| - GRCh37:
- ChrX:153582759
- GRCh38:
- ChrX:154354391
| FLNA | | Cardiac valvular dysplasia, X-linked, FG syndrome 2, Oto-palato-digital syndrome, type I,
Oto-palato-digital syndrome, type II, Heterotopia, periventricular, X-linked dominant, Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked,
Terminal osseous dysplasia-pigmentary defects syndrome, Melnick-Needles syndrome, Frontometaphyseal dysplasia 1
| Uncertain significance
(May 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153586592
- GRCh38:
- ChrX:154358224
| FLNA | E1577G | FG syndrome 2, Terminal osseous dysplasia-pigmentary defects syndrome, Cardiac valvular dysplasia, X-linked,
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked, Oto-palato-digital syndrome, type I, Oto-palato-digital syndrome, type II,
Frontometaphyseal dysplasia 1, Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome,
not provided | Uncertain significance
(Mar 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153586697
- GRCh38:
- ChrX:154358329
| FLNA | T1542I | Heterotopia, periventricular, X-linked dominant, Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia,
Melnick-Needles syndrome, not specified, FG syndrome 2,
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked, Heterotopia, periventricular, X-linked dominant, Oto-palato-digital syndrome, type I,
Oto-palato-digital syndrome, type II, Terminal osseous dysplasia-pigmentary defects syndromeCardiac valvular dysplasia, X-linked,
Melnick-Needles syndrome, Frontometaphyseal dysplasia 1, ...see more | Conflicting interpretations of pathogenicity
(Jan 25, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:153590887
- GRCh38:
- ChrX:154362519
| FLNA | I822V | FG syndrome 2, Heterotopia, periventricular, X-linked dominant, Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked,
Terminal osseous dysplasia-pigmentary defects syndrome, Melnick-Needles syndrome, Frontometaphyseal dysplasia 1,
Cardiac valvular dysplasia, X-linked, Oto-palato-digital syndrome, type I, Oto-palato-digital syndrome, type II,
Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndromeOto-palato-digital syndrome, type II,
Frontometaphyseal dysplasia, ...see more | Uncertain significance
(Oct 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153591117
- GRCh38:
- ChrX:154362749
| FLNA | | Heterotopia, periventricular, X-linked dominant, Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia,
Melnick-Needles syndrome, Cardiac valvular dysplasia, X-linked, FG syndrome 2,
Terminal osseous dysplasia-pigmentary defects syndrome, Oto-palato-digital syndrome, type I, Heterotopia, periventricular, X-linked dominant,
Oto-palato-digital syndrome, type II, Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linkedMelnick-Needles syndrome,
Frontometaphyseal dysplasia 1, ...see more | Likely benign
(Sep 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153590676
- GRCh38:
- ChrX:154362308
| FLNA | V864F | Heterotopia, periventricular, X-linked dominant, Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia,
Melnick-Needles syndrome, Heterotopia, periventricular, X-linked dominant, Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked,
Oto-palato-digital syndrome, type I, Oto-palato-digital syndrome, type II, Cardiac valvular dysplasia, X-linked,
Melnick-Needles syndrome, FG syndrome 2Frontometaphyseal dysplasia 1,
Terminal osseous dysplasia-pigmentary defects syndrome, ...see more | Conflicting interpretations of pathogenicity
(Aug 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:153594935
- GRCh38:
- ChrX:154366567
| FLNA | H354Y | Heterotopia, periventricular, X-linked dominant, Oto-palato-digital syndrome, type II, Melnick-Needles syndrome,
Frontometaphyseal dysplasia, Familial thoracic aortic aneurysm and aortic dissection, FG syndrome 2,
Terminal osseous dysplasia-pigmentary defects syndrome, Frontometaphyseal dysplasia 1, Cardiac valvular dysplasia, X-linked,
Heterotopia, periventricular, X-linked dominant, Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linkedOto-palato-digital syndrome, type I,
Oto-palato-digital syndrome, type II, Melnick-Needles syndrome, not provided,
...see more | Uncertain significance
