| NM_001110556.2(FLNA):c.217G>C (p.Asp73His) |
single nucleotide variant |
not specified [RCV000521342] |
ChrX:154371029 [GRCh38]
ChrX:153599397 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6891T>C (p.Tyr2297=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004023994]|Heterotopia, periventricular, X-linked dominant [RCV002231784] |
ChrX:154351900 [GRCh38]
ChrX:153580268 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4017C>T (p.Pro1339=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002358504]|Heterotopia, periventricular, X-linked dominant [RCV002232259]|not provided [RCV000841575] |
ChrX:154359609 [GRCh38]
ChrX:153587977 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6612C>T (p.Pro2204=) |
single nucleotide variant |
FLNA-related disorder [RCV004541606]|Familial thoracic aortic aneurysm and aortic dissection [RCV003278861]|Heterotopia, periventricular, X-linked dominant [RCV000527230]|not provided [RCV001548144]|not specified [RCV000517950] |
ChrX:154352338 [GRCh38]
ChrX:153580706 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5138C>T (p.Thr1713Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004023535]|Heterotopia, periventricular, X-linked dominant [RCV001084701]|not provided [RCV000520883] |
ChrX:154354904 [GRCh38]
ChrX:153583272 [GRCh37]
ChrX:Xq28 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.3670C>T (p.Leu1224Phe) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV002491015]|Heterotopia, periventricular, X-linked dominant [RCV002232257] |
ChrX:154360125 [GRCh38]
ChrX:153588493 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7544A>G (p.Lys2515Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002232269] |
ChrX:154349657 [GRCh38]
ChrX:153578025 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.5713C>T (p.Pro1905Ser) |
single nucleotide variant |
not provided [RCV000522974] |
ChrX:154353701 [GRCh38]
ChrX:153582069 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.999_1008dup (p.Asp337delinsArgGlnTer) |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV002232270] |
ChrX:154366618..154366619 [GRCh38]
ChrX:153594986..153594987 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.6503-9A>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000550805]|not provided [RCV001579613] |
ChrX:154352456 [GRCh38]
ChrX:153580824 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.428C>T (p.Thr143Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003989552]|not provided [RCV000521507] |
ChrX:154368036 [GRCh38]
ChrX:153596404 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7779_7780insTTCGGGG (p.Val2594fs) |
microsatellite |
Heterotopia, periventricular, X-linked dominant [RCV000536029]|not provided [RCV000521545] |
ChrX:154349013..154349014 [GRCh38]
ChrX:153577381..153577382 [GRCh37]
ChrX:Xq28 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001110556.2(FLNA):c.2023-6_2023-5insA |
insertion |
not provided [RCV000520052] |
ChrX:154364377..154364378 [GRCh38]
ChrX:153592745..153592746 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.3552C>A (p.Asp1184Glu) |
single nucleotide variant |
Melnick-Needles syndrome [RCV000020424] |
ChrX:154360243 [GRCh38]
ChrX:153588611 [GRCh37]
ChrX:Xq28 |
pathogenic|not provided |
| NM_001110556.2(FLNA):c.7896G>A (p.Trp2632Ter) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000022819] |
ChrX:154348897 [GRCh38]
ChrX:153577265 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.6327del (p.Glu2110fs) |
deletion |
not provided [RCV000729772] |
ChrX:154352824 [GRCh38]
ChrX:153581192 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.3112G>A (p.Glu1038Lys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002233046]|not provided [RCV004777791] |
ChrX:154361403 [GRCh38]
ChrX:153589771 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.1938C>T (p.His646=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002406385]|Heterotopia, periventricular, X-linked dominant [RCV001511135] |
ChrX:154364610 [GRCh38]
ChrX:153592978 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.7023+10C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000640764] |
ChrX:154351571 [GRCh38]
ChrX:153579939 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.4344G>A (p.Ala1448=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003362871]|Heterotopia, periventricular, X-linked dominant [RCV000640766]|not provided [RCV001731832] |
ChrX:154359114 [GRCh38]
ChrX:153587482 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2313G>A (p.Lys771=) |
single nucleotide variant |
Connective tissue disorder [RCV000659659]|FLNA-related disorder [RCV004735695]|Familial thoracic aortic aneurysm and aortic dissection [RCV002449007]|Heterotopia, periventricular, X-linked dominant [RCV002533250] |
ChrX:154362752 [GRCh38]
ChrX:153591120 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.2706T>C (p.Ala902=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003303029]|Heterotopia, periventricular, X-linked dominant [RCV002529992] |
ChrX:154362099 [GRCh38]
ChrX:153590467 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7164T>C (p.Tyr2388=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002233490] |
ChrX:154350200 [GRCh38]
ChrX:153578568 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5069C>T (p.Thr1690Met) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001862119]|not provided [RCV000722508] |
ChrX:154354973 [GRCh38]
ChrX:153583341 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.3769G>A (p.Gly1257Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002232258]|not provided [RCV004772968] |
ChrX:154360026 [GRCh38]
ChrX:153588394 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.2281-6C>T |
single nucleotide variant |
not provided [RCV000728400] |
ChrX:154362790 [GRCh38]
ChrX:153591158 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7555C>T (p.Pro2519Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002395382]|Heterotopia, periventricular, X-linked dominant [RCV000560750]|not provided [RCV001556338] |
ChrX:154349563 [GRCh38]
ChrX:153577931 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.2826+4G>A |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002438370]|Heterotopia, periventricular, X-linked dominant [RCV000547401] |
ChrX:154361975 [GRCh38]
ChrX:153590343 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7817_7820del (p.Val2606fs) |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV002231785] |
ChrX:154348973..154348976 [GRCh38]
ChrX:153577341..153577344 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5861-9C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000543067] |
ChrX:154353466 [GRCh38]
ChrX:153581834 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.537G>C (p.Lys179Asn) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002231781]|Oto-palato-digital syndrome, type II [RCV002232265] |
ChrX:154367927 [GRCh38]
ChrX:153596295 [GRCh37]
ChrX:Xq28 |
likely pathogenic|uncertain significance |
| NM_001110556.2(FLNA):c.7365C>G (p.Ser2455Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000555130]|not specified [RCV000606289] |
ChrX:154349836 [GRCh38]
ChrX:153578204 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.373+10G>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002065241]|not specified [RCV000603010] |
ChrX:154370863 [GRCh38]
ChrX:153599231 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7333+16C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002063885]|not specified [RCV000603238] |
ChrX:154350015 [GRCh38]
ChrX:153578383 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6107C>T (p.Pro2036Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002232266]|not provided [RCV003231644] |
ChrX:154353120 [GRCh38]
ChrX:153581488 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4366C>T (p.Pro1456Ser) |
single nucleotide variant |
not provided [RCV000521370] |
ChrX:154359092 [GRCh38]
ChrX:153587460 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5951C>T (p.Thr1984Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002358506]|Heterotopia, periventricular, X-linked dominant [RCV000544722]|not provided [RCV001561889] |
ChrX:154353367 [GRCh38]
ChrX:153581735 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.544C>T (p.Gln182Ter) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000012513] |
ChrX:154367920 [GRCh38]
ChrX:153596288 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.720+2T>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000012514] |
ChrX:154367639 [GRCh38]
ChrX:153596007 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.623-3C>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000012515]|not provided [RCV000079706] |
ChrX:154367741 [GRCh38]
ChrX:153596109 [GRCh37]
ChrX:Xq28 |
pathogenic|uncertain significance |
| NM_001110556.2(FLNA):c.373+1G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000012516] |
ChrX:154370872 [GRCh38]
ChrX:153599240 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.287_291del (p.Arg96fs) |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV000012517] |
ChrX:154370955..154370959 [GRCh38]
ChrX:153599323..153599327 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.1966C>T (p.Leu656Phe) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000012518]|Heterotopia, periventricular, X-linked dominant [RCV001857335]|Neurodevelopmental delay [RCV002273924]|not provided [RCV001753412] |
ChrX:154364582 [GRCh38]
ChrX:153592950 [GRCh37]
ChrX:Xq28 |
pathogenic|likely pathogenic|benign|uncertain significance |
| NM_001110556.2(FLNA):c.6915C>G (p.Tyr2305Ter) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000012519] |
ChrX:154351689 [GRCh38]
ChrX:153580057 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.245A>T (p.Glu82Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000012520]|Heterotopia, periventricular, X-linked dominant [RCV003764561] |
ChrX:154371001 [GRCh38]
ChrX:153599369 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.620C>T (p.Pro207Leu) |
single nucleotide variant |
FLNA-related disorder [RCV004545725]|Familial thoracic aortic aneurysm and aortic dissection [RCV002354156]|Heterotopia, periventricular, X-linked dominant [RCV003764562]|Oto-palato-digital syndrome, type I [RCV000012521]|Short stature [RCV000415125]|not provided [RCV002509151]|not specified [RCV001000894] |
ChrX:154367844 [GRCh38]
ChrX:153596212 [GRCh37]
ChrX:Xq28 |
pathogenic|likely pathogenic |
| NM_001110556.2(FLNA):c.760G>A (p.Glu254Lys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001851804]|Oto-palato-digital syndrome, type II [RCV000012522]|not provided [RCV000178843] |
ChrX:154367505 [GRCh38]
ChrX:153595873 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.3476A>C (p.Asp1159Ala) |
single nucleotide variant |
Frontometaphyseal dysplasia 1 [RCV000012523] |
ChrX:154360319 [GRCh38]
ChrX:153588687 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.1330T>C (p.Cys444Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002525161]|not provided [RCV000520699] |
ChrX:154366123 [GRCh38]
ChrX:153594491 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3562G>A (p.Ala1188Thr) |
single nucleotide variant |
Melnick-Needles syndrome [RCV000012524]|not provided [RCV000523000] |
ChrX:154360233 [GRCh38]
ChrX:153588601 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001382364]|Melnick-Needles syndrome [RCV000012525] |
ChrX:154360199 [GRCh38]
ChrX:153588567 [GRCh37]
ChrX:Xq28 |
pathogenic|likely pathogenic |
| NM_001110556.2(FLNA):c.7315C>A (p.Leu2439Met) |
single nucleotide variant |
Heterotopia, periventricular, with frontometaphyseal dysplasia [RCV000012526] |
ChrX:154350049 [GRCh38]
ChrX:153578417 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.3557C>T (p.Ser1186Leu) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV004795395]|Frontometaphyseal dysplasia 1 [RCV000012527]|Heterotopia, periventricular, X-linked dominant [RCV002228026]|Oto-palato-digital syndrome, type II [RCV002051782]|not provided [RCV000414151] |
ChrX:154360238 [GRCh38]
ChrX:153588606 [GRCh37]
ChrX:Xq28 |
pathogenic|likely pathogenic |
| NM_001110556.2(FLNA):c.4904_4912del (p.Arg1635_Val1637del) |
deletion |
Otopalatodigital syndrome spectrum disorder [RCV000012528] |
ChrX:154357467..154357475 [GRCh38]
ChrX:153585835..153585843 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.2762del (p.Arg921fs) |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV000012529] |
ChrX:154362043 [GRCh38]
ChrX:153590411 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.4147del (p.Ala1383fs) |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV000012530] |
ChrX:154359402 [GRCh38]
ChrX:153587770 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.116C>G (p.Ala39Gly) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000012531] |
ChrX:154371130 [GRCh38]
ChrX:153599498 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.607G>T (p.Asp203Tyr) |
single nucleotide variant |
Oto-palato-digital syndrome, type I [RCV000012532] |
ChrX:154367857 [GRCh38]
ChrX:153596225 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.383C>T (p.Ala128Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000012533] |
ChrX:154368081 [GRCh38]
ChrX:153596449 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.5182G>T (p.Gly1728Cys) |
single nucleotide variant |
Otopalatodigital syndrome spectrum disorder [RCV000012534] |
ChrX:154354860 [GRCh38]
ChrX:153583228 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.1923C>T (p.Gly641=) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV000020423]|FLNA-related disorder [RCV004734511]|FLNA-related periventricular nodular heterotopia [RCV001563663]|Heterotopia, periventricular, X-linked dominant [RCV000012536]|Heterotopia, periventricular, X-linked dominant [RCV001348560]|not provided [RCV001753413] |
ChrX:154364625 [GRCh38]
ChrX:153592993 [GRCh37]
ChrX:Xq28 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_001110556.2(FLNA):c.67_68del (p.Thr23fs) |
microsatellite |
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked [RCV000012537] |
ChrX:154371178..154371179 [GRCh38]
ChrX:153599546..153599547 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000560177]|Oto-palato-digital syndrome, type I [RCV000012538]|Oto-palato-digital syndrome, type II [RCV000012539]|not provided [RCV000153245] |
ChrX:154367878 [GRCh38]
ChrX:153596246 [GRCh37]
ChrX:Xq28 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.629G>T (p.Cys210Phe) |
single nucleotide variant |
Oto-palato-digital syndrome, type II [RCV000012540] |
ChrX:154367732 [GRCh38]
ChrX:153596100 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.3872C>T (p.Pro1291Leu) |
single nucleotide variant |
FG syndrome 2 [RCV000012541]|FLNA-related disorder [RCV004532324]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313705]|Heterotopia, periventricular, X-linked dominant [RCV000869767]|not provided [RCV001549941] |
ChrX:154359839 [GRCh38]
ChrX:153588207 [GRCh37]
ChrX:Xq28 |
pathogenic|benign|likely benign |
| GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 |
copy number gain |
See cases [RCV000133911] |
ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic|likely pathogenic|conflicting data from submitters |
| NM_001110556.2(FLNA):c.5217G>A (p.Thr1739=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001205323]|Heterotopia, periventricular, X-linked dominant [RCV001292939]|Terminal osseous dysplasia-pigmentary defects syndrome [RCV000012542]|not provided [RCV001091828] |
ChrX:154354825 [GRCh38]
ChrX:153583193 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.1910C>A (p.Pro637Gln) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV000012543] |
ChrX:154364638 [GRCh38]
ChrX:153593006 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.862G>A (p.Gly288Arg) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV000012544]|Heterotopia, periventricular, X-linked dominant [RCV004820820] |
ChrX:154367403 [GRCh38]
ChrX:153595771 [GRCh37]
ChrX:Xq28 |
pathogenic|likely pathogenic |
| NM_001110556.2(FLNA):c.2132T>A (p.Val711Asp) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV000012545] |
ChrX:154364263 [GRCh38]
ChrX:153592631 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.2280+266_2827-25delinsTG |
indel |
Cardiac valvular dysplasia, X-linked [RCV000012546] |
ChrX:154361812..154363756 [GRCh38]
ChrX:153590180..153592124 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.3350A>G (p.Asn1117Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004040008]|not provided [RCV001725844] |
ChrX:154360445 [GRCh38]
ChrX:153588813 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.4143-1G>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002231779] |
ChrX:154359407 [GRCh38]
ChrX:153587775 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.2791A>G (p.Asn931Asp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002438369]|Heterotopia, periventricular, X-linked dominant [RCV002231778] |
ChrX:154362014 [GRCh38]
ChrX:153590382 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.1027_1028del (p.Ser343fs) |
microsatellite |
Periventricular nodular heterotopia [RCV004782419]|not provided [RCV000518334] |
ChrX:154366599..154366600 [GRCh38]
ChrX:153594967..153594968 [GRCh37]
ChrX:Xq28 |
pathogenic|likely pathogenic |
| NM_001110556.2(FLNA):c.7052C>G (p.Ala2351Gly) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002062106]|not provided [RCV000593962] |
ChrX:154351013 [GRCh38]
ChrX:153579381 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.7066A>C (p.Ser2356Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002314899]|Heterotopia, periventricular, X-linked dominant [RCV002231200]|not provided [RCV001508977]|not specified [RCV000516195] |
ChrX:154350999 [GRCh38]
ChrX:153579367 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.1(FLNA):c.16_17delTC (p.Arg7Glyfs) |
deletion |
Congenital short bowel syndrome, X-linked [RCV000043474] |
ChrX:154371229..154371230 [GRCh38]
ChrX:153599597..153599598 [GRCh37]
ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 |
copy number gain |
See cases [RCV000050889] |
ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:150036146-156022206)x3 |
copy number gain |
See cases [RCV000050946] |
ChrX:150036146..156022206 [GRCh38]
ChrX:149298619..155251871 [GRCh37]
ChrX:148955035..154905065 [NCBI36]
ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 |
copy number gain |
See cases [RCV000050810] |
ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:153929344-154367160)x3 |
copy number gain |
See cases [RCV000050852] |
ChrX:153929344..154367160 [GRCh38]
ChrX:153333946..153595528 [GRCh37]
ChrX:152847991..153248722 [NCBI36]
ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 |
copy number loss |
See cases [RCV000050811] |
ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 |
copy number loss |
See cases [RCV000050699] |
ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] |
ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:149989929-156022206)x3 |
copy number gain |
See cases [RCV000050657] |
ChrX:149989929..156022206 [GRCh38]
ChrX:149158160..155251871 [GRCh37]
ChrX:148908818..154905065 [NCBI36]
ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 |
copy number loss |
Global developmental delay [RCV000050386]|See cases [RCV000050386] |
ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 |
copy number gain |
See cases [RCV000050697] |
ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 |
copy number loss |
See cases [RCV000051160] |
ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28 |
pathogenic |
| GRCh38/hg38 Xq27.3-28(chrX:145879711-156022206)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|See cases [RCV000051747] |
ChrX:145879711..156022206 [GRCh38]
ChrX:146715565..155251871 [GRCh37]
ChrX:144768921..154905065 [NCBI36]
ChrX:Xq27.3-28 |
pathogenic |
| GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 |
copy number loss |
See cases [RCV000051665] |
ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:153296806-155699618)x1 |
copy number loss |
See cases [RCV000051750] |
ChrX:153296806..155699618 [GRCh38]
ChrX:152568327..154929279 [GRCh37]
ChrX:152215458..154582473 [NCBI36]
ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 |
copy number loss |
See cases [RCV000051666] |
ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28 |
pathogenic |
| GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 |
copy number loss |
See cases [RCV000051728] |
ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28 |
pathogenic |
| GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 |
copy number loss |
See cases [RCV000051729] |
ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28 |
pathogenic |
| GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 |
copy number loss |
See cases [RCV000051713] |
ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28 |
pathogenic |
| GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 |
copy number loss |
See cases [RCV000051732] |
ChrX:136956500..156020993 [GRCh38]
ChrX:136038659..155250658 [GRCh37]
ChrX:135866325..154903852 [NCBI36]
ChrX:Xq26.3-28 |
pathogenic |
| GRCh38/hg38 Xq27.1-28(chrX:140445228-155998166)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|See cases [RCV000051746] |
ChrX:140445228..155998166 [GRCh38]
ChrX:139527393..155227831 [GRCh37]
ChrX:139355059..154881025 [NCBI36]
ChrX:Xq27.1-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] |
ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 |
copy number gain |
See cases [RCV000052324] |
ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 |
copy number gain |
See cases [RCV000052359] |
ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 |
copy number gain |
See cases [RCV000052325] |
ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 |
copy number gain |
See cases [RCV000052322] |
ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:153722500-154367160)x2 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052524]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052524]|See cases [RCV000052524] |
ChrX:153722500..154367160 [GRCh38]
ChrX:152641149..153248722 [NCBI36]
ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:153769547-154394658)x2 |
copy number gain |
See cases [RCV000052525] |
ChrX:153769547..154394658 [GRCh38]
ChrX:152688196..153276194 [NCBI36]
ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:153777340-154397779)x3 |
copy number gain |
See cases [RCV000052527] |
ChrX:153777340..154397779 [GRCh38]
ChrX:153333946..153626120 [GRCh37]
ChrX:152695989..153279314 [NCBI36]
ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:153787044-154397779)x2 |
copy number gain |
See cases [RCV000052528] |
ChrX:153787044..154397779 [GRCh38]
ChrX:153333946..153626120 [GRCh37]
ChrX:152705693..153279314 [NCBI36]
ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:153932045-155611794)x3 |
copy number gain |
See cases [RCV000052529] |
ChrX:153932045..155611794 [GRCh38]
ChrX:152850692..154494649 [NCBI36]
ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:152932818-156022206)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|See cases [RCV000052490] |
ChrX:152932818..156022206 [GRCh38]
ChrX:152173071..155251871 [GRCh37]
ChrX:151852018..154905065 [NCBI36]
ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:153395425-155687381)x2 |
copy number gain |
See cases [RCV000052491] |
ChrX:153395425..155687381 [GRCh38]
ChrX:152314077..154570236 [NCBI36]
ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 |
copy number gain |
See cases [RCV000052445] |
ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28 |
pathogenic |
| GRCh38/hg38 Xq27.1-28(chrX:140226495-155687381)x2 |
copy number gain |
See cases [RCV000052471] |
ChrX:140226495..155687381 [GRCh38]
ChrX:139308651..154917042 [GRCh37]
ChrX:139136317..154570236 [NCBI36]
ChrX:Xq27.1-28 |
pathogenic |
| GRCh38/hg38 Xq27.1-28(chrX:140445228-154604471)x2 |
copy number gain |
See cases [RCV000052474] |
ChrX:140445228..154604471 [GRCh38]
ChrX:139527393..153832724 [GRCh37]
ChrX:139355059..153485918 [NCBI36]
ChrX:Xq27.1-28 |
pathogenic |
| GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3 |
copy number gain |
See cases [RCV000052475] |
ChrX:141160282..155699618 [GRCh38]
ChrX:140254480..154929279 [GRCh37]
ChrX:140082146..154582473 [NCBI36]
ChrX:Xq27.1-28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:153585420-154427385)x2 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]|See cases [RCV000052521] |
ChrX:153585420..154427385 [GRCh38]
ChrX:152864376..153655730 [GRCh37]
ChrX:152504072..153308924 [NCBI36]
ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:153590730-154380801)x2 |
copy number gain |
See cases [RCV000052522] |
ChrX:153590730..154380801 [GRCh38]
ChrX:152864376..153609161 [GRCh37]
ChrX:152509382..153262355 [NCBI36]
ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:153714542-154380803)x2 |
copy number gain |
See cases [RCV000052523] |
ChrX:153714542..154380803 [GRCh38]
ChrX:152633191..153262357 [NCBI36]
ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 |
copy number loss |
Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] |
ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 |
copy number loss |
Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] |
ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 |
copy number gain |
Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] |
ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:154336596-154642063)x2 |
copy number gain |
See cases [RCV000054320] |
ChrX:154336596..154642063 [GRCh38]
ChrX:153564946..153870337 [GRCh37]
ChrX:153218140..153523531 [NCBI36]
ChrX:Xq28 |
uncertain significance |
| GRCh38/hg38 Xq28(chrX:154348522-154594454)x2 |
copy number gain |
See cases [RCV000054321] |
ChrX:154348522..154594454 [GRCh38]
ChrX:153576890..153822717 [GRCh37]
ChrX:153230084..153475911 [NCBI36]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3925G>A (p.Val1309Ile) |
single nucleotide variant |
Connective tissue disorder [RCV000659666]|Familial thoracic aortic aneurysm and aortic dissection [RCV002369782]|Heterotopia, periventricular, X-linked dominant [RCV001307125] |
ChrX:154359786 [GRCh38]
ChrX:153588154 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.546G>C (p.Gln182His) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV000661984]|FG syndrome 2 [RCV000661985]|Familial thoracic aortic aneurysm and aortic dissection [RCV004822152]|Frontometaphyseal dysplasia 1 [RCV000661986]|Heterotopia, periventricular, X-linked dominant [RCV000661987]|Melnick-Needles syndrome [RCV000661988]|Terminal osseous dysplasia-pigmentary defects syndrome [RCV000661989]|not provided [RCV001766436] |
ChrX:154367918 [GRCh38]
ChrX:153596286 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5275C>T (p.Pro1759Ser) |
single nucleotide variant |
Connective tissue disorder [RCV000659671] |
ChrX:154354654 [GRCh38]
ChrX:153583022 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6466G>A (p.Val2156Ile) |
single nucleotide variant |
Connective tissue disorder [RCV000659674]|FLNA-related disorder [RCV004533445]|Heterotopia, periventricular, X-linked dominant [RCV003767912] |
ChrX:154352589 [GRCh38]
ChrX:153580957 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.6380-17G>A |
single nucleotide variant |
Connective tissue disorder [RCV000659673]|Heterotopia, periventricular, X-linked dominant [RCV002066962] |
ChrX:154352692 [GRCh38]
ChrX:153581060 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV002490694]|FLNA-related disorder [RCV004528286]|Familial thoracic aortic aneurysm and aortic dissection [RCV004019540]|Heterotopia, periventricular, X-linked dominant [RCV000229050]|not provided [RCV000755272]|not specified [RCV000079685] |
ChrX:154366167 [GRCh38]
ChrX:153594535 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_001110556.2(FLNA):c.134A>G (p.Gln45Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001527616]|Neurodevelopmental delay [RCV002273955]|not provided [RCV000079686] |
ChrX:154371112 [GRCh38]
ChrX:153599480 [GRCh37]
ChrX:Xq28 |
likely pathogenic|uncertain significance |
| NM_001110556.2(FLNA):c.1429+8C>T |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002390234]|Heterotopia, periventricular, X-linked dominant [RCV000170402]|Heterotopia, periventricular, X-linked dominant [RCV000231754]|not provided [RCV001573339]|not specified [RCV000079687] |
ChrX:154366016 [GRCh38]
ChrX:153594384 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| NM_001110556.2(FLNA):c.237G>C (p.Ala79=) |
single nucleotide variant |
Connective tissue disorder [RCV000659650]|Familial thoracic aortic aneurysm and aortic dissection [RCV004019541]|Heterotopia, periventricular, X-linked dominant [RCV001089423]|not provided [RCV000079688]|not specified [RCV000259078] |
ChrX:154371009 [GRCh38]
ChrX:153599377 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.2761C>T (p.Arg921Ter) |
single nucleotide variant |
Global developmental delay [RCV002226662]|Heterotopia, periventricular, X-linked dominant [RCV001380531]|not provided [RCV000175416] |
ChrX:154362044 [GRCh38]
ChrX:153590412 [GRCh37]
ChrX:Xq28 |
pathogenic|likely pathogenic |
| NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV002498401]|Connective tissue disorder [RCV000659660]|Familial thoracic aortic aneurysm and aortic dissection [RCV004019542]|Heterotopia, periventricular, X-linked dominant [RCV000471541]|not provided [RCV000224049]|not specified [RCV000079690] |
ChrX:154361480 [GRCh38]
ChrX:153589848 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_001110556.2(FLNA):c.3147C>T (p.Gly1049=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002321575]|Heterotopia, periventricular, X-linked dominant [RCV000640776]|not provided [RCV000723682]|not specified [RCV000079691] |
ChrX:154361368 [GRCh38]
ChrX:153589736 [GRCh37]
ChrX:Xq28 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.3153dup (p.Val1052fs) |
duplication |
not provided [RCV000176183] |
ChrX:154361361..154361362 [GRCh38]
ChrX:153589729..153589730 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.3323G>A (p.Cys1108Tyr) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV000764863]|Heterotopia, periventricular, X-linked dominant [RCV001854407]|not provided [RCV000079693]|not specified [RCV001001353] |
ChrX:154360472 [GRCh38]
ChrX:153588840 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.3379G>A (p.Val1127Met) |
single nucleotide variant |
FLNA-related disorder [RCV004542758]|Familial thoracic aortic aneurysm and aortic dissection [RCV002453400]|Heterotopia, periventricular, X-linked dominant [RCV001089189]|not provided [RCV000514621]|not specified [RCV000196824] |
ChrX:154360416 [GRCh38]
ChrX:153588784 [GRCh37]
ChrX:Xq28 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.374-19G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002055129]|not provided [RCV004713198]|not specified [RCV000079695] |
ChrX:154368109 [GRCh38]
ChrX:153596477 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.4263C>T (p.Thr1421=) |
single nucleotide variant |
Connective tissue disorder [RCV000680538]|Familial thoracic aortic aneurysm and aortic dissection [RCV002326796]|Heterotopia, periventricular, X-linked dominant [RCV002228211]|not provided [RCV000079696] |
ChrX:154359286 [GRCh38]
ChrX:153587654 [GRCh37]
ChrX:Xq28 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.42del (p.Ala15fs) |
deletion |
not provided [RCV000175695] |
ChrX:154371204 [GRCh38]
ChrX:153599572 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.4446_4447dup (p.Leu1483fs) |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV000170414]|not provided [RCV000176639] |
ChrX:154359010..154359011 [GRCh38]
ChrX:153587378..153587379 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.4543C>T (p.Arg1515Ter) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003764758]|not provided [RCV000176728] |
ChrX:154358500 [GRCh38]
ChrX:153586868 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.4920G>A (p.Gly1640=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004019543]|Heterotopia, periventricular, X-linked dominant [RCV000469211]|not provided [RCV004713199]|not specified [RCV000079700] |
ChrX:154357459 [GRCh38]
ChrX:153585827 [GRCh37]
ChrX:Xq28 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_001110556.2(FLNA):c.5132_5133delinsAA (p.Phe1711Ter) |
indel |
not provided [RCV000177454] |
ChrX:154354909..154354910 [GRCh38]
ChrX:153583277..153583278 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004019544]|Heterotopia, periventricular, X-linked dominant [RCV000465661]|not provided [RCV000224486]|not specified [RCV000079702] |
ChrX:154354639 [GRCh38]
ChrX:153583007 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_001110556.2(FLNA):c.5850T>C (p.Ala1950=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004019545]|Heterotopia, periventricular, X-linked dominant [RCV001521359]|not provided [RCV001811364]|not specified [RCV000079703] |
ChrX:154353564 [GRCh38]
ChrX:153581932 [GRCh37]
ChrX:Xq28 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu) |
single nucleotide variant |
Abnormal bleeding [RCV001270494]|Cardiac valvular dysplasia, X-linked [RCV002498402]|Connective tissue disorder [RCV000659672]|Familial thoracic aortic aneurysm and aortic dissection [RCV004019546]|Heterotopia, periventricular, X-linked dominant [RCV001083521]|not provided [RCV000514451]|not specified [RCV000079704] |
ChrX:154353346 [GRCh38]
ChrX:153581714 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_001110556.2(FLNA):c.6227-7C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001518324]|not provided [RCV000079705] |
ChrX:154352931 [GRCh38]
ChrX:153581299 [GRCh37]
ChrX:Xq28 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.1(FLNA):c.623-3C>G |
single nucleotide variant |
not provided [RCV000079706] |
ChrX:154367741 [GRCh38]
ChrX:153596109 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6642G>C (p.Val2214=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004019547]|Heterotopia, periventricular, X-linked dominant [RCV000467982]|not provided [RCV001811365]|not specified [RCV000079707] |
ChrX:154352308 [GRCh38]
ChrX:153580676 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_001110556.2(FLNA):c.663C>T (p.Pro221=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004019548]|Heterotopia, periventricular, X-linked dominant [RCV000474182]|not provided [RCV001811366]|not specified [RCV000117059] |
ChrX:154367698 [GRCh38]
ChrX:153596066 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| NM_001110556.2(FLNA):c.6742C>T (p.Leu2248=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004019549]|Heterotopia, periventricular, X-linked dominant [RCV001084164]|not provided [RCV000205572]|not specified [RCV000079709] |
ChrX:154352208 [GRCh38]
ChrX:153580576 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_001110556.2(FLNA):c.7551_7552+6del |
deletion |
not provided [RCV000597855] |
ChrX:154349643..154349650 [GRCh38]
ChrX:153578011..153578018 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.7671C>T (p.Ala2557=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003764759]|not provided [RCV000079712] |
ChrX:154349447 [GRCh38]
ChrX:153577815 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.7756+11= |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002055130]|not provided [RCV004713200]|not specified [RCV000079713] |
ChrX:154349351 [GRCh38]
ChrX:153577719 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.869-7C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000228246]|not provided [RCV001811367]|not specified [RCV000079714] |
ChrX:154366857 [GRCh38]
ChrX:153595225 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.882A>G (p.Thr294=) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV002498403]|Familial thoracic aortic aneurysm and aortic dissection [RCV004019550]|Heterotopia, periventricular, X-linked dominant [RCV000756173]|not provided [RCV001705741]|not specified [RCV000117062] |
ChrX:154366837 [GRCh38]
ChrX:153595205 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| NM_001110556.2(FLNA):c.1239G>A (p.Thr413=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313880]|Heterotopia, periventricular, X-linked dominant [RCV001088786]|not provided [RCV000117041]|not specified [RCV000259152] |
ChrX:154366214 [GRCh38]
ChrX:153594582 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.1579C>T (p.Arg527Cys) |
single nucleotide variant |
Connective tissue disorder [RCV000659655]|FLNA-related disorder [RCV004529961]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313881]|Heterotopia, periventricular, X-linked dominant [RCV001079137]|See cases [RCV004584353]|not provided [RCV000117042]|not specified [RCV000199806] |
ChrX:154365248 [GRCh38]
ChrX:153593616 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.2023-8C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001087153]|not provided [RCV000117043] |
ChrX:154364380 [GRCh38]
ChrX:153592748 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.3045G>A (p.Ala1015=) |
single nucleotide variant |
FLNA-related disorder [RCV004542839]|Familial thoracic aortic aneurysm and aortic dissection [RCV002444569]|Heterotopia, periventricular, X-linked dominant [RCV001085193]|not provided [RCV000117044]|not specified [RCV000225737] |
ChrX:154361470 [GRCh38]
ChrX:153589838 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.5589C>T (p.Val1863=) |
single nucleotide variant |
Connective tissue disorder [RCV000680535]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310674]|Heterotopia, periventricular, X-linked dominant [RCV000861237]|not provided [RCV001705831]|not specified [RCV000444097] |
ChrX:154354012 [GRCh38]
ChrX:153582380 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.5873T>G (p.Met1958Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002354296]|Heterotopia, periventricular, X-linked dominant [RCV002530052]|not provided [RCV000117046] |
ChrX:154353445 [GRCh38]
ChrX:153581813 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1176G>A (p.Glu392=) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV002498511]|Connective tissue disorder [RCV000659652]|Familial thoracic aortic aneurysm and aortic dissection [RCV004019630]|Heterotopia, periventricular, X-linked dominant [RCV000756175]|not provided [RCV001723679]|not specified [RCV000117047] |
ChrX:154366360 [GRCh38]
ChrX:153594728 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001110556.2(FLNA):c.1691+7C>A |
single nucleotide variant |
Connective tissue disorder [RCV000659656]|Heterotopia, periventricular, X-linked dominant [RCV001080220]|not provided [RCV000117048]|not specified [RCV000225697] |
ChrX:154365129 [GRCh38]
ChrX:153593497 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.1968C>T (p.Leu656=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004019631]|Heterotopia, periventricular, X-linked dominant [RCV000757306]|not provided [RCV001811961]|not specified [RCV000117049] |
ChrX:154364580 [GRCh38]
ChrX:153592948 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001110556.2(FLNA):c.2178C>T (p.Asn726=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002426663]|Heterotopia, periventricular, X-linked dominant [RCV001078644]|not provided [RCV000117050]|not specified [RCV000371186] |
ChrX:154364124 [GRCh38]
ChrX:153592492 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.2433C>T (p.Ala811=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004019632]|Heterotopia, periventricular, X-linked dominant [RCV000459492]|not provided [RCV001811962]|not specified [RCV000117052] |
ChrX:154362550 [GRCh38]
ChrX:153590918 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.2725G>A (p.Val909Ile) |
single nucleotide variant |
FLNA-related disorder [RCV004542840]|Familial thoracic aortic aneurysm and aortic dissection [RCV004019633]|Heterotopia, periventricular, X-linked dominant [RCV001085804]|not provided [RCV000117053]|not specified [RCV000200324] |
ChrX:154362080 [GRCh38]
ChrX:153590448 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.3270C>T (p.Ile1090=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004019634]|Heterotopia, periventricular, X-linked dominant [RCV000757305]|not provided [RCV001811963]|not specified [RCV000117054] |
ChrX:154360525 [GRCh38]
ChrX:153588893 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001110556.2(FLNA):c.3690C>T (p.Thr1230=) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV002498512]|Familial thoracic aortic aneurysm and aortic dissection [RCV004019635]|Heterotopia, periventricular, X-linked dominant [RCV000757303]|not provided [RCV001811964]|not specified [RCV000117055] |
ChrX:154360105 [GRCh38]
ChrX:153588473 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001110556.2(FLNA):c.4233G>A (p.Ser1411=) |
single nucleotide variant |
FLNA-related disorder [RCV004529962]|Familial thoracic aortic aneurysm and aortic dissection [RCV004019636]|Heterotopia, periventricular, X-linked dominant [RCV000473871]|not provided [RCV001811965]|not specified [RCV000117056] |
ChrX:154359316 [GRCh38]
ChrX:153587684 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001110556.2(FLNA):c.4598+8G>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000461339]|not provided [RCV001811966]|not specified [RCV000117057] |
ChrX:154358437 [GRCh38]
ChrX:153586805 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.5814C>T (p.Tyr1938=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004019637]|Heterotopia, periventricular, X-linked dominant [RCV001085074]|not provided [RCV000755540]|not specified [RCV000117058] |
ChrX:154353600 [GRCh38]
ChrX:153581968 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001110556.2(FLNA):c.7224C>T (p.Gly2408=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004019638]|Heterotopia, periventricular, X-linked dominant [RCV000757304]|not provided [RCV001811967]|not specified [RCV000117060] |
ChrX:154350140 [GRCh38]
ChrX:153578508 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001110556.2(FLNA):c.7434G>A (p.Glu2478=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004019639]|Heterotopia, periventricular, X-linked dominant [RCV000756176]|not provided [RCV001811968]|not specified [RCV000117061] |
ChrX:154349767 [GRCh38]
ChrX:153578135 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.3805+15C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002055544]|not provided [RCV001812047]|not specified [RCV000125131] |
ChrX:154359975 [GRCh38]
ChrX:153588343 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.3915G>A (p.Thr1305=) |
single nucleotide variant |
FLNA-related disorder [RCV004544252]|Familial thoracic aortic aneurysm and aortic dissection [RCV004019716]|Heterotopia, periventricular, X-linked dominant [RCV001080902]|not provided [RCV000757307]|not specified [RCV000194834] |
ChrX:154359796 [GRCh38]
ChrX:153588164 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001110556.2(FLNA):c.1430-1G>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000170397] |
ChrX:154365487 [GRCh38]
ChrX:153593855 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.6635_6638del (p.Val2212fs) |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV000170398]|Heterotopia, periventricular, X-linked dominant [RCV003765061]|not provided [RCV000199583] |
ChrX:154352312..154352315 [GRCh38]
ChrX:153580680..153580683 [GRCh37]
ChrX:Xq28 |
pathogenic|likely pathogenic |
| NM_001110556.2(FLNA):c.759C>T (p.Asp253=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002314986]|Heterotopia, periventricular, X-linked dominant [RCV001514408]|not provided [RCV000762690] |
ChrX:154367506 [GRCh38]
ChrX:153595874 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.1045G>T (p.Glu349Ter) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000170399] |
ChrX:154366582 [GRCh38]
ChrX:153594950 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.1061_1065del (p.His354fs) |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV000170400] |
ChrX:154366562..154366566 [GRCh38]
ChrX:153594930..153594934 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.137del (p.Gln46fs) |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV000170401] |
ChrX:154371109 [GRCh38]
ChrX:153599477 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.1722T>A (p.Cys574Ter) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000170403]|not provided [RCV002221507] |
ChrX:154364927 [GRCh38]
ChrX:153593295 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.1829-2A>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000170404] |
ChrX:154364721 [GRCh38]
ChrX:153593089 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.1850C>T (p.Ser617Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000170405]|Heterotopia, periventricular, X-linked dominant [RCV002228616]|not provided [RCV001657940] |
ChrX:154364698 [GRCh38]
ChrX:153593066 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.2023-6C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000170406]|Heterotopia, periventricular, X-linked dominant [RCV000553609]|not provided [RCV001704233] |
ChrX:154364378 [GRCh38]
ChrX:153592746 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.2565+1G>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000170407] |
