Sébastien Moutton
+/. 3i c.623-3C>G r.spl? p.? Parent #1 - pathogenic g.153596109G>C g.154367741G>C IVS3-3C>G - FLNA_000009 de novo, in patient PubMed: Fox 1998, OMIM:var0003 - - De novo - - - 0 - DNA SSCA - - PVNH-1 - PubMed: Fox 1998 unaffected parents F - (United States) - - 0 - - 1 Yu Sun
+/. 4 c.629G>T r.(?) p.(Cys210Phe) Parent #1 - pathogenic g.153596100C>A g.154367732C>A - - FLNA_000054 - PubMed: Marino-Enriquez 2007 - - De novo - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Marino-Enriquez 2007 mother of 17431908.patiant 1 and 2 F - - - - 0 - - 1 Yu Sun
+/. 4 c.629G>T r.(?) p.(Cys210Phe) Maternal (confirmed) - pathogenic g.153596100C>A g.154367732C>A - - FLNA_000054 - PubMed: Marino-Enriquez 2007 - - Germline - - - 0 - DNA SEQ - - OPD-2 - PubMed: Marino-Enriquez 2007 - M - - - - 0 - - 1 Yu Sun
+/. 4 c.629G>T r.(?) p.(Cys210Phe) Maternal (confirmed) - pathogenic g.153596100C>A g.154367732C>A - - FLNA_000054 - PubMed: Marino-Enriquez 2007 - - Germline - - - 0 - DNA SEQ - - OPD-2 - PubMed: Marino-Enriquez 2007 - M - - - - 0 - - 1 Yu Sun
+/. - c.648G>A r.(?) p.(Trp216Ter) Unknown - pathogenic g.153596081C>T g.154367713C>T - - FLNA_000428 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.651C>T r.(=) p.(=) Unknown - VUS g.153596078G>A g.154367710G>A - - FLNA_000013 - - - rs34644500 Germline - - - 0 - DNA SEQ - - Healthy/Control - - - - - - - - 0 - - 1 Yu Sun
-?/. - c.651C>T r.(?) p.(Asp217=) Unknown - likely benign g.153596078G>A - FLNA(NM_001110556.2):c.651C>T (p.D217=) - FLNA_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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When using this database please refer to Sun et al. (2010), Terminal Osseous Dysplasia is caused by a single recurrent mutation in the FLNA gene. Am.J.Hum.Genet. 87: 146-153.