(Mar 26, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153591041
- GRCh38:
- ChrX:154362673
| FLNA | E798K | Frontometaphyseal dysplasia, Heterotopia, periventricular, X-linked dominant, Oto-palato-digital syndrome, type II,
Melnick-Needles syndrome, FG syndrome 2, Heterotopia, periventricular, X-linked dominant,
Oto-palato-digital syndrome, type I, Oto-palato-digital syndrome, type II, Cardiac valvular dysplasia, X-linked,
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked, Terminal osseous dysplasia-pigmentary defects syndromeMelnick-Needles syndrome,
Frontometaphyseal dysplasia 1, not provided, ...see more | Conflicting interpretations of pathogenicity
(Jul 11, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:153589902
- GRCh38:
- ChrX:154361534
| FLNA | K994R | FG syndrome 2, Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked, Cardiac valvular dysplasia, X-linked,
Melnick-Needles syndrome, Heterotopia, periventricular, X-linked dominant, Terminal osseous dysplasia-pigmentary defects syndrome,
Oto-palato-digital syndrome, type I, Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia 1,
Melnick-Needles syndrome, Frontometaphyseal dysplasiaHeterotopia, periventricular, X-linked dominant,
Oto-palato-digital syndrome, type II, ...see more | Conflicting interpretations of pathogenicity
(Aug 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:153583014
- GRCh38:
- ChrX:154354646
| FLNA | | Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia, Melnick-Needles syndrome,
Heterotopia, periventricular, X-linked dominant, FG syndrome 2, Terminal osseous dysplasia-pigmentary defects syndrome,
Cardiac valvular dysplasia, X-linked, Oto-palato-digital syndrome, type I, Oto-palato-digital syndrome, type II,
Frontometaphyseal dysplasia 1, Melnick-Needles syndromeHeterotopia, periventricular, X-linked dominant,
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked, ...see more | Likely benign
(Sep 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153593194
- GRCh38:
- ChrX:154364826
| FLNA | T608M | not provided, Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia,
Melnick-Needles syndrome, Heterotopia, periventricular, X-linked dominant, Oto-palato-digital syndrome, type I,
Oto-palato-digital syndrome, type II, Cardiac valvular dysplasia, X-linked, Terminal osseous dysplasia-pigmentary defects syndrome,
Frontometaphyseal dysplasia 1, FG syndrome 2Melnick-Needles syndrome,
Heterotopia, periventricular, X-linked dominant, Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked, ...see more | Uncertain significance
(Sep 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153596338
- GRCh38:
- ChrX:154367970
| FLNA | K165R | not provided, Cardiac valvular dysplasia, X-linked, Melnick-Needles syndrome,
Frontometaphyseal dysplasia 1, FG syndrome 2, Oto-palato-digital syndrome, type I,
Heterotopia, periventricular, X-linked dominant, Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked, Oto-palato-digital syndrome, type II,
Terminal osseous dysplasia-pigmentary defects syndrome | Uncertain significance
(Mar 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153594700
- GRCh38:
- ChrX:154366332
| FLNA | T402A | Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked, Melnick-Needles syndrome, FG syndrome 2,
Frontometaphyseal dysplasia 1, Heterotopia, periventricular, X-linked dominant, Oto-palato-digital syndrome, type I,
Oto-palato-digital syndrome, type II, Terminal osseous dysplasia-pigmentary defects syndrome, Cardiac valvular dysplasia, X-linked
| Uncertain significance
(Mar 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153591069
- GRCh38:
- ChrX:154362701
| FLNA | | Melnick-Needles syndrome, Heterotopia, periventricular, X-linked dominant, Frontometaphyseal dysplasia,
Oto-palato-digital syndrome, type II, Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked, Melnick-Needles syndrome,
FG syndrome 2, Frontometaphyseal dysplasia 1, Heterotopia, periventricular, X-linked dominant,
Oto-palato-digital syndrome, type I, Oto-palato-digital syndrome, type IITerminal osseous dysplasia-pigmentary defects syndrome,
Cardiac valvular dysplasia, X-linked, Familial thoracic aortic aneurysm and aortic dissection, not provided,