ChrX:154362417 [GRCh38]
ChrX:153590785 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.3285C>A (p.Ala1095=) |
single nucleotide variant |
not specified [RCV000170408] |
ChrX:154360510 [GRCh38]
ChrX:153588878 [GRCh37]
ChrX:Xq28 |
pathogenic|likely benign |
| NM_001110556.2(FLNA):c.3529del (p.Glu1177fs) |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV000170409] |
ChrX:154360266 [GRCh38]
ChrX:153588634 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.3875_3888dup (p.Val1297fs) |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV000170410] |
ChrX:154359822..154359823 [GRCh38]
ChrX:153588190..153588191 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.3980-5_3990dup |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV000170411] |
ChrX:154359635..154359636 [GRCh38]
ChrX:153588003..153588004 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.4006del (p.Asp1336fs) |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV000170412] |
ChrX:154359620 [GRCh38]
ChrX:153587988 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.4060G>A (p.Asp1354Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002321679]|Heterotopia, periventricular, X-linked dominant [RCV000170413]|Heterotopia, periventricular, X-linked dominant [RCV001442515]|not provided [RCV000640771] |
ChrX:154359566 [GRCh38]
ChrX:153587934 [GRCh37]
ChrX:Xq28 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) |
single nucleotide variant |
Aortic dilatation [RCV000582185]|Connective tissue disorder [RCV000659667]|Familial thoracic aortic aneurysm and aortic dissection [RCV004020018]|Heterotopia, periventricular, X-linked dominant [RCV000170415]|Heterotopia, periventricular, X-linked dominant [RCV000475968]|Thrombocytopenia [RCV003313943]|not provided [RCV001579665]|not specified [RCV000193523] |
ChrX:154359007 [GRCh38]
ChrX:153587375 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.4617_4618del (p.Leu1540fs) |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV000170416] |
ChrX:154358336..154358337 [GRCh38]
ChrX:153586704..153586705 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.4866C>T (p.Tyr1622=) |
single nucleotide variant |
FG syndrome 2 [RCV004593996]|Familial thoracic aortic aneurysm and aortic dissection [RCV004020019]|Heterotopia, periventricular, X-linked dominant [RCV001086010]|not provided [RCV000757302]|not specified [RCV000170417] |
ChrX:154357513 [GRCh38]
ChrX:153585881 [GRCh37]
ChrX:Xq28 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001110556.2(FLNA):c.4926C>T (p.Ala1642=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004821989]|Heterotopia, periventricular, X-linked dominant [RCV002516542]|not specified [RCV000170418] |
ChrX:154357453 [GRCh38]
ChrX:153585821 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4935C>A (p.Cys1645Ter) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000170419] |
ChrX:154357444 [GRCh38]
ChrX:153585812 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.4943del (p.Thr1648fs) |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV000170420] |
ChrX:154357436 [GRCh38]
ChrX:153585804 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.5021_5022del (p.Val1674fs) |
microsatellite |
Heterotopia, periventricular, X-linked dominant [RCV000170421] |
ChrX:154355020..154355021 [GRCh38]
ChrX:153583388..153583389 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.623-20_623-12del |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV000170422] |
ChrX:154367750..154367758 [GRCh38]
ChrX:153596118..153596126 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6355_6356del (p.Lys2119fs) |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV000170423] |
ChrX:154352795..154352796 [GRCh38]
ChrX:153581163..153581164 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.6580G>T (p.Glu2194Ter) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000170424] |
ChrX:154352370 [GRCh38]
ChrX:153580738 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.732dup (p.Glu245fs) |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV000170425] |
ChrX:154367532..154367533 [GRCh38]
ChrX:153595900..153595901 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.987+1G>A |
single nucleotide variant |
FLNA-related disorder [RCV004545753]|Heterotopia, periventricular, X-linked dominant [RCV000170426] |
ChrX:154366731 [GRCh38]
ChrX:153595099 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.3856A>T (p.Thr1286Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001349266]|not provided [RCV004727176] |
ChrX:154359855 [GRCh38]
ChrX:153588223 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 |
copy number gain |
See cases [RCV000133654] |
ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_001110556.2(FLNA):c.1349T>C (p.Met450Thr) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV001331936]|Familial thoracic aortic aneurysm and aortic dissection [RCV004822360]|Heterotopia, periventricular, X-linked dominant [RCV002546520] |
ChrX:154366104 [GRCh38]
ChrX:153594472 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.2280+389T>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000577901] |
ChrX:154363633 [GRCh38]
ChrX:153592001 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.4269_4277delinsTGGC (p.Leu1424fs) |
indel |
not provided [RCV000176540] |
ChrX:154359272..154359280 [GRCh38]
ChrX:153587640..153587648 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.4420G>A (p.Asp1474Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002326964]|Heterotopia, periventricular, X-linked dominant [RCV000556510]|not provided [RCV001589054]|not specified [RCV000176638] |
ChrX:154359038 [GRCh38]
ChrX:153587406 [GRCh37]
ChrX:Xq28 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| Single allele |
duplication |
Oto-palato-digital syndrome, type I [RCV000176184]|X-linked periventricular heterotopia [RCV000176183] |
ChrX:153589729..153589730 [GRCh37] |
pathogenic |
| NM_001110556.1(FLNA):c.4778_4779insAA (p.Thr1594Argfs) |
insertion |
Oto-palato-digital syndrome, type I [RCV000176923]|X-linked periventricular heterotopia [RCV000176924] |
ChrX:154357600..154357601 [GRCh38]
ChrX:153585968..153585969 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.5116G>A (p.Gly1706Ser) |
single nucleotide variant |
FLNA-related disorder [RCV004540027]|Familial thoracic aortic aneurysm and aortic dissection [RCV002334406]|Heterotopia, periventricular, X-linked dominant [RCV001214180]|not provided [RCV000722193]|not specified [RCV001816792] |
ChrX:154354926 [GRCh38]
ChrX:153583294 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.1359C>T (p.Val453=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001394545] |
ChrX:154366094 [GRCh38]
ChrX:153594462 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5854del (p.Val1952fs) |
deletion |
not provided [RCV000177835] |
ChrX:154353560 [GRCh38]
ChrX:153581928 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.2092G>T (p.Asp698Tyr) |
single nucleotide variant |
not provided [RCV001812353] |
ChrX:154364303 [GRCh38]
ChrX:153592671 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2521C>T (p.Arg841Trp) |
single nucleotide variant |
FLNA-related disorder [RCV004734238]|Heterotopia, periventricular, X-linked dominant [RCV002569056]|not provided [RCV001572051]|not specified [RCV003323905] |
ChrX:154362462 [GRCh38]
ChrX:153590830 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.3092T>C (p.Val1031Ala) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001291758] |
ChrX:154361423 [GRCh38]
ChrX:153589791 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6372C>G (p.His2124Gln) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002368112]|Heterotopia, periventricular, X-linked dominant [RCV002546522]|Oto-palato-digital syndrome, type I [RCV001332005]|not provided [RCV003145577]|not specified [RCV003230663] |
ChrX:154352779 [GRCh38]
ChrX:153581147 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4381G>A (p.Gly1461Ser) |
single nucleotide variant |
FG syndrome 2 [RCV001332004] |
ChrX:154359077 [GRCh38]
ChrX:153587445 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.623-49T>C |
single nucleotide variant |
not provided [RCV001572510] |
ChrX:154367787 [GRCh38]
ChrX:153596155 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1812C>T (p.Asp604=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004020066]|Heterotopia, periventricular, X-linked dominant [RCV001510326]|not provided [RCV000724189]|not specified [RCV000225700] |
ChrX:154364837 [GRCh38]
ChrX:153593205 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh38/hg38 Xq27.1-28(chrX:139333024-155978689)x1 |
copy number loss |
See cases [RCV000133818] |
ChrX:139333024..155978689 [GRCh38]
ChrX:138415183..155208354 [GRCh37]
ChrX:138242849..154861548 [NCBI36]
ChrX:Xq27.1-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 |
copy number loss |
See cases [RCV000133792] |
ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_001110556.2(FLNA):c.1582G>A (p.Val528Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004020064]|Heterotopia, periventricular, X-linked dominant [RCV000490438]|Heterotopia, periventricular, X-linked dominant [RCV001079269]|not provided [RCV000755539]|not specified [RCV000174052] |
ChrX:154365245 [GRCh38]
ChrX:153593613 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 |
copy number gain |
See cases [RCV000050385] |
ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 |
copy number loss |
See cases [RCV000050386] |
ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_001110556.2(FLNA):c.1875C>T (p.Asp625=) |
single nucleotide variant |
Connective tissue disorder [RCV000659658]|Familial thoracic aortic aneurysm and aortic dissection [RCV004020068]|Heterotopia, periventricular, X-linked dominant [RCV001080648]|not provided [RCV000724601]|not specified [RCV000192550] |
ChrX:154364673 [GRCh38]
ChrX:153593041 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 |
copy number loss |
See cases [RCV000052986] |
ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 |
copy number loss |
See cases [RCV000052982] |
ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 |
copy number gain |
See cases [RCV000052984] |
ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq27.3-28(chrX:144627217-155434735)x3 |
copy number gain |
See cases [RCV000133725] |
ChrX:144627217..155434735 [GRCh38]
ChrX:146715565..154664396 [GRCh37]
ChrX:143516380..154317590 [NCBI36]
ChrX:Xq27.3-28 |
pathogenic |
| GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 |
copy number gain |
See cases [RCV000133744] |
ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 |
copy number gain |
See cases [RCV000134564] |
ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 |
copy number loss |
See cases [RCV000134570] |
ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 |
copy number loss |
See cases [RCV000133947] |
ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 |
copy number gain |
See cases [RCV000134025] |
ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28 |
pathogenic |
| GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 |
copy number loss |
See cases [RCV000135300] |
ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 |
copy number loss |
See cases [RCV000135321] |
ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 |
copy number loss |
See cases [RCV000135307] |
ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28 |
pathogenic |
| GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 |
copy number loss |
See cases [RCV000134958] |
ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28 |
pathogenic |
| GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 |
copy number loss |
See cases [RCV000134947] |
ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28 |
pathogenic |
| GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 |
copy number loss |
See cases [RCV000135552] |
ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:153296806-154604471)x2 |
copy number gain |
See cases [RCV000135451] |
ChrX:153296806..154604471 [GRCh38]
ChrX:152568327..153832724 [GRCh37]
ChrX:152215458..153485918 [NCBI36]
ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 |
copy number loss |
See cases [RCV000135454] |
ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 |
copy number loss |
See cases [RCV000136478] |
ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 |
copy number gain |
See cases [RCV000136552] |
ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 |
copy number loss |
See cases [RCV000136097] |
ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_001110556.2(FLNA):c.2550C>T (p.Val850=) |
single nucleotide variant |
not provided [RCV000175160] |
ChrX:154362433 [GRCh38]
ChrX:153590801 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser) |
single nucleotide variant |
Connective tissue disorder [RCV000680542]|Disorder of sexual differentiation [RCV001568328]|FLNA-related disorder [RCV000509326]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313039]|Heterotopia, periventricular, X-linked dominant [RCV001087877]|not provided [RCV000416150]|not specified [RCV000198787] |
ChrX:154362534 [GRCh38]
ChrX:153590902 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 |
copy number gain |
See cases [RCV000136030] |
ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 |
copy number loss |
See cases [RCV000136005] |
ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 |
copy number loss |
See cases [RCV000136095] |
ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28 |
pathogenic |
| GRCh38/hg38 Xq27.1-28(chrX:140783390-155611114)x2 |
copy number gain |
See cases [RCV000135881] |
ChrX:140783390..155611114 [GRCh38]
ChrX:139865555..154785891 [GRCh37]
ChrX:139693221..154493969 [NCBI36]
ChrX:Xq27.1-28 |
pathogenic |
| GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 |
copy number loss |
See cases [RCV000136083] |
ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 Xq27.2-28(chrX:141650284-156022206)x1 |
copy number loss |
See cases [RCV000136912] |
ChrX:141650284..156022206 [GRCh38]
ChrX:140738414..155251871 [GRCh37]
ChrX:140566080..154905065 [NCBI36]
ChrX:Xq27.2-28 |
pathogenic |
| GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 |
copy number loss |
See cases [RCV000137113] |
ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:153322656-155522304)x2 |
copy number gain |
See cases [RCV000136716] |
ChrX:153322656..155522304 [GRCh38]
ChrX:152864376..154751965 [GRCh37]
ChrX:152241308..154405159 [NCBI36]
ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 |
copy number gain |
See cases [RCV000136841] |
ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:151750863-155522304)x1 |
copy number loss |
See cases [RCV000136718] |
ChrX:151750863..155522304 [GRCh38]
ChrX:150919335..154751965 [GRCh37]
ChrX:150669991..154405159 [NCBI36]
ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 |
copy number gain |
See cases [RCV000136791] |
ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:153276277-156003242)x3 |
copy number gain |
See cases [RCV000137498] |
ChrX:153276277..156003242 [GRCh38]
ChrX:152465185..155232907 [GRCh37]
ChrX:152118379..154886101 [NCBI36]
ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:153667032-154394658)x2 |
copy number gain |
See cases [RCV000137536] |
ChrX:153667032..154394658 [GRCh38]
ChrX:152585681..153276194 [NCBI36]
ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:154363949-154405679)x3 |
copy number gain |
See cases [RCV000137621] |
ChrX:154363949..154405679 [GRCh38]
ChrX:153592317..153634020 [GRCh37]
ChrX:153245511..153287214 [NCBI36]
ChrX:Xq28 |
likely benign |
| GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 |
copy number gain |
See cases [RCV000137553] |
ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28 |
pathogenic |
| GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 |
copy number loss |
See cases [RCV000137415] |
ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28 |
pathogenic |
| GRCh38/hg38 Xq26.3-28(chrX:137118983-156003242)x1 |
copy number loss |
See cases [RCV000137257] |
ChrX:137118983..156003242 [GRCh38]
ChrX:136201142..155232907 [GRCh37]
ChrX:136028808..154886101 [NCBI36]
ChrX:Xq26.3-28 |
pathogenic|uncertain significance |
| GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 |
copy number loss |
See cases [RCV000137167] |
ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28 |
pathogenic|uncertain significance |
| GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 |
copy number loss |
See cases [RCV000137138] |
ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28 |
pathogenic |
| GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 |
copy number gain |
See cases [RCV000138020] |
ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28 |
pathogenic |
| GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 |
copy number loss |
See cases [RCV000137887] |
ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28 |
pathogenic |
| GRCh38/hg38 Xq27.3-28(chrX:143553831-156003229)x1 |
copy number loss |
See cases [RCV000138679] |
ChrX:143553831..156003229 [GRCh38]
ChrX:142641674..155232894 [GRCh37]
ChrX:142469340..154886088 [NCBI36]
ChrX:Xq27.3-28 |
pathogenic |
| GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 |
copy number loss |
See cases [RCV000138787] |
ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:153727116-154555423)x2 |
copy number gain |
See cases [RCV000138393] |
ChrX:153727116..154555423 [GRCh38]
ChrX:153333946..153783638 [GRCh37]
ChrX:152645765..153436832 [NCBI36]
ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 |
copy number loss |
See cases [RCV000138541] |
ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 |
copy number loss |
See cases [RCV000139278] |
ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 |
copy number loss |
See cases [RCV000139351] |
ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28 |
pathogenic|likely benign |
| GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 |
copy number loss |
See cases [RCV000139400] |
ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 |
copy number gain |
See cases [RCV000139416] |
ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28 |
pathogenic|likely benign |
| GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 |
copy number gain |
See cases [RCV000139888] |
ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:153813894-154383071)x2 |
copy number gain |
See cases [RCV000140524] |
ChrX:153813894..154383071 [GRCh38]
ChrX:153079349..153611431 [GRCh37]
ChrX:152732543..153264625 [NCBI36]
ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:154348522-154770053)x2 |
copy number gain |
See cases [RCV000140492] |
ChrX:154348522..154770053 [GRCh38]
ChrX:153576890..153998328 [GRCh37]
ChrX:153230084..153651522 [NCBI36]
ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xq27.1-28(chrX:139530928-156003229)x1 |
copy number loss |
See cases [RCV000139724] |
ChrX:139530928..156003229 [GRCh38]
ChrX:138613087..155232894 [GRCh37]
ChrX:138440753..154886088 [NCBI36]
ChrX:Xq27.1-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 |
copy number gain |
See cases [RCV000141400] |
ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 |
copy number gain |
See cases [RCV000141401] |
ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:154017291-154394658)x3 |
copy number gain |
See cases [RCV000141234] |
ChrX:154017291..154394658 [GRCh38]
ChrX:153333946..153623000 [GRCh37]
ChrX:152935936..153276194 [NCBI36]
ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 |
copy number gain |
See cases [RCV000140786] |
ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 |
copy number loss |
See cases [RCV000140787] |
ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic|conflicting data from submitters |
| GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 |
copy number loss |
See cases [RCV000141825] |
ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 |
copy number loss |
See cases [RCV000142016] |
ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28 |
pathogenic |
| GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 |
copy number loss |
See cases [RCV000141743] |
ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28 |
pathogenic |
| GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 |
copy number loss |
See cases [RCV000142337] |
ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 |
copy number loss |
See cases [RCV000142137] |
ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28 |
pathogenic |
| GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 |
copy number loss |
See cases [RCV000142037] |
ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28 |
pathogenic |
| GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 |
copy number loss |
See cases [RCV000142190] |
ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28 |
pathogenic |
| GRCh38/hg38 Xq28(chrX:148951460-155434653)x2 |
copy number gain |
See cases [RCV000143002] |
ChrX:148951460..155434653 [GRCh38]
ChrX:148956425..154664314 [GRCh37]
ChrX:147840690..154317508 [NCBI36]
ChrX:Xq28 |
pathogenic |
| GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 |
copy number loss |
See cases [RCV000142577] |
ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 |
copy number gain |
See cases [RCV000142625] |
ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 |
copy number loss |
See cases [RCV000143424] |
ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28 |
pathogenic |
| GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 |
copy number loss |
See cases [RCV000143349] |
ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 |
copy number loss |
See cases [RCV000143441] |
ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 |
copy number gain |
See cases [RCV000143433] |
ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 |
copy number loss |
See cases [RCV000143132] |
ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 |
copy number gain |
See cases [RCV000143219] |
ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_001110556.2(FLNA):c.7757-1G>C |
single nucleotide variant |
not provided [RCV000153246] |
ChrX:154349037 [GRCh38]
ChrX:153577405 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.7756+8A>G |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV002505163]|Connective tissue disorder [RCV000659677]|Heterotopia, periventricular, X-linked dominant [RCV000234543]|not provided [RCV001573652]|not specified [RCV000153247] |
ChrX:154349354 [GRCh38]
ChrX:153577722 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.7553-18A>G |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV002492574]|Heterotopia, periventricular, X-linked dominant [RCV002056032]|not provided [RCV001812128]|not specified [RCV000153248] |
ChrX:154349583 [GRCh38]
ChrX:153577951 [GRCh37]
ChrX:Xq28 |
benign |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 |
copy number loss |
See cases [RCV000148135] |
ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_001110556.2(FLNA):c.2826+7A>G |
single nucleotide variant |
FLNA-related disorder [RCV004537384]|Heterotopia, periventricular, X-linked dominant [RCV001523057]|not provided [RCV000175415] |
ChrX:154361972 [GRCh38]
ChrX:153590340 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 |
copy number gain |
See cases [RCV000148141] |
ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_001110556.2(FLNA):c.7172G>A (p.Arg2391His) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002312990]|Heterotopia, periventricular, X-linked dominant [RCV000234036]|not provided [RCV000723787] |
ChrX:154350192 [GRCh38]
ChrX:153578560 [GRCh37]
ChrX:Xq28 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.7153C>T (p.Gln2385Ter) |
single nucleotide variant |
not provided [RCV000178520] |
ChrX:154350912 [GRCh38]
ChrX:153579280 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.6291G>A (p.Leu2097=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003764939]|not provided [RCV000153251] |
ChrX:154352860 [GRCh38]
ChrX:153581228 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.4777_4778dup (p.Thr1594fs) |
duplication |
not provided [RCV000176923] |
ChrX:154357600..154357601 [GRCh38]
ChrX:153585968..153585969 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.4179G>A (p.Glu1393=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002316967]|Heterotopia, periventricular, X-linked dominant [RCV001078871]|not provided [RCV000723943]|not specified [RCV003330511] |
ChrX:154359370 [GRCh38]
ChrX:153587738 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.3064C>G (p.Pro1022Ala) |
single nucleotide variant |
FLNA-related disorder [RCV004537395]|Familial thoracic aortic aneurysm and aortic dissection [RCV002312716]|Heterotopia, periventricular, X-linked dominant [RCV001441159]|not provided [RCV001697161]|not specified [RCV000176182] |
ChrX:154361451 [GRCh38]
ChrX:153589819 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.3282C>G (p.Gly1094=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002321696]|Heterotopia, periventricular, X-linked dominant [RCV001492722]|not provided [RCV000176285] |
ChrX:154360513 [GRCh38]
ChrX:153588881 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.3285C>T (p.Ala1095=) |
single nucleotide variant |
FLNA-related disorder [RCV004734786]|Familial thoracic aortic aneurysm and aortic dissection [RCV002317022]|Heterotopia, periventricular, X-linked dominant [RCV001082209]|not provided [RCV000724187]|not specified [RCV000176286] |
ChrX:154360510 [GRCh38]
ChrX:153588878 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.3348C>A (p.Asp1116Glu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002517695]|not provided [RCV000723973] |
ChrX:154360447 [GRCh38]
ChrX:153588815 [GRCh37]
ChrX:Xq28 |
pathogenic|likely pathogenic|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.2613C>T (p.Asp871=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002426921]|Heterotopia, periventricular, X-linked dominant [RCV001088605]|not provided [RCV000711668]|not specified [RCV000192424] |
ChrX:154362285 [GRCh38]
ChrX:153590653 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.623-7G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001481245]|not provided [RCV000724477]|not specified [RCV000178164] |
ChrX:154367745 [GRCh38]
ChrX:153596113 [GRCh37]
ChrX:Xq28 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.6691G>A (p.Gly2231Arg) |
single nucleotide variant |
not provided [RCV000178427] |
ChrX:154352259 [GRCh38]
ChrX:153580627 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6516G>A (p.Gln2172=) |
single nucleotide variant |
FLNA-related disorder [RCV004537463]|Familial thoracic aortic aneurysm and aortic dissection [RCV002362914]|Heterotopia, periventricular, X-linked dominant [RCV000862023]|not provided [RCV001812157]|not specified [RCV000178428] |
ChrX:154352434 [GRCh38]
ChrX:153580802 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001110556.2(FLNA):c.6871G>A (p.Gly2291Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002362915]|Heterotopia, periventricular, X-linked dominant [RCV002228788]|Intellectual disability [RCV001252501]|not provided [RCV000178456] |
ChrX:154351920 [GRCh38]
ChrX:153580288 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.6997C>T (p.Arg2333Cys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002054117]|not provided [RCV000178490] |
ChrX:154351607 [GRCh38]
ChrX:153579975 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.7013C>G (p.Ser2338Cys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002362916]|Heterotopia, periventricular, X-linked dominant [RCV001338631]|not provided [RCV000724800]|not specified [RCV000198176] |
ChrX:154351591 [GRCh38]
ChrX:153579959 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.7222G>A (p.Gly2408Ser) |
single nucleotide variant |
FLNA-related disorder [RCV004537467]|Familial thoracic aortic aneurysm and aortic dissection [RCV004020125]|Heterotopia, periventricular, X-linked dominant [RCV000640794]|not provided [RCV001528657]|not specified [RCV000178548] |
ChrX:154350142 [GRCh38]
ChrX:153578510 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001110556.2(FLNA):c.7506C>T (p.Gly2502=) |
single nucleotide variant |
FLNA-related disorder [RCV004537470]|Familial thoracic aortic aneurysm and aortic dissection [RCV004020126]|Heterotopia, periventricular, X-linked dominant [RCV000640806]|not provided [RCV001704852]|not specified [RCV000178571] |
ChrX:154349695 [GRCh38]
ChrX:153578063 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001110556.2(FLNA):c.7686C>T (p.Ala2562=) |
single nucleotide variant |
FLNA-related disorder [RCV004537471]|Familial thoracic aortic aneurysm and aortic dissection [RCV004020128]|Heterotopia, periventricular, X-linked dominant [RCV000469779]|not provided [RCV001701541]|not specified [RCV000178598] |
ChrX:154349432 [GRCh38]
ChrX:153577800 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.7878C>T (p.Tyr2626=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002408771]|Heterotopia, periventricular, X-linked dominant [RCV001440632]|not provided [RCV000178621] |
ChrX:154348915 [GRCh38]
ChrX:153577283 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.7794G>A (p.Arg2598=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002408772]|Heterotopia, periventricular, X-linked dominant [RCV002516777]|not provided [RCV000178622] |
ChrX:154348999 [GRCh38]
ChrX:153577367 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.733G>A (p.Glu245Lys) |
single nucleotide variant |
Frontometaphyseal dysplasia 1 [RCV004786491]|Heterotopia, periventricular, X-linked dominant [RCV001312936]|not provided [RCV000178845] |
ChrX:154367532 [GRCh38]
ChrX:153595900 [GRCh37]
ChrX:Xq28 |
likely pathogenic|uncertain significance |
| NM_001110556.2(FLNA):c.732C>T (p.Pro244=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002314650]|Heterotopia, periventricular, X-linked dominant [RCV000546823]|not provided [RCV001721124]|not specified [RCV000178846] |
ChrX:154367533 [GRCh38]
ChrX:153595901 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV000764865]|Familial thoracic aortic aneurysm and aortic dissection [RCV002372101]|Heterotopia, periventricular, X-linked dominant [RCV000471973]|not provided [RCV000723962]|not specified [RCV000221578] |
ChrX:154366818 [GRCh38]
ChrX:153595186 [GRCh37]
ChrX:Xq28 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.1029C>T (p.Ser343=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004020157]|Heterotopia, periventricular, X-linked dominant [RCV001082645]|not provided [RCV000762689]|not specified [RCV000192632] |
ChrX:154366598 [GRCh38]
ChrX:153594966 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.4737G>C (p.Leu1579=) |
single nucleotide variant |
Connective tissue disorder [RCV000680537]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314623]|Heterotopia, periventricular, X-linked dominant [RCV000640781]|not provided [RCV001704262]|not specified [RCV000176854] |
ChrX:154358217 [GRCh38]
ChrX:153586585 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001110556.2(FLNA):c.3876C>T (p.His1292=) |
single nucleotide variant |
Connective tissue disorder [RCV000680540]|Familial thoracic aortic aneurysm and aortic dissection [RCV004020094]|Heterotopia, periventricular, X-linked dominant [RCV001080814]|not provided [RCV000757311]|not specified [RCV000176381] |
ChrX:154359835 [GRCh38]
ChrX:153588203 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 |
copy number gain |
See cases [RCV000240122] |
ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_001110556.2(FLNA):c.6412G>T (p.Gly2138Cys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002314640]|Heterotopia, periventricular, X-linked dominant [RCV001087795]|not provided [RCV000724209] |
ChrX:154352643 [GRCh38]
ChrX:153581011 [GRCh37]
ChrX:Xq28 |
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.5451G>A (p.Gln1817=) |
single nucleotide variant |
not specified [RCV000192745] |
ChrX:154354257 [GRCh38]
ChrX:153582625 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 |
copy number gain |
See cases [RCV000240143] |
ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28 |
pathogenic |
| NM_001110556.2(FLNA):c.1238C>T (p.Thr413Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002314817]|Heterotopia, periventricular, X-linked dominant [RCV001041470]|not provided [RCV001566737]|not specified [RCV000193102] |
ChrX:154366215 [GRCh38]
ChrX:153594583 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.3717C>T (p.Pro1239=) |
single nucleotide variant |
FLNA-related disorder [RCV004541240]|Familial thoracic aortic aneurysm and aortic dissection [RCV002345692]|Heterotopia, periventricular, X-linked dominant [RCV000860929]|not provided [RCV001651057]|not specified [RCV000193642] |
ChrX:154360078 [GRCh38]
ChrX:153588446 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.2504C>T (p.Thr835Met) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002517935]|not specified [RCV000193730] |
ChrX:154362479 [GRCh38]
ChrX:153590847 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5592C>T (p.Asn1864=) |
single nucleotide variant |
FLNA-related disorder [RCV004541241]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314818]|Heterotopia, periventricular, X-linked dominant [RCV001521450]|not provided [RCV003436989]|not specified [RCV000193976] |
ChrX:154354009 [GRCh38]
ChrX:153582377 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.1372G>A (p.Val458Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001731512]|Heterotopia, periventricular, X-linked dominant [RCV002229018]|not provided [RCV003237759]|not specified [RCV000194338] |
ChrX:154366081 [GRCh38]
ChrX:153594449 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.66C>T (p.Asp22=) |
single nucleotide variant |
FLNA-related disorder [RCV004530114]|Familial thoracic aortic aneurysm and aortic dissection [RCV002317682]|Heterotopia, periventricular, X-linked dominant [RCV001520948]|not provided [RCV001697271]|not specified [RCV000194522] |
ChrX:154371180 [GRCh38]
ChrX:153599548 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.2538C>T (p.Tyr846=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001450134]|not specified [RCV000194585] |
ChrX:154362445 [GRCh38]
ChrX:153590813 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.6502+7G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002517936]|not specified [RCV000195066] |
ChrX:154352546 [GRCh38]
ChrX:153580914 [GRCh37]
ChrX:Xq28 |
pathogenic|benign|likely benign |
| NM_001110556.2(FLNA):c.5763C>T (p.Ser1921=) |
single nucleotide variant |
FLNA-related disorder [RCV004530113]|Familial thoracic aortic aneurysm and aortic dissection [RCV002345693]|Heterotopia, periventricular, X-linked dominant [RCV000956488]|not provided [RCV003436990]|not specified [RCV000195181] |
ChrX:154353651 [GRCh38]
ChrX:153582019 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.622G>C (p.Gly208Arg) |
single nucleotide variant |
HETEROTOPIA, PERIVENTRICULAR NODULAR, X-LINKED DOMINANT, WITH MELNICK-NEEDLES SYNDROME [RCV000191017] |
ChrX:154367842 [GRCh38]
ChrX:153596210 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV000191086]|Heterotopia, periventricular, X-linked dominant [RCV000794294]|not provided [RCV003480546] |
ChrX:154358228 [GRCh38]
ChrX:153586596 [GRCh37]
ChrX:Xq28 |
pathogenic|likely pathogenic |
| NM_001110556.2(FLNA):c.4222G>A (p.Gly1408Ser) |
single nucleotide variant |
not provided [RCV001571620]|not specified [RCV000192676] |
ChrX:154359327 [GRCh38]
ChrX:153587695 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6719A>G (p.Lys2240Arg) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV000764861]|Familial thoracic aortic aneurysm and aortic dissection [RCV004020317]|Heterotopia, periventricular, X-linked dominant [RCV000660360]|Heterotopia, periventricular, X-linked dominant [RCV000806824]|not provided [RCV001843491]|not specified [RCV000193289] |
ChrX:154352231 [GRCh38]
ChrX:153580599 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.6263G>A (p.Ser2088Asn) |
single nucleotide variant |
not specified [RCV000193842] |
ChrX:154352888 [GRCh38]
ChrX:153581256 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4517C>T (p.Thr1506Ile) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV003224214]|Heterotopia, periventricular, X-linked dominant [RCV002229019]|not provided [RCV003736630]|not specified [RCV000194760] |
ChrX:154358526 [GRCh38]
ChrX:153586894 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.7221C>T (p.Asn2407=) |
single nucleotide variant |
Connective tissue disorder [RCV000659675]|Familial thoracic aortic aneurysm and aortic dissection [RCV002372172]|Heterotopia, periventricular, X-linked dominant [RCV000640784]|not specified [RCV000200207] |
ChrX:154350143 [GRCh38]
ChrX:153578511 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.1309C>T (p.Arg437Trp) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002228872] |
ChrX:154366144 [GRCh38]
ChrX:153594512 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.4327C>A (p.His1443Asn) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001057778]|not provided [RCV001705110] |
ChrX:154359131 [GRCh38]
ChrX:153587499 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.7135T>C (p.Tyr2379His) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004020369]|Heterotopia, periventricular, X-linked dominant [RCV001065255]|not specified [RCV003330567] |
ChrX:154350930 [GRCh38]
ChrX:153579298 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.2361C>G (p.His787Gln) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001242749]|not provided [RCV000196596] |
ChrX:154362704 [GRCh38]
ChrX:153591072 [GRCh37]
ChrX:Xq28 |
pathogenic|benign|uncertain significance |
| NM_001110556.2(FLNA):c.1654G>A (p.Val552Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001246311] |
ChrX:154365173 [GRCh38]
ChrX:153593541 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.500C>A (p.Thr167Asn) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003765250]|not provided [RCV000196613] |
ChrX:154367964 [GRCh38]
ChrX:153596332 [GRCh37]
ChrX:Xq28 |
likely pathogenic|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.6314C>G (p.Thr2105Ser) |
single nucleotide variant |
FLNA-related disorder [RCV004530157]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315599]|Heterotopia, periventricular, X-linked dominant [RCV001089214]|not provided [RCV000196682] |
ChrX:154352837 [GRCh38]
ChrX:153581205 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.3259C>T (p.Arg1087Cys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001396171]|not provided [RCV000200512] |
ChrX:154360536 [GRCh38]
ChrX:153588904 [GRCh37]
ChrX:Xq28 |
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.3805+16G>A |
single nucleotide variant |
Connective tissue disorder [RCV000659665]|Heterotopia, periventricular, X-linked dominant [RCV002054301]|not provided [RCV001812197]|not specified [RCV000200574] |
ChrX:154359974 [GRCh38]
ChrX:153588342 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.6964G>A (p.Val2322Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004822937]|Heterotopia, periventricular, X-linked dominant [RCV002029943] |
ChrX:154351640 [GRCh38]
ChrX:153580008 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.3387C>T (p.Thr1129=) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV002478683]|FLNA-related disorder [RCV004541256]|Familial thoracic aortic aneurysm and aortic dissection [RCV002453719]|Heterotopia, periventricular, X-linked dominant [RCV001085138]|not provided [RCV000711669]|not specified [RCV000200628] |
ChrX:154360408 [GRCh38]
ChrX:153588776 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.-19dup |
duplication |
not specified [RCV000200658] |
ChrX:154371263..154371264 [GRCh38]
ChrX:153599631..153599632 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.2410G>A (p.Val804Ile) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV002492894]|Heterotopia, periventricular, X-linked dominant [RCV002228871]|not provided [RCV000200669] |
ChrX:154362573 [GRCh38]
ChrX:153590941 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.1771G>A (p.Val591Ile) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002408867]|Heterotopia, periventricular, X-linked dominant [RCV000868360]|Microcephaly [RCV001252920] |
ChrX:154364878 [GRCh38]
ChrX:153593246 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.3408dup (p.Asn1137fs) |
duplication |
not provided [RCV000196857] |
ChrX:154360386..154360387 [GRCh38]
ChrX:153588754..153588755 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.3308C>T (p.Thr1103Met) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001046907]|not provided [RCV000196871] |
ChrX:154360487 [GRCh38]
ChrX:153588855 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.-116-3C>A |
single nucleotide variant |
not provided [RCV000505731] |
ChrX:154371364 [GRCh38]
ChrX:153599732 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1716C>T (p.Thr572=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002315595]|Heterotopia, periventricular, X-linked dominant [RCV000527167]|not provided [RCV001812194]|not specified [RCV000196994] |
ChrX:154364933 [GRCh38]
ChrX:153593301 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001456.3(FLNA):c.2996G>A (p.Gly999Asp) |
single nucleotide variant |
not specified [RCV000200792] |
ChrX:154361519 [GRCh38]
ChrX:153589887 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1621G>A (p.Glu541Lys) |
single nucleotide variant |
FLNA-related disorder [RCV004530162]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315603]|Heterotopia, periventricular, X-linked dominant [RCV002228873]|Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked [RCV001804931]|not provided [RCV000200807] |
ChrX:154365206 [GRCh38]
ChrX:153593574 [GRCh37]
ChrX:Xq28 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.2813C>T (p.Thr938Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002315598]|Heterotopia, periventricular, X-linked dominant [RCV000474233]|not provided [RCV000197050]|not specified [RCV001818467] |
ChrX:154361992 [GRCh38]
ChrX:153590360 [GRCh37]
ChrX:Xq28 |
likely pathogenic|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.7267C>T (p.Pro2423Ser) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV002500606]|Connective tissue disorder [RCV000659676]|FLNA-related disorder [RCV004530158]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315600]|Heterotopia, periventricular, X-linked dominant [RCV001083295]|not provided [RCV000424564]|not specified [RCV000197144] |
ChrX:154350097 [GRCh38]
ChrX:153578465 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.4082A>G (p.His1361Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003298256]|Heterotopia, periventricular, X-linked dominant [RCV001089123]|not provided [RCV000197214] |
ChrX:154359544 [GRCh38]
ChrX:153587912 [GRCh37]
ChrX:Xq28 |
pathogenic|likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.7903G>A (p.Glu2635Lys) |
single nucleotide variant |
Abnormality of neuronal migration [RCV000201336]|Familial thoracic aortic aneurysm and aortic dissection [RCV004821998]|Heterotopia, periventricular, X-linked dominant [RCV000866800]|not provided [RCV001553477]|not specified [RCV003987436] |
ChrX:154348890 [GRCh38]
ChrX:153577258 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 |
copy number gain |
See cases [RCV000239843] |
ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_001110556.2(FLNA):c.6967G>A (p.Val2323Met) |
single nucleotide variant |
not provided [RCV000197351] |
ChrX:154351637 [GRCh38]
ChrX:153580005 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2925G>C (p.Lys975Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002433879]|Heterotopia, periventricular, X-linked dominant [RCV001312410]|not provided [RCV001705114] |
ChrX:154361689 [GRCh38]
ChrX:153590057 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.62_64dup (p.Val21dup) |
duplication |
Connective tissue disorder [RCV000680546]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315597]|Heterotopia, periventricular, X-linked dominant [RCV000464227]|not provided [RCV001573777]|not specified [RCV000197428] |
ChrX:154371181..154371182 [GRCh38]
ChrX:153599549..153599550 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.854G>A (p.Arg285His) |
single nucleotide variant |
not provided [RCV000197453] |
ChrX:154367411 [GRCh38]
ChrX:153595779 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1829-13T>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002054300]|not provided [RCV001812195]|not specified [RCV000197491] |
ChrX:154364732 [GRCh38]
ChrX:153593100 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.5313+4C>T |
single nucleotide variant |
FLNA-related disorder [RCV004541257]|Familial thoracic aortic aneurysm and aortic dissection [RCV004020364]|Heterotopia, periventricular, X-linked dominant [RCV000475021]|not provided [RCV001573909]|not specified [RCV000197562] |
ChrX:154354612 [GRCh38]
ChrX:153582980 [GRCh37]
ChrX:Xq28 |
