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Links from MedGen

Items: 36

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr3:58121841
GRCh38:
Chr3:58136114
FLNBP1603S, P1634SAtelosteogenesis type IPathogenic
(May 4, 2022)		criteria provided, single submitter
2.
GRCh37:
Chr3:58124133
GRCh38:
Chr3:58138406
FLNBAtelosteogenesis type III, Atelosteogenesis type I, Boomerang dysplasia,
Larsen syndrome, Spondylocarpotarsal synostosis syndrome, not provided
Likely benign
(Jul 5, 2022)		criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr3:58109421
GRCh38:
Chr3:58123694
FLNBnot provided, Larsen syndrome, Spondylocarpotarsal synostosis syndrome,
Atelosteogenesis type III, Atelosteogenesis type I, Boomerang dysplasia
Uncertain significance
(Dec 13, 2021)		criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr3:58120417
GRCh38:
Chr3:58134690
FLNBY1561C, Y1530CAtelosteogenesis type III, Larsen syndrome, Atelosteogenesis type I,
Boomerang dysplasia, not provided		Uncertain significance
(Feb 1, 2022)		criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr3:58121839
GRCh38:
Chr3:58136112
FLNBS1602Y, S1633YAtelosteogenesis type I, not providedUncertain significance
(Sep 27, 2022)		criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr3:58107100
GRCh38:
Chr3:58121373
FLNBR999QSpondylocarpotarsal synostosis syndrome, Larsen syndrome, Atelosteogenesis type III,
Boomerang dysplasia, Atelosteogenesis type I		Uncertain significance
(Mar 29, 2022)		criteria provided, single submitter
7.
GRCh37:
Chr3:58109018
GRCh38:
Chr3:58123291
FLNBV1109Inot provided, Larsen syndrome, Atelosteogenesis type III,
Atelosteogenesis type I, Spondylocarpotarsal synostosis syndrome, Boomerang dysplasia
Uncertain significance
(Aug 16, 2021)		criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr3:58140526
GRCh38:
Chr3:58154799
FLNBS2204G, S2246G, S2215G, S2191GAtelosteogenesis type IUncertain significance
(Oct 1, 2018)		criteria provided, single submitter
9.
GRCh37:
Chr3:58131746
GRCh38:
Chr3:58146019
FLNBF1818L, F1831L, F1842L, F1873LAtelosteogenesis type IUncertain significance
(Apr 20, 2018)		criteria provided, single submitter
10.
GRCh37:
Chr3:58080684
GRCh38:
Chr3:58094957
FLNBInborn genetic diseases, Atelosteogenesis type IConflicting interpretations of pathogenicity
(Feb 8, 2022)		criteria provided, conflicting interpretations
11.
GRCh37:
Chr3:58120413
GRCh38:
Chr3:58134686
FLNBS1529P, S1560PAtelosteogenesis type IUncertain significance
(Mar 11, 2020)		criteria provided, single submitter
12.
GRCh37:
Chr3:58109309
GRCh38:
Chr3:58123582
FLNBM1206VAtelosteogenesis type IUncertain significance
(Jun 26, 2020)		criteria provided, single submitter
13.
GRCh37:
Chr3:58109043
GRCh38:
Chr3:58123316
FLNBH1117RFLNB-Related Spectrum Disorders, Boomerang dysplasia, Spondylocarpotarsal synostosis syndrome,
Atelosteogenesis type III, Larsen syndrome, Atelosteogenesis type I
Uncertain significance
(Oct 8, 2021)		criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr3:58121860
GRCh38:
Chr3:58136133
FLNBT1609I, T1640IFLNB-Related Spectrum Disorders, Boomerang dysplasia, Spondylocarpotarsal synostosis syndrome,
Atelosteogenesis type III, Larsen syndrome, Atelosteogenesis type I
Uncertain significance
(Apr 2, 2022)		criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr3:58129322
GRCh38:
Chr3:58143595
FLNBM1792L, M1779L, M1834L, M1803LAtelosteogenesis type III, Spondylocarpotarsal synostosis syndrome, Larsen syndrome,
Atelosteogenesis type I, Boomerang dysplasia, not provided
Likely benign
(Aug 15, 2022)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr3:58121764
GRCh38:
Chr3:58136037
FLNBA1577V, A1608Vnot provided, Atelosteogenesis type I, Larsen syndrome,
Boomerang dysplasia, Spondylocarpotarsal synostosis syndrome, Atelosteogenesis type III
Conflicting interpretations of pathogenicity
(Sep 1, 2022)		criteria provided, conflicting interpretations
17.
GRCh37:
Chr3:58089790
GRCh38:
Chr3:58104063
FLNBG530WInborn genetic diseases, not provided, Spondylocarpotarsal synostosis syndrome,
Boomerang dysplasia, Larsen syndrome, Atelosteogenesis type III,
Atelosteogenesis type I		Conflicting interpretations of pathogenicity
(Oct 30, 2022)		criteria provided, conflicting interpretations
18.