...see more | Likely benign
(Sep 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153587512
- GRCh38:
- ChrX:154359144
| FLNA | F1438L | Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked, Melnick-Needles syndrome, FG syndrome 2,
Frontometaphyseal dysplasia 1, Heterotopia, periventricular, X-linked dominant, Oto-palato-digital syndrome, type I,
Oto-palato-digital syndrome, type II, Terminal osseous dysplasia-pigmentary defects syndrome, Cardiac valvular dysplasia, X-linked
| Uncertain significance
(Mar 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153594551
- GRCh38:
- ChrX:154366183
| FLNA | M424V | Melnick-Needles syndrome, Cardiac valvular dysplasia, X-linked, FG syndrome 2,
Frontometaphyseal dysplasia 1, Heterotopia, periventricular, X-linked dominant, Oto-palato-digital syndrome, type I,
Oto-palato-digital syndrome, type II, Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked, Terminal osseous dysplasia-pigmentary defects syndrome,
Familial thoracic aortic aneurysm and aortic dissection, Melnick-Needles syndromeHeterotopia, periventricular, X-linked dominant,
Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia, not provided,
...see more | Conflicting interpretations of pathogenicity
(Mar 10, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:153589909
- GRCh38:
- ChrX:154361541
| FLNA | T992A | Melnick-Needles syndrome, Cardiac valvular dysplasia, X-linked, FG syndrome 2,
Frontometaphyseal dysplasia 1, Heterotopia, periventricular, X-linked dominant, Oto-palato-digital syndrome, type I,
Oto-palato-digital syndrome, type II, Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked, Terminal osseous dysplasia-pigmentary defects syndrome,
Familial thoracic aortic aneurysm and aortic dissection, Melnick-Needles syndromeHeterotopia, periventricular, X-linked dominant,
Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia, ...see more | Conflicting interpretations of pathogenicity
(Jul 20, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:153594976
- GRCh38:
- ChrX:154366608
| FLNA | R340H | Melnick-Needles syndrome, Cardiac valvular dysplasia, X-linked, FG syndrome 2,
Frontometaphyseal dysplasia 1, Heterotopia, periventricular, X-linked dominant, Oto-palato-digital syndrome, type I,
Oto-palato-digital syndrome, type II, Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked, Terminal osseous dysplasia-pigmentary defects syndrome,
Familial thoracic aortic aneurysm and aortic dissection | Uncertain significance
(Sep 21, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153581143
- GRCh38:
- ChrX:154352775
| FLNA | P2118S, P2126S | Heterotopia, periventricular, X-linked dominant, Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia,
Melnick-Needles syndrome, Heterotopia, periventricular, X-linked dominant, Oto-palato-digital syndrome, type I,
Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia 1, Cardiac valvular dysplasia, X-linked,
Melnick-Needles syndrome, FG syndrome 2Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked,
Terminal osseous dysplasia-pigmentary defects syndrome, not provided, ...see more | Conflicting interpretations of pathogenicity
(Jun 16, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:153578406
- GRCh38:
- ChrX:154350038
| FLNA | | Oto-palato-digital syndrome, type II, Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome,
Frontometaphyseal dysplasia, FG syndrome 2, Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked,
Cardiac valvular dysplasia, X-linked, Terminal osseous dysplasia-pigmentary defects syndrome, Oto-palato-digital syndrome, type I,
Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia 1Heterotopia, periventricular, X-linked dominant,
Melnick-Needles syndrome, not specified, ...see more | Likely benign
(Aug 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153587349
- GRCh38:
- ChrX:154358981
| FLNA | | not provided, FG syndrome 2, Frontometaphyseal dysplasia 1,
Cardiac valvular dysplasia, X-linked, Heterotopia, periventricular, X-linked dominant, Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked,
Melnick-Needles syndrome, Oto-palato-digital syndrome, type I, Oto-palato-digital syndrome, type II,