likely pathogenic|benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.569G>A (p.Arg190Gln) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV000764866]|Heterotopia, periventricular, X-linked dominant [RCV001350783]|not provided [RCV000197586] |
ChrX:154367895 [GRCh38]
ChrX:153596263 [GRCh37]
ChrX:Xq28 |
pathogenic|likely pathogenic|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.7927C>T (p.Arg2643Cys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002229481]|not provided [RCV000197706] |
ChrX:154348866 [GRCh38]
ChrX:153577234 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.942A>G (p.Gly314=) |
single nucleotide variant |
FLNA-related disorder [RCV004541258]|Familial thoracic aortic aneurysm and aortic dissection [RCV004020365]|Heterotopia, periventricular, X-linked dominant [RCV000757309]|not provided [RCV001812198]|not specified [RCV000197886] |
ChrX:154366777 [GRCh38]
ChrX:153595145 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.4594C>T (p.Arg1532Trp) |
single nucleotide variant |
Connective tissue disorder [RCV000659668]|FLNA-related disorder [RCV004530156]|Familial thoracic aortic aneurysm and aortic dissection [RCV002317719]|Heterotopia, periventricular, X-linked dominant [RCV000640797]|not provided [RCV003114353]|not specified [RCV001818468] |
ChrX:154358449 [GRCh38]
ChrX:153586817 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.3634C>T (p.His1212Tyr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001853154]|not provided [RCV000197967] |
ChrX:154360161 [GRCh38]
ChrX:153588529 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6387dup (p.Phe2130fs) |
duplication |
not provided [RCV000198038] |
ChrX:154352667..154352668 [GRCh38]
ChrX:153581035..153581036 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.2254_2268delinsCACCCTGAAGGG (p.Val752_Asn756delinsHisProGluGly) |
indel |
not specified [RCV000198088] |
ChrX:154364034..154364048 [GRCh38]
ChrX:153592402..153592416 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2205C>T (p.Tyr735=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003298255]|Heterotopia, periventricular, X-linked dominant [RCV000640796]|not specified [RCV000198128] |
ChrX:154364097 [GRCh38]
ChrX:153592465 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.2123G>A (p.Arg708Gln) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002317718]|Heterotopia, periventricular, X-linked dominant [RCV000844958]|Heterotopia, periventricular, X-linked dominant [RCV001853153]|not provided [RCV001711508]|not specified [RCV001818466] |
ChrX:154364272 [GRCh38]
ChrX:153592640 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_001110556.2(FLNA):c.6350A>G (p.Asn2117Ser) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV003224220]|Familial thoracic aortic aneurysm and aortic dissection [RCV004020368]|Heterotopia, periventricular, X-linked dominant [RCV000549769]|not provided [RCV001701705]|not specified [RCV001818469] |
ChrX:154352801 [GRCh38]
ChrX:153581169 [GRCh37]
ChrX:Xq28 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.2330C>G (p.Pro777Arg) |
single nucleotide variant |
not provided [RCV000198332] |
ChrX:154362735 [GRCh38]
ChrX:153591103 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3208-5del |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV002515362]|not specified [RCV000198394] |
ChrX:154360592 [GRCh38]
ChrX:153588960 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001110556.2(FLNA):c.5587G>A (p.Val1863Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002517179]|not provided [RCV000198414] |
ChrX:154354014 [GRCh38]
ChrX:153582382 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.7941_7942del (p.Ter2648SerextTer?) |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV003333048]|Heterotopia, periventricular, X-linked dominant [RCV003765249]|not provided [RCV000198493] |
ChrX:154348851..154348852 [GRCh38]
ChrX:153577219..153577220 [GRCh37]
ChrX:Xq28 |
pathogenic|likely pathogenic |
| NM_001110556.2(FLNA):c.2845G>A (p.Val949Ile) |
single nucleotide variant |
FLNA-related disorder [RCV004530155]|Familial thoracic aortic aneurysm and aortic dissection [RCV004020367]|Heterotopia, periventricular, X-linked dominant [RCV000456996]|not provided [RCV001705111] |
ChrX:154361769 [GRCh38]
ChrX:153590137 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.2843A>G (p.Asn948Ser) |
single nucleotide variant |
FLNA-related disorder [RCV004541255]|Familial thoracic aortic aneurysm and aortic dissection [RCV002433878]|Heterotopia, periventricular, X-linked dominant [RCV000867960]|not specified [RCV000198619] |
ChrX:154361771 [GRCh38]
ChrX:153590139 [GRCh37]
ChrX:Xq28 |
likely pathogenic|benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.1451G>A (p.Arg484Gln) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004020371]|Heterotopia, periventricular, X-linked dominant [RCV000549670]|Heterotopia, periventricular, X-linked dominant [RCV001358666]|not provided [RCV000198621] |
ChrX:154365465 [GRCh38]
ChrX:153593833 [GRCh37]
ChrX:Xq28 |
likely pathogenic|benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.6907+14G>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002054302]|not provided [RCV002227093]|not specified [RCV000198709] |
ChrX:154351870 [GRCh38]
ChrX:153580238 [GRCh37]
ChrX:Xq28 |
likely pathogenic|benign|likely benign |
| NM_001110556.2(FLNA):c.1291G>C (p.Glu431Gln) |
single nucleotide variant |
FLNA-related disorder [RCV004541259]|Familial thoracic aortic aneurysm and aortic dissection [RCV002381669]|Heterotopia, periventricular, X-linked dominant [RCV002229105]|not provided [RCV001721274]|not specified [RCV000198798] |
ChrX:154366162 [GRCh38]
ChrX:153594530 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.6023-10C>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001086916]|not provided [RCV000514530]|not specified [RCV000193035] |
ChrX:154353214 [GRCh38]
ChrX:153581582 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001110556.2(FLNA):c.7649C>T (p.Pro2550Leu) |
single nucleotide variant |
FLNA-related disorder [RCV004530159]|Familial thoracic aortic aneurysm and aortic dissection [RCV002317721]|Heterotopia, periventricular, X-linked dominant [RCV001411241]|not provided [RCV000464368] |
ChrX:154349469 [GRCh38]
ChrX:153577837 [GRCh37]
ChrX:Xq28 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.7450C>T (p.Arg2484Cys) |
single nucleotide variant |
FLNA-related disorder [RCV004530161]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315602]|Heterotopia, periventricular, X-linked dominant [RCV001086641]|not provided [RCV000640791] |
ChrX:154349751 [GRCh38]
ChrX:153578119 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.3230T>C (p.Leu1077Pro) |
single nucleotide variant |
not provided [RCV000198980] |
ChrX:154360565 [GRCh38]
ChrX:153588933 [GRCh37]
ChrX:Xq28 |
likely pathogenic|uncertain significance |
| NM_001110556.2(FLNA):c.3421G>A (p.Ala1141Thr) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV002503765]|Connective tissue disorder [RCV000659663]|Familial thoracic aortic aneurysm and aortic dissection [RCV002453720]|Heterotopia, periventricular, X-linked dominant [RCV000227564]|not provided [RCV001705112] |
ChrX:154360374 [GRCh38]
ChrX:153588742 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.6601del (p.Arg2201fs) |
deletion |
not provided [RCV000199101] |
ChrX:154352349 [GRCh38]
ChrX:153580717 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.4997T>C (p.Ile1666Thr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001316709]|not provided [RCV000195541] |
ChrX:154355045 [GRCh38]
ChrX:153583413 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.1044C>T (p.Pro348=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002399727]|Heterotopia, periventricular, X-linked dominant [RCV000860930]|not provided [RCV001579968]|not specified [RCV000195657] |
ChrX:154366583 [GRCh38]
ChrX:153594951 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.1768G>A (p.Val590Ile) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004822015]|Heterotopia, periventricular, X-linked dominant [RCV001499994]|Heterotopia, periventricular, X-linked dominant [RCV001836752]|not specified [RCV000199201] |
ChrX:154364881 [GRCh38]
ChrX:153593249 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.6218G>A (p.Arg2073His) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001213910]|not provided [RCV000505773] |
ChrX:154353009 [GRCh38]
ChrX:153581377 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.4945+12C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002057033]|not specified [RCV000199290] |
ChrX:154357422 [GRCh38]
ChrX:153585790 [GRCh37]
ChrX:Xq28 |
pathogenic|benign|likely benign |
| NM_001456.3(FLNA):c.509A>C (p.Gln170Pro) |
single nucleotide variant |
not provided [RCV000199318] |
ChrX:154367955 [GRCh38]
ChrX:153596323 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.4494C>T (p.Asp1498=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004020362]|Heterotopia, periventricular, X-linked dominant [RCV001085562]|not provided [RCV000711671]|not specified [RCV000199346] |
ChrX:154358549 [GRCh38]
ChrX:153586917 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.7520T>C (p.Ile2507Thr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001853156]|not provided [RCV000723196] |
ChrX:154349681 [GRCh38]
ChrX:153578049 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.7067G>A (p.Ser2356Asn) |
single nucleotide variant |
FLNA-related disorder [RCV004530160]|Familial thoracic aortic aneurysm and aortic dissection [RCV004020370]|Heterotopia, periventricular, X-linked dominant [RCV001511862]|not provided [RCV000756178] |
ChrX:154350998 [GRCh38]
ChrX:153579366 [GRCh37]
ChrX:Xq28 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.1998G>A (p.Ala666=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004020361]|Heterotopia, periventricular, X-linked dominant [RCV000470410]|not provided [RCV001812196]|not specified [RCV000195769] |
ChrX:154364550 [GRCh38]
ChrX:153592918 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.3617A>G (p.Glu1206Gly) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003796767] |
ChrX:154360178 [GRCh38]
ChrX:153588546 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2190_2193del (p.Tyr731fs) |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV002517180]|not provided [RCV000195861] |
ChrX:154364109..154364112 [GRCh38]
ChrX:153592477..153592480 [GRCh37]
ChrX:Xq28 |
pathogenic|likely pathogenic |
| NM_001110556.2(FLNA):c.4666A>G (p.Asn1556Asp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002315601]|Heterotopia, periventricular, X-linked dominant [RCV002515364]|not provided [RCV000199423] |
ChrX:154358288 [GRCh38]
ChrX:153586656 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.3887G>A (p.Arg1296His) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001853155]|not provided [RCV000199516] |
ChrX:154359824 [GRCh38]
ChrX:153588192 [GRCh37]
ChrX:Xq28 |
likely pathogenic|uncertain significance |
| NM_001110556.2(FLNA):c.3921del (p.Tyr1308fs) |
deletion |
not provided [RCV000199592] |
ChrX:154359790 [GRCh38]
ChrX:153588158 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser) |
single nucleotide variant |
Connective tissue disorder [RCV000680536]|Familial thoracic aortic aneurysm and aortic dissection [RCV004020363]|Heterotopia, periventricular, X-linked dominant [RCV001084884]|not provided [RCV000473909]|not specified [RCV000196068] |
ChrX:154354678 [GRCh38]
ChrX:153583046 [GRCh37]
ChrX:Xq28 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.542C>T (p.Pro181Leu) |
single nucleotide variant |
not provided [RCV000196084] |
ChrX:154367922 [GRCh38]
ChrX:153596290 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1813G>A (p.Asp605Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002408868]|Heterotopia, periventricular, X-linked dominant [RCV001080454]|not provided [RCV000514558]|not specified [RCV000196132] |
ChrX:154364836 [GRCh38]
ChrX:153593204 [GRCh37]
ChrX:Xq28 |
pathogenic|likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.3406A>G (p.Ile1136Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001853151]|not specified [RCV000196168] |
ChrX:154360389 [GRCh38]
ChrX:153588757 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.1200G>T (p.Lys400Asn) |
single nucleotide variant |
Connective tissue disorder [RCV000680543]|FLNA-related disorder [RCV004545760]|Heterotopia, periventricular, X-linked dominant [RCV001857719]|not provided [RCV000199704] |
ChrX:154366336 [GRCh38]
ChrX:153594704 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance|not provided |
| NM_001110556.2(FLNA):c.2162C>T (p.Ala721Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002415839]|Heterotopia, periventricular, X-linked dominant [RCV001043087]|not provided [RCV000727059] |
ChrX:154364140 [GRCh38]
ChrX:153592508 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.1616G>A (p.Gly539Asp) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001853152]|not provided [RCV000199879] |
ChrX:154365211 [GRCh38]
ChrX:153593579 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.462G>T (p.Met154Ile) |
single nucleotide variant |
not provided [RCV000199904] |
ChrX:154368002 [GRCh38]
ChrX:153596370 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3207+14G>A |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV002500605]|Heterotopia, periventricular, X-linked dominant [RCV002057032]|not specified [RCV000196227] |
ChrX:154361294 [GRCh38]
ChrX:153589662 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.5342A>G (p.Asn1781Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002317720]|Heterotopia, periventricular, X-linked dominant [RCV000640752]|not provided [RCV001705113]|not specified [RCV003993882] |
ChrX:154354455 [GRCh38]
ChrX:153582823 [GRCh37]
ChrX:Xq28 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.7410C>A (p.Ser2470=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002381668]|Heterotopia, periventricular, X-linked dominant [RCV000863849]|not provided [RCV001579552]|not specified [RCV000196312] |
ChrX:154349791 [GRCh38]
ChrX:153578159 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.7898_7900del (p.Gly2633del) |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV001252502]|Heterotopia, periventricular, X-linked dominant [RCV001340749] |
ChrX:154348893..154348895 [GRCh38]
ChrX:153577261..153577263 [GRCh37]
ChrX:Xq28 |
likely pathogenic|uncertain significance |
| NM_001110556.2(FLNA):c.4071_4074dup (p.Arg1359fs) |
duplication |
not provided [RCV000196372] |
ChrX:154359551..154359552 [GRCh38]
ChrX:153587919..153587920 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.2516C>T (p.Thr839Met) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV002492893]|FLNA-related disorder [RCV004530154]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315596]|Heterotopia, periventricular, X-linked dominant [RCV000459375]|not provided [RCV001705109] |
ChrX:154362467 [GRCh38]
ChrX:153590835 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.1366G>A (p.Val456Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002381670]|Heterotopia, periventricular, X-linked dominant [RCV002229106]|Melnick-Needles syndrome [RCV001253466]|not provided [RCV000196428] |
ChrX:154366087 [GRCh38]
ChrX:153594455 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.1267C>T (p.Pro423Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000509373]|Heterotopia, periventricular, X-linked dominant [RCV001359848] |
ChrX:154366186 [GRCh38]
ChrX:153594554 [GRCh37]
ChrX:Xq28 |
uncertain significance|not provided |
| NM_001110556.2(FLNA):c.6088G>A (p.Val2030Met) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003765248]|not provided [RCV000199955] |
ChrX:154353139 [GRCh38]
ChrX:153581507 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.1191C>T (p.Ile397=) |
single nucleotide variant |
Connective tissue disorder [RCV000659653]|Familial thoracic aortic aneurysm and aortic dissection [RCV004020366]|Heterotopia, periventricular, X-linked dominant [RCV001084931]|not provided [RCV000725233]|not specified [RCV000200054] |
ChrX:154366345 [GRCh38]
ChrX:153594713 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.5155A>C (p.Lys1719Gln) |
single nucleotide variant |
not provided [RCV000200140] |
ChrX:154354887 [GRCh38]
ChrX:153583255 [GRCh37]
ChrX:Xq28 |
likely pathogenic|uncertain significance |
| NM_001110556.2(FLNA):c.2467G>A (p.Asp823Asn) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV001195903]|Heterotopia, periventricular, X-linked dominant [RCV003770199] |
ChrX:154362516 [GRCh38]
ChrX:153590884 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| GRCh37/hg19 Xq28(chrX:153588672-153613200)x2 |
copy number gain |
See cases [RCV000240163] |
ChrX:153588672..153613200 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5428A>G (p.Met1810Val) |
single nucleotide variant |
FLNA-related disorder [RCV004538469]|Heterotopia, periventricular, X-linked dominant [RCV001223142] |
ChrX:154354280 [GRCh38]
ChrX:153582648 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 |
copy number loss |
See cases [RCV000239832] |
ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 |
copy number gain |
See cases [RCV000239798] |
ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28 |
pathogenic |
| NM_001110556.2(FLNA):c.7059T>G (p.Phe2353Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002315638]|Heterotopia, periventricular, X-linked dominant [RCV001349236] |
ChrX:154351006 [GRCh38]
ChrX:153579374 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.338T>C (p.Phe113Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002232255] |
ChrX:154370908 [GRCh38]
ChrX:153599276 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4596_4598+5del |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV002232261] |
ChrX:154358440..154358447 [GRCh38]
ChrX:153586808..153586815 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.2309A>G (p.Asn770Ser) |
single nucleotide variant |
Oto-palato-digital syndrome, type I [RCV000578163]|not provided [RCV004787965] |
ChrX:154362756 [GRCh38]
ChrX:153591124 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.1071T>C (p.Thr357=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002312744]|Heterotopia, periventricular, X-linked dominant [RCV002060901] |
ChrX:154366465 [GRCh38]
ChrX:153594833 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3515G>A (p.Arg1172Gln) |
single nucleotide variant |
not provided [RCV000756181] |
ChrX:154360280 [GRCh38]
ChrX:153588648 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3934C>T (p.Arg1312Cys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002370002]|Heterotopia, periventricular, X-linked dominant [RCV001219151]|Hydronephrosis [RCV000754796]|not provided [RCV004588162]|not specified [RCV003987692] |
ChrX:154359777 [GRCh38]
ChrX:153588145 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.1462C>T (p.Arg488Trp) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001855871]|not provided [RCV000756179] |
ChrX:154365454 [GRCh38]
ChrX:153593822 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.444C>T (p.Tyr148=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002231780] |
ChrX:154368020 [GRCh38]
ChrX:153596388 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6219C>T (p.Arg2073=) |
single nucleotide variant |
FLNA-related disorder [RCV004537971]|Familial thoracic aortic aneurysm and aortic dissection [RCV002367846]|Heterotopia, periventricular, X-linked dominant [RCV000550619]|not provided [RCV001551635] |
ChrX:154353008 [GRCh38]
ChrX:153581376 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7255C>T (p.Arg2419Ter) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001224993]|not provided [RCV000215801] |
ChrX:154350109 [GRCh38]
ChrX:153578477 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.6547G>A (p.Gly2183Ser) |
single nucleotide variant |
not provided [RCV000218877] |
ChrX:154352403 [GRCh38]
ChrX:153580771 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1815C>T (p.Asp605=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002413527]|Heterotopia, periventricular, X-linked dominant [RCV000552684] |
ChrX:154364834 [GRCh38]
ChrX:153593202 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2466C>T (p.Ile822=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001392128] |
ChrX:154362517 [GRCh38]
ChrX:153590885 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5124C>T (p.Phe1708=) |
single nucleotide variant |
Connective tissue disorder [RCV000659670]|Familial thoracic aortic aneurysm and aortic dissection [RCV002347883]|Heterotopia, periventricular, X-linked dominant [RCV001504056]|not provided [RCV004808647]|not specified [RCV000616591] |
ChrX:154354918 [GRCh38]
ChrX:153583286 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7195G>A (p.Val2399Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002229657]|not provided [RCV003144171] |
ChrX:154350169 [GRCh38]
ChrX:153578537 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1439C>T (p.Pro480Leu) |
single nucleotide variant |
FLNA-related disorder [RCV004532826]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311065]|Heterotopia, periventricular, X-linked dominant [RCV000640774]|not provided [RCV000224666]|not specified [RCV004701299] |
ChrX:154365477 [GRCh38]
ChrX:153593845 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.3612G>A (p.Pro1204=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002450681]|Heterotopia, periventricular, X-linked dominant [RCV000229279] |
ChrX:154360183 [GRCh38]
ChrX:153588551 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1603G>A (p.Asp535Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004020784]|Heterotopia, periventricular, X-linked dominant [RCV000229495] |
ChrX:154365224 [GRCh38]
ChrX:153593592 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.7394C>T (p.Thr2465Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001368577] |
ChrX:154349807 [GRCh38]
ChrX:153578175 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1901G>A (p.Arg634His) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000232200] |
ChrX:154364647 [GRCh38]
ChrX:153593015 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.2744C>A (p.Thr915Asn) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000232732] |
ChrX:154362061 [GRCh38]
ChrX:153590429 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.6894G>C (p.Val2298=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001447381] |
ChrX:154351897 [GRCh38]
ChrX:153580265 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4659C>T (p.Pro1553=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002317764]|Heterotopia, periventricular, X-linked dominant [RCV002057238]|not provided [RCV004808646]|not specified [RCV003479071] |
ChrX:154358295 [GRCh38]
ChrX:153586663 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.2405-4G>A |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002315698]|Heterotopia, periventricular, X-linked dominant [RCV000226047] |
ChrX:154362582 [GRCh38]
ChrX:153590950 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.3223C>T (p.Pro1075Ser) |
single nucleotide variant |
FLNA-related disorder [RCV004735793]|Heterotopia, periventricular, X-linked dominant [RCV002533127]|not provided [RCV000757310] |
ChrX:154360572 [GRCh38]
ChrX:153588940 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6230A>G (p.Tyr2077Cys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001324932]|not provided [RCV000756177] |
ChrX:154352921 [GRCh38]
ChrX:153581289 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 |
copy number gain |
See cases [RCV000240106] |
ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_001110556.2(FLNA):c.2945A>T (p.Lys982Met) |
single nucleotide variant |
not provided [RCV000520246] |
ChrX:154361570 [GRCh38]
ChrX:153589938 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3429C>G (p.Thr1143=) |
single nucleotide variant |
FLNA-related disorder [RCV004533268]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314174]|Heterotopia, periventricular, X-linked dominant [RCV000640767]|not provided [RCV001712702]|not specified [RCV001821751] |
ChrX:154360366 [GRCh38]
ChrX:153588734 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 |
copy number loss |
See cases [RCV000239902] |
ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 |
copy number gain |
See cases [RCV000239989] |
ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_001110556.2(FLNA):c.2687C>T (p.Thr896Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001367929]|not provided [RCV003229891] |
ChrX:154362118 [GRCh38]
ChrX:153590486 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3094C>T (p.Arg1032Cys) |
single nucleotide variant |
Connective tissue disorder [RCV000659661]|Heterotopia, periventricular, X-linked dominant [RCV001066358]|not provided [RCV001584517] |
ChrX:154361421 [GRCh38]
ChrX:153589789 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.4843C>T (p.Arg1615Cys) |
single nucleotide variant |
Connective tissue disorder [RCV000659669]|not provided [RCV001771918] |
ChrX:154357536 [GRCh38]
ChrX:153585904 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 |
copy number gain |
See cases [RCV000239874] |
ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_001110556.2(FLNA):c.5662G>A (p.Val1888Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003767707]|not specified [RCV000603707] |
ChrX:154353939 [GRCh38]
ChrX:153582307 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.3044C>T (p.Ala1015Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001496220]|not provided [RCV000952386] |
ChrX:154361471 [GRCh38]
ChrX:153589839 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1092C>T (p.His364=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002448870]|Heterotopia, periventricular, X-linked dominant [RCV002531523]|not specified [RCV000600834] |
ChrX:154366444 [GRCh38]
ChrX:153594812 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.830C>T (p.Pro277Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002314183]|Heterotopia, periventricular, X-linked dominant [RCV003767792]|not provided [RCV003117428] |
ChrX:154367435 [GRCh38]
ChrX:153595803 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 |
copy number gain |
See cases [RCV000239934] |
ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 |
copy number gain |
See cases [RCV000240552] |
ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_001110556.2(FLNA):c.2778C>T (p.Ile926=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002311082]|Heterotopia, periventricular, X-linked dominant [RCV002059033]|not specified [RCV000439450] |
ChrX:154362027 [GRCh38]
ChrX:153590395 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7608C>T (p.Asp2536=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002311166] |
ChrX:154349510 [GRCh38]
ChrX:153577878 [GRCh37]
ChrX:Xq28 |
likely benign |
| GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 |
copy number gain |
See cases [RCV000240314] |
ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 |
copy number gain |
See cases [RCV000240464] |
ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_001110556.2(FLNA):c.1326C>T (p.Tyr442=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002311232]|not specified [RCV000442194] |
ChrX:154366127 [GRCh38]
ChrX:153594495 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7401C>T (p.Asp2467=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002311108]|Heterotopia, periventricular, X-linked dominant [RCV003114436]|not provided [RCV003437047] |
ChrX:154349800 [GRCh38]
ChrX:153578168 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4208T>G (p.Met1403Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002311193] |
ChrX:154359341 [GRCh38]
ChrX:153587709 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1686G>A (p.Gly562=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002311207]|Heterotopia, periventricular, X-linked dominant [RCV002518734] |
ChrX:154365141 [GRCh38]
ChrX:153593509 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.76G>C (p.Ala26Pro) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002310891]|Heterotopia, periventricular, X-linked dominant [RCV001859453] |
ChrX:154371170 [GRCh38]
ChrX:153599538 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| GRCh37/hg19 Xq27.3-28(chrX:142174780-155250222)x2 |
copy number gain |
See cases [RCV000240530] |
ChrX:142174780..155250222 [GRCh37]
ChrX:Xq27.3-28 |
pathogenic |
| NM_001110556.2(FLNA):c.7604T>C (p.Val2535Ala) |
single nucleotide variant |
Cardiovascular phenotype [RCV000249081]|Heterotopia, periventricular, X-linked dominant [RCV003765562] |
ChrX:154349514 [GRCh38]
ChrX:153577882 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.4533T>C (p.Tyr1511=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002311145]|Heterotopia, periventricular, X-linked dominant [RCV000867214]|not provided [RCV000418632] |
ChrX:154358510 [GRCh38]
ChrX:153586878 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.3420C>T (p.Phe1140=) |
single nucleotide variant |
FLNA-related disorder [RCV004542942]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310915]|Heterotopia, periventricular, X-linked dominant [RCV000470023]|not provided [RCV001559583]|not specified [RCV004767201] |
ChrX:154360375 [GRCh38]
ChrX:153588743 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.234C>A (p.Ile78=) |
single nucleotide variant |
FLNA-related disorder [RCV004535230]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311138] |
ChrX:154371012 [GRCh38]
ChrX:153599380 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6936C>T (p.Asn2312=) |
single nucleotide variant |
Connective tissue disorder [RCV000680534]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311224]|Heterotopia, periventricular, X-linked dominant [RCV000861820]|not provided [RCV001711766] |
ChrX:154351668 [GRCh38]
ChrX:153580036 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.7305C>T (p.Tyr2435=) |
single nucleotide variant |
FLNA-related disorder [RCV004535229]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311129]|Heterotopia, periventricular, X-linked dominant [RCV000640805]|not provided [RCV001705396]|not specified [RCV001820796] |
ChrX:154350059 [GRCh38]
ChrX:153578427 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2379T>C (p.Thr793=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002311188]|Heterotopia, periventricular, X-linked dominant [RCV002059049] |
ChrX:154362686 [GRCh38]
ChrX:153591054 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.543G>A (p.Pro181=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313978]|Heterotopia, periventricular, X-linked dominant [RCV000640793]|not provided [RCV001582815]|not specified [RCV000251998] |
ChrX:154367921 [GRCh38]
ChrX:153596289 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.2001C>T (p.Pro667=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002311143]|Heterotopia, periventricular, X-linked dominant [RCV000918980]|not provided [RCV001707607] |
ChrX:154364547 [GRCh38]
ChrX:153592915 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3995A>G (p.Asp1332Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 2 [RCV000584552]|FLNA-related disorder [RCV004542961]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311205]|Heterotopia, periventricular, X-linked dominant [RCV000538824]|not provided [RCV001711765] |
ChrX:154359631 [GRCh38]
ChrX:153587999 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.5574C>T (p.Phe1858=) |
single nucleotide variant |
FLNA-related disorder [RCV004535222]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310947]|Heterotopia, periventricular, X-linked dominant [RCV001446073]|not provided [RCV001722375] |
ChrX:154354027 [GRCh38]
ChrX:153582395 [GRCh37]
ChrX:Xq28 |
likely benign |
| GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 |
copy number gain |
See cases [RCV000240148] |
ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28 |
pathogenic |
| GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 |
copy number loss |
See cases [RCV000240337] |
ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28 |
pathogenic |
| NM_001110556.2(FLNA):c.7796C>A (p.Thr2599Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002311136]|Heterotopia, periventricular, X-linked dominant [RCV001296877]|not provided [RCV004822029] |
ChrX:154348997 [GRCh38]
ChrX:153577365 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 |
copy number gain |
See cases [RCV000240541] |
ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_001110556.2(FLNA):c.5659A>G (p.Thr1887Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002311116]|Heterotopia, periventricular, X-linked dominant [RCV001047797] |
ChrX:154353942 [GRCh38]
ChrX:153582310 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2023-4C>G |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002317781]|Heterotopia, periventricular, X-linked dominant [RCV000545711]|not provided [RCV001699413]|not specified [RCV000249906] |
ChrX:154364376 [GRCh38]
ChrX:153592744 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.6324C>T (p.Pro2108=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002310959]|Heterotopia, periventricular, X-linked dominant [RCV001486564]|not provided [RCV001560290] |
ChrX:154352827 [GRCh38]
ChrX:153581195 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1042C>G (p.Pro348Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002311167]|Heterotopia, periventricular, X-linked dominant [RCV001859466] |
ChrX:154366585 [GRCh38]
ChrX:153594953 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.4669A>G (p.Thr1557Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002310934]|Heterotopia, periventricular, X-linked dominant [RCV002059032] |
ChrX:154358285 [GRCh38]
ChrX:153586653 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.5140G>A (p.Ala1714Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002311114] |
ChrX:154354902 [GRCh38]
ChrX:153583270 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1032C>A (p.Val344=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002311088]|Heterotopia, periventricular, X-linked dominant [RCV002518713] |
ChrX:154366595 [GRCh38]
ChrX:153594963 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3814C>T (p.Arg1272Cys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002316477]|Heterotopia, periventricular, X-linked dominant [RCV001853670]|not provided [RCV000519592] |
ChrX:154359897 [GRCh38]
ChrX:153588265 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.3638G>A (p.Gly1213Asp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002310942] |
ChrX:154360157 [GRCh38]
ChrX:153588525 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3756G>A (p.Ala1252=) |
single nucleotide variant |
FLNA-related disorder [RCV004542949]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311104]|Heterotopia, periventricular, X-linked dominant [RCV000640780]|not provided [RCV001701835]|not specified [RCV000426185] |
ChrX:154360039 [GRCh38]
ChrX:153588407 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.5907C>T (p.Ala1969=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002311123]|Heterotopia, periventricular, X-linked dominant [RCV001513806]|not provided [RCV001722377] |
ChrX:154353411 [GRCh38]
ChrX:153581779 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.885_892del (p.Asn296fs) |
deletion |
Familial thoracic aortic aneurysm and aortic dissection [RCV002310927] |
ChrX:154366827..154366834 [GRCh38]
ChrX:153595195..153595202 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.7041C>G (p.Val2347=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002310981]|Heterotopia, periventricular, X-linked dominant [RCV002518708]|not provided [RCV001723866] |
ChrX:154351024 [GRCh38]
ChrX:153579392 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2254_2268delinsCCCTTCAGGGTG (p.Val752_Asn756delinsProPheArgVal) |
indel |
Heterotopia, periventricular, X-linked dominant [RCV002232254] |
ChrX:154364034..154364048 [GRCh38]
ChrX:153592402..153592416 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6245_6248dup (p.Ile2084fs) |
duplication |
not provided [RCV000403233] |
ChrX:154352902..154352903 [GRCh38]
ChrX:153581270..153581271 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.3367T>G (p.Ser1123Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004021160]|Heterotopia, periventricular, X-linked dominant [RCV003765619]|not provided [RCV000304105] |
ChrX:154360428 [GRCh38]
ChrX:153588796 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.6175G>A (p.Glu2059Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002314025]|Heterotopia, periventricular, X-linked dominant [RCV001855201]|not provided [RCV000726126]|not specified [RCV003323495] |
ChrX:154353052 [GRCh38]
ChrX:153581420 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.6108G>A (p.Pro2036=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003765587]|not provided [RCV000276407] |
ChrX:154353119 [GRCh38]
ChrX:153581487 [GRCh37]
ChrX:Xq28 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.6770-5C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002519125]|not provided [RCV000277797] |
ChrX:154352026 [GRCh38]
ChrX:153580394 [GRCh37]
ChrX:Xq28 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.5218-4G>A |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002338858]|Heterotopia, periventricular, X-linked dominant [RCV001086540]|not provided [RCV000726349] |
ChrX:154354715 [GRCh38]
ChrX:153583083 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.1030G>A (p.Val344Ile) |
single nucleotide variant |
FLNA-related disorder [RCV004543003]|Familial thoracic aortic aneurysm and aortic dissection [RCV004822031]|Heterotopia, periventricular, X-linked dominant [RCV000557383]|not provided [RCV001571079]|not specified [RCV000346638] |
ChrX:154366597 [GRCh38]
ChrX:153594965 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001110556.2(FLNA):c.3054C>G (p.Cys1018Trp) |
single nucleotide variant |
not provided [RCV000273743] |
ChrX:154361461 [GRCh38]
ChrX:153589829 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5930_5942del (p.Glu1977fs) |
deletion |
not provided [RCV000329679] |
ChrX:154353376..154353388 [GRCh38]
ChrX:153581744..153581756 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.651C>T (p.Asp217=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002314024]|Heterotopia, periventricular, X-linked dominant [RCV000861509]|not provided [RCV001618496]|not specified [RCV000282086] |
ChrX:154367710 [GRCh38]
ChrX:153596078 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.7362G>A (p.Thr2454=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002314022]|Heterotopia, periventricular, X-linked dominant [RCV001469721]|not provided [RCV000316860] |
ChrX:154349839 [GRCh38]
ChrX:153578207 [GRCh37]
ChrX:Xq28 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.5448G>A (p.Ala1816=) |
single nucleotide variant |
FLNA-related disorder [RCV004542992]|Familial thoracic aortic aneurysm and aortic dissection [RCV004021087]|Heterotopia, periventricular, X-linked dominant [RCV001407250]|not provided [RCV000387082] |
ChrX:154354260 [GRCh38]
ChrX:153582628 [GRCh37]
ChrX:Xq28 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.627G>A (p.Leu209=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001481815]|not provided [RCV000388027] |
ChrX:154367734 [GRCh38]
ChrX:153596102 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.7612C>T (p.Leu2538=) |
single nucleotide variant |
not provided [RCV000263919] |
ChrX:154349506 [GRCh38]
ChrX:153577874 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4519C>T (p.Gln1507Ter) |
single nucleotide variant |
not provided [RCV000373412] |
ChrX:154358524 [GRCh38]
ChrX:153586892 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.6804T>C (p.Ala2268=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002365306]|Heterotopia, periventricular, X-linked dominant [RCV001088929]|not provided [RCV000324298] |
ChrX:154351987 [GRCh38]
ChrX:153580355 [GRCh37]
ChrX:Xq28 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.3708C>T (p.Gly1236=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002356391]|Heterotopia, periventricular, X-linked dominant [RCV000690045]|not provided [RCV000726216]|not specified [RCV000357488] |
ChrX:154360087 [GRCh38]
ChrX:153588455 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.5055G>A (p.Thr1685=) |
single nucleotide variant |
FLNA-related disorder [RCV004734924]|Familial thoracic aortic aneurysm and aortic dissection [RCV002338834]|Heterotopia, periventricular, X-linked dominant [RCV000863532]|not provided [RCV001651307]|not specified [RCV000260439] |
ChrX:154354987 [GRCh38]
ChrX:153583355 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.1242C>T (p.Gly414=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002059257]|not provided [RCV000293162] |
ChrX:154366211 [GRCh38]
ChrX:153594579 [GRCh37]
ChrX:Xq28 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.6993C>T (p.Asp2331=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002365323]|Heterotopia, periventricular, X-linked dominant [RCV001081583]|not provided [RCV000397344] |
ChrX:154351611 [GRCh38]
ChrX:153579979 [GRCh37]
ChrX:Xq28 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.5278C>T (p.Gln1760Ter) |
single nucleotide variant |
not provided [RCV000371928] |
ChrX:154354651 [GRCh38]
ChrX:153583019 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.4450C>T (p.Gln1484Ter) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000408810] |
ChrX:154359008 [GRCh38]
ChrX:153587376 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.6047C>T (p.Thr2016Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004021206]|Heterotopia, periventricular, X-linked dominant [RCV000702234]|not provided [RCV000300291] |
ChrX:154353180 [GRCh38]
ChrX:153581548 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.2318_2319dup (p.Val774fs) |
duplication |
not provided [RCV000336798] |
ChrX:154362745..154362746 [GRCh38]
ChrX:153591113..153591114 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.2339_2340insAA (p.Lys781fs) |
insertion |
not provided [RCV000348703] |
ChrX:154362725..154362726 [GRCh38]
ChrX:153591093..153591094 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.4551G>C (p.Gly1517=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002328790]|Heterotopia, periventricular, X-linked dominant [RCV000469573]|not provided [RCV001718589]|not specified [RCV000302505] |
ChrX:154358492 [GRCh38]
ChrX:153586860 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.6164A>T (p.Gln2055Leu) |
single nucleotide variant |
not provided [RCV000489615] |
ChrX:154353063 [GRCh38]
ChrX:153581431 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.394G>A (p.Gly132Arg) |
single nucleotide variant |
not provided [RCV000489668] |
ChrX:154368070 [GRCh38]
ChrX:153596438 [GRCh37]
ChrX:Xq28 |
likely pathogenic|uncertain significance |
| NM_001110556.2(FLNA):c.*88C>T |
single nucleotide variant |
not provided [RCV001564602] |
ChrX:154348761 [GRCh38]
ChrX:153577129 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7150G>A (p.Asp2384Asn) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002540309]|not provided [RCV001760652] |
ChrX:154350915 [GRCh38]
ChrX:153579283 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1836G>A (p.Ser612=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002072018]|not provided [RCV001548289] |
ChrX:154364712 [GRCh38]
ChrX:153593080 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4476C>T (p.Gly1492=) |
single nucleotide variant |
not provided [RCV000523763] |
ChrX:154358567 [GRCh38]
ChrX:153586935 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3185T>C (p.Val1062Ala) |
single nucleotide variant |
not provided [RCV000523817] |
ChrX:154361330 [GRCh38]
ChrX:153589698 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4898G>A (p.Arg1633His) |
single nucleotide variant |
not provided [RCV000523870] |
ChrX:154357481 [GRCh38]
ChrX:153585849 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1310G>A (p.Arg437Gln) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004024862]|Heterotopia, periventricular, X-linked dominant [RCV000863539]|not provided [RCV003437298]|not specified [RCV000594598] |
ChrX:154366143 [GRCh38]
ChrX:153594511 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.7335G>T (p.Gly2445=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003310821] |
ChrX:154349866 [GRCh38]
ChrX:153578234 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3412A>G (p.Ile1138Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002526013]|not provided [RCV000489979] |
ChrX:154360383 [GRCh38]
ChrX:153588751 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.7259T>C (p.Val2420Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002315890]|Heterotopia, periventricular, X-linked dominant [RCV000697313]|not provided [RCV000595937]|not specified [RCV003323625] |
ChrX:154350105 [GRCh38]
ChrX:153578473 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.7761C>A (p.Asn2587Lys) |
single nucleotide variant |
not provided [RCV003239266] |
ChrX:154349032 [GRCh38]