GRCh37:
Chr3:58134405
GRCh38:
Chr3:58148678
FLNBE1973K, E2004K, E1949K, E1962KBoomerang dysplasia, Atelosteogenesis type I, Atelosteogenesis type III,
Spondylocarpotarsal synostosis syndrome, Larsen syndrome, FLNB-Related Spectrum Disorders
Uncertain significance
(Oct 6, 2021)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr3:58131638
GRCh38:
Chr3:58145911
FLNBConnective tissue disorder, FLNB-Related Spectrum Disorders, Larsen syndrome,
Atelosteogenesis type III, Spondylocarpotarsal synostosis syndrome, Atelosteogenesis type I,
Boomerang dysplasia, not provided, not specified
Benign/Likely benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr3:58109276
GRCh38:
Chr3:58123549
FLNBV1195Mnot provided, FLNB-Related Spectrum Disorders, Connective tissue disorder,
Larsen syndrome, Atelosteogenesis type III, Spondylocarpotarsal synostosis syndrome,
Atelosteogenesis type I, Boomerang dysplasia		Conflicting interpretations of pathogenicity
(Oct 19, 2022)		criteria provided, conflicting interpretations
21.
GRCh37:
Chr3:58097556
GRCh38:
Chr3:58111829
FLNBBoomerang dysplasia, Atelosteogenesis type I, Atelosteogenesis type III,
Spondylocarpotarsal synostosis syndrome, Larsen syndrome, not provided,
Connective tissue disorder, FLNB-Related Spectrum Disorders		Benign/Likely benign
(Oct 16, 2022)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr3:58092578
GRCh38:
Chr3:58106851
FLNBT640MFLNB-Related Spectrum Disorders, Larsen syndrome, Atelosteogenesis type III,
Spondylocarpotarsal synostosis syndrome, Atelosteogenesis type I, Boomerang dysplasia,
not provided, Connective tissue disorder, not specified
Benign/Likely benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr3:58067492
GRCh38:
Chr3:58081765
FLNBA259VFLNB-Related Spectrum Disorders, Atelosteogenesis type I, not provided,
Atelosteogenesis type III		Uncertain significance
(Sep 1, 2021)		criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr3:58118535
GRCh38:
Chr3:58132808
FLNBG1464A, G1495AFLNB-Related Spectrum Disorders, Larsen syndrome, Spondylocarpotarsal synostosis syndrome,
Atelosteogenesis type III, Atelosteogenesis type I, Boomerang dysplasia,
not provided		Uncertain significance
(Aug 19, 2022)		criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr3:58134505
GRCh38:
Chr3:58148778
FLNBK2006R, K2037R, K1982R, K1995RFLNB-Related Spectrum Disorders, Connective tissue disorder, Spondylocarpotarsal synostosis syndrome,
Atelosteogenesis type III, Larsen syndrome, Atelosteogenesis type I,
Boomerang dysplasia, not provided, not specified
Benign/Likely benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr3:57994591
GRCh38:
Chr3:58008864
FLNBFLNB-Related Spectrum Disorders, Connective tissue disorder, Spondylocarpotarsal synostosis syndrome,
Atelosteogenesis type III, Larsen syndrome, Atelosteogenesis type I,
Boomerang dysplasia, not provided, not specified
Benign/Likely benign
(Oct 23, 2022)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr3:58080583
GRCh38:
Chr3:58094856
FLNBM270VConnective tissue disorder, Inborn genetic diseases, Atelosteogenesis type III,
Atelosteogenesis type I, Larsen syndrome, Boomerang dysplasia,
Spondylocarpotarsal synostosis syndrome, FLNB-Related Spectrum Disorders, not specified,
not provided		Conflicting interpretations of pathogenicity
(Oct 7, 2022)		criteria provided, conflicting interpretations
28.
GRCh37:
Chr3:58062997
GRCh38:
Chr3:58077270
FLNBA173TAtelosteogenesis type IPathogenic
(Mar 1, 2014)		no assertion criteria provided
29.
GRCh37:
Chr3:58062992
GRCh38:
Chr3:58077265
FLNBL171QAtelosteogenesis type Inot providedno assertion provided
30.
GRCh37:
Chr3:58064510
GRCh38:
Chr3:58078783
FLNBQ203PAtelosteogenesis type Inot providedno assertion provided
31.
GRCh37:
Chr3:58064451
GRCh38:
Chr3:58078724
FLNBC183WAtelosteogenesis type Inot providedno assertion provided
32.
GRCh37:
Chr3:58064444
GRCh38:
Chr3:58078717
FLNBG181VAtelosteogenesis type Inot providedno assertion provided
33.
GRCh37:
Chr3:58121780-58121782
GRCh38:
Chr3:58136053-58136055
FLNBD1583del, D1614delAtelosteogenesis type Inot providedno assertion provided
34.
GRCh37:
Chr3:58062922
GRCh38:
Chr3:58077195
FLNBW148RAtelosteogenesis type Inot providedno assertion provided
35.
GRCh37:
Chr3:58064506
GRCh38:
Chr3:58078779
FLNBM202VAtelosteogenesis type III, Atelosteogenesis type IPathogenic
(Apr 1, 2004)		no assertion criteria provided
36.
GRCh37:
Chr3:58062998
GRCh38:
Chr3:58077271
FLNBA173Vnot providedPathogenic
(Jul 29, 2023)		criteria provided, single submitter
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