Terminal osseous dysplasia-pigmentary defects syndrome, Heterotopia, periventricular, X-linked dominantMelnick-Needles syndrome,
Frontometaphyseal dysplasia, Oto-palato-digital syndrome, type II, ...see more | Uncertain significance
(Jan 17, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153592001
- GRCh38:
- ChrX:154363633
| FLNA | | Heterotopia, periventricular, X-linked dominant, Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked | Pathogenic | no assertion criteria provided |
| - GRCh37:
- ChrX:153599595-153599596
- GRCh38:
- ChrX:154371227-154371228
| FLNA | R7fs | Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked, Congenital short bowel syndrome, X-linked | Pathogenic
(Apr 1, 2013) | no assertion criteria provided |
| - GRCh37:
- ChrX:153580296
- GRCh38:
- ChrX:154351928
| FLNA | R2280H, R2288H | Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Oto-palato-digital syndrome, type II,
Frontometaphyseal dysplasia, not specified, Familial thoracic aortic aneurysm and aortic dissection,
Cardiac valvular dysplasia, X-linked, FG syndrome 2, Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked,
Frontometaphyseal dysplasia 1, Heterotopia, periventricular, X-linked dominantMelnick-Needles syndrome,
Oto-palato-digital syndrome, type I, Oto-palato-digital syndrome, type II, Terminal osseous dysplasia-pigmentary defects syndrome,
...see more | Conflicting interpretations of pathogenicity
(Jul 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:153588493
- GRCh38:
- ChrX:154360125
| FLNA | L1224F | Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia, Heterotopia, periventricular, X-linked dominant,
Melnick-Needles syndrome, Cardiac valvular dysplasia, X-linked, Oto-palato-digital syndrome, type I,
Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia 1, FG syndrome 2,
Terminal osseous dysplasia-pigmentary defects syndrome, Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linkedHeterotopia, periventricular, X-linked dominant,
Melnick-Needles syndrome, ...see more | Uncertain significance
(Oct 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153590381
- GRCh38:
- ChrX:154362013
| FLNA | N931I | Frontometaphyseal dysplasia 1, Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome,
Oto-palato-digital syndrome, type II, Cardiac valvular dysplasia, X-linked, FG syndrome 2,
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked, Frontometaphyseal dysplasia 1, Heterotopia, periventricular, X-linked dominant,
Melnick-Needles syndrome, Oto-palato-digital syndrome, type IOto-palato-digital syndrome, type II,
Terminal osseous dysplasia-pigmentary defects syndrome, ...see more | Uncertain significance
(Nov 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153580593
- GRCh38:
- ChrX:154352225
| FLNA | R2234Q, R2242Q | FG syndrome 2, Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome,
Terminal osseous dysplasia-pigmentary defects syndrome, Cardiac valvular dysplasia, X-linked, Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked,
Oto-palato-digital syndrome, type I, Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia 1,
Familial thoracic aortic aneurysm and aortic dissection, Heterotopia, periventricular, X-linked dominantMelnick-Needles syndrome,
Frontometaphyseal dysplasia, Oto-palato-digital syndrome, type II, not specified,
...see more | Conflicting interpretations of pathogenicity
(Aug 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:153592416
- GRCh38:
- ChrX:154364048
| FLNA | V752I | Cardiac valvular dysplasia, X-linked, Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked, Frontometaphyseal dysplasia 1,
Terminal osseous dysplasia-pigmentary defects syndrome, Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome,
FG syndrome 2, Oto-palato-digital syndrome, type I, Oto-palato-digital syndrome, type II,
not provided, Heterotopia, periventricular, X-linked dominantMelnick-Needles syndrome,
Frontometaphyseal dysplasia, Oto-palato-digital syndrome, type II, Familial thoracic aortic aneurysm and aortic dissection,
...see more | Uncertain significance
(Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153593614
- GRCh38:
- ChrX:154365246