ChrX:153577400 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7725G>A (p.Lys2575=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313370]|Heterotopia, periventricular, X-linked dominant [RCV001493040] |
ChrX:154349393 [GRCh38]
ChrX:153577761 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2405-2A>G |
single nucleotide variant |
not provided [RCV000365141] |
ChrX:154362580 [GRCh38]
ChrX:153590948 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.5938C>T (p.Leu1980Phe) |
single nucleotide variant |
not provided [RCV000403976] |
ChrX:154353380 [GRCh38]
ChrX:153581748 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1107C>T (p.Pro369=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001435833]|not provided [RCV000306175] |
ChrX:154366429 [GRCh38]
ChrX:153594797 [GRCh37]
ChrX:Xq28 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.7245C>T (p.Pro2415=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001434949]|not provided [RCV000306739] |
ChrX:154350119 [GRCh38]
ChrX:153578487 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.3815G>A (p.Arg1272His) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002361023]|Heterotopia, periventricular, X-linked dominant [RCV003771952]|not provided [RCV001760445] |
ChrX:154359896 [GRCh38]
ChrX:153588264 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4237G>A (p.Glu1413Lys) |
single nucleotide variant |
not provided [RCV000353992] |
ChrX:154359312 [GRCh38]
ChrX:153587680 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1392C>T (p.Pro464=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002528639]|not specified [RCV000603481] |
ChrX:154366061 [GRCh38]
ChrX:153594429 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4577G>A (p.Gly1526Glu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002333997]|Heterotopia, periventricular, X-linked dominant [RCV001229386]|not specified [RCV000603570] |
ChrX:154358466 [GRCh38]
ChrX:153586834 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.7577G>A (p.Ser2526Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313372]|Heterotopia, periventricular, X-linked dominant [RCV001855278] |
ChrX:154349541 [GRCh38]
ChrX:153577909 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.1110C>T (p.Phe370=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002521972]|not provided [RCV000288584] |
ChrX:154366426 [GRCh38]
ChrX:153594794 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.3105C>G (p.Pro1035=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313353] |
ChrX:154361410 [GRCh38]
ChrX:153589778 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1327C>T (p.Arg443Cys) |
single nucleotide variant |
FLNA-related disorder [RCV004544770]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315931]|Heterotopia, periventricular, X-linked dominant [RCV000939350]|not provided [RCV001698027] |
ChrX:154366126 [GRCh38]
ChrX:153594494 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.5261C>T (p.Ser1754Phe) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313366]|Heterotopia, periventricular, X-linked dominant [RCV001307077] |
ChrX:154354668 [GRCh38]
ChrX:153583036 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1872C>T (p.Asp624=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003767717]|not specified [RCV000605667] |
ChrX:154364676 [GRCh38]
ChrX:153593044 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.687G>T (p.Met229Ile) |
single nucleotide variant |
not provided [RCV000359558] |
ChrX:154367674 [GRCh38]
ChrX:153596042 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1000G>A (p.Ala334Thr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001067290]|not provided [RCV000725907]|not specified [RCV000361495] |
ChrX:154366627 [GRCh38]
ChrX:153594995 [GRCh37]
ChrX:Xq28 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.6464A>T (p.Asn2155Ile) |
single nucleotide variant |
not provided [RCV000520181] |
ChrX:154352591 [GRCh38]
ChrX:153580959 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3216G>A (p.Ala1072=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002325135]|Heterotopia, periventricular, X-linked dominant [RCV001421208]|not provided [RCV000727456]|not specified [RCV004586823] |
ChrX:154360579 [GRCh38]
ChrX:153588947 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.4756-13del |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV003767601]|not specified [RCV000606382] |
ChrX:154357636 [GRCh38]
ChrX:153586004 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3260G>A (p.Arg1087His) |
single nucleotide variant |
FG syndrome 2 [RCV001332003]|Heterotopia, periventricular, X-linked dominant [RCV002233488] |
ChrX:154360535 [GRCh38]
ChrX:153588903 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.19C>T (p.Arg7Trp) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002233043]|not provided [RCV001731831] |
ChrX:154371227 [GRCh38]
ChrX:153599595 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.7738G>A (p.Val2580Ile) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004025610]|Heterotopia, periventricular, X-linked dominant [RCV000640759]|Heterotopia, periventricular, X-linked dominant [RCV003485620]|not provided [RCV002259358] |
ChrX:154349380 [GRCh38]
ChrX:153577748 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.3330G>A (p.Ala1110=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002325249]|Heterotopia, periventricular, X-linked dominant [RCV000640803]|not provided [RCV000728255] |
ChrX:154360465 [GRCh38]
ChrX:153588833 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.2323T>C (p.Tyr775His) |
single nucleotide variant |
FLNA-related disorder [RCV004544811]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313349]|Heterotopia, periventricular, X-linked dominant [RCV000704079]|not provided [RCV004791631] |
ChrX:154362742 [GRCh38]
ChrX:153591110 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.3555C>T (p.Cys1185=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002532371]|not provided [RCV000591825] |
ChrX:154360240 [GRCh38]
ChrX:153588608 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.7453G>A (p.Val2485Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001215878]|Inborn genetic diseases [RCV000624170]|not provided [RCV001562219] |
ChrX:154349748 [GRCh38]
ChrX:153578116 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.3930G>A (p.Gln1310=) |
single nucleotide variant |
not provided [RCV000592465] |
ChrX:154359781 [GRCh38]
ChrX:153588149 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6199G>A (p.Glu2067Lys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001071492]|Marfan syndrome [RCV000582325] |
ChrX:154353028 [GRCh38]
ChrX:153581396 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4474+3G>T |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV003224342]|Heterotopia, periventricular, X-linked dominant [RCV001867937]|not provided [RCV000597006]|not specified [RCV004701683] |
ChrX:154358981 [GRCh38]
ChrX:153587349 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6146G>A (p.Arg2049His) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001361875]|Scoliosis [RCV000584654]|not provided [RCV003313111] |
ChrX:154353081 [GRCh38]
ChrX:153581449 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4113C>T (p.Asn1371=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003766921]|not specified [RCV000517801] |
ChrX:154359513 [GRCh38]
ChrX:153587881 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.1450C>T (p.Arg484Trp) |
single nucleotide variant |
FLNA-related disorder [RCV004735640]|Familial thoracic aortic aneurysm and aortic dissection [RCV002317335]|Heterotopia, periventricular, X-linked dominant [RCV001085228]|not provided [RCV000598415] |
ChrX:154365466 [GRCh38]
ChrX:153593834 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.7103T>C (p.Val2368Ala) |
single nucleotide variant |
not provided [RCV000596271] |
ChrX:154350962 [GRCh38]
ChrX:153579330 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2409C>T (p.Asp803=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003160105]|Heterotopia, periventricular, X-linked dominant [RCV001444411]|not provided [RCV000882577] |
ChrX:154362574 [GRCh38]
ChrX:153590942 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4528A>C (p.Asn1510His) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000583418]|not provided [RCV002221561] |
ChrX:154358515 [GRCh38]
ChrX:153586883 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3095G>A (p.Arg1032His) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001853959]|not provided [RCV000584929]|not specified [RCV004586809] |
ChrX:154361420 [GRCh38]
ChrX:153589788 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.7092C>A (p.Ile2364=) |
single nucleotide variant |
FLNA-related disorder [RCV004543341]|Familial thoracic aortic aneurysm and aortic dissection [RCV002368008]|Heterotopia, periventricular, X-linked dominant [RCV001518246]|not provided [RCV000593881]|not specified [RCV001821721] |
ChrX:154350973 [GRCh38]
ChrX:153579341 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.4506C>T (p.Asn1502=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002341550]|Heterotopia, periventricular, X-linked dominant [RCV000866569]|not provided [RCV001697349] |
ChrX:154358537 [GRCh38]
ChrX:153586905 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.3529G>T (p.Glu1177Ter) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000640729] |
ChrX:154360266 [GRCh38]
ChrX:153588634 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.7655C>T (p.Pro2552Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000640731] |
ChrX:154349463 [GRCh38]
ChrX:153577831 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.6973G>A (p.Val2325Met) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002232795] |
ChrX:154351631 [GRCh38]
ChrX:153579999 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.4444C>T (p.Pro1482Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000640744] |
ChrX:154359014 [GRCh38]
ChrX:153587382 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.3814del (p.Arg1272fs) |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV002232798] |
ChrX:154359897 [GRCh38]
ChrX:153588265 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.4368C>T (p.Pro1456=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002331171]|Heterotopia, periventricular, X-linked dominant [RCV000640786]|not provided [RCV001527852] |
ChrX:154359090 [GRCh38]
ChrX:153587458 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5715G>A (p.Pro1905=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313356]|Heterotopia, periventricular, X-linked dominant [RCV001080153]|not provided [RCV000728023] |
ChrX:154353699 [GRCh38]
ChrX:153582067 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.1527_1538del (p.Ala510_Gly513del) |
deletion |
not provided [RCV000722349] |
ChrX:154365378..154365389 [GRCh38]
ChrX:153593746..153593757 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4599-1G>A |
single nucleotide variant |
not provided [RCV000414514] |
ChrX:154358356 [GRCh38]
ChrX:153586724 [GRCh37]
ChrX:Xq28 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_001110556.2(FLNA):c.3896A>G (p.Asn1299Ser) |
single nucleotide variant |
not provided [RCV000733777] |
ChrX:154359815 [GRCh38]
ChrX:153588183 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3282C>T (p.Gly1094=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004027103]|Heterotopia, periventricular, X-linked dominant [RCV002067177]|not provided [RCV003437421]|not specified [RCV000735038] |
ChrX:154360513 [GRCh38]
ChrX:153588881 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4314C>G (p.Phe1438Leu) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV000767979] |
ChrX:154359144 [GRCh38]
ChrX:153587512 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1287G>A (p.Thr429=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002386296]|Heterotopia, periventricular, X-linked dominant [RCV002060986]|not provided [RCV000729937] |
ChrX:154366166 [GRCh38]
ChrX:153594534 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.6268G>C (p.Val2090Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002231782]|Heterotopia, periventricular, X-linked dominant [RCV004787885]|Wolff-Parkinson-White pattern [RCV000656208]|not provided [RCV003332193] |
ChrX:154352883 [GRCh38]
ChrX:153581251 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.4857C>T (p.Leu1619=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004027076]|Heterotopia, periventricular, X-linked dominant [RCV001396578]|not provided [RCV000733935] |
ChrX:154357522 [GRCh38]
ChrX:153585890 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.6863G>A (p.Arg2288His) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV000764859]|Familial thoracic aortic aneurysm and aortic dissection [RCV002367847]|Heterotopia, periventricular, X-linked dominant [RCV000528311]|Heterotopia, periventricular, X-linked dominant [RCV003389055]|not specified [RCV001821546] |
ChrX:154351928 [GRCh38]
ChrX:153580296 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.7463C>A (p.Thr2488Asn) |
single nucleotide variant |
Colitis [RCV000735380]|Familial thoracic aortic aneurysm and aortic dissection [RCV002384138]|Heterotopia, periventricular, X-linked dominant [RCV002232268]|not provided [RCV001591231] |
ChrX:154349738 [GRCh38]
ChrX:153578106 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.2485A>G (p.Asn829Asp) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000535719] |
ChrX:154362498 [GRCh38]
ChrX:153590866 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.1933G>A (p.Val645Ile) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002406668]|Heterotopia, periventricular, X-linked dominant [RCV001855685]|not provided [RCV000732451] |
ChrX:154364615 [GRCh38]
ChrX:153592983 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.4525G>A (p.Val1509Ile) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV001580385]|Familial thoracic aortic aneurysm and aortic dissection [RCV003382628]|Heterotopia, periventricular, X-linked dominant [RCV003771765]|See cases [RCV004584440] |
ChrX:154358518 [GRCh38]
ChrX:153586886 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5911A>T (p.Ile1971Phe) |
single nucleotide variant |
FLNA-related disorder [RCV004735600]|Familial thoracic aortic aneurysm and aortic dissection [RCV002358505]|Heterotopia, periventricular, X-linked dominant [RCV000532103]|not provided [RCV001571401] |
ChrX:154353407 [GRCh38]
ChrX:153581775 [GRCh37]
ChrX:Xq28 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.4106C>T (p.Thr1369Ile) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002314983]|Heterotopia, periventricular, X-linked dominant [RCV001079000]|not provided [RCV000729237] |
ChrX:154359520 [GRCh38]
ChrX:153587888 [GRCh37]
ChrX:Xq28 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.16T>C (p.Ser6Pro) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001857974]|not provided [RCV000524050] |
ChrX:154371230 [GRCh38]
ChrX:153599598 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.1365C>A (p.Thr455=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002232252] |
ChrX:154366088 [GRCh38]
ChrX:153594456 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.6217C>T (p.Arg2073Cys) |
single nucleotide variant |
FLNA-related disorder [RCV004541695]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314985]|Heterotopia, periventricular, X-linked dominant [RCV000537698]|not provided [RCV000826327] |
ChrX:154353010 [GRCh38]
ChrX:153581378 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.2952C>G (p.Asp984Glu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003768214]|not provided [RCV000731636] |
ChrX:154361563 [GRCh38]
ChrX:153589931 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.632C>G (p.Pro211Arg) |
single nucleotide variant |
not provided [RCV000412807] |
ChrX:154367729 [GRCh38]
ChrX:153596097 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.5714C>T (p.Pro1905Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001064052]|not provided [RCV000730841] |
ChrX:154353700 [GRCh38]
ChrX:153582068 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3416T>G (p.Leu1139Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004822100]|Heterotopia, periventricular, X-linked dominant [RCV002232256] |
ChrX:154360379 [GRCh38]
ChrX:153588747 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2147G>A (p.Gly716Asp) |
single nucleotide variant |
not provided [RCV000723246] |
ChrX:154364155 [GRCh38]
ChrX:153592523 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4840_4852del (p.Gly1614fs) |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV002232264] |
ChrX:154357527..154357539 [GRCh38]
ChrX:153585895..153585907 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.5616G>C (p.Gly1872=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002316545]|Heterotopia, periventricular, X-linked dominant [RCV000541680]|not provided [RCV001697025] |
ChrX:154353985 [GRCh38]
ChrX:153582353 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.6446G>A (p.Arg2149Gln) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002525246]|not specified [RCV000518860] |
ChrX:154352609 [GRCh38]
ChrX:153580977 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.4083C>A (p.His1361Gln) |
single nucleotide variant |
not specified [RCV000413894] |
ChrX:154359543 [GRCh38]
ChrX:153587911 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6338A>G (p.Asn2113Ser) |
single nucleotide variant |
not specified [RCV000414095] |
ChrX:154352813 [GRCh38]
ChrX:153581181 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001456.3(FLNA):c.2828delG |
deletion |
not provided [RCV000414405] |
ChrX:154361786 [GRCh38]
ChrX:153590154 [GRCh37]
ChrX:Xq28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 |
copy number gain |
See cases [RCV000449330] |
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) |
copy number loss |
See cases [RCV000449461] |
ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 |
copy number loss |
See cases [RCV000449365] |
ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 |
copy number gain |
See cases [RCV000449437] |
ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 |
copy number gain |
See cases [RCV000446471] |
ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 |
copy number gain |
See cases [RCV000446270] |
ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 |
copy number loss |
See cases [RCV000446712] |
ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 |
copy number loss |
See cases [RCV000446197] |
ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 |
copy number loss |
See cases [RCV000446667] |
ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq28(chrX:152228560-154930047)x2 |
copy number gain |
See cases [RCV000447331] |
ChrX:152228560..154930047 [GRCh37]
ChrX:Xq28 |
pathogenic |
| GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 |
copy number loss |
See cases [RCV000447490] |
ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28 |
pathogenic |
| GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 |
copy number gain |
See cases [RCV000446151] |
ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 |
copy number gain |
See cases [RCV000446932] |
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 |
copy number gain |
See cases [RCV000446310] |
ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 |
copy number gain |
See cases [RCV000447253] |
ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq28(chrX:150253008-155233731)x1 |
copy number loss |
See cases [RCV000446761] |
ChrX:150253008..155233731 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.-36C>T |
single nucleotide variant |
not specified [RCV000417451] |
ChrX:154371281 [GRCh38]
ChrX:153599649 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.50C>T (p.Pro17Leu) |
single nucleotide variant |
not provided [RCV000423665] |
ChrX:154371196 [GRCh38]
ChrX:153599564 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6770-16A>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002525431]|not specified [RCV000423714] |
ChrX:154352037 [GRCh38]
ChrX:153580405 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.1568-19G>A |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002402156]|Heterotopia, periventricular, X-linked dominant [RCV002062689]|not specified [RCV000423728] |
ChrX:154365278 [GRCh38]
ChrX:153593646 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.1367T>C (p.Val456Ala) |
single nucleotide variant |
not provided [RCV000417668] |
ChrX:154366086 [GRCh38]
ChrX:153594454 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7553-10T>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000864364]|not provided [RCV001703653] |
ChrX:154349575 [GRCh38]
ChrX:153577943 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.7637A>G (p.Gln2546Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004619286]|Heterotopia, periventricular, X-linked dominant [RCV001851053]|not specified [RCV000427375] |
ChrX:154349481 [GRCh38]
ChrX:153577849 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.4629T>C (p.His1543=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002065017]|not provided [RCV001703712] |
ChrX:154358325 [GRCh38]
ChrX:153586693 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.425G>T (p.Trp142Leu) |
single nucleotide variant |
not provided [RCV000427481] |
ChrX:154368039 [GRCh38]
ChrX:153596407 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1804A>G (p.Ile602Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001861587]|not provided [RCV000434400] |
ChrX:154364845 [GRCh38]
ChrX:153593213 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4908C>T (p.Ala1636=) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV002481298]|FLNA-related disorder [RCV004544735]|Familial thoracic aortic aneurysm and aortic dissection [RCV002338985]|Heterotopia, periventricular, X-linked dominant [RCV000549333]|not provided [RCV003114538]|not specified [RCV000434499] |
ChrX:154357471 [GRCh38]
ChrX:153585839 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.7210G>A (p.Val2404Ile) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004619381]|Heterotopia, periventricular, X-linked dominant [RCV002233156] |
ChrX:154350154 [GRCh38]
ChrX:153578522 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.4499T>C (p.Val1500Ala) |
single nucleotide variant |
FLNA-related disorder [RCV004535718]|Heterotopia, periventricular, X-linked dominant [RCV000690723] |
ChrX:154358544 [GRCh38]
ChrX:153586912 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.5075_5092dup (p.Asp1692_Asp1697dup) |
duplication |
Familial thoracic aortic aneurysm and aortic dissection [RCV002343475]|Heterotopia, periventricular, X-linked dominant [RCV000693625]|not provided [RCV001811445] |
ChrX:154354949..154354950 [GRCh38]
ChrX:153583317..153583318 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 |
copy number loss |
See cases [RCV000446026] |
ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_001110556.2(FLNA):c.374-12T>C |
single nucleotide variant |
not specified [RCV000417889] |
ChrX:154368102 [GRCh38]
ChrX:153596470 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7756+19C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002060017]|not specified [RCV000424231] |
ChrX:154349343 [GRCh38]
ChrX:153577711 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.3207+5T>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003766366]|not specified [RCV000427723] |
ChrX:154361303 [GRCh38]
ChrX:153589671 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.4851C>T (p.Thr1617=) |
single nucleotide variant |
not specified [RCV000438058] |
ChrX:154357528 [GRCh38]
ChrX:153585896 [GRCh37]
ChrX:Xq28 |
likely benign |
| GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 |
copy number loss |
See cases [RCV000445720] |
ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_001110556.2(FLNA):c.4918G>A (p.Gly1640Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002522679]|not provided [RCV000418133] |
ChrX:154357461 [GRCh38]
ChrX:153585829 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.5686+13T>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002062345]|not specified [RCV000418195] |
ChrX:154353902 [GRCh38]
ChrX:153582270 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2454C>T (p.Ala818=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002451043]|Heterotopia, periventricular, X-linked dominant [RCV000873726]|not provided [RCV001698316]|not specified [RCV003987538] |
ChrX:154362529 [GRCh38]
ChrX:153590897 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2280+18G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002059870]|not specified [RCV000427864] |
ChrX:154364004 [GRCh38]
ChrX:153592372 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.39A>G (p.Ala13=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002356604]|not specified [RCV000431626] |
ChrX:154371207 [GRCh38]
ChrX:153599575 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7756+20G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002059739]|not provided [RCV004703973]|not specified [RCV000431718] |
ChrX:154349342 [GRCh38]
ChrX:153577710 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.5475C>T (p.Asp1825=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313068]|Heterotopia, periventricular, X-linked dominant [RCV001393101]|not specified [RCV000431730] |
ChrX:154354233 [GRCh38]
ChrX:153582601 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7695G>A (p.Leu2565=) |
single nucleotide variant |
not specified [RCV000442057] |
ChrX:154349423 [GRCh38]
ChrX:153577791 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3148G>A (p.Val1050Met) |
single nucleotide variant |
not provided [RCV000418276] |
ChrX:154361367 [GRCh38]
ChrX:153589735 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1567+18C>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003766228]|not specified [RCV000418526] |
ChrX:154365331 [GRCh38]
ChrX:153593699 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3153C>T (p.Pro1051=) |
single nucleotide variant |
FLNA-related disorder [RCV004530535]|Heterotopia, periventricular, X-linked dominant [RCV002524767]|not specified [RCV000421359] |
ChrX:154361362 [GRCh38]
ChrX:153589730 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2608C>T (p.His870Tyr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003766455]|not provided [RCV000424847] |
ChrX:154362290 [GRCh38]
ChrX:153590658 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.4722C>T (p.Asp1574=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004022379]|Heterotopia, periventricular, X-linked dominant [RCV001401822]|not provided [RCV000865195] |
ChrX:154358232 [GRCh38]
ChrX:153586600 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6651G>A (p.Lys2217=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002374695]|Heterotopia, periventricular, X-linked dominant [RCV001522764]|not specified [RCV000435388] |
ChrX:154352299 [GRCh38]
ChrX:153580667 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.1371C>T (p.His457=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003168642]|Heterotopia, periventricular, X-linked dominant [RCV002062392]|not specified [RCV000442494] |
ChrX:154366082 [GRCh38]
ChrX:153594450 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7757-16A>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002521759]|not specified [RCV000418949] |
ChrX:154349052 [GRCh38]
ChrX:153577420 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3459C>T (p.His1153=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002339075]|Heterotopia, periventricular, X-linked dominant [RCV003766377]|not specified [RCV000421504] |
ChrX:154360336 [GRCh38]
ChrX:153588704 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2137-19G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002522654]|not specified [RCV000424946] |
ChrX:154364184 [GRCh38]
ChrX:153592552 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3597G>A (p.Ser1199=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004022291]|Heterotopia, periventricular, X-linked dominant [RCV001081038]|not provided [RCV000711670]|not specified [RCV000432014] |
ChrX:154360198 [GRCh38]
ChrX:153588566 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.957C>T (p.Tyr319=) |
single nucleotide variant |
FLNA-related disorder [RCV004539871]|Familial thoracic aortic aneurysm and aortic dissection [RCV002379358]|Heterotopia, periventricular, X-linked dominant [RCV000865039]|not provided [RCV001721346] |
ChrX:154366762 [GRCh38]
ChrX:153595130 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5193G>A (p.Val1731=) |
single nucleotide variant |
FLNA-related disorder [RCV004533044]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313090]|Heterotopia, periventricular, X-linked dominant [RCV000468267]|not provided [RCV001698158] |
ChrX:154354849 [GRCh38]
ChrX:153583217 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.3036G>A (p.Ser1012=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002436274]|Heterotopia, periventricular, X-linked dominant [RCV000690530]|not provided [RCV003114549]|not specified [RCV000421809] |
ChrX:154361479 [GRCh38]
ChrX:153589847 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.2472C>T (p.Phe824=) |
single nucleotide variant |
FLNA-related disorder [RCV004735505]|Familial thoracic aortic aneurysm and aortic dissection [RCV002446650]|Heterotopia, periventricular, X-linked dominant [RCV001079050]|not provided [RCV000727012] |
ChrX:154362511 [GRCh38]
ChrX:153590879 [GRCh37]
ChrX:Xq28 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.2220G>A (p.Pro740=) |
single nucleotide variant |
FLNA-related disorder [RCV004533113]|Familial thoracic aortic aneurysm and aortic dissection [RCV002429439]|Heterotopia, periventricular, X-linked dominant [RCV000864759]|not specified [RCV000442886] |
ChrX:154364082 [GRCh38]
ChrX:153592450 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.890T>C (p.Met297Thr) |
single nucleotide variant |
not provided [RCV000522773] |
ChrX:154366829 [GRCh38]
ChrX:153595197 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1066-19C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002058898]|not specified [RCV000419295] |
ChrX:154366489 [GRCh38]
ChrX:153594857 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.968C>T (p.Pro323Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002374687]|Heterotopia, periventricular, X-linked dominant [RCV001214184]|not provided [RCV000419413] |
ChrX:154366751 [GRCh38]
ChrX:153595119 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.6854T>C (p.Phe2285Ser) |
single nucleotide variant |
not provided [RCV000421998] |
ChrX:154351937 [GRCh38]
ChrX:153580305 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV000760220]|Familial thoracic aortic aneurysm and aortic dissection [RCV002393056]|Heterotopia, periventricular, X-linked dominant [RCV000559847]|not provided [RCV000762685]|not specified [RCV000435841] |
ChrX:154349490 [GRCh38]
ChrX:153577858 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.-21C>T |
single nucleotide variant |
not specified [RCV000435884] |
ChrX:154371266 [GRCh38]
ChrX:153599634 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7848G>C (p.Val2616=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002411363]|Heterotopia, periventricular, X-linked dominant [RCV002521847]|not specified [RCV000443297] |
ChrX:154348945 [GRCh38]
ChrX:153577313 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1828+3A>G |
single nucleotide variant |
Connective tissue disorder [RCV000659657]|FLNA-related disorder [RCV004539898]|Familial thoracic aortic aneurysm and aortic dissection [RCV002411394]|Heterotopia, periventricular, X-linked dominant [RCV000463789]|not provided [RCV001528866]|not specified [RCV000425597] |
ChrX:154364818 [GRCh38]
ChrX:153593186 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.7353C>T (p.Val2451=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002379334]|Heterotopia, periventricular, X-linked dominant [RCV002062668]|not provided [RCV001810926]|not specified [RCV000425722] |
ChrX:154349848 [GRCh38]
ChrX:153578216 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2022+12G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002524766]|not specified [RCV000439712] |
ChrX:154364514 [GRCh38]
ChrX:153592882 [GRCh37]
ChrX:Xq28 |
likely benign |
| GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 |
copy number loss |
See cases [RCV000445891] |
ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28 |
pathogenic |
| NM_001110556.2(FLNA):c.720+12C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002062447]|not specified [RCV000419808] |
ChrX:154367629 [GRCh38]
ChrX:153595997 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.1038C>T (p.Tyr346=) |
single nucleotide variant |
FLNA-related disorder [RCV004533038]|Familial thoracic aortic aneurysm and aortic dissection [RCV002392995]|Heterotopia, periventricular, X-linked dominant [RCV000867032]|not provided [RCV001703860] |
ChrX:154366589 [GRCh38]
ChrX:153594957 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3246G>A (p.Ala1082=) |
single nucleotide variant |
FLNA-related disorder [RCV004539890]|Familial thoracic aortic aneurysm and aortic dissection [RCV002446736]|Heterotopia, periventricular, X-linked dominant [RCV002063498]|not provided [RCV000458968] |
ChrX:154360549 [GRCh38]
ChrX:153588917 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4475-4C>T |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313145]|Heterotopia, periventricular, X-linked dominant [RCV000557838]|not provided [RCV000992000] |
ChrX:154358572 [GRCh38]
ChrX:153586940 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.24G>T (p.Ala8=) |
single nucleotide variant |
not specified [RCV000432867] |
ChrX:154371222 [GRCh38]
ChrX:153599590 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7776G>C (p.Val2592=) |
single nucleotide variant |
FLNA-related disorder [RCV004533054]|Familial thoracic aortic aneurysm and aortic dissection [RCV002411354]|Heterotopia, periventricular, X-linked dominant [RCV001455448]|not provided [RCV001704297] |
ChrX:154349017 [GRCh38]
ChrX:153577385 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6661G>A (p.Val2221Met) |
single nucleotide variant |
not provided [RCV000443655] |
ChrX:154352289 [GRCh38]
ChrX:153580657 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7156+2T>C |
single nucleotide variant |
not provided [RCV000430263] |
ChrX:154350907 [GRCh38]
ChrX:153579275 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.65A>G (p.Asp22Gly) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002374716]|Heterotopia, periventricular, X-linked dominant [RCV000539831]|not provided [RCV000513921] |
ChrX:154371181 [GRCh38]
ChrX:153599549 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.4474+15G>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002059977]|not specified [RCV000426278] |
ChrX:154358969 [GRCh38]
ChrX:153587337 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2389G>A (p.Ala797Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002450976]|Heterotopia, periventricular, X-linked dominant [RCV000547200]|not provided [RCV000426387] |
ChrX:154362676 [GRCh38]
ChrX:153591044 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.5973G>A (p.Ser1991=) |
single nucleotide variant |
FLNA-related disorder [RCV004539860]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313099]|Heterotopia, periventricular, X-linked dominant [RCV000981716]|not provided [RCV001704337] |
ChrX:154353345 [GRCh38]
ChrX:153581713 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2103C>T (p.His701=) |
single nucleotide variant |
FLNA-related disorder [RCV004530562]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313045]|Heterotopia, periventricular, X-linked dominant [RCV000463065]|not provided [RCV002292548]|not specified [RCV000426626] |
ChrX:154364292 [GRCh38]
ChrX:153592660 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.374-18C>G |
single nucleotide variant |
not specified [RCV000437161] |
ChrX:154368108 [GRCh38]
ChrX:153596476 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4188C>T (p.Ser1396=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002328957]|Heterotopia, periventricular, X-linked dominant [RCV001498907]|not specified [RCV000440588] |
ChrX:154359361 [GRCh38]
ChrX:153587729 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.9C>T (p.Ser3=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003168656]|Heterotopia, periventricular, X-linked dominant [RCV003766277]|not specified [RCV000440650] |
ChrX:154371237 [GRCh38]
ChrX:153599605 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1794G>A (p.Val598=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313119]|Heterotopia, periventricular, X-linked dominant [RCV002063478]|not provided [RCV001704500] |
ChrX:154364855 [GRCh38]
ChrX:153593223 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3087T>C (p.Ser1029=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003766360]|not specified [RCV000444327] |
ChrX:154361428 [GRCh38]
ChrX:153589796 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.753C>T (p.Asn251=) |
single nucleotide variant |
FLNA-related disorder [RCV004532994]|Familial thoracic aortic aneurysm and aortic dissection [RCV002392976]|Heterotopia, periventricular, X-linked dominant [RCV000640783]|not provided [RCV001720100] |
ChrX:154367512 [GRCh38]
ChrX:153595880 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.2742C>T (p.Leu914=) |
single nucleotide variant |
not specified [RCV000430455] |
ChrX:154362063 [GRCh38]
ChrX:153590431 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1761G>A (p.Glu587=) |
single nucleotide variant |
FLNA-related disorder [RCV004539900]|Familial thoracic aortic aneurysm and aortic dissection [RCV002411400]|Heterotopia, periventricular, X-linked dominant [RCV001419682]|not provided [RCV000539622]|not specified [RCV000430580] |
ChrX:154364888 [GRCh38]
ChrX:153593256 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.987+6G>A |
single nucleotide variant |
not specified [RCV000440900] |
ChrX:154366726 [GRCh38]
ChrX:153595094 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.622+10C>T |
single nucleotide variant |
FLNA-related disorder [RCV004735513]|Heterotopia, periventricular, X-linked dominant [RCV000558610]|not provided [RCV001810924]|not specified [RCV000440982] |
ChrX:154367832 [GRCh38]
ChrX:153596200 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.90C>T (p.Ala30=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002318461]|Heterotopia, periventricular, X-linked dominant [RCV001447541]|not specified [RCV000444588] |
ChrX:154371156 [GRCh38]
ChrX:153599524 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7389G>A (p.Ser2463=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002379331]|Heterotopia, periventricular, X-linked dominant [RCV002230253]|not specified [RCV000444645] |
ChrX:154349812 [GRCh38]
ChrX:153578180 [GRCh37]
ChrX:Xq28 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.861C>T (p.Tyr287=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002374647]|Heterotopia, periventricular, X-linked dominant [RCV000462837]|not provided [RCV001703591]|not specified [RCV000420416] |
ChrX:154367404 [GRCh38]
ChrX:153595772 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.1229-8C>T |
single nucleotide variant |
FLNA-related disorder [RCV004539847]|Heterotopia, periventricular, X-linked dominant [RCV000862796]|not provided [RCV001572909]|not specified [RCV000423503] |
ChrX:154366232 [GRCh38]
ChrX:153594600 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.6908-16C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002058899]|not specified [RCV000427122] |
ChrX:154351712 [GRCh38]
ChrX:153580080 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.-20C>A |
single nucleotide variant |
not provided [RCV001703649]|not specified [RCV003330668] |
ChrX:154371265 [GRCh38]
ChrX:153599633 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.-21C>G |
single nucleotide variant |
not specified [RCV000437576] |
ChrX:154371266 [GRCh38]
ChrX:153599634 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.4143-20C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002060027]|not specified [RCV000437596] |
ChrX:154359426 [GRCh38]
ChrX:153587794 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6870C>T (p.Asp2290=) |
single nucleotide variant |
FLNA-related disorder [RCV004530559]|Familial thoracic aortic aneurysm and aortic dissection [RCV002365487]|Heterotopia, periventricular, X-linked dominant [RCV000872108]|not provided [RCV001720008] |
ChrX:154351921 [GRCh38]
ChrX:153580289 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.3573G>A (p.Ala1191=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002450970]|Heterotopia, periventricular, X-linked dominant [RCV000863278]|not provided [RCV003437167]|not specified [RCV000444732] |
ChrX:154360222 [GRCh38]
ChrX:153588590 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6705A>C (p.Glu2235Asp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004022276]|Heterotopia, periventricular, X-linked dominant [RCV002524727]|not provided [RCV000441394] |
ChrX:154352245 [GRCh38]
ChrX:153580613 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 |
copy number loss |
See cases [RCV000448393] |
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1 |
copy number loss |
See cases [RCV000448724] |
ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 |
copy number gain |
See cases [RCV000448034] |
ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 |
copy number loss |
See cases [RCV000448652] |
ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq26.3-28(chrX:134114063-155233731)x1 |
copy number loss |
See cases [RCV000448865] |
ChrX:134114063..155233731 [GRCh37]
ChrX:Xq26.3-28 |
pathogenic |
| NM_001110556.2(FLNA):c.6321C>T (p.Cys2107=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001434023] |
ChrX:154352830 [GRCh38]
ChrX:153581198 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5988_5989del (p.Cys1997fs) |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV002230318] |
ChrX:154353329..154353330 [GRCh38]
ChrX:153581697..153581698 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.7932_7934del (p.Val2646del) |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV002230316] |
ChrX:154348859..154348861 [GRCh38]
ChrX:153577227..153577229 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1582G>C (p.Val528Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002230320] |
ChrX:154365245 [GRCh38]
ChrX:153593613 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6408C>A (p.Gly2136=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001461233] |
ChrX:154352647 [GRCh38]
ChrX:153581015 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1223C>T (p.Thr408Met) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002231116]|not provided [RCV000479665] |
ChrX:154366313 [GRCh38]
ChrX:153594681 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.1366G>T (p.Val456Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001865488]|not provided [RCV000483625] |
ChrX:154366087 [GRCh38]
ChrX:153594455 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.2945-15dup |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV002063735]|not specified [RCV000483658] |
ChrX:154361584..154361585 [GRCh38]
ChrX:153589952..153589953 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2492A>G (p.Asn831Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002318517]|Heterotopia, periventricular, X-linked dominant [RCV000459346]|not provided [RCV002307501] |
ChrX:154362491 [GRCh38]
ChrX:153590859 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.5160C>T (p.Tyr1720=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000463160]|not provided [RCV001580099] |
ChrX:154354882 [GRCh38]
ChrX:153583250 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.6503-2A>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001379313] |
ChrX:154352449 [GRCh38]
ChrX:153580817 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.4155G>T (p.Thr1385=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000459589] |
ChrX:154359394 [GRCh38]
ChrX:153587762 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5710G>A (p.Gly1904Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002230759]|not provided [RCV000786134]|not specified [RCV000502032] |
ChrX:154353704 [GRCh38]
ChrX:153582072 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.4917C>T (p.Thr1639=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003168882]|Heterotopia, periventricular, X-linked dominant [RCV001442518]|not provided [RCV000463579] |
ChrX:154357462 [GRCh38]
ChrX:153585830 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3286G>A (p.Gly1096Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002230322] |
ChrX:154360509 [GRCh38]
ChrX:153588877 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1356C>T (p.Gly452=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004022926]|Heterotopia, periventricular, X-linked dominant [RCV001493881]|not provided [RCV000471054] |
ChrX:154366097 [GRCh38]
ChrX:153594465 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2137-2A>G |
single nucleotide variant |
Thoracic aortic aneurysm or dissection [RCV004782397]|not provided [RCV000482242] |
ChrX:154364167 [GRCh38]
ChrX:153592535 [GRCh37]
ChrX:Xq28 |
likely pathogenic|uncertain significance |
| NM_001110556.2(FLNA):c.3523G>A (p.Ala1175Thr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002230319]|not provided [RCV000513123]|not specified [RCV003488602] |
ChrX:154360272 [GRCh38]
ChrX:153588640 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.902G>T (p.Arg301Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002230761]|not provided [RCV000728206] |
ChrX:154366817 [GRCh38]
ChrX:153595185 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.7822C>T (p.His2608Tyr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002230673]|not provided [RCV001707699] |
ChrX:154348971 [GRCh38]
ChrX:153577339 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.7802G>A (p.Cys2601Tyr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002230324]|not provided [RCV000507907] |
ChrX:154348991 [GRCh38]
ChrX:153577359 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2566-2A>G |
single nucleotide variant |
not provided [RCV000483054] |
ChrX:154362334 [GRCh38]
ChrX:153590702 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.1734_1735delinsA (p.Val579fs) |
indel |
not provided [RCV000483381] |
ChrX:154364914..154364915 [GRCh38]
ChrX:153593282..153593283 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.617C>T (p.Ala206Val) |
single nucleotide variant |
not provided [RCV000480667] |
ChrX:154367847 [GRCh38]
ChrX:153596215 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6540C>T (p.Ser2180=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003153653] |
ChrX:154352410 [GRCh38]
ChrX:153580778 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7660C>A (p.Pro2554Thr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002230321] |
ChrX:154349458 [GRCh38]
ChrX:153577826 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NC_000023.10:g.(?_153576900)_(153599729_?)del |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV000471680] |
ChrX:153576900..153599729 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.3504C>T (p.Pro1168=) |
single nucleotide variant |
FLNA-related disorder [RCV004539970]|Familial thoracic aortic aneurysm and aortic dissection [RCV002341070]|Heterotopia, periventricular, X-linked dominant [RCV000475491]|not provided [RCV001653836]|not specified [RCV003401496] |
ChrX:154360291 [GRCh38]
ChrX:153588659 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.3909C>T (p.Asn1303=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001459476] |
ChrX:154359802 [GRCh38]
ChrX:153588170 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1581C>T (p.Arg527=) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV002496798]|Familial thoracic aortic aneurysm and aortic dissection [RCV002402316]|Heterotopia, periventricular, X-linked dominant [RCV001510875]|not provided [RCV000471999]|not specified [RCV004526680] |
ChrX:154365246 [GRCh38]
ChrX:153593614 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.1587G>A (p.Lys529=) |
single nucleotide variant |
FLNA-related disorder [RCV004533216]|Familial thoracic aortic aneurysm and aortic dissection [RCV004022925]|Heterotopia, periventricular, X-linked dominant [RCV002063673]|not provided [RCV000472217]|not specified [RCV000500165] |
ChrX:154365240 [GRCh38]
ChrX:153593608 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.5591A>G (p.Asn1864Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002348277]|Heterotopia, periventricular, X-linked dominant [RCV000476019]|See cases [RCV004584385]|not provided [RCV004791466] |
ChrX:154354010 [GRCh38]
ChrX:153582378 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.6724C>T (p.Arg2242Ter) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001387919]|not provided [RCV000728731] |
ChrX:154352226 [GRCh38]
ChrX:153580594 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.1767C>T (p.Gly589=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004822065]|Heterotopia, periventricular, X-linked dominant [RCV001514151] |
ChrX:154364882 [GRCh38]
ChrX:153593250 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.1824G>A (p.Thr608=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001510414] |
ChrX:154364825 [GRCh38]
ChrX:153593193 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.2310C>T (p.Asn770=) |
single nucleotide variant |
FLNA-related disorder [RCV004539971]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313196]|Heterotopia, periventricular, X-linked dominant [RCV000476258] |
ChrX:154362755 [GRCh38]
ChrX:153591123 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6817A>G (p.Ile2273Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003766698]|not provided [RCV000486105] |
ChrX:154351974 [GRCh38]
ChrX:153580342 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.4075C>T (p.Arg1359Cys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002323688]|Heterotopia, periventricular, X-linked dominant [RCV002230323]|not provided [RCV001508979] |
ChrX:154359551 [GRCh38]
ChrX:153587919 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.3255C>T (p.Pro1085=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002323769]|Heterotopia, periventricular, X-linked dominant [RCV000457764]|not provided [RCV001637035] |
ChrX:154360540 [GRCh38]
ChrX:153588908 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6984G>A (p.Pro2328=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002367583]|Heterotopia, periventricular, X-linked dominant [RCV000465393] |
ChrX:154351620 [GRCh38]
ChrX:153579988 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2479A>G (p.Ile827Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002526960]|not provided [RCV000482285] |
ChrX:154362504 [GRCh38]
ChrX:153590872 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.4651A>C (p.Ser1551Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003766950]|not provided [RCV000523411] |
ChrX:154358303 [GRCh38]
ChrX:153586671 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3939C>T (p.Gly1313=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002374829]|Heterotopia, periventricular, X-linked dominant [RCV000461925]|not specified [RCV000615938] |
ChrX:154359772 [GRCh38]
ChrX:153588140 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2319A>T (p.Lys773Asn) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002230760]|not provided [RCV001559760] |
ChrX:154362746 [GRCh38]
ChrX:153591114 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1964G>A (p.Arg655His) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313254]|Heterotopia, periventricular, X-linked dominant [RCV002230953]|not provided [RCV000728595]|not specified [RCV001821400] |
ChrX:154364584 [GRCh38]
ChrX:153592952 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.7156+11_7156+15del |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV002056784]|not specified [RCV000486961] |
ChrX:154350894..154350898 [GRCh38]
ChrX:153579262..153579266 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2366_2367insT (p.Thr790fs) |
insertion |
not provided [RCV000479429] |
ChrX:154362698..154362699 [GRCh38]
ChrX:153591066..153591067 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.4142+5_4142+14dup |
duplication |
Familial thoracic aortic aneurysm and aortic dissection [RCV002329152]|Heterotopia, periventricular, X-linked dominant [RCV002063776]|not specified [RCV000478402] |
ChrX:154359469..154359470 [GRCh38]
ChrX:153587837..153587838 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.3979+8_3979+11del |
deletion |
FLNA-related disorder [RCV004535504]|Heterotopia, periventricular, X-linked dominant [RCV001514291]|not specified [RCV000487337] |
ChrX:154359721..154359724 [GRCh38]
ChrX:153588089..153588092 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.1900C>G (p.Arg634Gly) |
single nucleotide variant |
FLNA-related disorder [RCV004539929]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313162]|Heterotopia, periventricular, X-linked dominant [RCV000458388]|not provided [RCV001563437] |
ChrX:154364648 [GRCh38]
ChrX:153593016 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.7568G>A (p.Ser2523Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002393185]|Heterotopia, periventricular, X-linked dominant [RCV002063674]|not provided [RCV000473615] |
ChrX:154349550 [GRCh38]
ChrX:153577918 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.3668C>T (p.Pro1223Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002230317] |
ChrX:154360127 [GRCh38]
ChrX:153588495 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.1997C>T (p.Ala666Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002418357]|Hepatoblastoma [RCV001843519]|Heterotopia, periventricular, X-linked dominant [RCV000462684]|not provided [RCV000996069] |
ChrX:154364551 [GRCh38]
ChrX:153592919 [GRCh37]
ChrX:Xq28 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.148dup (p.Thr50fs) |
duplication |
not provided [RCV000498656] |
ChrX:154371097..154371098 [GRCh38]
ChrX:153599465..153599466 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.6846G>A (p.Glu2282=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002367687]|Heterotopia, periventricular, X-linked dominant [RCV001491264]|not specified [RCV000500948] |
ChrX:154351945 [GRCh38]
ChrX:153580313 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.6107C>G (p.Pro2036Arg) |
single nucleotide variant |
not specified [RCV000501229] |
ChrX:154353120 [GRCh38]
ChrX:153581488 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2945-4A>G |
single nucleotide variant |
not specified [RCV000503424] |
ChrX:154361574 [GRCh38]
ChrX:153589942 [GRCh37]
ChrX:Xq28 |
likely benign |
| GRCh37/hg19 Xq28(chrX:151201777-154741703)x2 |
copy number gain |
See cases [RCV000510478] |
ChrX:151201777..154741703 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.25G>T (p.Gly9Cys) |
single nucleotide variant |
FLNA-related disorder [RCV004541557]|Familial thoracic aortic aneurysm and aortic dissection [RCV002431459]|Heterotopia, periventricular, X-linked dominant [RCV002056848]|not specified [RCV000501455] |
ChrX:154371221 [GRCh38]
ChrX:153599589 [GRCh37]
ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.5190C>T (p.His1730=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000873359]|not provided [RCV001591138]|not specified [RCV000503986] |
ChrX:154354852 [GRCh38]
ChrX:153583220 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.2571G>A (p.Thr857=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002431458]|Heterotopia, periventricular, X-linked dominant [RCV001410769]|not provided [RCV001528051]|not specified [RCV000501796] |
ChrX:154362327 [GRCh38]
ChrX:153590695 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6951C>T (p.Pro2317=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002316436]|Heterotopia, periventricular, X-linked dominant [RCV000640773]|not specified [RCV000504014] |
ChrX:154351653 [GRCh38]
ChrX:153580021 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4232C>T (p.Ser1411Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002314867]|Heterotopia, periventricular, X-linked dominant [RCV000985096]|Heterotopia, periventricular, X-linked dominant [RCV001085359]|not provided [RCV000838677]|not specified [RCV000504106] |
ChrX:154359317 [GRCh38]
ChrX:153587685 [GRCh37]
ChrX:Xq28 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.6307A>G (p.Arg2103Gly) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002230985]|not provided [RCV001692150]|not specified [RCV000504288] |
ChrX:154352844 [GRCh38]
ChrX:153581212 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.6227-2A>G |
single nucleotide variant |
not provided [RCV000523338] |
ChrX:154352926 [GRCh38]
ChrX:153581294 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.1571G>A (p.Gly524Glu) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV000509147]|Heterotopia, periventricular, X-linked dominant [RCV001865666]|not provided [RCV002254928] |
ChrX:154365256 [GRCh38]
ChrX:153593624 [GRCh37]
ChrX:Xq28 |
uncertain significance|not provided |
| NM_001110556.2(FLNA):c.2356G>A (p.Ala786Thr) |
single nucleotide variant |
not provided [RCV000497315] |
ChrX:154362709 [GRCh38]
ChrX:153591077 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2254G>A (p.Val752Ile) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV000764864]|Familial thoracic aortic aneurysm and aortic dissection [RCV002446969]|Heterotopia, periventricular, X-linked dominant [RCV001057064]|not provided [RCV000497359] |
ChrX:154364048 [GRCh38]
ChrX:153592416 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5861-9C>G |
single nucleotide variant |
not provided [RCV000497425] |
ChrX:154353466 [GRCh38]
ChrX:153581834 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3522C>T (p.Thr1174=) |
single nucleotide variant |
Connective tissue disorder [RCV000680541]|FLNA-related disorder [RCV004541556]|Familial thoracic aortic aneurysm and aortic dissection [RCV004023374]|Heterotopia, periventricular, X-linked dominant [RCV000640795]|not provided [RCV001544977]|not specified [RCV000499732] |
ChrX:154360273 [GRCh38]
ChrX:153588641 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.2862T>C (p.Asp954=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003766818]|not provided [RCV001571576]|not specified [RCV000499692] |
ChrX:154361752 [GRCh38]
ChrX:153590120 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3775C>T (p.Gln1259Ter) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003766799]|Periventricular nodular heterotopia [RCV004767308]|not provided [RCV000497491] |
ChrX:154360020 [GRCh38]
ChrX:153588388 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.6394G>A (p.Val2132Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002367689]|Heterotopia, periventricular, X-linked dominant [RCV000686436]|not provided [RCV001549890]|not specified [RCV000502222] |
ChrX:154352661 [GRCh38]
ChrX:153581029 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.461T>C (p.Met154Thr) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV001196653]|Heterotopia, periventricular, X-linked dominant [RCV002231175]|not provided [RCV001764485]|not specified [RCV000499997] |
ChrX:154368003 [GRCh38]
ChrX:153596371 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.7796C>T (p.Thr2599Ile) |
single nucleotide variant |
not provided [RCV000497840] |
ChrX:154348997 [GRCh38]
ChrX:153577365 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6725G>A (p.Arg2242Gln) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV000764860]|Familial thoracic aortic aneurysm and aortic dissection [RCV002367688]|Heterotopia, periventricular, X-linked dominant [RCV002230984]|not specified [RCV000500138] |
ChrX:154352225 [GRCh38]
ChrX:153580593 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.7122C>T (p.Ala2374=) |
single nucleotide variant |
not specified [RCV000502566] |
ChrX:154350943 [GRCh38]
ChrX:153579311 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6455C>G (p.Ser2152Ter) |
single nucleotide variant |
not provided [RCV000497976] |
ChrX:154352600 [GRCh38]
ChrX:153580968 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.6875C>T (p.Ser2292Phe) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000640738]|not specified [RCV000502889] |
ChrX:154351916 [GRCh38]
ChrX:153580284 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3523G>C (p.Ala1175Pro) |
single nucleotide variant |
not provided [RCV000498417] |
ChrX:154360272 [GRCh38]
ChrX:153588640 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| GRCh37/hg19 Xq28(chrX:153097608-153681801)x2 |
copy number gain |
See cases [RCV000510362] |
ChrX:153097608..153681801 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.2032C>T (p.Arg678Cys) |
single nucleotide variant |
FLNA-related disorder [RCV004527607]|Heterotopia, periventricular, X-linked dominant [RCV001306738]|not provided [RCV000498535] |
ChrX:154364363 [GRCh38]
ChrX:153592731 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.1580G>A (p.Arg527His) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004822079]|Heterotopia, periventricular, X-linked dominant [RCV001857098]|not provided [RCV001509132]|not specified [RCV000503127] |
ChrX:154365247 [GRCh38]
ChrX:153593615 [GRCh37]
ChrX:Xq28 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| Single allele |
variation |
not specified [RCV000508510] |
ChrX:154371181..154371182 [GRCh38]
ChrX:153599550..153599551 [GRCh37]
ChrX:Xq28 |
likely benign |
| GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 |
copy number gain |
See cases [RCV000511787] |
ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28 |
pathogenic |
| NM_001110556.2(FLNA):c.1864G>A (p.Glu622Lys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001865554]|not provided [RCV000494059] |
ChrX:154364684 [GRCh38]
ChrX:153593052 [GRCh37]
ChrX:Xq28 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.4475-7G>C |
single nucleotide variant |
not specified [RCV000506050] |
ChrX:154358575 [GRCh38]
ChrX:153586943 [GRCh37]
ChrX:Xq28 |
likely benign |
| GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 |
copy number loss |
See cases [RCV000511413] |
ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28 |
pathogenic|uncertain significance |
| GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 |
copy number loss |
See cases [RCV000511572] |
ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28 |
pathogenic |
| GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 |
copy number loss |
See cases [RCV000511936] |
ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28 |
pathogenic |
| GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 |
copy number loss |
See cases [RCV000511482] |
ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28 |
pathogenic |
| NM_001110556.2(FLNA):c.5661C>T (p.Thr1887=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004023431]|Heterotopia, periventricular, X-linked dominant [RCV000864833]|not specified [RCV000507395] |
ChrX:154353940 [GRCh38]
ChrX:153582308 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) |
copy number gain |
See cases [RCV000512020] |
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 |
copy number loss |
See cases [RCV000511490] |
ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28 |
pathogenic |
| GRCh37/hg19 Xq28(chrX:153418991-153644258)x3 |
copy number gain |
See cases [RCV000511851] |
ChrX:153418991..153644258 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.168C>G (p.His56Gln) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002233276]|not provided [RCV001548176] |
ChrX:154371078 [GRCh38]
ChrX:153599446 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 |
copy number gain |
See cases [RCV000510826] |
ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28 |
pathogenic |
| GRCh37/hg19 Xq27.3-28(chrX:146232592-155233731)x1 |
copy number loss |
See cases [RCV000511228] |
ChrX:146232592..155233731 [GRCh37]
ChrX:Xq27.3-28 |
pathogenic |
| GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 |
copy number gain |
See cases [RCV000511307] |
ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28 |
pathogenic |
| NM_001110556.2(FLNA):c.196A>T (p.Asn66Tyr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002233343] |
ChrX:154371050 [GRCh38]
ChrX:153599418 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3647C>T (p.Thr1216Met) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002232829] |
ChrX:154360148 [GRCh38]
ChrX:153588516 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.4696G>A (p.Val1566Met) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001420603]|Heterotopia, periventricular, X-linked dominant [RCV002233140]|not provided [RCV001653977] |
ChrX:154358258 [GRCh38]
ChrX:153586626 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.6269T>C (p.Val2090Ala) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002233217] |
ChrX:154352882 [GRCh38]
ChrX:153581250 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4018G>A (p.Val1340Met) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002233529] |
ChrX:154359608 [GRCh38]
ChrX:153587976 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1319G>C (p.Ser440Thr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002233546] |
ChrX:154366134 [GRCh38]
ChrX:153594502 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2831C>T (p.Pro944Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002440463]|Heterotopia, periventricular, X-linked dominant [RCV002233562] |
ChrX:154361783 [GRCh38]
ChrX:153590151 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.18_19del (p.Arg7fs) |
microsatellite |
Congenital short bowel syndrome, X-linked [RCV000043474]|Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked [RCV000577880] |
ChrX:154371227..154371228 [GRCh38]
ChrX:153599595..153599596 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.82A>G (p.Met28Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000577884] |
ChrX:154371164 [GRCh38]
ChrX:153599532 [GRCh37]
ChrX:Xq28 |
pathogenic |
| GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 |
copy number loss |
See cases [RCV000510820] |
ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28 |
pathogenic |
| GRCh37/hg19 Xq28(chrX:151963528-155233731)x1 |
copy number loss |
See cases [RCV000510866] |
ChrX:151963528..155233731 [GRCh37]
ChrX:Xq28 |
pathogenic |
| GRCh37/hg19 Xq28(chrX:151311551-155233731)x1 |
copy number loss |
See cases [RCV000510920] |
ChrX:151311551..155233731 [GRCh37]
ChrX:Xq28 |
pathogenic |
| GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3 |
copy number gain |
See cases [RCV000511034] |
ChrX:133944147..155233731 [GRCh37]
ChrX:Xq26.3-28 |
pathogenic |
| NM_001110556.2(FLNA):c.1479G>C (p.Lys493Asn) |
single nucleotide variant |
FG syndrome 2 [RCV001255827]|Heterotopia, periventricular, X-linked dominant [RCV002232253]|not provided [RCV002245005] |
ChrX:154365437 [GRCh38]
ChrX:153593805 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.6503-8C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001392643] |
ChrX:154352455 [GRCh38]
ChrX:153580823 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2982A>G (p.Lys994=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004619361]|Heterotopia, periventricular, X-linked dominant [RCV002529991] |
ChrX:154361533 [GRCh38]
ChrX:153589901 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4599-17A>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002063034]|not specified [RCV000603804] |
ChrX:154358372 [GRCh38]
ChrX:153586740 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4721_4732del (p.Asp1574_Glu1577del) |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV002232263] |
ChrX:154358222..154358233 [GRCh38]
ChrX:153586590..153586601 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5658C>T (p.Phe1886=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002314984]|Heterotopia, periventricular, X-linked dominant [RCV000554561]|not provided [RCV001697026] |
ChrX:154353943 [GRCh38]
ChrX:153582311 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.6763G>C (p.Val2255Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313357] |
ChrX:154352187 [GRCh38]
ChrX:153580555 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6317A>G (p.Tyr2106Cys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004609421]|not provided [RCV000522458] |
ChrX:154352834 [GRCh38]
ChrX:153581202 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7627T>C (p.Cys2543Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313362] |
ChrX:154349491 [GRCh38]
ChrX:153577859 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4755+5G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000528990] |
ChrX:154358194 [GRCh38]
ChrX:153586562 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.543G>C (p.Pro181=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002350271]|Heterotopia, periventricular, X-linked dominant [RCV003153708] |
ChrX:154367921 [GRCh38]
ChrX:153596289 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5787G>A (p.Pro1929=) |
single nucleotide variant |
FLNA-related disorder [RCV004537970]|Familial thoracic aortic aneurysm and aortic dissection [RCV002316546]|Heterotopia, periventricular, X-linked dominant [RCV001455452]|not provided [RCV000530739]|not specified [RCV001821545] |
ChrX:154353627 [GRCh38]
ChrX:153581995 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.423C>T (p.Ile141=) |
single nucleotide variant |
FLNA-related disorder [RCV004541694]|Heterotopia, periventricular, X-linked dominant [RCV000531647] |
ChrX:154368041 [GRCh38]
ChrX:153596409 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.4424C>T (p.Thr1475Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002232260] |
ChrX:154359034 [GRCh38]
ChrX:153587402 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.3224C>T (p.Pro1075Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313368]|Heterotopia, periventricular, X-linked dominant [RCV001239163]|not provided [RCV001553199]|not specified [RCV003403430] |
ChrX:154360571 [GRCh38]
ChrX:153588939 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.5553C>T (p.Ile1851=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002531649]|not specified [RCV000605425] |
ChrX:154354155 [GRCh38]
ChrX:153582523 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1542G>C (p.Glu514Asp) |
single nucleotide variant |
FLNA-related disorder [RCV004735599]|Familial thoracic aortic aneurysm and aortic dissection [RCV004619325]|Heterotopia, periventricular, X-linked dominant [RCV002231777]|not provided [RCV000711667] |
ChrX:154365374 [GRCh38]
ChrX:153593742 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| GRCh37/hg19 Xq28(chrX:153566798-153748208)x4 |
copy number gain |
Chromosome Xq28 duplication syndrome [RCV003313724] |
ChrX:153566798..153748208 [GRCh37]
ChrX:Xq28 |
not provided |
| GRCh37/hg19 Xq28(chrX:153575976-153586768) |
copy number loss |
Migraine with aura [RCV000626554] |
ChrX:153575976..153586768 [GRCh37]
ChrX:Xq28 |
pathogenic |
| GRCh37/hg19 Xq28(chrX:153588672-153609996) |
copy number gain |
Migraine with aura [RCV000626555] |
ChrX:153588672..153609996 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.7205T>C (p.Ile2402Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002377082]|Heterotopia, periventricular, X-linked dominant [RCV000553794]|not provided [RCV003480675] |
ChrX:154350159 [GRCh38]
ChrX:153578527 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.1365C>T (p.Thr455=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002384343]|Heterotopia, periventricular, X-linked dominant [RCV001503111]|not provided [RCV003437310]|not specified [RCV000606985] |
ChrX:154366088 [GRCh38]
ChrX:153594456 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3368C>G (p.Ser1123Cys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313375]|Heterotopia, periventricular, X-linked dominant [RCV002531826]|not specified [RCV001002453] |
ChrX:154360427 [GRCh38]
ChrX:153588795 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5506G>A (p.Glu1836Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313354]|Heterotopia, periventricular, X-linked dominant [RCV002531825] |
ChrX:154354202 [GRCh38]
ChrX:153582570 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.853C>T (p.Arg285Cys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000577903]|Heterotopia, periventricular, X-linked dominant [RCV002232676]|not provided [RCV001091831] |
ChrX:154367412 [GRCh38]
ChrX:153595780 [GRCh37]
ChrX:Xq28 |
pathogenic|uncertain significance |
| NM_001110556.2(FLNA):c.1065G>A (p.Lys355=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000577926]|Heterotopia, periventricular, X-linked dominant [RCV002529037] |
ChrX:154366562 [GRCh38]
ChrX:153594930 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.7585G>A (p.Glu2529Lys) |
single nucleotide variant |
FLNA-related disorder [RCV004527686]|Familial thoracic aortic aneurysm and aortic dissection [RCV004025271]|Heterotopia, periventricular, X-linked dominant [RCV002531894] |
ChrX:154349533 [GRCh38]
ChrX:153577901 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.6998G>A (p.Arg2333His) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002315922]|Heterotopia, periventricular, X-linked dominant [RCV001042585]|not provided [RCV001697960] |
ChrX:154351606 [GRCh38]
ChrX:153579974 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.7068C>T (p.Ser2356=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313364]|Heterotopia, periventricular, X-linked dominant [RCV003767807] |
ChrX:154350997 [GRCh38]
ChrX:153579365 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7919G>T (p.Ser2640Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002233038] |
ChrX:154348874 [GRCh38]
ChrX:153577242 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3455C>T (p.Ala1152Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002233044] |
ChrX:154360340 [GRCh38]
ChrX:153588708 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2584A>G (p.Ile862Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000640753]|Heterotopia, periventricular, X-linked dominant [RCV003483699] |
ChrX:154362314 [GRCh38]
ChrX:153590682 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.7043A>G (p.Asn2348Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002233489] |
ChrX:154351022 [GRCh38]
ChrX:153579390 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6728C>G (p.Ala2243Gly) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV004788070]|Familial thoracic aortic aneurysm and aortic dissection [RCV004025609]|Heterotopia, periventricular, X-linked dominant [RCV000640755]|not provided [RCV001756067]|not specified [RCV003387899] |
ChrX:154352222 [GRCh38]
ChrX:153580590 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.2505G>A (p.Thr835=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002233048] |
ChrX:154362478 [GRCh38]
ChrX:153590846 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3864C>T (p.Thr1288=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003162884]|Heterotopia, periventricular, X-linked dominant [RCV002233049] |
ChrX:154359847 [GRCh38]
ChrX:153588215 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7519A>G (p.Ile2507Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313367]|Heterotopia, periventricular, X-linked dominant [RCV001238338]|not provided [RCV001545906] |
ChrX:154349682 [GRCh38]
ChrX:153578050 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.1554C>T (p.Thr518=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003302933]|not specified [RCV000607467] |
ChrX:154365362 [GRCh38]
ChrX:153593730 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4824C>T (p.Tyr1608=) |
single nucleotide variant |
FLNA-related disorder [RCV004544772]|Familial thoracic aortic aneurysm and aortic dissection [RCV002333996]|Heterotopia, periventricular, X-linked dominant [RCV000866989]|not provided [RCV003437319]|not specified [RCV000602201] |
ChrX:154357555 [GRCh38]
ChrX:153585923 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1248C>T (p.Val416=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003162749]|Heterotopia, periventricular, X-linked dominant [RCV002064345]|not provided [RCV003437325]|not specified [RCV000607827] |
ChrX:154366205 [GRCh38]
ChrX:153594573 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2657-19G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002064041]|not provided [RCV001718957] |
ChrX:154362167 [GRCh38]
ChrX:153590535 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NC_000023.10:g.(?_153295726)_(153786885_?)dup |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV000645139] |
ChrX:153295726..153786885 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NC_000023.10:g.(?_153128098)_(153599633_?)dup |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV000645140] |
ChrX:153128098..153599633 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.7333+1G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000656111] |
ChrX:154350030 [GRCh38]
ChrX:153578398 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.4369G>A (p.Gly1457Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001303279]|not provided [RCV000524095] |
ChrX:154359089 [GRCh38]
ChrX:153587457 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7650G>A (p.Pro2550=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002395622]|Heterotopia, periventricular, X-linked dominant [RCV001372725]|not provided [RCV001719087] |
ChrX:154349468 [GRCh38]
ChrX:153577836 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.5559A>C (p.Gly1853=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002315901]|Heterotopia, periventricular, X-linked dominant [RCV001086980]|not provided [RCV000711672]|not specified [RCV000612244] |
ChrX:154354042 [GRCh38]
ChrX:153582410 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.933T>G (p.Ala311=) |
single nucleotide variant |
FLNA-related disorder [RCV004541696]|Heterotopia, periventricular, X-linked dominant [RCV001470109]|not specified [RCV004689786] |
ChrX:154366786 [GRCh38]
ChrX:153595154 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1120G>A (p.Val374Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004822099]|Heterotopia, periventricular, X-linked dominant [RCV000537961]|not provided [RCV001591230] |
ChrX:154366416 [GRCh38]
ChrX:153594784 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.6415C>T (p.Arg2139Trp) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002231783]|not provided [RCV004777719]|not specified [RCV003330766] |
ChrX:154352640 [GRCh38]
ChrX:153581008 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.5686+1G>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002233040] |
ChrX:154353914 [GRCh38]
ChrX:153582282 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.76G>A (p.Ala26Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313363]|Heterotopia, periventricular, X-linked dominant [RCV001034843] |
ChrX:154371170 [GRCh38]
ChrX:153599538 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6226+9T>C |
single nucleotide variant |
not specified [RCV000605429] |
ChrX:154352992 [GRCh38]
ChrX:153581360 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5557+12C>T |
single nucleotide variant |
not specified [RCV000612433] |
ChrX:154354139 [GRCh38]
ChrX:153582507 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.868+19G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002064331]|not specified [RCV000615671] |
ChrX:154367378 [GRCh38]
ChrX:153595746 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1698C>G (p.Phe566Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313374]|Heterotopia, periventricular, X-linked dominant [RCV003767808] |
ChrX:154364951 [GRCh38]
ChrX:153593319 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.5520C>T (p.His1840=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002343158]|Heterotopia, periventricular, X-linked dominant [RCV001406348]|not provided [RCV001719090] |
ChrX:154354188 [GRCh38]
ChrX:153582556 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.720+13G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002062891]|not specified [RCV000612613] |
ChrX:154367628 [GRCh38]
ChrX:153595996 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4970-17C>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002065264]|not provided [RCV001718954] |
ChrX:154355089 [GRCh38]
ChrX:153583457 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7167T>G (p.Ala2389=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004023995]|Heterotopia, periventricular, X-linked dominant [RCV000541176]|not provided [RCV001597165] |
ChrX:154350197 [GRCh38]
ChrX:153578565 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.5127C>A (p.Asp1709Glu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313373]|Heterotopia, periventricular, X-linked dominant [RCV002232770] |
ChrX:154354915 [GRCh38]
ChrX:153583283 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.3106C>T (p.Arg1036Cys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004025254]|Heterotopia, periventricular, X-linked dominant [RCV001868125]|Heterotopia, periventricular, X-linked dominant [RCV002246005]|not provided [RCV002261135] |
ChrX:154361409 [GRCh38]
ChrX:153589777 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.7753G>A (p.Ala2585Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313359] |
ChrX:154349365 [GRCh38]
ChrX:153577733 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1430-10C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001471848]|not provided [RCV000861073] |
ChrX:154365496 [GRCh38]
ChrX:153593864 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3208-9T>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003767653]|not specified [RCV000607316] |
ChrX:154360596 [GRCh38]
ChrX:153588964 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3561C>T (p.Ser1187=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001305237]|not provided [RCV003437320]|not specified [RCV000613002] |
ChrX:154360234 [GRCh38]
ChrX:153588602 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.2661C>T (p.Val887=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002431774]|Heterotopia, periventricular, X-linked dominant [RCV002531506]|not provided [RCV001697559] |
ChrX:154362144 [GRCh38]
ChrX:153590512 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.7929C>T (p.Arg2643=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003162750]|Heterotopia, periventricular, X-linked dominant [RCV002064346]|not specified [RCV000616153] |
ChrX:154348864 [GRCh38]
ChrX:153577232 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.3225G>A (p.Pro1075=) |
single nucleotide variant |
FLNA-related disorder [RCV004544812]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313371]|Heterotopia, periventricular, X-linked dominant [RCV002232601] |
ChrX:154360570 [GRCh38]
ChrX:153588938 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5271G>A (p.Leu1757=) |
single nucleotide variant |
FLNA-related disorder [RCV004533283]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313360]|Heterotopia, periventricular, X-linked dominant [RCV000869956]|not specified [RCV001001774] |
ChrX:154354658 [GRCh38]
ChrX:153583026 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4618C>T (p.Leu1540=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313355]|Heterotopia, periventricular, X-linked dominant [RCV003767806] |
ChrX:154358336 [GRCh38]
ChrX:153586704 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1692-10G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000877214]|not provided [RCV001712618] |
ChrX:154364967 [GRCh38]
ChrX:153593335 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.690G>A (p.Gln230=) |
single nucleotide variant |
FLNA-related disorder [RCV004544781]|Heterotopia, periventricular, X-linked dominant [RCV002066610]|not provided [RCV003437323]|not specified [RCV000616263] |
ChrX:154367671 [GRCh38]
ChrX:153596039 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1430-16del |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV002529448]|not specified [RCV000616358] |
ChrX:154365502 [GRCh38]
ChrX:153593870 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.261G>A (p.Lys87=) |
single nucleotide variant |
FLNA-related disorder [RCV004530781]|not specified [RCV000602230] |
ChrX:154370985 [GRCh38]
ChrX:153599353 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2310C>A (p.Asn770Lys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000862615]|not specified [RCV000610425] |
ChrX:154362755 [GRCh38]
ChrX:153591123 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.720+9G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001517835]|not specified [RCV000613223] |
ChrX:154367632 [GRCh38]
ChrX:153596000 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.5694G>A (p.Leu1898=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003302949]|Heterotopia, periventricular, X-linked dominant [RCV001437277]|not provided [RCV003736850]|not specified [RCV000616453] |
ChrX:154353720 [GRCh38]
ChrX:153582088 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4803C>T (p.Asp1601=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004024994]|Heterotopia, periventricular, X-linked dominant [RCV003767716]|not specified [RCV000616496] |
ChrX:154357576 [GRCh38]
ChrX:153585944 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.2112G>A (p.Lys704=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004024953]|not specified [RCV000616526] |
ChrX:154364283 [GRCh38]
ChrX:153592651 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.999C>T (p.Thr333=) |
single nucleotide variant |
FLNA-related disorder [RCV004544759]|Heterotopia, periventricular, X-linked dominant [RCV000865022]|not specified [RCV000616571] |
ChrX:154366628 [GRCh38]
ChrX:153594996 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5481C>T (p.Thr1827=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002311951]|Heterotopia, periventricular, X-linked dominant [RCV002065128]|not provided [RCV000585358] |
ChrX:154354227 [GRCh38]
ChrX:153582595 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1613A>G (p.Tyr538Cys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002233487]|not provided [RCV004760667] |
ChrX:154365214 [GRCh38]
ChrX:153593582 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3861G>T (p.Gln1287His) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002233042] |
ChrX:154359850 [GRCh38]
ChrX:153588218 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1406C>T (p.Pro469Leu) |
single nucleotide variant |
FLNA-related disorder [RCV004735694]|Familial thoracic aortic aneurysm and aortic dissection [RCV003303028]|Heterotopia, periventricular, X-linked dominant [RCV000640745]|not provided [RCV000723066] |
ChrX:154366047 [GRCh38]
ChrX:153594415 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5967G>A (p.Pro1989=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003162883]|Heterotopia, periventricular, X-linked dominant [RCV001430058] |
ChrX:154353351 [GRCh38]
ChrX:153581719 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.897G>A (p.Lys299=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002529993] |
ChrX:154366822 [GRCh38]
ChrX:153595190 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1902C>T (p.Arg634=) |
single nucleotide variant |
FLNA-related disorder [RCV004544764]|Heterotopia, periventricular, X-linked dominant [RCV000640785]|not specified [RCV000613598] |
ChrX:154364646 [GRCh38]
ChrX:153593014 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7326T>C (p.Gly2442=) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV002498911]|Heterotopia, periventricular, X-linked dominant [RCV002232581]|not specified [RCV000616746] |
ChrX:154350038 [GRCh38]
ChrX:153578406 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7156+20_7156+37del |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV001860265]|not specified [RCV000616827] |
ChrX:154350872..154350889 [GRCh38]
ChrX:153579240..153579257 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4945+3G>A |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002341326]|Heterotopia, periventricular, X-linked dominant [RCV000525468]|Intellectual disability [RCV001252499] |
ChrX:154357431 [GRCh38]
ChrX:153585799 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.3985C>T (p.His1329Tyr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003302829]|Heterotopia, periventricular, X-linked dominant [RCV000526244]|not provided [RCV001786399] |
ChrX:154359641 [GRCh38]
ChrX:153588009 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.396G>T (p.Gly132=) |
single nucleotide variant |
not specified [RCV000610877] |
ChrX:154368068 [GRCh38]
ChrX:153596436 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3103C>T (p.Pro1035Ser) |
single nucleotide variant |
Thrombocytopenia [RCV003313890] |
ChrX:154361412 [GRCh38]
ChrX:153589780 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3877G>A (p.Val1293Ile) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002315932]|Heterotopia, periventricular, X-linked dominant [RCV000869972]|not provided [RCV001698036]|not specified [RCV004767437] |
ChrX:154359834 [GRCh38]
ChrX:153588202 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.2027A>G (p.Lys676Arg) |
single nucleotide variant |
FLNA-related disorder [RCV004544747]|Familial thoracic aortic aneurysm and aortic dissection [RCV002420614]|Heterotopia, periventricular, X-linked dominant [RCV000640772]|not specified [RCV000608508] |
ChrX:154364368 [GRCh38]
ChrX:153592736 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.2826+20_2826+21del |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV002531505]|not specified [RCV000613866] |
ChrX:154361958..154361959 [GRCh38]
ChrX:153590326..153590327 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5063T>G (p.Val1688Gly) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000626749]|Heterotopia, periventricular, X-linked dominant [RCV002533153]|not provided [RCV004767451] |