| FLNA | | not provided, Familial thoracic aortic aneurysm and aortic dissection, Melnick-Needles syndrome,
Frontometaphyseal dysplasia, Heterotopia, periventricular, X-linked dominant, Oto-palato-digital syndrome, type II,
Cardiac valvular dysplasia, X-linked, Melnick-Needles syndrome, Frontometaphyseal dysplasia 1,
FG syndrome 2, Oto-palato-digital syndrome, type IHeterotopia, periventricular, X-linked dominant,
Oto-palato-digital syndrome, type II, Terminal osseous dysplasia-pigmentary defects syndrome, Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked,
...see more | Benign/Likely benign
(Oct 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153577858
- GRCh38:
- ChrX:154349490
| FLNA, LOC107988032 | C2535Y, C2543Y | FG syndrome 2, Cardiac valvular dysplasia, X-linked, Heterotopia, periventricular, X-linked dominant,
Oto-palato-digital syndrome, type I, Oto-palato-digital syndrome, type II, Terminal osseous dysplasia-pigmentary defects syndrome,
Melnick-Needles syndrome, Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked, Frontometaphyseal dysplasia 1,
not specified, Heterotopia, periventricular, X-linked dominantOto-palato-digital syndrome, type II,
Melnick-Needles syndrome, Frontometaphyseal dysplasia, Familial thoracic aortic aneurysm and aortic dissection,
not provided, ...see more | Conflicting interpretations of pathogenicity
(Oct 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:153585839
- GRCh38:
- ChrX:154357471
| FLNA | | Melnick-Needles syndrome, Oto-palato-digital syndrome, type II, Heterotopia, periventricular, X-linked dominant,
Frontometaphyseal dysplasia, not provided, not specified,
Familial thoracic aortic aneurysm and aortic dissection, Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked, Melnick-Needles syndrome,
Terminal osseous dysplasia-pigmentary defects syndrome, Frontometaphyseal dysplasia 1FG syndrome 2,
Cardiac valvular dysplasia, X-linked, Oto-palato-digital syndrome, type I, Oto-palato-digital syndrome, type II,
Heterotopia, periventricular, X-linked dominant, ...see more | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153593574
- GRCh38:
- ChrX:154365206
| FLNA | E541K | Heterotopia, periventricular, X-linked dominant, Frontometaphyseal dysplasia, Melnick-Needles syndrome,
Oto-palato-digital syndrome, type II, not provided, Familial thoracic aortic aneurysm and aortic dissection,
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked | Conflicting interpretations of pathogenicity
(Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:153590941
- GRCh38:
- ChrX:154362573
| FLNA | V804I | Heterotopia, periventricular, X-linked dominant, Frontometaphyseal dysplasia, Melnick-Needles syndrome,
Oto-palato-digital syndrome, type II, Cardiac valvular dysplasia, X-linked, Terminal osseous dysplasia-pigmentary defects syndrome,
FG syndrome 2, Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome,
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked, Oto-palato-digital syndrome, type IOto-palato-digital syndrome, type II,
Frontometaphyseal dysplasia 1, not provided, ...see more | Uncertain significance
(Sep 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153596263
- GRCh38:
- ChrX:154367895
| FLNA | R190Q | Heterotopia, periventricular, X-linked dominant, Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked, Cardiac valvular dysplasia, X-linked,
Terminal osseous dysplasia-pigmentary defects syndrome, FG syndrome 2, Melnick-Needles syndrome,
Oto-palato-digital syndrome, type I, Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia 1,
Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndromeFrontometaphyseal dysplasia,
Oto-palato-digital syndrome, type II, not provided, ...see more | Conflicting interpretations of pathogenicity
(Jul 18, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:153578465
- GRCh38:
- ChrX:154350097
| FLNA | P2415S, P2423S | Heterotopia, periventricular, X-linked dominant, Frontometaphyseal dysplasia, Melnick-Needles syndrome,
Oto-palato-digital syndrome, type II, Connective tissue disorder, Cardiac valvular dysplasia, X-linked,
Terminal osseous dysplasia-pigmentary defects syndrome, FG syndrome 2, Heterotopia, periventricular, X-linked dominant,
Melnick-Needles syndrome, Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linkedOto-palato-digital syndrome, type I,
Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia 1, not provided,
not specified, Familial thoracic aortic aneurysm and aortic dissection, ...see more | Benign/Likely benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153581169
- GRCh38:
- ChrX:154352801
| FLNA | N2109S, N2117S | History of neurodevelopmental disorder, Cardiovascular phenotype, Heterotopia, periventricular, X-linked dominant,
Frontometaphyseal dysplasia, Melnick-Needles syndrome, Oto-palato-digital syndrome, type II,
Cardiac valvular dysplasia, X-linked, Terminal osseous dysplasia-pigmentary defects syndrome, FG syndrome 2,
Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndromeIntestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked,
Oto-palato-digital syndrome, type I, Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia 1,
not specified, not provided, ...see more | Likely benign
(Jul 21, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153588742
- GRCh38:
- ChrX:154360374
| FLNA | A1141T | Connective tissue disorder, Heterotopia, periventricular, X-linked dominant, Frontometaphyseal dysplasia,
Melnick-Needles syndrome, Oto-palato-digital syndrome, type II, Cardiac valvular dysplasia, X-linked,
Terminal osseous dysplasia-pigmentary defects syndrome, FG syndrome 2, Heterotopia, periventricular, X-linked dominant,
Melnick-Needles syndrome, Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linkedOto-palato-digital syndrome, type I,
Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia 1, not provided,
Familial thoracic aortic aneurysm and aortic dissection, ...see more | Benign/Likely benign
(Apr 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153588776
- GRCh38:
- ChrX:154360408
| FLNA | | Familial thoracic aortic aneurysm and aortic dissection, FG syndrome 2, Terminal osseous dysplasia-pigmentary defects syndrome,
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked, Cardiac valvular dysplasia, X-linked, Oto-palato-digital syndrome, type I,
Oto-palato-digital syndrome, type II, Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome,
Frontometaphyseal dysplasia 1, Frontometaphyseal dysplasiaOto-palato-digital syndrome, type II,
Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, not specified,
not provided, ...see more | Benign/Likely benign
(Jul 21, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153589662
- GRCh38:
- ChrX:154361294
| FLNA | | not specified, Heterotopia, periventricular, X-linked dominant, Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked,
Cardiac valvular dysplasia, X-linked, Terminal osseous dysplasia-pigmentary defects syndrome, FG syndrome 2,
Melnick-Needles syndrome, Oto-palato-digital syndrome, type I, Oto-palato-digital syndrome, type II,
Frontometaphyseal dysplasia 1, Heterotopia, periventricular, X-linked dominantMelnick-Needles syndrome,
Frontometaphyseal dysplasia, Oto-palato-digital syndrome, type II, ...see more | Benign/Likely benign
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153590835
- GRCh38:
- ChrX:154362467
| FLNA | T839M | Heterotopia, periventricular, X-linked dominant, Frontometaphyseal dysplasia, Melnick-Needles syndrome,
Oto-palato-digital syndrome, type II, Cardiac valvular dysplasia, X-linked, Terminal osseous dysplasia-pigmentary defects syndrome,
FG syndrome 2, Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome,
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked, Oto-palato-digital syndrome, type IOto-palato-digital syndrome, type II,
Frontometaphyseal dysplasia 1, not provided, Familial thoracic aortic aneurysm and aortic dissection,
...see more | Benign/Likely benign
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153580599
- GRCh38:
- ChrX:154352231
| FLNA | K2232R, K2240R | not specified, Heterotopia, periventricular, X-linked dominant, Inborn genetic diseases,
Heterotopia, periventricular, X-linked dominant, Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked, Cardiac valvular dysplasia, X-linked,
Terminal osseous dysplasia-pigmentary defects syndrome, FG syndrome 2, Melnick-Needles syndrome,