ChrX:154354979 [GRCh38]
ChrX:153583347 [GRCh37]
ChrX:Xq28 |
likely pathogenic|uncertain significance |
| NM_001110556.2(FLNA):c.7275T>C (p.His2425=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002377083]|Heterotopia, periventricular, X-linked dominant [RCV002232267] |
ChrX:154350089 [GRCh38]
ChrX:153578457 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5217+13G>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002064231]|not provided [RCV002227189]|not specified [RCV000608601] |
ChrX:154354812 [GRCh38]
ChrX:153583180 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.675G>A (p.Ala225=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002360468]|Heterotopia, periventricular, X-linked dominant [RCV001455891]|not specified [RCV000611322] |
ChrX:154367686 [GRCh38]
ChrX:153596054 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.-116-7T>C |
single nucleotide variant |
not provided [RCV001697961] |
ChrX:154371368 [GRCh38]
ChrX:153599736 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7074C>T (p.Asn2358=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002360478]|Heterotopia, periventricular, X-linked dominant [RCV001469214]|not provided [RCV001698493] |
ChrX:154350991 [GRCh38]
ChrX:153579359 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2676C>T (p.Pro892=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002063271]|not specified [RCV000614351] |
ChrX:154362129 [GRCh38]
ChrX:153590497 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7902C>T (p.Asp2634=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002413718]|Heterotopia, periventricular, X-linked dominant [RCV002063256]|not provided [RCV001697545] |
ChrX:154348891 [GRCh38]
ChrX:153577259 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2439A>G (p.Gly813=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002456325]|not specified [RCV000614392] |
ChrX:154362544 [GRCh38]
ChrX:153590912 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7645G>T (p.Ala2549Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001855225]|not provided [RCV001508976] |
ChrX:154349473 [GRCh38]
ChrX:153577841 [GRCh37]
ChrX:Xq28 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.7713C>T (p.Tyr2571=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002404691]|Heterotopia, periventricular, X-linked dominant [RCV001520823]|not provided [RCV000871410] |
ChrX:154349405 [GRCh38]
ChrX:153577773 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.2792A>T (p.Asn931Ile) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV002506336]|Heterotopia, periventricular, X-linked dominant [RCV000534793]|not provided [RCV004592575] |
ChrX:154362013 [GRCh38]
ChrX:153590381 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7596A>G (p.Ser2532=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002395383]|Heterotopia, periventricular, X-linked dominant [RCV000534962]|not provided [RCV001672836] |
ChrX:154349522 [GRCh38]
ChrX:153577890 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.4896C>T (p.Tyr1632=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002341553]|Heterotopia, periventricular, X-linked dominant [RCV002062978]|not specified [RCV000604080] |
ChrX:154357483 [GRCh38]
ChrX:153585851 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3417C>T (p.Leu1139=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003310818] |
ChrX:154360378 [GRCh38]
ChrX:153588746 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6411G>A (p.Glu2137=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003310820] |
ChrX:154352644 [GRCh38]
ChrX:153581012 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2656+14C>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002528532]|not specified [RCV000609320] |
ChrX:154362228 [GRCh38]
ChrX:153590596 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.373+10G>A |
single nucleotide variant |
FLNA-related disorder [RCV004544766]|Heterotopia, periventricular, X-linked dominant [RCV000640808]|not specified [RCV000609357] |
ChrX:154370863 [GRCh38]
ChrX:153599231 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5292C>T (p.Ala1764=) |
single nucleotide variant |
FLNA-related disorder [RCV004544775]|Familial thoracic aortic aneurysm and aortic dissection [RCV004024977]|Heterotopia, periventricular, X-linked dominant [RCV000864793]|not provided [RCV001698095] |
ChrX:154354637 [GRCh38]
ChrX:153583005 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5679A>G (p.Ala1893=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004822128]|Heterotopia, periventricular, X-linked dominant [RCV002528533]|not specified [RCV000614780] |
ChrX:154353922 [GRCh38]
ChrX:153582290 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2019C>T (p.Asp673=) |
single nucleotide variant |
FLNA-related disorder [RCV004533247]|Familial thoracic aortic aneurysm and aortic dissection [RCV002420648]|Heterotopia, periventricular, X-linked dominant [RCV002232745]|not specified [RCV000614797] |
ChrX:154364529 [GRCh38]
ChrX:153592897 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.464G>C (p.Trp155Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002232262] |
ChrX:154368000 [GRCh38]
ChrX:153596368 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4936A>G (p.Thr1646Ala) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003777279]|not provided [RCV003314102] |
ChrX:154357443 [GRCh38]
ChrX:153585811 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3678C>T (p.Pro1226=) |
single nucleotide variant |
Connective tissue disorder [RCV000659664]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313376]|Heterotopia, periventricular, X-linked dominant [RCV000640802]|not provided [RCV001703216] |
ChrX:154360117 [GRCh38]
ChrX:153588485 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.7023+4A>T |
single nucleotide variant |
Vascular dilatation [RCV000626750] |
ChrX:154351577 [GRCh38]
ChrX:153579945 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.1691+6G>A |
single nucleotide variant |
not provided [RCV002261127]|not specified [RCV000603380] |
ChrX:154365130 [GRCh38]
ChrX:153593498 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.393C>T (p.Asp131=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313365]|Heterotopia, periventricular, X-linked dominant [RCV002060671]|not provided [RCV000869825] |
ChrX:154368071 [GRCh38]
ChrX:153596439 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6288C>T (p.Asp2096=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002315938]|Heterotopia, periventricular, X-linked dominant [RCV001406792]|not specified [RCV000613456] |
ChrX:154352863 [GRCh38]
ChrX:153581231 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.4207A>G (p.Met1403Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313358]|Heterotopia, periventricular, X-linked dominant [RCV001052134]|not provided [RCV003238784] |
ChrX:154359342 [GRCh38]
ChrX:153587710 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.5151G>A (p.Pro1717=) |
single nucleotide variant |
FLNA-related disorder [RCV004533282]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313352]|Heterotopia, periventricular, X-linked dominant [RCV001089011]|not provided [RCV000756180] |
ChrX:154354891 [GRCh38]
ChrX:153583259 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3309G>A (p.Thr1103=) |
single nucleotide variant |
FLNA-related disorder [RCV004735681]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313351]|Heterotopia, periventricular, X-linked dominant [RCV001514717] |
ChrX:154360486 [GRCh38]
ChrX:153588854 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| GRCh37/hg19 Xq28(chrX:152899437-153624564)x2 |
copy number gain |
See cases [RCV000512403] |
ChrX:152899437..153624564 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.5978G>A (p.Arg1993Gln) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313369]|Heterotopia, periventricular, X-linked dominant [RCV000871158] |
ChrX:154353340 [GRCh38]
ChrX:153581708 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.415G>C (p.Gly139Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313361] |
ChrX:154368049 [GRCh38]
ChrX:153596417 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.2827-12C>T |
single nucleotide variant |
not provided [RCV001712631] |
ChrX:154361799 [GRCh38]
ChrX:153590167 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4677C>T (p.Gly1559=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001868041]|not provided [RCV001704740] |
ChrX:154358277 [GRCh38]
ChrX:153586645 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.1807G>T (p.Gly603Trp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313350]|Heterotopia, periventricular, X-linked dominant [RCV000793024] |
ChrX:154364842 [GRCh38]
ChrX:153593210 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.5426G>A (p.Arg1809Gln) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001306960]|not provided [RCV000520698] |
ChrX:154354282 [GRCh38]
ChrX:153582650 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.1314C>T (p.Gly438=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004025253]|Heterotopia, periventricular, X-linked dominant [RCV001405516]|not provided [RCV002264962]|not specified [RCV003987624] |
ChrX:154366139 [GRCh38]
ChrX:153594507 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 |
copy number loss |
See cases [RCV000512372] |
ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28 |
pathogenic |
| NM_001110556.2(FLNA):c.6177A>G (p.Glu2059=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002315923]|Heterotopia, periventricular, X-linked dominant [RCV001484143]|not provided [RCV004568326]|not specified [RCV000613376] |
ChrX:154353050 [GRCh38]
ChrX:153581418 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3611C>T (p.Pro1204Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002458054]|Heterotopia, periventricular, X-linked dominant [RCV002233039] |
ChrX:154360184 [GRCh38]
ChrX:153588552 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.7055C>T (p.Ser2352Phe) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002360567]|Heterotopia, periventricular, X-linked dominant [RCV002233041] |
ChrX:154351010 [GRCh38]
ChrX:153579378 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.7900G>C (p.Asp2634His) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002232796] |
ChrX:154348893 [GRCh38]
ChrX:153577261 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.2965C>A (p.Gln989Lys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002232797] |
ChrX:154361550 [GRCh38]
ChrX:153589918 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6376C>T (p.Pro2126Ser) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV000764862]|Heterotopia, periventricular, X-linked dominant [RCV000640747]|not provided [RCV003238797] |
ChrX:154352775 [GRCh38]
ChrX:153581143 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.6220G>A (p.Asp2074Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004619360]|Heterotopia, periventricular, X-linked dominant [RCV000640749]|not provided [RCV001558930]|not specified [RCV003994056] |
ChrX:154353007 [GRCh38]
ChrX:153581375 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.6320G>C (p.Cys2107Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002233045]|not provided [RCV001766375] |
ChrX:154352831 [GRCh38]
ChrX:153581199 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2483G>C (p.Arg828Pro) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002232799] |
ChrX:154362500 [GRCh38]
ChrX:153590868 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.333C>T (p.Leu111=) |
single nucleotide variant |
FLNA-related disorder [RCV004544851]|Heterotopia, periventricular, X-linked dominant [RCV000640762] |
ChrX:154370913 [GRCh38]
ChrX:153599281 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5952G>A (p.Thr1984=) |
single nucleotide variant |
FLNA-related disorder [RCV004533349]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315963]|Heterotopia, periventricular, X-linked dominant [RCV000640763] |
ChrX:154353366 [GRCh38]
ChrX:153581734 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5610C>T (p.Ala1870=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002233047]|not specified [RCV001001773] |
ChrX:154353991 [GRCh38]
ChrX:153582359 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.768T>C (p.Ser256=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002397223]|Heterotopia, periventricular, X-linked dominant [RCV000640788]|not provided [RCV001551667] |
ChrX:154367497 [GRCh38]
ChrX:153595865 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.3768C>T (p.Ser1256=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002343274]|Frontometaphyseal dysplasia 1 [RCV001822861]|Heterotopia, periventricular, X-linked dominant [RCV002232800] |
ChrX:154360027 [GRCh38]
ChrX:153588395 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.6564C>G (p.Ala2188=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002232801] |
ChrX:154352386 [GRCh38]
ChrX:153580754 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.93C>T (p.Thr31=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002233050] |
ChrX:154371153 [GRCh38]
ChrX:153599521 [GRCh37]
ChrX:Xq28 |
likely benign |
| NC_000023.10:g.(?_153577197)_(153579429_?)dup |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV000640809]|Heterotopia, periventricular, X-linked dominant [RCV004579557] |
ChrX:153577197..153579429 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3207+9G>T |
single nucleotide variant |
not specified [RCV000606178] |
ChrX:154361299 [GRCh38]
ChrX:153589667 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6908-14C>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002063155]|not specified [RCV000601234] |
ChrX:154351710 [GRCh38]
ChrX:153580078 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.521G>A (p.Gly174Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV000624004]|not specified [RCV002233901] |
ChrX:154367943 [GRCh38]
ChrX:153596311 [GRCh37]
ChrX:Xq28 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001110556.2(FLNA):c.6048G>A (p.Thr2016=) |
single nucleotide variant |
FLNA-related disorder [RCV004533235]|Familial thoracic aortic aneurysm and aortic dissection [RCV002358726]|Heterotopia, periventricular, X-linked dominant [RCV000873102]|not provided [RCV001698413] |
ChrX:154353179 [GRCh38]
ChrX:153581547 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| GRCh37/hg19 Xq28(chrX:153138672-153665655) |
copy number gain |
Microcytic anemia [RCV000626549] |
ChrX:153138672..153665655 [GRCh37]
ChrX:Xq28 |
pathogenic |
| GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 |
copy number gain |
See cases [RCV000512173] |
ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28 |
pathogenic |
| NM_001110556.2(FLNA):c.4182C>T (p.Gly1394=) |
single nucleotide variant |
not specified [RCV000607078] |
ChrX:154359367 [GRCh38]
ChrX:153587735 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2483G>A (p.Arg828His) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002544783]|not specified [RCV004768561] |
ChrX:154362500 [GRCh38]
ChrX:153590868 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1693C>T (p.Pro565Ser) |
single nucleotide variant |
FLNA-related disorder [RCV004535717]|Heterotopia, periventricular, X-linked dominant [RCV000690722] |
ChrX:154364956 [GRCh38]
ChrX:153593324 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.5786C>T (p.Pro1929Leu) |
single nucleotide variant |
FG syndrome 2 [RCV004788126]|FLNA-related disorder [RCV004527743]|Familial thoracic aortic aneurysm and aortic dissection [RCV004025105]|Heterotopia, periventricular, X-linked dominant [RCV002233235]|not provided [RCV001771953] |
ChrX:154353628 [GRCh38]
ChrX:153581996 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.487G>A (p.Ala163Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002334368]|Heterotopia, periventricular, X-linked dominant [RCV002233388] |
ChrX:154367977 [GRCh38]
ChrX:153596345 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4825G>A (p.Val1609Met) |
single nucleotide variant |
FLNA-related disorder [RCV004735760]|Familial thoracic aortic aneurysm and aortic dissection [RCV002316005]|Heterotopia, periventricular, X-linked dominant [RCV002232991] |
ChrX:154357554 [GRCh38]
ChrX:153585922 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NC_000023.10:g.(?_153579929)_(153649363_?)dup |
duplication |
Periventricular nodular heterotopia 1 [RCV000708327] |
ChrX:153579929..153649363 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NC_000023.10:g.(?_153577197)_(153609577_?)dup |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV000708395] |
ChrX:153577197..153609577 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1487G>A (p.Arg496Gln) |
single nucleotide variant |
Connective tissue disorder [RCV000659654]|Heterotopia, periventricular, X-linked dominant [RCV001323349]|not provided [RCV002464284] |
ChrX:154365429 [GRCh38]
ChrX:153593797 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| GRCh37/hg19 Xq28(chrX:153576750-154563104)x1 |
copy number loss |
See cases [RCV000663390] |
ChrX:153576750..154563104 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.1066-15C>A |
single nucleotide variant |
Connective tissue disorder [RCV000659651] |
ChrX:154366485 [GRCh38]
ChrX:153594853 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3207+13T>C |
single nucleotide variant |
Connective tissue disorder [RCV000659662]|Heterotopia, periventricular, X-linked dominant [RCV002536341] |
ChrX:154361295 [GRCh38]
ChrX:153589663 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1945T>C (p.Cys649Arg) |
single nucleotide variant |
not provided [RCV000658101] |
ChrX:154364603 [GRCh38]
ChrX:153592971 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4292A>G (p.His1431Arg) |
single nucleotide variant |
not provided [RCV000659188] |
ChrX:154359257 [GRCh38]
ChrX:153587625 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6607G>A (p.Val2203Ile) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002317904]|Heterotopia, periventricular, X-linked dominant [RCV002534262]|not provided [RCV000657942] |
ChrX:154352343 [GRCh38]
ChrX:153580711 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.7053C>G (p.Ala2351=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002316172] |
ChrX:154351012 [GRCh38]
ChrX:153579380 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.494A>G (p.Lys165Arg) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV000767983]|Heterotopia, periventricular, X-linked dominant [RCV003768305]|not provided [RCV001811476] |
ChrX:154367970 [GRCh38]
ChrX:153596338 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5872A>T (p.Met1958Leu) |
single nucleotide variant |
FLNA-related disorder [RCV004527733] |
ChrX:154353446 [GRCh38]
ChrX:153581814 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5643del (p.Asn1881fs) |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV002234087] |
ChrX:154353958 [GRCh38]
ChrX:153582326 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.34G>T (p.Ala12Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002232937] |
ChrX:154371212 [GRCh38]
ChrX:153599580 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7157A>G (p.Asp2386Gly) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002233220] |
ChrX:154350207 [GRCh38]
ChrX:153578575 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3979+5G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002233254]|not provided [RCV002264977] |
ChrX:154359727 [GRCh38]
ChrX:153588095 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.125A>G (p.Lys42Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002424658]|Heterotopia, periventricular, X-linked dominant [RCV002233290] |
ChrX:154371121 [GRCh38]
ChrX:153599489 [GRCh37]
ChrX:Xq28 |
likely pathogenic|uncertain significance |
| NM_001110556.2(FLNA):c.6776T>C (p.Phe2259Ser) |
single nucleotide variant |
FLNA-related disorder [RCV004535741]|Heterotopia, periventricular, X-linked dominant [RCV002233679]|Macrothrombocytopenia [RCV000851611] |
ChrX:154352015 [GRCh38]
ChrX:153580383 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 |
copy number loss |
not provided [RCV000684386] |
ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28 |
pathogenic |
| GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1 |
copy number loss |
not provided [RCV000684397] |
ChrX:138331745..155233731 [GRCh37]
ChrX:Xq27.1-28 |
pathogenic |
| GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1 |
copy number loss |
not provided [RCV000684401] |
ChrX:139504488..155233731 [GRCh37]
ChrX:Xq27.1-28 |
pathogenic |
| GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3 |
copy number gain |
not provided [RCV000684402] |
ChrX:140388077..155233731 [GRCh37]
ChrX:Xq27.2-28 |
pathogenic |
| GRCh37/hg19 Xq28(chrX:153581543-153858492)x2 |
copy number gain |
not provided [RCV000684413] |
ChrX:153581543..153858492 [GRCh37]
ChrX:Xq28 |
pathogenic |
| GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 |
copy number loss |
not provided [RCV000684373] |
ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28 |
pathogenic |
| NM_001110556.2(FLNA):c.6772G>T (p.Glu2258Ter) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000681483] |
ChrX:154352019 [GRCh38]
ChrX:153580387 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 |
copy number loss |
not provided [RCV000684357] |
ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28 |
pathogenic |
| NM_001110556.2(FLNA):c.129G>A (p.Lys43=) |
single nucleotide variant |
Connective tissue disorder [RCV000680545]|Familial thoracic aortic aneurysm and aortic dissection [RCV004619378]|Heterotopia, periventricular, X-linked dominant [RCV001480934] |
ChrX:154371117 [GRCh38]
ChrX:153599485 [GRCh37]
ChrX:Xq28 |
likely benign |
| GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 |
copy number loss |
not provided [RCV000684363] |
ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28 |
pathogenic |
| NM_001110556.2(FLNA):c.3991G>A (p.Val1331Met) |
single nucleotide variant |
Connective tissue disorder [RCV000680539]|Heterotopia, periventricular, X-linked dominant [RCV001239792] |
ChrX:154359635 [GRCh38]
ChrX:153588003 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| GRCh37/hg19 Xq28(chrX:152628304-153594168)x2 |
copy number gain |
not provided [RCV000684738] |
ChrX:152628304..153594168 [GRCh37]
ChrX:Xq28 |
pathogenic |
| GRCh37/hg19 Xq28(chrX:153322172-153624604)x2 |
copy number gain |
not provided [RCV000684742] |
ChrX:153322172..153624604 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| GRCh37/hg19 Xq28(chrX:153560741-153761134)x2 |
copy number gain |
not provided [RCV000684744] |
ChrX:153560741..153761134 [GRCh37]
ChrX:Xq28 |
pathogenic |
| GRCh37/hg19 Xq28(chrX:153560741-153858492)x2,3 |
copy number gain |
not provided [RCV000684745] |
ChrX:153560741..153858492 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.1138G>A (p.Asp380Asn) |
single nucleotide variant |
Connective tissue disorder [RCV000680544]|FLNA-related disorder [RCV004735742]|Heterotopia, periventricular, X-linked dominant [RCV000808311]|not provided [RCV001575087] |
ChrX:154366398 [GRCh38]
ChrX:153594766 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| GRCh37/hg19 Xq28(chrX:153567411-153621434)x1 |
copy number loss |
not provided [RCV000684746] |
ChrX:153567411..153621434 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.2565+1G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002233328] |
ChrX:154362417 [GRCh38]
ChrX:153590785 [GRCh37]
ChrX:Xq28 |
pathogenic|likely pathogenic |
| NM_001110556.2(FLNA):c.826C>T (p.Arg276Trp) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002233659]|not provided [RCV003159156] |
ChrX:154367439 [GRCh38]
ChrX:153595807 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.676C>T (p.Arg226Ter) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002232970]|not provided [RCV000788202] |
ChrX:154367685 [GRCh38]
ChrX:153596053 [GRCh37]
ChrX:Xq28 |
pathogenic|likely pathogenic |
| NM_001110556.2(FLNA):c.5098G>A (p.Val1700Met) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002233446]|Intellectual disability [RCV001260710] |
ChrX:154354944 [GRCh38]
ChrX:153583312 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.3602C>T (p.Ala1201Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002233714] |
ChrX:154360193 [GRCh38]
ChrX:153588561 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.873C>G (p.Ile291Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002316176] |
ChrX:154366846 [GRCh38]
ChrX:153595214 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6937G>A (p.Glu2313Lys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001325801]|not provided [RCV000711673] |
ChrX:154351667 [GRCh38]
ChrX:153580035 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.5240C>T (p.Ser1747Leu) |
single nucleotide variant |
FLNA-related disorder [RCV004527757]|Familial thoracic aortic aneurysm and aortic dissection [RCV004619401]|Heterotopia, periventricular, X-linked dominant [RCV003768117] |
ChrX:154354689 [GRCh38]
ChrX:153583057 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.2609A>G (p.His870Arg) |
single nucleotide variant |
FLNA-related disorder [RCV004735765]|Familial thoracic aortic aneurysm and aortic dissection [RCV002312335]|Heterotopia, periventricular, X-linked dominant [RCV002060899]|not provided [RCV000723221] |
ChrX:154362289 [GRCh38]
ChrX:153590657 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.4482G>A (p.Val1494=) |
single nucleotide variant |
FLNA-related disorder [RCV004535778]|Familial thoracic aortic aneurysm and aortic dissection [RCV002316051]|Heterotopia, periventricular, X-linked dominant [RCV002067016] |
ChrX:154358561 [GRCh38]
ChrX:153586929 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1335C>T (p.Ser445=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002316163]|Heterotopia, periventricular, X-linked dominant [RCV003768128] |
ChrX:154366118 [GRCh38]
ChrX:153594486 [GRCh37]
ChrX:Xq28 |
likely benign |
| NC_000023.10:g.(?_152954010)_(153599633_?)dup |
duplication |
Creatine transporter deficiency [RCV003117500]|Severe neonatal-onset encephalopathy with microcephaly [RCV000707841] |
ChrX:152954010..153599633 [GRCh37]
ChrX:Xq28 |
pathogenic|uncertain significance |
| NM_001110556.2(FLNA):c.3940G>A (p.Asp1314Asn) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002232833]|Heterotopia, periventricular, X-linked dominant [RCV004820863] |
ChrX:154359771 [GRCh38]
ChrX:153588139 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.7388C>T (p.Ser2463Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002386170]|Heterotopia, periventricular, X-linked dominant [RCV002233146] |
ChrX:154349813 [GRCh38]
ChrX:153578181 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5033C>T (p.Ala1678Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002233150] |
ChrX:154355009 [GRCh38]
ChrX:153583377 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5958T>C (p.Thr1986=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002314481]|Heterotopia, periventricular, X-linked dominant [RCV000862257]|not provided [RCV001585669] |
ChrX:154353360 [GRCh38]
ChrX:153581728 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NC_000023.10:g.(?_153577217)_(153609557_?)dup |
duplication |
X-linked Emery-Dreifuss muscular dystrophy [RCV000708386] |
ChrX:153577217..153609557 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3865G>T (p.Gly1289Ter) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002233306] |
ChrX:154359846 [GRCh38]
ChrX:153588214 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.2839G>A (p.Val947Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000696368]|not specified [RCV001002356] |
ChrX:154361775 [GRCh38]
ChrX:153590143 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.959T>G (p.Val320Gly) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002233625] |
ChrX:154366760 [GRCh38]
ChrX:153595128 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4452G>C (p.Gln1484His) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002233697] |
ChrX:154359006 [GRCh38]
ChrX:153587374 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5978G>C (p.Arg1993Pro) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002233184] |
ChrX:154353340 [GRCh38]
ChrX:153581708 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1958A>G (p.Asp653Gly) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002233604] |
ChrX:154364590 [GRCh38]
ChrX:153592958 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.410T>A (p.Ile137Asn) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002233309] |
ChrX:154368054 [GRCh38]
ChrX:153596422 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.714C>G (p.Ile238Met) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002233329] |
ChrX:154367647 [GRCh38]
ChrX:153596015 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6565G>A (p.Glu2189Lys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002232942]|not provided [RCV001528597] |
ChrX:154352385 [GRCh38]
ChrX:153580753 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1438C>T (p.Pro480Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002233110] |
ChrX:154365478 [GRCh38]
ChrX:153593846 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.77C>T (p.Ala26Val) |
single nucleotide variant |
FLNA-related disorder [RCV004535709]|Heterotopia, periventricular, X-linked dominant [RCV002233163] |
ChrX:154371169 [GRCh38]
ChrX:153599537 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.5059A>G (p.Thr1687Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004822169]|Heterotopia, periventricular, X-linked dominant [RCV000690268]|not provided [RCV003736890] |
ChrX:154354983 [GRCh38]
ChrX:153583351 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NC_000023.10:g.(?_153295726)_(153599633_?)dup |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV000708412] |
ChrX:153295726..153599633 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.1019G>A (p.Arg340His) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV002477658]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314533]|Heterotopia, periventricular, X-linked dominant [RCV003768132] |
ChrX:154366608 [GRCh38]
ChrX:153594976 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.2122C>T (p.Arg708Trp) |
single nucleotide variant |
FG syndrome 2 [RCV000714634]|FLNA-related disorder [RCV004535771]|Frontometaphyseal dysplasia 1 [RCV000714633]|Heterotopia, periventricular, X-linked dominant [RCV002532972] |
ChrX:154364273 [GRCh38]
ChrX:153592641 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.3127G>T (p.Val1043Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313489]|Heterotopia, periventricular, X-linked dominant [RCV001862036]|Heterotopia, periventricular, X-linked dominant [RCV002246007]|not provided [RCV002275147] |
ChrX:154361388 [GRCh38]
ChrX:153589756 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2974A>G (p.Thr992Ala) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV000767980]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313493]|Heterotopia, periventricular, X-linked dominant [RCV001484126] |
ChrX:154361541 [GRCh38]
ChrX:153589909 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.1270A>G (p.Met424Val) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV002485809]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315302]|Heterotopia, periventricular, X-linked dominant [RCV001862046]|not provided [RCV001546023] |
ChrX:154366183 [GRCh38]
ChrX:153594551 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.3387C>G (p.Thr1129=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002318044]|Heterotopia, periventricular, X-linked dominant [RCV001509682]|not provided [RCV001644793] |
ChrX:154360408 [GRCh38]
ChrX:153588776 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.3603G>A (p.Ala1201=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313599]|Heterotopia, periventricular, X-linked dominant [RCV001408820] |
ChrX:154360192 [GRCh38]
ChrX:153588560 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3234G>C (p.Gln1078His) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002318805] |
ChrX:154360561 [GRCh38]
ChrX:153588929 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7092C>T (p.Ile2364=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002316727]|Heterotopia, periventricular, X-linked dominant [RCV002534948] |
ChrX:154350973 [GRCh38]
ChrX:153579341 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1851G>T (p.Ser617=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002317537] |
ChrX:154364697 [GRCh38]
ChrX:153593065 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5219C>T (p.Ala1740Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002318232]|Heterotopia, periventricular, X-linked dominant [RCV001868373]|not provided [RCV000757308] |
ChrX:154354710 [GRCh38]
ChrX:153583078 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2632G>A (p.Glu878Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002318243]|Heterotopia, periventricular, X-linked dominant [RCV001862083] |
ChrX:154362266 [GRCh38]
ChrX:153590634 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1399C>T (p.Arg467Cys) |
single nucleotide variant |
FG syndrome 2 [RCV001332001]|Familial thoracic aortic aneurysm and aortic dissection [RCV002318784]|Heterotopia, periventricular, X-linked dominant [RCV003768147] |
ChrX:154366054 [GRCh38]
ChrX:153594422 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.4294C>A (p.Gln1432Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002315348]|Heterotopia, periventricular, X-linked dominant [RCV001060925] |
ChrX:154359255 [GRCh38]
ChrX:153587623 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.5062G>A (p.Val1688Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002318681]|Heterotopia, periventricular, X-linked dominant [RCV002534931] |
ChrX:154354980 [GRCh38]
ChrX:153583348 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.1688G>A (p.Arg563His) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002318721]|Heterotopia, periventricular, X-linked dominant [RCV001224183] |
ChrX:154365139 [GRCh38]
ChrX:153593507 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.1807G>A (p.Gly603Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002318222]|Heterotopia, periventricular, X-linked dominant [RCV001868372]|not provided [RCV004546558] |
ChrX:154364842 [GRCh38]
ChrX:153593210 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.5199C>T (p.Asn1733=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002318236]|Heterotopia, periventricular, X-linked dominant [RCV001474561]|not provided [RCV000872344] |
ChrX:154354843 [GRCh38]
ChrX:153583211 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4759C>T (p.Pro1587Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002318281] |
ChrX:154357620 [GRCh38]
ChrX:153585988 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1455G>A (p.Ala485=) |
single nucleotide variant |
FLNA-related disorder [RCV004535800]|Familial thoracic aortic aneurysm and aortic dissection [RCV002318315]|Heterotopia, periventricular, X-linked dominant [RCV001868376]|not specified [RCV003330921] |
ChrX:154365461 [GRCh38]
ChrX:153593829 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.7530C>T (p.Ser2510=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002317576]|Heterotopia, periventricular, X-linked dominant [RCV001422158] |
ChrX:154349671 [GRCh38]
ChrX:153578039 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5275C>G (p.Pro1759Ala) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000720969]|not provided [RCV004760756] |
ChrX:154354654 [GRCh38]
ChrX:153583022 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.5977C>T (p.Arg1993Trp) |
single nucleotide variant |
FLNA-related disorder [RCV004535801]|Familial thoracic aortic aneurysm and aortic dissection [RCV002318884]|Heterotopia, periventricular, X-linked dominant [RCV001514074]|not provided [RCV001567508] |
ChrX:154353341 [GRCh38]
ChrX:153581709 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.3093G>A (p.Val1031=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002317511]|Heterotopia, periventricular, X-linked dominant [RCV002533050] |
ChrX:154361422 [GRCh38]
ChrX:153589790 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7835G>A (p.Arg2612Gln) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002317628]|Heterotopia, periventricular, X-linked dominant [RCV001487070]|not provided [RCV000892533] |
ChrX:154348958 [GRCh38]
ChrX:153577326 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.1894G>A (p.Asp632Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002317635]|Heterotopia, periventricular, X-linked dominant [RCV001054971]|not provided [RCV001552337] |
ChrX:154364654 [GRCh38]
ChrX:153593022 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.1881C>T (p.Gly627=) |
single nucleotide variant |
FLNA-related disorder [RCV004540025]|Familial thoracic aortic aneurysm and aortic dissection [RCV002318163]|Heterotopia, periventricular, X-linked dominant [RCV000863908]|not provided [RCV001712786]|not specified [RCV003151140] |
ChrX:154364667 [GRCh38]
ChrX:153593035 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.63C>T (p.Val21=) |
single nucleotide variant |
FLNA-related disorder [RCV004545006]|Familial thoracic aortic aneurysm and aortic dissection [RCV002363531]|Heterotopia, periventricular, X-linked dominant [RCV001513098]|not specified [RCV001000476] |
ChrX:154371183 [GRCh38]
ChrX:153599551 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.61G>T (p.Val21Phe) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002360982]|Heterotopia, periventricular, X-linked dominant [RCV002235303] |
ChrX:154371185 [GRCh38]
ChrX:153599553 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1204A>G (p.Thr402Ala) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV000767982] |
ChrX:154366332 [GRCh38]
ChrX:153594700 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7812C>T (p.Ile2604=) |
single nucleotide variant |
not specified [RCV001001920] |
ChrX:154348981 [GRCh38]
ChrX:153577349 [GRCh37]
ChrX:Xq28 |
likely benign |
| GRCh37/hg19 Xq27.1-28(chrX:138750575-155246749)x1 |
copy number loss |
not provided [RCV000753810] |
ChrX:138750575..155246749 [GRCh37]
ChrX:Xq27.1-28 |
pathogenic |
| GRCh37/hg19 Xq28(chrX:152806628-153626649)x2 |
copy number gain |
not provided [RCV000753922] |
ChrX:152806628..153626649 [GRCh37]
ChrX:Xq28 |
pathogenic |
| GRCh37/hg19 Xq28(chrX:153184816-153626794)x3 |
copy number gain |
not provided [RCV000753930] |
ChrX:153184816..153626794 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| GRCh37/hg19 Xq27.1-28(chrX:139504958-155254881)x1 |
copy number loss |
not provided [RCV000753815] |
ChrX:139504958..155254881 [GRCh37]
ChrX:Xq27.1-28 |
pathogenic |
| NM_001110556.2(FLNA):c.3921C>T (p.Thr1307=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002071953]|not provided [RCV001540616] |
ChrX:154359790 [GRCh38]
ChrX:153588158 [GRCh37]
ChrX:Xq28 |
likely benign |
| GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 |
copy number gain |
not provided [RCV000753277] |
ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 |
copy number loss |
not provided [RCV000753606] |
ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 |
copy number loss |
not provided [RCV000753271] |
ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 |
copy number loss |
not provided [RCV000753278] |
ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 |
copy number gain |
not provided [RCV000753272] |
ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| Single allele |
duplication |
Autism [RCV000754365] |
ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 |
copy number gain |
not provided [RCV000753276] |
ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 |
copy number loss |
not provided [RCV000753556] |
ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28 |
pathogenic |
| NM_001110556.2(FLNA):c.6163C>T (p.Gln2055Ter) |
single nucleotide variant |
not provided [RCV001532223] |
ChrX:154353064 [GRCh38]
ChrX:153581432 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.1095C>T (p.Ile365=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002454159]|Heterotopia, periventricular, X-linked dominant [RCV001519718]|not provided [RCV000940920] |
ChrX:154366441 [GRCh38]
ChrX:153594809 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.4755G>A (p.Thr1585=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002001849] |
ChrX:154358199 [GRCh38]
ChrX:153586567 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3318C>T (p.Gly1106=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001480967] |
ChrX:154360477 [GRCh38]
ChrX:153588845 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1429+9G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000869563]|not provided [RCV003736930]|not specified [RCV004800621] |
ChrX:154366015 [GRCh38]
ChrX:153594383 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2838C>T (p.Gly946=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000861999] |
ChrX:154361776 [GRCh38]
ChrX:153590144 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.169C>T (p.Leu57=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001416200] |
ChrX:154371077 [GRCh38]
ChrX:153599445 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1854G>C (p.Gln618His) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002570830]|not provided [RCV001583509] |
ChrX:154364694 [GRCh38]
ChrX:153593062 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.5889A>G (p.Leu1963=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003103853] |
ChrX:154353429 [GRCh38]
ChrX:153581797 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4749G>T (p.Gln1583His) |
single nucleotide variant |
not provided [RCV001597477] |
ChrX:154358205 [GRCh38]
ChrX:153586573 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6507T>C (p.Ile2169=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004027850]|Heterotopia, periventricular, X-linked dominant [RCV001397478]|not provided [RCV003884777] |
ChrX:154352443 [GRCh38]
ChrX:153580811 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2945-11C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002573231]|not provided [RCV001574672] |
ChrX:154361581 [GRCh38]
ChrX:153589949 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2280+9A>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000869861] |
ChrX:154364013 [GRCh38]
ChrX:153592381 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6639C>T (p.Ser2213=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001455434] |
ChrX:154352311 [GRCh38]
ChrX:153580679 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2020_2021del (p.Arg674fs) |
deletion |
FLNA related lung disease [RCV000761292] |
ChrX:154364527..154364528 [GRCh38]
ChrX:153592895..153592896 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.861C>G (p.Tyr287Ter) |
single nucleotide variant |
FLNA related lung disease [RCV000761278] |
ChrX:154367404 [GRCh38]
ChrX:153595772 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.2827-2A>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001065114] |
ChrX:154361789 [GRCh38]
ChrX:153590157 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.7468A>G (p.Met2490Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001065270]|not provided [RCV001759832] |
ChrX:154349733 [GRCh38]
ChrX:153578101 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.6541C>A (p.Pro2181Thr) |
single nucleotide variant |
not provided [RCV000762686] |
ChrX:154352409 [GRCh38]
ChrX:153580777 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5255T>C (p.Leu1752Pro) |
single nucleotide variant |
FLNA-related disorder [RCV004535894]|Heterotopia, periventricular, X-linked dominant [RCV001201534]|See cases [RCV004584410]|not provided [RCV000762687] |
ChrX:154354674 [GRCh38]
ChrX:153583042 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2260A>G (p.Ile754Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002442571]|not provided [RCV000762688] |
ChrX:154364042 [GRCh38]
ChrX:153592410 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.3588G>C (p.Glu1196Asp) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001044500] |
ChrX:154360207 [GRCh38]
ChrX:153588575 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4660G>A (p.Gly1554Arg) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV000787478]|Familial thoracic aortic aneurysm and aortic dissection [RCV004822196]|not provided [RCV001269936] |
ChrX:154358294 [GRCh38]
ChrX:153586662 [GRCh37]
ChrX:Xq28 |
pathogenic|likely pathogenic |
| NM_001110556.2(FLNA):c.6707G>T (p.Gly2236Val) |
single nucleotide variant |
Prune belly syndrome [RCV000985242] |
ChrX:154352243 [GRCh38]
ChrX:153580611 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.-117+80G>T |
single nucleotide variant |
not provided [RCV001725700] |
ChrX:154374426 [GRCh38]
ChrX:153602794 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.6178G>T (p.Gly2060Cys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001046155] |
ChrX:154353049 [GRCh38]
ChrX:153581417 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2826+9A>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001439842] |
ChrX:154361970 [GRCh38]
ChrX:153590338 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1932C>T (p.Ala644=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002409053]|Heterotopia, periventricular, X-linked dominant [RCV000867484]|not provided [RCV001568984] |
ChrX:154364616 [GRCh38]
ChrX:153592984 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.441C>T (p.His147=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002332854]|Heterotopia, periventricular, X-linked dominant [RCV000884182] |
ChrX:154368023 [GRCh38]
ChrX:153596391 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4050C>T (p.Thr1350=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001493132]|not provided [RCV003311920] |
ChrX:154359576 [GRCh38]
ChrX:153587944 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5751T>C (p.Asp1917=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002346156]|Heterotopia, periventricular, X-linked dominant [RCV001470574] |
ChrX:154353663 [GRCh38]
ChrX:153582031 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1383C>T (p.Ala461=) |
single nucleotide variant |
FLNA-related disorder [RCV004735844]|Familial thoracic aortic aneurysm and aortic dissection [RCV002381962]|Heterotopia, periventricular, X-linked dominant [RCV001493857] |
ChrX:154366070 [GRCh38]
ChrX:153594438 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3120C>G (p.Pro1040=) |
single nucleotide variant |
FLNA-related disorder [RCV004533623]|Heterotopia, periventricular, X-linked dominant [RCV002546003] |
ChrX:154361395 [GRCh38]
ChrX:153589763 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.958G>A (p.Val320Met) |
single nucleotide variant |
FLNA-related disorder [RCV004735845]|Familial thoracic aortic aneurysm and aortic dissection [RCV002381975]|Heterotopia, periventricular, X-linked dominant [RCV000870425]|not provided [RCV001585829]|not specified [RCV004702489] |
ChrX:154366761 [GRCh38]
ChrX:153595129 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.2064C>G (p.Ala688=) |
single nucleotide variant |
not provided [RCV000904479] |
ChrX:154364331 [GRCh38]
ChrX:153592699 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2405-8_2405-5dup |
duplication |
Familial thoracic aortic aneurysm and aortic dissection [RCV003169481]|Heterotopia, periventricular, X-linked dominant [RCV001521259]|not provided [RCV003319429]|not specified [RCV003489982] |
ChrX:154362582..154362583 [GRCh38]
ChrX:153590950..153590951 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.374-10C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001479068] |
ChrX:154368100 [GRCh38]
ChrX:153596468 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2076A>G (p.Pro692=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001472914] |
ChrX:154364319 [GRCh38]
ChrX:153592687 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4737G>A (p.Leu1579=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002336891]|Heterotopia, periventricular, X-linked dominant [RCV002542087] |
ChrX:154358217 [GRCh38]
ChrX:153586585 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3570C>T (p.Ser1190=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004619442]|Heterotopia, periventricular, X-linked dominant [RCV001481771] |
ChrX:154360225 [GRCh38]
ChrX:153588593 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1749C>T (p.Gly583=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002399889]|Heterotopia, periventricular, X-linked dominant [RCV001510675] |
ChrX:154364900 [GRCh38]
ChrX:153593268 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.1260C>T (p.Ile420=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000867956] |
ChrX:154366193 [GRCh38]
ChrX:153594561 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.720+8C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000867762] |
ChrX:154367633 [GRCh38]
ChrX:153596001 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7089G>A (p.Ala2363=) |
single nucleotide variant |
FLNA-related disorder [RCV004540193]|Familial thoracic aortic aneurysm and aortic dissection [RCV002363231]|Heterotopia, periventricular, X-linked dominant [RCV000865951]|not provided [RCV001811520] |
ChrX:154350976 [GRCh38]
ChrX:153579344 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4945+8C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001442544]|not provided [RCV003736925] |
ChrX:154357426 [GRCh38]
ChrX:153585794 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.108G>A (p.Ala36=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004027710]|Heterotopia, periventricular, X-linked dominant [RCV000868035] |
ChrX:154371138 [GRCh38]
ChrX:153599506 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.36A>T (p.Ala12=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002346092]|Heterotopia, periventricular, X-linked dominant [RCV001434991] |
ChrX:154371210 [GRCh38]
ChrX:153599578 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5283C>T (p.Tyr1761=) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV002487906]|FLNA-related disorder [RCV004540207]|Heterotopia, periventricular, X-linked dominant [RCV000867918] |
ChrX:154354646 [GRCh38]
ChrX:153583014 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6666T>G (p.Pro2222=) |
single nucleotide variant |
FLNA-related disorder [RCV004543553]|Heterotopia, periventricular, X-linked dominant [RCV002066256] |
ChrX:154352284 [GRCh38]
ChrX:153580652 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6227-9A>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001472425] |
ChrX:154352933 [GRCh38]
ChrX:153581301 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5025C>T (p.Asp1675=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001468811] |
ChrX:154355017 [GRCh38]
ChrX:153583385 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3843C>T (p.Asp1281=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004822251]|Heterotopia, periventricular, X-linked dominant [RCV000867380] |
ChrX:154359868 [GRCh38]
ChrX:153588236 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6001C>T (p.Arg2001Trp) |
single nucleotide variant |
FLNA-related disorder [RCV004538268]|Familial thoracic aortic aneurysm and aortic dissection [RCV004822253]|Heterotopia, periventricular, X-linked dominant [RCV000868198]|not provided [RCV001575758] |
ChrX:154353317 [GRCh38]
ChrX:153581685 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.7559G>A (p.Arg2520His) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003160489]|Heterotopia, periventricular, X-linked dominant [RCV001061077]|Thrombocytopenia [RCV003447576] |
ChrX:154349559 [GRCh38]
ChrX:153577927 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.1608C>T (p.Gly536=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002402481]|Heterotopia, periventricular, X-linked dominant [RCV001070901]|not specified [RCV004800689] |
ChrX:154365219 [GRCh38]
ChrX:153593587 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.3653C>G (p.Thr1218Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001062136] |
ChrX:154360142 [GRCh38]
ChrX:153588510 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1192G>T (p.Ala398Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001049509]|not provided [RCV001529204] |
ChrX:154366344 [GRCh38]
ChrX:153594712 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.5760C>A (p.Cys1920Ter) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001061715] |
ChrX:154353654 [GRCh38]
ChrX:153582022 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.1034G>A (p.Trp345Ter) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001058596] |
ChrX:154366593 [GRCh38]
ChrX:153594961 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.3256G>A (p.Ala1086Thr) |
single nucleotide variant |
FG syndrome 2 [RCV001007866]|Heterotopia, periventricular, X-linked dominant [RCV002549270] |
ChrX:154360539 [GRCh38]
ChrX:153588907 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3763A>G (p.Thr1255Ala) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001056725] |
ChrX:154360032 [GRCh38]
ChrX:153588400 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3618G>A (p.Glu1206=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001048124] |
ChrX:154360177 [GRCh38]
ChrX:153588545 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.1159C>T (p.Gln387Ter) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001071657] |
ChrX:154366377 [GRCh38]
ChrX:153594745 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.2364G>A (p.Glu788=) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV000767981]|FLNA-related disorder [RCV004540087]|Familial thoracic aortic aneurysm and aortic dissection [RCV002442572]|Heterotopia, periventricular, X-linked dominant [RCV001391710]|not provided [RCV000869443] |
ChrX:154362701 [GRCh38]
ChrX:153591069 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 |
copy number loss |
not provided [RCV000849097] |
ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28 |
pathogenic |
| NM_001110556.2(FLNA):c.2233G>T (p.Ala745Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002235389] |
ChrX:154364069 [GRCh38]
ChrX:153592437 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4142+1G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002235125] |
ChrX:154359483 [GRCh38]
ChrX:153587851 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.7188G>C (p.Glu2396Asp) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002233857] |
ChrX:154350176 [GRCh38]
ChrX:153578544 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7202T>C (p.Leu2401Pro) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002234314] |
ChrX:154350162 [GRCh38]
ChrX:153578530 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4343C>T (p.Ala1448Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002235904]|not provided [RCV002508261] |
ChrX:154359115 [GRCh38]
ChrX:153587483 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.1799A>G (p.Glu600Gly) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002406820]|Heterotopia, periventricular, X-linked dominant [RCV002538065] |
ChrX:154364850 [GRCh38]
ChrX:153593218 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1023C>A (p.Thr341=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003768573]|not provided [RCV000827341] |
ChrX:154366604 [GRCh38]
ChrX:153594972 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7018C>G (p.Leu2340Val) |
single nucleotide variant |
not provided [RCV000788661] |
ChrX:154351586 [GRCh38]
ChrX:153579954 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7784A>C (p.His2595Pro) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002234824] |
ChrX:154349009 [GRCh38]
ChrX:153577377 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 |
copy number loss |
not provided [RCV000846274] |
ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28 |
pathogenic |
| GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 |
copy number loss |
not provided [RCV000846958] |
ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28 |
pathogenic |
| GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 |
copy number loss |
not provided [RCV000847838] |
ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28 |
pathogenic |
| NM_001110556.2(FLNA):c.1665G>A (p.Thr555=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002390823]|Heterotopia, periventricular, X-linked dominant [RCV000873295]|not provided [RCV003438529] |
ChrX:154365162 [GRCh38]
ChrX:153593530 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3477C>T (p.Asp1159=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002064523]|not provided [RCV000865932] |
ChrX:154360318 [GRCh38]
ChrX:153588686 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7659G>C (p.Gly2553=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002390783]|Heterotopia, periventricular, X-linked dominant [RCV002064555] |
ChrX:154349459 [GRCh38]
ChrX:153577827 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2281-7C>T |
single nucleotide variant |
not provided [RCV000929538] |
ChrX:154362791 [GRCh38]
ChrX:153591159 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2023-5G>A |
single nucleotide variant |
FLNA-related disorder [RCV004538179]|Familial thoracic aortic aneurysm and aortic dissection [RCV002415979]|Heterotopia, periventricular, X-linked dominant [RCV000861508] |
ChrX:154364377 [GRCh38]
ChrX:153592745 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.6238C>T (p.Leu2080Phe) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002352524]|Heterotopia, periventricular, X-linked dominant [RCV000864751]|not provided [RCV001664498] |
ChrX:154352913 [GRCh38]
ChrX:153581281 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.2657-9del |
deletion |
not provided [RCV000902875] |
ChrX:154362157 [GRCh38]
ChrX:153590525 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1045G>A (p.Glu349Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002400070]|Heterotopia, periventricular, X-linked dominant [RCV002066179]|not provided [RCV003332272] |
ChrX:154366582 [GRCh38]
ChrX:153594950 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.5289C>T (p.Tyr1763=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002336784]|Heterotopia, periventricular, X-linked dominant [RCV001400066]|not provided [RCV000866439]|not specified [RCV004768724] |
ChrX:154354640 [GRCh38]
ChrX:153583008 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3429C>A (p.Thr1143=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002453972]|Heterotopia, periventricular, X-linked dominant [RCV000866744] |
ChrX:154360366 [GRCh38]
ChrX:153588734 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6479G>A (p.Cys2160Tyr) |
single nucleotide variant |
Prune belly syndrome [RCV000984547] |
ChrX:154352576 [GRCh38]
ChrX:153580944 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.6707G>A (p.Gly2236Glu) |
single nucleotide variant |
Prune belly syndrome [RCV000984548] |
ChrX:154352243 [GRCh38]
ChrX:153580611 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4887C>T (p.Phe1629=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003768728] |
ChrX:154357492 [GRCh38]
ChrX:153585860 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6363C>T (p.Ala2121=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002363373]|Heterotopia, periventricular, X-linked dominant [RCV001401072]|not provided [RCV000918889] |
ChrX:154352788 [GRCh38]
ChrX:153581156 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7558C>T (p.Arg2520Cys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000871844]|not provided [RCV001766780] |
ChrX:154349560 [GRCh38]
ChrX:153577928 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.4044C>T (p.Pro1348=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002320048]|Heterotopia, periventricular, X-linked dominant [RCV001516983]|not provided [RCV000875867]|not specified [RCV003323752] |
ChrX:154359582 [GRCh38]
ChrX:153587950 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.3996C>T (p.Asp1332=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002319985]|Heterotopia, periventricular, X-linked dominant [RCV000867827] |
ChrX:154359630 [GRCh38]
ChrX:153587998 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1170C>A (p.Gly390=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000980496] |
ChrX:154366366 [GRCh38]
ChrX:153594734 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1806C>T (p.Ile602=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002409059]|Heterotopia, periventricular, X-linked dominant [RCV001517834]|not provided [RCV000868076] |
ChrX:154364843 [GRCh38]
ChrX:153593211 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| GRCh37/hg19 Xq28(chrX:153174571-153609996) |
copy number gain |
Syndromic X-linked intellectual disability Lubs type [RCV000767661] |
ChrX:153174571..153609996 [GRCh37]
ChrX:Xq28 |
pathogenic |
| GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) |
copy number gain |
not provided [RCV000767679] |
ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28 |
pathogenic |
| NM_001110556.2(FLNA):c.2952C>T (p.Asp984=) |
single nucleotide variant |
FLNA-related disorder [RCV004538210]|Familial thoracic aortic aneurysm and aortic dissection [RCV002434078]|Heterotopia, periventricular, X-linked dominant [RCV001440720] |
ChrX:154361563 [GRCh38]
ChrX:153589931 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6289C>T (p.Leu2097=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004822256]|Heterotopia, periventricular, X-linked dominant [RCV000869788] |
ChrX:154352862 [GRCh38]
ChrX:153581230 [GRCh37]
ChrX:Xq28 |
likely benign |
| GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1 |
copy number loss |
See cases [RCV002285075] |
ChrX:77670699..155233731 [GRCh37]
ChrX:Xq21.1-28 |
pathogenic |
| NM_001110556.2(FLNA):c.6532G>C (p.Val2178Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV000767338] |
ChrX:154352418 [GRCh38]
ChrX:153580786 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1528G>A (p.Ala510Thr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002234870]|not provided [RCV001766707] |
ChrX:154365388 [GRCh38]
ChrX:153593756 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.3514C>G (p.Arg1172Gly) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002235102] |
ChrX:154360281 [GRCh38]
ChrX:153588649 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2183A>G (p.Asn728Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002427019]|Heterotopia, periventricular, X-linked dominant [RCV000816539]|not provided [RCV001561967] |
ChrX:154364119 [GRCh38]
ChrX:153592487 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.4457A>T (p.Lys1486Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002234826] |
ChrX:154359001 [GRCh38]
ChrX:153587369 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.29A>G (p.Gln10Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002234288]|not provided [RCV002274101] |
ChrX:154371217 [GRCh38]
ChrX:153599585 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.7A>G (p.Ser3Gly) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002235328] |
ChrX:154371239 [GRCh38]
ChrX:153599607 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.988-9C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001418487]|not provided [RCV000977116] |
ChrX:154366648 [GRCh38]
ChrX:153595016 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1823C>T (p.Thr608Met) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV002495167]|Heterotopia, periventricular, X-linked dominant [RCV002235121]|Myopathy, centronuclear, 2 [RCV004813143]|not provided [RCV002067401] |
ChrX:154364826 [GRCh38]
ChrX:153593194 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NC_000023.10:g.(?_153577207)_(153650075_?)dup |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV000816614] |
ChrX:153577207..153650075 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2614G>A (p.Ala872Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002427058]|Heterotopia, periventricular, X-linked dominant [RCV000821182] |
ChrX:154362284 [GRCh38]
ChrX:153590652 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NC_000023.10:g.(?_152990712)_(153650075_?)del |
deletion |
X-linked Emery-Dreifuss muscular dystrophy [RCV000823256] |
ChrX:152990712..153650075 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.7333+17G>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002068612]|not provided [RCV000842267] |
ChrX:154350014 [GRCh38]
ChrX:153578382 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6022+3A>G |
single nucleotide variant |
not provided [RCV000788119] |
ChrX:154353293 [GRCh38]
ChrX:153581661 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7846G>A (p.Val2616Met) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV004561799]|FG syndrome 2 [RCV003387931]|Familial thoracic aortic aneurysm and aortic dissection [RCV002406720]|Heterotopia, periventricular, X-linked dominant [RCV000791510]|not specified [RCV003330954] |
ChrX:154348947 [GRCh38]
ChrX:153577315 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3929A>G (p.Gln1310Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002234200] |
ChrX:154359782 [GRCh38]
ChrX:153588150 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.1828+39C>T |
single nucleotide variant |
not provided [RCV000834608] |
ChrX:154364782 [GRCh38]
ChrX:153593150 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.2281-196T>C |
single nucleotide variant |
not provided [RCV000834609] |
ChrX:154362980 [GRCh38]
ChrX:153591348 [GRCh37]
ChrX:Xq28 |
benign |
| NC_000023.10:g.(?_153128108)_(153609567_?)dup |
duplication |
X-linked Emery-Dreifuss muscular dystrophy [RCV000795425] |
ChrX:153128108..153609567 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4465G>C (p.Gly1489Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002332601]|Heterotopia, periventricular, X-linked dominant [RCV002234282] |
ChrX:154358993 [GRCh38]
ChrX:153587361 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6657G>A (p.Gln2219=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002363253]|Heterotopia, periventricular, X-linked dominant [RCV000869717] |
ChrX:154352293 [GRCh38]
ChrX:153580661 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5482G>A (p.Val1828Met) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002233853] |
ChrX:154354226 [GRCh38]
ChrX:153582594 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.4070G>A (p.Arg1357Gln) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002234231]|not provided [RCV004692257] |
ChrX:154359556 [GRCh38]
ChrX:153587924 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.4834G>C (p.Val1612Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002234249] |
ChrX:154357545 [GRCh38]
ChrX:153585913 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1429+83C>T |
single nucleotide variant |
not provided [RCV000834909] |
ChrX:154365941 [GRCh38]
ChrX:153594309 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.2281-341A>C |
single nucleotide variant |
not provided [RCV000840388] |
ChrX:154363125 [GRCh38]
ChrX:153591493 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.2281-324A>C |
single nucleotide variant |
not provided [RCV000840389] |
ChrX:154363108 [GRCh38]
ChrX:153591476 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.3208-343G>A |
single nucleotide variant |
not provided [RCV000840390] |
ChrX:154360930 [GRCh38]
ChrX:153589298 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.4903C>T (p.Arg1635Cys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004822202]|Heterotopia, periventricular, X-linked dominant [RCV002233869] |
ChrX:154357476 [GRCh38]
ChrX:153585844 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NC_000023.10:g.(?_153577207)_(153599623_?)dup |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV000795445] |
ChrX:153577207..153599623 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3107G>A (p.Arg1036His) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000804267]|not provided [RCV001592997] |
ChrX:154361408 [GRCh38]
ChrX:153589776 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.7174T>C (p.Phe2392Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000804857]|not provided [RCV001759539] |
ChrX:154350190 [GRCh38]
ChrX:153578558 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.7350C>T (p.Phe2450=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004619446]|Heterotopia, periventricular, X-linked dominant [RCV001520892] |
ChrX:154349851 [GRCh38]
ChrX:153578219 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.1424G>A (p.Gly475Asp) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002234723] |
ChrX:154366029 [GRCh38]
ChrX:153594397 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.4174G>A (p.Val1392Ile) |
single nucleotide variant |
FLNA-related disorder [RCV004538108]|Heterotopia, periventricular, X-linked dominant [RCV000807375] |
ChrX:154359375 [GRCh38]
ChrX:153587743 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.345C>T (p.Asp115=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001479196] |
ChrX:154370901 [GRCh38]
ChrX:153599269 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4544G>A (p.Arg1515Gln) |
single nucleotide variant |
FLNA-related disorder [RCV004735810]|Familial thoracic aortic aneurysm and aortic dissection [RCV002336626]|Heterotopia, periventricular, X-linked dominant [RCV002234965]|not specified [RCV004800593] |
ChrX:154358499 [GRCh38]
ChrX:153586867 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2764G>C (p.Asp922His) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000805003]|Intellectual disability [RCV001260711] |
ChrX:154362041 [GRCh38]
ChrX:153590409 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5879dup (p.Met1960fs) |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV002234739] |
ChrX:154353438..154353439 [GRCh38]
ChrX:153581806..153581807 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.3337G>A (p.Glu1113Lys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002235899]|not provided [RCV004768670] |
ChrX:154360458 [GRCh38]
ChrX:153588826 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.869-28C>G |
single nucleotide variant |
not provided [RCV000830126] |
ChrX:154366878 [GRCh38]
ChrX:153595246 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.2280+189T>C |
single nucleotide variant |
not provided [RCV000833583] |
ChrX:154363833 [GRCh38]
ChrX:153592201 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.4474+4A>G |
single nucleotide variant |
not provided [RCV000840662] |
ChrX:154358980 [GRCh38]
ChrX:153587348 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.972C>T (p.Ala324=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001512711] |
ChrX:154366747 [GRCh38]
ChrX:153595115 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.6861C>T (p.Asp2287=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002363427]|Heterotopia, periventricular, X-linked dominant [RCV001505024] |
ChrX:154351930 [GRCh38]
ChrX:153580298 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1796T>A (p.Val599Glu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000808756] |
ChrX:154364853 [GRCh38]
ChrX:153593221 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6983C>T (p.Pro2328Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000808048]|not specified [RCV001002059] |
ChrX:154351621 [GRCh38]
ChrX:153579989 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1249G>A (p.Glu417Lys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002234882] |
ChrX:154366204 [GRCh38]
ChrX:153594572 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.6481G>A (p.Asp2161Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002363115]|Heterotopia, periventricular, X-linked dominant [RCV000814405]|not provided [RCV001811501] |
ChrX:154352574 [GRCh38]
ChrX:153580942 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.4772C>T (p.Pro1591Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002235050]|Sudden unexplained death in childhood [RCV001788358]|not provided [RCV001550579] |
ChrX:154357607 [GRCh38]
ChrX:153585975 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001456.3:c.6203-7C>T |
single nucleotide variant |
not provided [RCV000833950] |
ChrX:153581299 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2452del (p.Ala818fs) |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV002235337] |
ChrX:154362531 [GRCh38]
ChrX:153590899 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.13C>T (p.His5Tyr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001858427]|not provided [RCV000830735] |
ChrX:154371233 [GRCh38]
ChrX:153599601 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.5097C>T (p.Asp1699=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002336735]|Heterotopia, periventricular, X-linked dominant [RCV002536108]|not provided [RCV000828393] |
ChrX:154354945 [GRCh38]
ChrX:153583313 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7157-170C>G |
single nucleotide variant |
not provided [RCV000834761] |
ChrX:154350377 [GRCh38]
ChrX:153578745 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.374-166C>A |
single nucleotide variant |
not provided [RCV000834908] |
ChrX:154368256 [GRCh38]
ChrX:153596624 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.1829-1G>C |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV000787477] |
ChrX:154364720 [GRCh38]
ChrX:153593088 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NC_000023.10:g.(?_153295726)_(153596478_?)dup |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV000794826] |
ChrX:153295726..153596478 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.4725C>T (p.Ala1575=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003307574]|Heterotopia, periventricular, X-linked dominant [RCV001443897]|not provided [RCV000839308] |
ChrX:154358229 [GRCh38]
ChrX:153586597 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2204A>G (p.Tyr735Cys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002234306] |
ChrX:154364098 [GRCh38]
ChrX:153592466 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6916G>A (p.Glu2306Lys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000799126] |
ChrX:154351688 [GRCh38]
ChrX:153580056 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7156+20C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002068624]|not provided [RCV000842481] |
ChrX:154350889 [GRCh38]
ChrX:153579257 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3370G>A (p.Val1124Met) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002536119]|not provided [RCV000840194] |
ChrX:154360425 [GRCh38]
ChrX:153588793 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.6437G>A (p.Arg2146His) |
single nucleotide variant |
not provided [RCV000992001] |
ChrX:154352618 [GRCh38]
ChrX:153580986 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.84G>C (p.Met28Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002234234] |
ChrX:154371162 [GRCh38]
ChrX:153599530 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7872_7873del (p.Glu2625fs) |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV000807730] |
ChrX:154348920..154348921 [GRCh38]
ChrX:153577288..153577289 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.373+61T>C |
single nucleotide variant |
not provided [RCV000833581] |
ChrX:154370812 [GRCh38]
ChrX:153599180 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.869-200A>G |
single nucleotide variant |
not provided [RCV000833582] |
ChrX:154367050 [GRCh38]
ChrX:153595418 [GRCh37]
ChrX:Xq28 |
benign |
| NC_000023.10:g.(?_153577207)_(153609567_?)dup |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV000811343] |
ChrX:153577207..153609567 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NC_000023.10:g.(?_153587342)_(153609567_?)dup |
duplication |
X-linked Emery-Dreifuss muscular dystrophy [RCV000815278] |
ChrX:153587342..153609567 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1997C>G (p.Ala666Gly) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002422830]|Heterotopia, periventricular, X-linked dominant [RCV002235075] |
ChrX:154364551 [GRCh38]
ChrX:153592919 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.1486C>T (p.Arg496Trp) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002235351]|not provided [RCV001766720] |
ChrX:154365430 [GRCh38]
ChrX:153593798 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3296_3304delinsTCGG (p.Gly1099fs) |
indel |
Heterotopia, periventricular, X-linked dominant [RCV002537459] |
ChrX:154360491..154360499 [GRCh38]
ChrX:153588859..153588867 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.2281-3C>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000821167] |
ChrX:154362787 [GRCh38]
ChrX:153591155 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2617A>C (p.Ser873Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001046354] |
ChrX:154362281 [GRCh38]
ChrX:153590649 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.869-41C>T |
single nucleotide variant |
not provided [RCV000830125] |
ChrX:154366891 [GRCh38]
ChrX:153595259 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.7024-39T>C |
single nucleotide variant |
not provided [RCV000830128] |
ChrX:154351080 [GRCh38]
ChrX:154351080..154351081 [GRCh38]
ChrX:153579448 [GRCh37]
ChrX:153579448..153579449 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.-116-48T>C |
single nucleotide variant |
not provided [RCV000830180] |
ChrX:154371409 [GRCh38]
ChrX:153599777 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.6568A>C (p.Ile2190Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002235440] |
ChrX:154352382 [GRCh38]
ChrX:153580750 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5009C>T (p.Thr1670Met) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002235442]|not provided [RCV003442116] |
ChrX:154355033 [GRCh38]
ChrX:153583401 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.20G>C (p.Arg7Pro) |
single nucleotide variant |
FLNA-related disorder [RCV004527818]|Heterotopia, periventricular, X-linked dominant [RCV001219313]|not provided [RCV001577378] |
ChrX:154371226 [GRCh38]
ChrX:153599594 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.70C>G (p.Arg24Gly) |
single nucleotide variant |
FLNA-related disorder [RCV004527819]|Heterotopia, periventricular, X-linked dominant [RCV001307455] |
ChrX:154371176 [GRCh38]
ChrX:153599544 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6316T>C (p.Tyr2106His) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002235280] |
ChrX:154352835 [GRCh38]
ChrX:153581203 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.1065+1G>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001043643] |
ChrX:154366561 [GRCh38]
ChrX:153594929 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.5875C>T (p.Arg1959Cys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002352379]|Heterotopia, periventricular, X-linked dominant [RCV003768508] |
ChrX:154353443 [GRCh38]
ChrX:153581811 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.1454C>T (p.Ala485Val) |
single nucleotide variant |
FLNA-related disorder [RCV004538103]|Familial thoracic aortic aneurysm and aortic dissection [RCV002388515]|Heterotopia, periventricular, X-linked dominant [RCV000805539] |
ChrX:154365462 [GRCh38]
ChrX:153593830 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 |
copy number loss |
not provided [RCV001007322] |
ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28 |
pathogenic |
| NM_001110556.2(FLNA):c.129G>C (p.Lys43Asn) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001044199] |
ChrX:154371117 [GRCh38]
ChrX:153599485 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4756-174C>G |
single nucleotide variant |
not provided [RCV000833847] |
ChrX:154357797 [GRCh38]
ChrX:153586165 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.5686+85A>G |
single nucleotide variant |
not provided [RCV000833848] |
ChrX:154353830 [GRCh38]
ChrX:154353830..154353831 [GRCh38]
ChrX:153582198 [GRCh37]
ChrX:153582198..153582199 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.7334-64T>C |
single nucleotide variant |
not provided [RCV000833849] |
ChrX:154349931 [GRCh38]
ChrX:153578299 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.387C>T (p.Ile129=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002352487]|Heterotopia, periventricular, X-linked dominant [RCV001435017]|not provided [RCV000840710] |
ChrX:154368077 [GRCh38]
ChrX:153596445 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3805+10C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000939048] |
ChrX:154359980 [GRCh38]
ChrX:153588348 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.237G>T (p.Ala79=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004619460]|Heterotopia, periventricular, X-linked dominant [RCV000939642] |
ChrX:154371009 [GRCh38]
ChrX:153599377 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6502+8C>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000794503] |
ChrX:154352545 [GRCh38]
ChrX:153580913 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.70C>T (p.Arg24Trp) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002235316]|not provided [RCV001556324] |
ChrX:154371176 [GRCh38]
ChrX:153599544 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4713T>C (p.Asp1571=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002336741]|not provided [RCV000841024] |
ChrX:154358241 [GRCh38]
ChrX:153586609 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2155G>A (p.Val719Met) |
single nucleotide variant |
not provided [RCV000788383] |
ChrX:154364147 [GRCh38]
ChrX:153592515 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6145C>T (p.Arg2049Cys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001869207]|not provided [RCV000788463] |
ChrX:154353082 [GRCh38]
ChrX:153581450 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2033G>A (p.Arg678His) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000796739] |
ChrX:154364362 [GRCh38]
ChrX:153592730 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.-116C>G |
single nucleotide variant |
not provided [RCV000841239] |
ChrX:154371361 [GRCh38]
ChrX:153599729 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.696G>A (p.Ala232=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002363190]|Heterotopia, periventricular, X-linked dominant [RCV001434863]|not provided [RCV000841257] |
ChrX:154367665 [GRCh38]
ChrX:153596033 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6310G>A (p.Val2104Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000800317] |
ChrX:154352841 [GRCh38]
ChrX:153581209 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3419T>A (p.Phe1140Tyr) |
single nucleotide variant |
not provided [RCV000788348] |
ChrX:154360376 [GRCh38]
ChrX:153588744 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3980-10A>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001410419] |
ChrX:154359656 [GRCh38]
ChrX:153588024 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5319G>A (p.Pro1773=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002345942]|Heterotopia, periventricular, X-linked dominant [RCV001515615] |
ChrX:154354478 [GRCh38]
ChrX:153582846 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.6022+45G>A |
single nucleotide variant |
not provided [RCV000834610] |
ChrX:154353251 [GRCh38]
ChrX:153581619 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.3255C>G (p.Pro1085=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002320024]|Heterotopia, periventricular, X-linked dominant [RCV001505766]|not provided [RCV003884772] |
ChrX:154360540 [GRCh38]
ChrX:153588908 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.619C>T (p.Pro207Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002235548] |
ChrX:154367845 [GRCh38]
ChrX:153596213 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7381G>T (p.Ala2461Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002235900]|not provided [RCV002285414] |
ChrX:154349820 [GRCh38]
ChrX:153578188 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.1991G>A (p.Arg664His) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000810134]|not provided [RCV001597215] |
ChrX:154364557 [GRCh38]
ChrX:153592925 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5686+3G>T |
single nucleotide variant |
not provided [RCV000788203] |
ChrX:154353912 [GRCh38]
ChrX:153582280 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1096G>A (p.Ala366Thr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000814940]|not provided [RCV003480859] |
ChrX:154366440 [GRCh38]
ChrX:153594808 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5417-44C>T |
single nucleotide variant |
not provided [RCV000830127] |
ChrX:154354335 [GRCh38]
ChrX:153582703 [GRCh37]
ChrX:Xq28 |
benign |
| NC_000023.10:g.(?_152954020)_(154096327_?)del |
deletion |
Adrenoleukodystrophy [RCV000815921] |
ChrX:152954020..154096327 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.946G>A (p.Val316Met) |
single nucleotide variant |
not provided [RCV000788402] |
ChrX:154366773 [GRCh38]
ChrX:153595141 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1882G>A (p.Asp628Asn) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001066242] |
ChrX:154364666 [GRCh38]
ChrX:153593034 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.4207A>T (p.Met1403Leu) |
single nucleotide variant |
not provided [RCV001091830] |
ChrX:154359342 [GRCh38]
ChrX:153587710 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| GRCh37/hg19 Xq28(chrX:153566612-153731506)x2 |
copy number gain |
not provided [RCV000847027] |
ChrX:153566612..153731506 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1119C>G (p.Tyr373Ter) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000851369] |
ChrX:154366417 [GRCh38]
ChrX:153594785 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.3306G>T (p.Leu1102=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000936264] |
ChrX:154360489 [GRCh38]
ChrX:153588857 [GRCh37]
ChrX:Xq28 |
likely benign |
| GRCh37/hg19 Xq28(chrX:153437215-153594094)x3 |
copy number gain |
not provided [RCV000848517] |
ChrX:153437215..153594094 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6001del (p.Arg2001fs) |
deletion |
not provided [RCV001009255] |
ChrX:154353317 [GRCh38]
ChrX:153581685 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| GRCh37/hg19 Xq28(chrX:153556428-153868487)x2 |
copy number gain |
not provided [RCV000845970] |
ChrX:153556428..153868487 [GRCh37]
ChrX:Xq28 |
pathogenic |
| GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 |
copy number loss |
not provided [RCV000845672] |
ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28 |
pathogenic |
| NM_001110556.2(FLNA):c.4710C>A (p.Ile1570=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002339610]|Heterotopia, periventricular, X-linked dominant [RCV001225830]|not provided [RCV001587255] |
ChrX:154358244 [GRCh38]
ChrX:153586612 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| GRCh37/hg19 Xq28(chrX:153255132-153636707)x3 |
copy number gain |
not provided [RCV000847428] |
ChrX:153255132..153636707 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.3677C>T (p.Pro1226Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001220052] |
ChrX:154360118 [GRCh38]
ChrX:153588486 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4904G>A (p.Arg1635His) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001206746] |
ChrX:154357475 [GRCh38]
ChrX:153585843 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NC_000023.10:g.(?_153577207)_(153642537_?)dup |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV001031667] |
ChrX:153577207..153642537 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1133_1134del (p.Gln378fs) |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV003769410]|not provided [RCV001008230] |
ChrX:154366402..154366403 [GRCh38]
ChrX:153594770..153594771 [GRCh37]
ChrX:Xq28 |
pathogenic|likely pathogenic |
| NM_001110556.2(FLNA):c.6373G>A (p.Val2125Met) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001222238] |
ChrX:154352778 [GRCh38]
ChrX:153581146 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.1409A>G (p.Tyr470Cys) |
single nucleotide variant |
not provided [RCV004812745] |
ChrX:154366044 [GRCh38]
ChrX:153594412 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NC_000023.10:g.(?_153577197)_(153599633_?)dup |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV001032841] |
ChrX:153577197..153599633 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1910C>T (p.Pro637Leu) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV001198242] |
ChrX:154364638 [GRCh38]
ChrX:153593006 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.1463G>A (p.Arg488Gln) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001232773] |
ChrX:154365453 [GRCh38]
ChrX:153593821 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2543T>C (p.Ile848Thr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001243606] |
ChrX:154362440 [GRCh38]
ChrX:153590808 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2527G>A (p.Ala843Thr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001214100] |
ChrX:154362456 [GRCh38]
ChrX:153590824 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.4121A>G (p.Asn1374Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001218733] |
ChrX:154359505 [GRCh38]
ChrX:153587873 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2281-6_2281-2dup |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV001221562] |
ChrX:154362785..154362786 [GRCh38]
ChrX:153591153..153591154 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2566-6C>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001221830] |
ChrX:154362338 [GRCh38]
ChrX:153590706 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2170A>G (p.Lys724Glu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001226653] |
ChrX:154364132 [GRCh38]
ChrX:153592500 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.622+5G>C |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV001196296] |
ChrX:154367837 [GRCh38]