Oto-palato-digital syndrome, type I, Oto-palato-digital syndrome, type IIFrontometaphyseal dysplasia 1,
Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Frontometaphyseal dysplasia,
Oto-palato-digital syndrome, type II, not provided, ...see more | Conflicting interpretations of pathogenicity
(Sep 7, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:153586894
- GRCh38:
- ChrX:154358526
| FLNA | T1506I | Heterotopia, periventricular, X-linked dominant, Frontometaphyseal dysplasia, Melnick-Needles syndrome,
Oto-palato-digital syndrome, type II, Cardiac valvular dysplasia, X-linked, Terminal osseous dysplasia-pigmentary defects syndrome,
FG syndrome 2, Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome,
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked, Oto-palato-digital syndrome, type IOto-palato-digital syndrome, type II,
Frontometaphyseal dysplasia 1, not specified, ...see more | Conflicting interpretations of pathogenicity
(Sep 2, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:153595186
- GRCh38:
- ChrX:154366818
| FLNA | R301W | Heterotopia, periventricular, X-linked dominant, Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia,
Melnick-Needles syndrome, Terminal osseous dysplasia-pigmentary defects syndrome, Frontometaphyseal dysplasia 1,
Cardiac valvular dysplasia, X-linked, Heterotopia, periventricular, X-linked dominant, Oto-palato-digital syndrome, type I,
Oto-palato-digital syndrome, type II, Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linkedMelnick-Needles syndrome,
FG syndrome 2, not specified, not provided,
Familial thoracic aortic aneurysm and aortic dissection, ...see more | Conflicting interpretations of pathogenicity
(Jul 10, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:153577951
- GRCh38:
- ChrX:154349583
| FLNA | | Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Oto-palato-digital syndrome, type II,
Frontometaphyseal dysplasia, Heterotopia, periventricular, X-linked dominant, Oto-palato-digital syndrome, type I,
Cardiac valvular dysplasia, X-linked, Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked, Melnick-Needles syndrome,
Oto-palato-digital syndrome, type II, FG syndrome 2Terminal osseous dysplasia-pigmentary defects syndrome,
Frontometaphyseal dysplasia 1, not specified, not provided,
...see more | Benign
(Jul 21, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153577722
- GRCh38:
- ChrX:154349354
| FLNA, LOC107988032 | | Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Oto-palato-digital syndrome, type II,
Frontometaphyseal dysplasia, Connective tissue disorder, Heterotopia, periventricular, X-linked dominant,
Oto-palato-digital syndrome, type I, Cardiac valvular dysplasia, X-linked, Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked,
Melnick-Needles syndrome, Oto-palato-digital syndrome, type IIFG syndrome 2,
Terminal osseous dysplasia-pigmentary defects syndrome, Frontometaphyseal dysplasia 1, not specified,
not provided, ...see more | Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153588473
- GRCh38:
- ChrX:154360105
| FLNA | | Melnick-Needles syndrome, Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia,
Heterotopia, periventricular, X-linked dominant, History of neurodevelopmental disorder, Cardiovascular phenotype,
Cardiac valvular dysplasia, X-linked, Melnick-Needles syndrome, Terminal osseous dysplasia-pigmentary defects syndrome,
Oto-palato-digital syndrome, type I, Oto-palato-digital syndrome, type IIIntestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked,
FG syndrome 2, Frontometaphyseal dysplasia 1, Heterotopia, periventricular, X-linked dominant,
not specified, not provided, ...see more | Benign/Likely benign
(Jul 21, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153594728
- GRCh38:
- ChrX:154366360
| FLNA | | Melnick-Needles syndrome, Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia,
Heterotopia, periventricular, X-linked dominant, Connective tissue disorder, History of neurodevelopmental disorder,
Cardiovascular phenotype, Cardiac valvular dysplasia, X-linked, Melnick-Needles syndrome,
Terminal osseous dysplasia-pigmentary defects syndrome, Oto-palato-digital syndrome, type IOto-palato-digital syndrome, type II,
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked, FG syndrome 2, Frontometaphyseal dysplasia 1,
Heterotopia, periventricular, X-linked dominant, not specified, not provided,
...see more | Benign/Likely benign
(Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153595205
- GRCh38:
- ChrX:154366837
| FLNA | | Cardiovascular phenotype, not specified, not provided,
Frontometaphyseal dysplasia, Oto-palato-digital syndrome, type II, Melnick-Needles syndrome,
Heterotopia, periventricular, X-linked dominant, Cardiac valvular dysplasia, X-linked, FG syndrome 2,
Oto-palato-digital syndrome, type I, Oto-palato-digital syndrome, type IIMelnick-Needles syndrome,
Heterotopia, periventricular, X-linked dominant, Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked, Terminal osseous dysplasia-pigmentary defects syndrome,
Frontometaphyseal dysplasia 1, History of neurodevelopmental disorder, ...see more | Benign
(Jul 21, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153581714
- GRCh38:
- ChrX:154353346
| FLNA | S1991L | Cardiovascular phenotype, not specified, Frontometaphyseal dysplasia,
Oto-palato-digital syndrome, type II, Melnick-Needles syndrome, Heterotopia, periventricular, X-linked dominant,
Cardiac valvular dysplasia, X-linked, FG syndrome 2, Oto-palato-digital syndrome, type I,
Oto-palato-digital syndrome, type II, Melnick-Needles syndromeHeterotopia, periventricular, X-linked dominant,
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked, Terminal osseous dysplasia-pigmentary defects syndrome, Frontometaphyseal dysplasia 1,
History of neurodevelopmental disorder, Connective tissue disorder, not provided,
...see more | Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153588840
- GRCh38:
- ChrX:154360472
| FLNA | C1108Y | Frontometaphyseal dysplasia, Oto-palato-digital syndrome, type II, Melnick-Needles syndrome,
Heterotopia, periventricular, X-linked dominant, Cardiac valvular dysplasia, X-linked, FG syndrome 2,
Oto-palato-digital syndrome, type I, Oto-palato-digital syndrome, type II, Melnick-Needles syndrome,
Heterotopia, periventricular, X-linked dominant, Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linkedTerminal osseous dysplasia-pigmentary defects syndrome,
Frontometaphyseal dysplasia 1, not provided, not specified,
...see more | Conflicting interpretations of pathogenicity
(Apr 20, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:153589848
- GRCh38:
- ChrX:154361480
| FLNA | S1012L | Cardiovascular phenotype, Frontometaphyseal dysplasia, Oto-palato-digital syndrome, type II,
Melnick-Needles syndrome, Heterotopia, periventricular, X-linked dominant, Cardiac valvular dysplasia, X-linked,
FG syndrome 2, Oto-palato-digital syndrome, type I, Oto-palato-digital syndrome, type II,
Melnick-Needles syndrome, Heterotopia, periventricular, X-linked dominantIntestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked,
Terminal osseous dysplasia-pigmentary defects syndrome, Frontometaphyseal dysplasia 1, not specified,
History of neurodevelopmental disorder, Connective tissue disorder, not provided,
...see more | Benign/Likely benign
(Jul 21, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153594535
- GRCh38:
- ChrX:154366167
| FLNA | T429M | Cardiovascular phenotype, Frontometaphyseal dysplasia, Oto-palato-digital syndrome, type II,
Melnick-Needles syndrome, Heterotopia, periventricular, X-linked dominant, Cardiac valvular dysplasia, X-linked,
FG syndrome 2, Oto-palato-digital syndrome, type I, Oto-palato-digital syndrome, type II,
Melnick-Needles syndrome, Heterotopia, periventricular, X-linked dominantIntestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked,
Terminal osseous dysplasia-pigmentary defects syndrome, Frontometaphyseal dysplasia 1, not specified,
History of neurodevelopmental disorder, not provided, ...see more | Benign/Likely benign
(Jul 21, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153599546-153599547
- GRCh38:
- ChrX:154371178-154371179
| FLNA | T23fs | Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked | Pathogenic
(Apr 1, 2007) | no assertion criteria provided |