ChrX:153596205 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.3801C>T (p.Gly1267=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002356998]|Heterotopia, periventricular, X-linked dominant [RCV001232582] |
ChrX:154359994 [GRCh38]
ChrX:153588362 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.3691G>A (p.Val1231Ile) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV001197889]|Heterotopia, periventricular, X-linked dominant [RCV001241517] |
ChrX:154360104 [GRCh38]
ChrX:153588472 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7450C>A (p.Arg2484Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001228651] |
ChrX:154349751 [GRCh38]
ChrX:153578119 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6990C>T (p.Gly2330=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001229387] |
ChrX:154351614 [GRCh38]
ChrX:153579982 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.4157G>A (p.Gly1386Asp) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001241522] |
ChrX:154359392 [GRCh38]
ChrX:153587760 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7612_7613del (p.Leu2538fs) |
microsatellite |
Heterotopia, periventricular, X-linked dominant [RCV001207731] |
ChrX:154349505..154349506 [GRCh38]
ChrX:153577873..153577874 [GRCh37]
ChrX:Xq28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 |
copy number gain |
not provided [RCV000846039] |
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq28(chrX:153154008-153624566)x2 |
copy number gain |
not provided [RCV000846110] |
ChrX:153154008..153624566 [GRCh37]
ChrX:Xq28 |
pathogenic |
| GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 |
copy number loss |
not provided [RCV000848218] |
ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28 |
uncertain significance |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 |
copy number loss |
not provided [RCV000848828] |
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_001110556.2(FLNA):c.7021C>T (p.Gln2341Ter) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000995766] |
ChrX:154351583 [GRCh38]
ChrX:153579951 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.6601C>T (p.Arg2201Cys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002363519]|Heterotopia, periventricular, X-linked dominant [RCV001858827]|not provided [RCV000996061] |
ChrX:154352349 [GRCh38]
ChrX:153580717 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.6445C>T (p.Arg2149Trp) |
single nucleotide variant |
not provided [RCV000996062] |
ChrX:154352610 [GRCh38]
ChrX:153580978 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6193C>T (p.Pro2065Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004822281]|Heterotopia, periventricular, X-linked dominant [RCV003769349]|not provided [RCV000996063] |
ChrX:154353034 [GRCh38]
ChrX:153581402 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6052G>A (p.Glu2018Lys) |
single nucleotide variant |
not provided [RCV000996064] |
ChrX:154353175 [GRCh38]
ChrX:153581543 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6002G>A (p.Arg2001Gln) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002354903]|Heterotopia, periventricular, X-linked dominant [RCV001205098]|not provided [RCV000996065] |
ChrX:154353316 [GRCh38]
ChrX:153581684 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.5242G>A (p.Val1748Met) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001365723]|not provided [RCV000996066] |
ChrX:154354687 [GRCh38]
ChrX:153583055 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4589T>C (p.Val1530Ala) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003769350]|not provided [RCV000996067] |
ChrX:154358454 [GRCh38]
ChrX:153586822 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2047G>C (p.Glu683Gln) |
single nucleotide variant |
not provided [RCV000996068] |
ChrX:154364348 [GRCh38]
ChrX:153592716 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1342C>A (p.Pro448Thr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001202813]|not provided [RCV001751373] |
ChrX:154366111 [GRCh38]
ChrX:153594479 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.115G>T (p.Ala39Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001217843] |
ChrX:154371131 [GRCh38]
ChrX:153599499 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2283dup (p.Asn762fs) |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV001232992] |
ChrX:154362781..154362782 [GRCh38]
ChrX:153591149..153591150 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.6805G>A (p.Gly2269Arg) |
single nucleotide variant |
not provided [RCV001172217] |
ChrX:154351986 [GRCh38]
ChrX:153580354 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7843A>G (p.Ser2615Gly) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001224498] |
ChrX:154348950 [GRCh38]
ChrX:153577318 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4750_4755+18del |
deletion |
Cardiac valvular dysplasia, X-linked [RCV001253331]|not provided [RCV001091829] |
ChrX:154358181..154358204 [GRCh38]
ChrX:153586549..153586572 [GRCh37]
ChrX:Xq28 |
pathogenic|likely pathogenic |
| NM_001110556.2(FLNA):c.3451A>G (p.Lys1151Glu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001235899] |
ChrX:154360344 [GRCh38]
ChrX:153588712 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1087C>T (p.Gln363Ter) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001241863] |
ChrX:154366449 [GRCh38]
ChrX:153594817 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.4474+3G>A |
single nucleotide variant |
FLNA-related disorder [RCV004545140]|Heterotopia, periventricular, X-linked dominant [RCV001232318] |
ChrX:154358981 [GRCh38]
ChrX:153587349 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.3497C>G (p.Ser1166Ter) |
single nucleotide variant |
Thrombocytopenia [RCV003313895] |
ChrX:154360298 [GRCh38]
ChrX:153588666 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.554T>C (p.Ile185Thr) |
single nucleotide variant |
not provided [RCV004776839] |
ChrX:154367910 [GRCh38]
ChrX:153596278 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NC_000023.10:g.(?_153585782)_(153775961_?)dup |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV003107407] |
ChrX:153585782..153775961 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NC_000023.10:g.(?_153195397)_(153583460_?)dup |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV003107408]|Methylmalonic acidemia with homocystinuria, type cblX [RCV003122559]|not provided [RCV003122560] |
ChrX:153195397..153583460 [GRCh37]
ChrX:Xq28 |
uncertain significance|no classifications from unflagged records |
| NM_001110556.2(FLNA):c.6606T>C (p.Phe2202=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003107307] |
ChrX:154352344 [GRCh38]
ChrX:153580712 [GRCh37]
ChrX:Xq28 |
likely benign |
| NC_000023.10:g.(?_153128118)_(153664237_?)dup |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV003107402] |
ChrX:153128118..153664237 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NC_000023.10:g.(?_153592874)_(153593874_?)del |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV003107403] |
ChrX:153592874..153593874 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NC_000023.10:g.(?_153595748)_(153596947_?)del |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV003107405] |
ChrX:153595748..153596947 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NC_000023.10:g.(?_153586547)_(153609557_?)dup |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV003107406] |
ChrX:153586547..153609557 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2022+3A>G |
single nucleotide variant |
FLNA-related disorder [RCV004534397] |
ChrX:154364523 [GRCh38]
ChrX:153592891 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4318del (p.Val1440fs) |
deletion |
not provided [RCV003318283] |
ChrX:154359140 [GRCh38]
ChrX:153587508 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.373+248C>G |
single nucleotide variant |
not provided [RCV001554904] |
ChrX:154370625 [GRCh38]
ChrX:153598993 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3396G>T (p.Gly1132=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003161088]|Heterotopia, periventricular, X-linked dominant [RCV001882637]|not provided [RCV001554983] |
ChrX:154360399 [GRCh38]
ChrX:153588767 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.2822A>G (p.Gln941Arg) |
single nucleotide variant |
not provided [RCV001583534] |
ChrX:154361983 [GRCh38]
ChrX:153590351 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.*117C>T |
single nucleotide variant |
not provided [RCV001648089] |
ChrX:154348732 [GRCh38]
ChrX:153577100 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.587G>A (p.Arg196Gln) |
single nucleotide variant |
FLNA-related disorder [RCV004528516]|Heterotopia, periventricular, X-linked dominant [RCV001859392]|not provided [RCV001560948] |
ChrX:154367877 [GRCh38]
ChrX:153596245 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.973G>A (p.Gly325Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001866012]|not provided [RCV001568864] |
ChrX:154366746 [GRCh38]
ChrX:153595114 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.1371C>G (p.His457Gln) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002300555]|not provided [RCV001576834] |
ChrX:154366082 [GRCh38]
ChrX:153594450 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7334-5C>T |
single nucleotide variant |
FLNA-related disorder [RCV004542044]|Familial thoracic aortic aneurysm and aortic dissection [RCV002386489]|Heterotopia, periventricular, X-linked dominant [RCV002070480]|not provided [RCV001613652] |
ChrX:154349872 [GRCh38]
ChrX:153578240 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7436G>T (p.Cys2479Phe) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002032677]|not provided [RCV001723427] |
ChrX:154349765 [GRCh38]
ChrX:153578133 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2361C>T (p.His787=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003771869]|not provided [RCV001723433] |
ChrX:154362704 [GRCh38]
ChrX:153591072 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4084G>A (p.Gly1362Arg) |
single nucleotide variant |
FLNA-related disorder [RCV004542000]|Heterotopia, periventricular, X-linked dominant [RCV001859370]|not provided [RCV001550988] |
ChrX:154359542 [GRCh38]
ChrX:153587910 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1430-223= |
single nucleotide variant |
not provided [RCV001717469] |
ChrX:154365709 [GRCh38]
ChrX:153594077 [GRCh37]
ChrX:Xq28 |
benign |
| GRCh37/hg19 Xq28(chrX:153263517-155260560)x2 |
copy number gain |
Intellectual disability [RCV001638056] |
ChrX:153263517..155260560 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.7024-85G>A |
single nucleotide variant |
not provided [RCV001557074] |
ChrX:154351126 [GRCh38]
ChrX:153579494 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3207+112del |
deletion |
not provided [RCV001656187] |
ChrX:154361196 [GRCh38]
ChrX:153589564 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.6019G>A (p.Val2007Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002359171]|Heterotopia, periventricular, X-linked dominant [RCV002032624]|not provided [RCV001557645] |
ChrX:154353299 [GRCh38]
ChrX:153581667 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.5281T>C (p.Tyr1761His) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001866123]|not provided [RCV001589592] |
ChrX:154354648 [GRCh38]
ChrX:153583016 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.7180C>T (p.Pro2394Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001866032]|not provided [RCV001571598] |
ChrX:154350184 [GRCh38]
ChrX:153578552 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6152G>A (p.Arg2051Gln) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004616754]|Heterotopia, periventricular, X-linked dominant [RCV001859373]|not provided [RCV001552071] |
ChrX:154353075 [GRCh38]
ChrX:153581443 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.1328G>A (p.Arg443His) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002072930]|not provided [RCV001620515] |
ChrX:154366125 [GRCh38]
ChrX:153594493 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.*256C>G |
single nucleotide variant |
not provided [RCV001552352] |
ChrX:154348593 [GRCh38]
ChrX:153576961 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.969G>A (p.Pro323=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002065902] |
ChrX:154366750 [GRCh38]
ChrX:153595118 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.6096C>T (p.Ser2032=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002064599] |
ChrX:154353131 [GRCh38]
ChrX:153581499 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1167C>T (p.Pro389=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002332808]|Heterotopia, periventricular, X-linked dominant [RCV001497895]|not provided [RCV000868918]|not specified [RCV004782584] |
ChrX:154366369 [GRCh38]
ChrX:153594737 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4236C>T (p.Val1412=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004029562]|Heterotopia, periventricular, X-linked dominant [RCV000930311] |
ChrX:154359313 [GRCh38]
ChrX:153587681 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2280+10C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002065919] |
ChrX:154364012 [GRCh38]
ChrX:153592380 [GRCh37]
ChrX:Xq28 |
likely benign |
| GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 |
copy number loss |
Premature ovarian insufficiency [RCV000852349] |
ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.141C>T (p.Asn47=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000862164] |
ChrX:154371105 [GRCh38]
ChrX:153599473 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6303G>A (p.Thr2101=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002363471]|Heterotopia, periventricular, X-linked dominant [RCV001510355]|not provided [RCV003438622] |
ChrX:154352848 [GRCh38]
ChrX:153581216 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.5613T>C (p.Tyr1871=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001481428] |
ChrX:154353988 [GRCh38]
ChrX:153582356 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.318C>T (p.Asn106=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001481932] |
ChrX:154370928 [GRCh38]
ChrX:153599296 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1008C>T (p.Asn336=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002453992]|Heterotopia, periventricular, X-linked dominant [RCV001410783]|not provided [RCV004721663] |
ChrX:154366619 [GRCh38]
ChrX:153594987 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2945-10G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001439018] |
ChrX:154361580 [GRCh38]
ChrX:153589948 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2064C>T (p.Ala688=) |
single nucleotide variant |
FLNA-related disorder [RCV004533539]|Familial thoracic aortic aneurysm and aortic dissection [RCV002416140]|Heterotopia, periventricular, X-linked dominant [RCV001417949]|not provided [RCV000920179] |
ChrX:154364331 [GRCh38]
ChrX:153592699 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7824C>T (p.His2608=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004027865]|Heterotopia, periventricular, X-linked dominant [RCV001481802]|not provided [RCV000875528] |
ChrX:154348969 [GRCh38]
ChrX:153577337 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5817T>C (p.Asn1939=) |
single nucleotide variant |
FLNA-related disorder [RCV004533478]|not provided [RCV000908791] |
ChrX:154353597 [GRCh38]
ChrX:153581965 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6289C>A (p.Leu2097Met) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003768799] |
ChrX:154352862 [GRCh38]
ChrX:153581230 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3657T>C (p.Ile1219=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002544409] |
ChrX:154360138 [GRCh38]
ChrX:153588506 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7152C>T (p.Asp2384=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000981596] |
ChrX:154350913 [GRCh38]
ChrX:153579281 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3834C>T (p.Phe1278=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003768872] |
ChrX:154359877 [GRCh38]
ChrX:153588245 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4899C>T (p.Arg1633=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003169117]|Heterotopia, periventricular, X-linked dominant [RCV000865300]|not provided [RCV001533923]|not specified [RCV001816970] |
ChrX:154357480 [GRCh38]
ChrX:153585848 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.3695C>T (p.Thr1232Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000865430]|not provided [RCV001539581]|not specified [RCV003396504] |
ChrX:154360100 [GRCh38]
ChrX:153588468 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.6117C>A (p.Ile2039=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002542260] |
ChrX:154353110 [GRCh38]
ChrX:153581478 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.72G>A (p.Arg24=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002382091]|Heterotopia, periventricular, X-linked dominant [RCV001395376] |
ChrX:154371174 [GRCh38]
ChrX:153599542 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4023C>T (p.Pro1341=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000983164] |
ChrX:154359603 [GRCh38]
ChrX:153587971 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.988-10C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV000922088] |
ChrX:154366649 [GRCh38]
ChrX:153595017 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7564G>A (p.Val2522Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001403633]|not provided [RCV003884760] |
ChrX:154349554 [GRCh38]
ChrX:153577922 [GRCh37]
ChrX:Xq28 |
likely benign|conflicting interpretations of pathogenicity |
| NM_001110556.2(FLNA):c.6273C>T (p.Asp2091=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002363291]|Heterotopia, periventricular, X-linked dominant [RCV000874278]|not provided [RCV001558555] |
ChrX:154352878 [GRCh38]
ChrX:153581246 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.695C>T (p.Ala232Val) |
single nucleotide variant |
FLNA-related otopalatodigital spectrum disorders [RCV001249713] |
ChrX:154367666 [GRCh38]
ChrX:153596034 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4154C>T (p.Thr1385Met) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001237129] |
ChrX:154359395 [GRCh38]
ChrX:153587763 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 |
copy number loss |
not provided [RCV001007318] |
ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28 |
pathogenic |
| NM_001110556.2(FLNA):c.2650C>T (p.Arg884Cys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004822286]|Heterotopia, periventricular, X-linked dominant [RCV001036049]|not provided [RCV004590034] |
ChrX:154362248 [GRCh38]
ChrX:153590616 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.6409G>A (p.Glu2137Lys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001243216]|not provided [RCV003442806] |
ChrX:154352646 [GRCh38]
ChrX:153581014 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.6862C>T (p.Arg2288Cys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001069886] |
ChrX:154351929 [GRCh38]
ChrX:153580297 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.2451C>T (p.Pro817=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002445065]|Heterotopia, periventricular, X-linked dominant [RCV001512917] |
ChrX:154362532 [GRCh38]
ChrX:153590900 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.4353C>G (p.Val1451=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001411355] |
ChrX:154359105 [GRCh38]
ChrX:153587473 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3378C>T (p.Tyr1126=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002454132]|Heterotopia, periventricular, X-linked dominant [RCV000935682] |
ChrX:154360417 [GRCh38]
ChrX:153588785 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6918A>G (p.Glu2306=) |
single nucleotide variant |
not provided [RCV000935909] |
ChrX:154351686 [GRCh38]
ChrX:153580054 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.69G>A (p.Thr23=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002363333]|Heterotopia, periventricular, X-linked dominant [RCV001459087] |
ChrX:154371177 [GRCh38]
ChrX:153599545 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.60C>T (p.Gly20=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002354748]|Heterotopia, periventricular, X-linked dominant [RCV000913581] |
ChrX:154371186 [GRCh38]
ChrX:153599554 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6502+10G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001392716] |
ChrX:154352543 [GRCh38]
ChrX:153580911 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6863G>C (p.Arg2288Pro) |
single nucleotide variant |
not provided [RCV004812974] |
ChrX:154351928 [GRCh38]
ChrX:153580296 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4273A>G (p.Asn1425Asp) |
single nucleotide variant |
not provided [RCV004814744] |
ChrX:154359276 [GRCh38]
ChrX:153587644 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1222A>G (p.Thr408Ala) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001503759] |
ChrX:154366314 [GRCh38]
ChrX:153594682 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4692G>C (p.Leu1564=) |
single nucleotide variant |
not provided [RCV000912164] |
ChrX:154358262 [GRCh38]
ChrX:153586630 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5753G>A (p.Gly1918Glu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002343738]|Heterotopia, periventricular, X-linked dominant [RCV003771717]|not provided [RCV001561755] |
ChrX:154353661 [GRCh38]
ChrX:153582029 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.7128G>A (p.Glu2376=) |
single nucleotide variant |
not provided [RCV001718497] |
ChrX:154350937 [GRCh38]
ChrX:153579305 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5152G>A (p.Gly1718Ser) |
single nucleotide variant |
not provided [RCV001579704] |
ChrX:154354890 [GRCh38]
ChrX:153583258 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4981G>A (p.Gly1661Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002568370]|not provided [RCV001557382] |
ChrX:154355061 [GRCh38]
ChrX:153583429 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.2800A>G (p.Thr934Ala) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002571379]|not provided [RCV002464944] |
ChrX:154362005 [GRCh38]
ChrX:153590373 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.3605G>A (p.Gly1202Glu) |
single nucleotide variant |
not provided [RCV003327871] |
ChrX:154360190 [GRCh38]
ChrX:153588558 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5937T>A (p.Asp1979Glu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003777372]|not provided [RCV003327883] |
ChrX:154353381 [GRCh38]
ChrX:153581749 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5313+5G>A |
single nucleotide variant |
FLNA-related disorder [RCV004728771]|not provided [RCV001558499] |
ChrX:154354611 [GRCh38]
ChrX:153582979 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3208-12T>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003771739]|not provided [RCV001570658] |
ChrX:154360599 [GRCh38]
ChrX:153588967 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4786A>G (p.Ile1596Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003771706]|not provided [RCV001558278] |
ChrX:154357593 [GRCh38]
ChrX:153585961 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.6994G>A (p.Ala2332Thr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002568376]|not provided [RCV001558286] |
ChrX:154351610 [GRCh38]
ChrX:153579978 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1503T>C (p.Ala501=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004616757]|Heterotopia, periventricular, X-linked dominant [RCV002072262]|not provided [RCV001575993] |
ChrX:154365413 [GRCh38]
ChrX:153593781 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7093G>A (p.Asp2365Asn) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002032551]|not provided [RCV001544947] |
ChrX:154350972 [GRCh38]
ChrX:153579340 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2648G>A (p.Ser883Asn) |
single nucleotide variant |
not provided [RCV002469736] |
ChrX:154362250 [GRCh38]
ChrX:153590618 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4875C>T (p.Asp1625=) |
single nucleotide variant |
FLNA-related disorder [RCV004542023]|Familial thoracic aortic aneurysm and aortic dissection [RCV002334617]|Heterotopia, periventricular, X-linked dominant [RCV002072263]|not provided [RCV001576390] |
ChrX:154357504 [GRCh38]
ChrX:153585872 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3681G>A (p.Gly1227=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004039278]|Heterotopia, periventricular, X-linked dominant [RCV002072008]|not provided [RCV001547157]|not specified [RCV003331183] |
ChrX:154360114 [GRCh38]
ChrX:153588482 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3934C>G (p.Arg1312Gly) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004298797] |
ChrX:154359777 [GRCh38]
ChrX:153588145 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7403G>A (p.Gly2468Asp) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002471794] |
ChrX:154349798 [GRCh38]
ChrX:153578166 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| GRCh37/hg19 Xq28(chrX:153421785-153624604)x2 |
copy number gain |
not provided [RCV002473899] |
ChrX:153421785..153624604 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4682C>T (p.Pro1561Leu) |
single nucleotide variant |
not provided [RCV004814697] |
ChrX:154358272 [GRCh38]
ChrX:153586640 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6149T>C (p.Val2050Ala) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001866235]|not provided [RCV001592547] |
ChrX:154353078 [GRCh38]
ChrX:153581446 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4659del (p.Leu1555fs) |
deletion |
not provided [RCV001008994] |
ChrX:154358295 [GRCh38]
ChrX:153586663 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.5159dup (p.Tyr1720Ter) |
duplication |
not provided [RCV001579368] |
ChrX:154354882..154354883 [GRCh38]
ChrX:153583250..153583251 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.5934G>A (p.Thr1978=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002359191]|Heterotopia, periventricular, X-linked dominant [RCV002072295]|not provided [RCV001579992] |
ChrX:154353384 [GRCh38]
ChrX:153581752 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3207+95dup |
duplication |
not provided [RCV001594614] |
ChrX:154361195..154361196 [GRCh38]
ChrX:153589563..153589564 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.257AGA[2] (p.Lys88del) |
microsatellite |
not provided [RCV001658848] |
ChrX:154370981..154370983 [GRCh38]
ChrX:153599349..153599351 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.4970G>A (p.Gly1657Asp) |
single nucleotide variant |
not provided [RCV001658855] |
ChrX:154355072 [GRCh38]
ChrX:153583440 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.*84_*85insTG |
insertion |
not provided [RCV001654324] |
ChrX:154348764..154348765 [GRCh38]
ChrX:153577132..153577133 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.5447C>T (p.Ala1816Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001866236]|not provided [RCV001592602]|not specified [RCV003331190] |
ChrX:154354261 [GRCh38]
ChrX:153582629 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.6008G>A (p.Arg2003His) |
single nucleotide variant |
Intellectual disability [RCV001252500] |
ChrX:154353310 [GRCh38]
ChrX:153581678 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5054C>G (p.Thr1685Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001217844] |
ChrX:154354988 [GRCh38]
ChrX:153583356 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2659G>A (p.Val887Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001049987]|not provided [RCV004777945] |
ChrX:154362146 [GRCh38]
ChrX:153590514 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5417-8C>T |
single nucleotide variant |
not provided [RCV001813116] |
ChrX:154354299 [GRCh38]
ChrX:153582667 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1633A>G (p.Met545Val) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV005047247]|Heterotopia, periventricular, X-linked dominant [RCV001050757] |
ChrX:154365194 [GRCh38]
ChrX:153593562 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.806T>A (p.Leu269Gln) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001221637]|not provided [RCV001732079]|not specified [RCV003490132] |
ChrX:154367459 [GRCh38]
ChrX:153595827 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.2181C>T (p.Gly727=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001223347] |
ChrX:154364121 [GRCh38]
ChrX:153592489 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.7024G>A (p.Glu2342Lys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001225135] |
ChrX:154351041 [GRCh38]
ChrX:153579409 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7361C>T (p.Thr2454Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004032537]|Heterotopia, periventricular, X-linked dominant [RCV001225484]|not specified [RCV004782675] |
ChrX:154349840 [GRCh38]
ChrX:153578208 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.2281-282A>G |
single nucleotide variant |
not provided [RCV001587821] |
ChrX:154363066 [GRCh38]
ChrX:153591434 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4598+38A>G |
single nucleotide variant |
not provided [RCV001533822] |
ChrX:154358407 [GRCh38]
ChrX:153586775 [GRCh37]
ChrX:Xq28 |
benign |
| GRCh37/hg19 Xq28(chrX:153194251-153623000)x2 |
copy number gain |
Intellectual disability [RCV001638055] |
ChrX:153194251..153623000 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.6502+1G>T |
single nucleotide variant |
Attenuated frontometaphyseal dysplasia [RCV001638058] |
ChrX:154352552 [GRCh38]
ChrX:153580920 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.868+221C>T |
single nucleotide variant |
not provided [RCV001648166] |
ChrX:154367176 [GRCh38]
ChrX:153595544 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.2527dup (p.Ala843fs) |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV001594420] |
ChrX:154362455..154362456 [GRCh38]
ChrX:153590823..153590824 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.4946-53C>T |
single nucleotide variant |
not provided [RCV001713944] |
ChrX:154357327 [GRCh38]
ChrX:153585695 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.*84A>C |
single nucleotide variant |
not provided [RCV001668975] |
ChrX:154348765 [GRCh38]
ChrX:153577133 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.133CAG[1] (p.Gln46del) |
microsatellite |
not provided [RCV001540763] |
ChrX:154371108..154371110 [GRCh38]
ChrX:153599476..153599478 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5217+5G>C |
single nucleotide variant |
not provided [RCV001528884] |
ChrX:154354820 [GRCh38]
ChrX:153583188 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7768CTG[1] (p.Leu2591del) |
microsatellite |
Heterotopia, periventricular, X-linked dominant [RCV001059893] |
ChrX:154349020..154349022 [GRCh38]
ChrX:153577388..153577390 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.5876G>A (p.Arg1959His) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001229938]|not provided [RCV003145437] |
ChrX:154353442 [GRCh38]
ChrX:153581810 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.6079G>A (p.Gly2027Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001236986] |
ChrX:154353148 [GRCh38]
ChrX:153581516 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4265A>G (p.Tyr1422Cys) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV001198414]|not provided [RCV003222252] |
ChrX:154359284 [GRCh38]
ChrX:153587652 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4824C>A (p.Tyr1608Ter) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001232709] |
ChrX:154357555 [GRCh38]
ChrX:153585923 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.7001G>T (p.Arg2334Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001233263] |
ChrX:154351603 [GRCh38]
ChrX:153579971 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6586del (p.His2196fs) |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV001238854] |
ChrX:154352364 [GRCh38]
ChrX:153580732 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.5921A>G (p.Asn1974Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001060825] |
ChrX:154353397 [GRCh38]
ChrX:153581765 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1386C>T (p.Gly462=) |
single nucleotide variant |
FLNA-related disorder [RCV004734063]|Heterotopia, periventricular, X-linked dominant [RCV001235256]|not provided [RCV001732085]|not specified [RCV004690025] |
ChrX:154366067 [GRCh38]
ChrX:153594435 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.2858G>A (p.Gly953Glu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001042681] |
ChrX:154361756 [GRCh38]
ChrX:153590124 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.7714G>A (p.Val2572Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001057095]|not provided [RCV001566285] |
ChrX:154349404 [GRCh38]
ChrX:153577772 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.4303+7_4303+9del |
microsatellite |
Heterotopia, periventricular, X-linked dominant [RCV001038922] |
ChrX:154359237..154359239 [GRCh38]
ChrX:153587605..153587607 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.3742C>T (p.Gln1248Ter) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001211252] |
ChrX:154360053 [GRCh38]
ChrX:153588421 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.1609G>C (p.Val537Leu) |
single nucleotide variant |
FLNA-related disorder [RCV004538440]|Familial thoracic aortic aneurysm and aortic dissection [RCV002393451]|Heterotopia, periventricular, X-linked dominant [RCV001202197] |
ChrX:154365218 [GRCh38]
ChrX:153593586 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3947T>C (p.Met1316Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002375129]|Heterotopia, periventricular, X-linked dominant [RCV001202529] |
ChrX:154359764 [GRCh38]
ChrX:153588132 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.95A>G (p.Glu32Gly) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001203099] |
ChrX:154371151 [GRCh38]
ChrX:153599519 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2825A>T (p.Gln942Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001203483] |
ChrX:154361980 [GRCh38]
ChrX:153590348 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NC_000023.10:g.(?_152990712)_(153650075_?)dup |
duplication |
X-linked Emery-Dreifuss muscular dystrophy [RCV001031812] |
ChrX:152990712..153650075 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5318C>T (p.Pro1773Leu) |
single nucleotide variant |
FLNA-related disorder [RCV004536069]|Heterotopia, periventricular, X-linked dominant [RCV001037769]|not provided [RCV001585937] |
ChrX:154354479 [GRCh38]
ChrX:153582847 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.4711G>A (p.Asp1571Asn) |
single nucleotide variant |
FLNA-related disorder [RCV004528438]|Familial thoracic aortic aneurysm and aortic dissection [RCV004822339]|Heterotopia, periventricular, X-linked dominant [RCV001247915]|not provided [RCV001566470] |
ChrX:154358243 [GRCh38]
ChrX:153586611 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.1376C>A (p.Thr459Lys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001205842] |
ChrX:154366077 [GRCh38]
ChrX:153594445 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3299T>G (p.Leu1100Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001205010] |
ChrX:154360496 [GRCh38]
ChrX:153588864 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2389G>T (p.Ala797Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001219798] |
ChrX:154362676 [GRCh38]
ChrX:153591044 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2003A>G (p.Gln668Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001226918] |
ChrX:154364545 [GRCh38]
ChrX:153592913 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6506T>C (p.Ile2169Thr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001227682] |
ChrX:154352444 [GRCh38]
ChrX:153580812 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.5407G>A (p.Glu1803Lys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001206547]|Macrothrombocytopenia [RCV001729813] |
ChrX:154354390 [GRCh38]
ChrX:153582758 [GRCh37]
ChrX:Xq28 |
pathogenic|likely benign|uncertain significance|not provided |
| NM_001110556.2(FLNA):c.1924G>T (p.Glu642Ter) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV001197823]|Heterotopia, periventricular, X-linked dominant [RCV001332002] |
ChrX:154364624 [GRCh38]
ChrX:153592992 [GRCh37]
ChrX:Xq28 |
pathogenic|likely pathogenic |
| NM_001110556.2(FLNA):c.1376C>T (p.Thr459Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002379498]|Heterotopia, periventricular, X-linked dominant [RCV001039819]|not provided [RCV001564098] |
ChrX:154366077 [GRCh38]
ChrX:153594445 [GRCh37]
ChrX:Xq28 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001110556.2(FLNA):c.7023+7C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001064616] |
ChrX:154351574 [GRCh38]
ChrX:153579942 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7862A>G (p.Lys2621Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001238709] |
ChrX:154348931 [GRCh38]
ChrX:153577299 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.7656T>A (p.Pro2552=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002393248]|Heterotopia, periventricular, X-linked dominant [RCV001050667] |
ChrX:154349462 [GRCh38]
ChrX:153577830 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.1609G>A (p.Val537Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002400288]|Heterotopia, periventricular, X-linked dominant [RCV001050668] |
ChrX:154365218 [GRCh38]
ChrX:153593586 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.5416+6T>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001204047] |
ChrX:154354375 [GRCh38]
ChrX:153582743 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| GRCh37/hg19 Xq25-28(chrX:122132166-155097214) |
copy number loss |
Intellectual disability [RCV001249592] |
ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.4916C>T (p.Thr1639Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001041639] |
ChrX:154357463 [GRCh38]
ChrX:153585831 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2981A>G (p.Lys994Arg) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV002484125]|Heterotopia, periventricular, X-linked dominant [RCV001208356] |
ChrX:154361534 [GRCh38]
ChrX:153589902 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.620C>A (p.Pro207Gln) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001209765] |
ChrX:154367844 [GRCh38]
ChrX:153596212 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4503C>T (p.Asp1501=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004822283]|Heterotopia, periventricular, X-linked dominant [RCV002068759]|not provided [RCV001836929]|not specified [RCV001000791] |
ChrX:154358540 [GRCh38]
ChrX:153586908 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.132C>G (p.Ile44Met) |
single nucleotide variant |
not provided [RCV001091832] |
ChrX:154371114 [GRCh38]
ChrX:153599482 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1932_1938del (p.Val645fs) |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV001210380] |
ChrX:154364610..154364616 [GRCh38]
ChrX:153592978..153592984 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.3767C>A (p.Ser1256Tyr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001041982] |
ChrX:154360028 [GRCh38]
ChrX:153588396 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5161G>A (p.Val1721Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001229942] |
ChrX:154354881 [GRCh38]
ChrX:153583249 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.2473G>A (p.Asp825Asn) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001063341] |
ChrX:154362510 [GRCh38]
ChrX:153590878 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.4595G>A (p.Arg1532Gln) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001219915]|not provided [RCV001813815]|not specified [RCV004768928] |
ChrX:154358448 [GRCh38]
ChrX:153586816 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.108GGA[1] (p.Glu37del) |
microsatellite |
Heterotopia, periventricular, X-linked dominant [RCV001053273] |
ChrX:154371133..154371135 [GRCh38]
ChrX:153599501..153599503 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.138_139dup (p.Asn47fs) |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV001253547] |
ChrX:154371106..154371107 [GRCh38]
ChrX:153599474..153599475 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.623-8C>A |
single nucleotide variant |
Melnick-Needles syndrome [RCV001262009] |
ChrX:154367746 [GRCh38]
ChrX:153596114 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 |
copy number gain |
See cases [RCV001263024] |
ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28 |
pathogenic |
| NM_001110556.2(FLNA):c.6379+5G>A |
single nucleotide variant |
Inborn genetic diseases [RCV001266732] |
ChrX:154352767 [GRCh38]
ChrX:153581135 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2869C>T (p.Pro957Ser) |
single nucleotide variant |
not provided [RCV001581233] |
ChrX:154361745 [GRCh38]
ChrX:153590113 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 |
copy number loss |
not provided [RCV001259012] |
ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28 |
pathogenic |
| NM_001110556.2(FLNA):c.4588G>A (p.Val1530Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001302772] |
ChrX:154358455 [GRCh38]
ChrX:153586823 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1684G>C (p.Gly562Arg) |
single nucleotide variant |
FG syndrome 2 [RCV001255750] |
ChrX:154365143 [GRCh38]
ChrX:153593511 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5139G>A (p.Thr1713=) |
single nucleotide variant |
FLNA-related disorder [RCV004545189]|Heterotopia, periventricular, X-linked dominant [RCV001295111] |
ChrX:154354903 [GRCh38]
ChrX:153583271 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.3023T>C (p.Ile1008Thr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003770368]|Melnick-Needles syndrome [RCV001262956]|not provided [RCV001751529] |
ChrX:154361492 [GRCh38]
ChrX:153589860 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.2545A>G (p.Met849Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002569059]|not provided [RCV001572394] |
ChrX:154362438 [GRCh38]
ChrX:153590806 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3501C>G (p.Gly1167=) |
single nucleotide variant |
not specified [RCV004783516] |
ChrX:154360294 [GRCh38]
ChrX:153588662 [GRCh37]
ChrX:Xq28 |
likely benign |
| GRCh37/hg19 Xq28(chrX:152815772-153624215) |
copy number gain |
Global developmental delay [RCV002280663] |
ChrX:152815772..153624215 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.1355G>A (p.Gly452Asp) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003770394]|Inborn genetic diseases [RCV001267066]|not provided [RCV003166593] |
ChrX:154366098 [GRCh38]
ChrX:153594466 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5476G>A (p.Gly1826Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003770351]|Intellectual disability [RCV001260709]|not provided [RCV001558240] |
ChrX:154354232 [GRCh38]
ChrX:153582600 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 |
copy number loss |
not provided [RCV001537933] |
ChrX:60000..155234966 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 |
copy number gain |
Klinefelter syndrome [RCV002282732] |
ChrX:61545..155226048 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_001110556.2(FLNA):c.4245C>A (p.Ile1415=) |
single nucleotide variant |
FLNA-related disorder [RCV004538541]|Familial thoracic aortic aneurysm and aortic dissection [RCV002327609]|Heterotopia, periventricular, X-linked dominant [RCV001456809] |
ChrX:154359304 [GRCh38]
ChrX:153587672 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.720+5A>T |
single nucleotide variant |
FLNA-related disorder [RCV004531087]|Heterotopia, periventricular, X-linked dominant [RCV001303285]|not provided [RCV004793399] |
ChrX:154367636 [GRCh38]
ChrX:153596004 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.2405-17_2405-3del |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV001348504] |
ChrX:154362581..154362595 [GRCh38]
ChrX:153590949..153590963 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6142A>C (p.Ser2048Arg) |
single nucleotide variant |
FLNA-related disorder [RCV004734138]|Heterotopia, periventricular, X-linked dominant [RCV001348505] |
ChrX:154353085 [GRCh38]
ChrX:153581453 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6250dup (p.Ile2084fs) |
duplication |
not provided [RCV001268776] |
ChrX:154352900..154352901 [GRCh38]
ChrX:153581268..153581269 [GRCh37]
ChrX:Xq28 |
pathogenic |
| GRCh37/hg19 Xq28(chrX:153113943-153624215)x2 |
copy number gain |
not provided [RCV001260058] |
ChrX:153113943..153624215 [GRCh37]
ChrX:Xq28 |
pathogenic |
| GRCh37/hg19 Xq28(chrX:153135257-153594096)x3 |
copy number gain |
not provided [RCV001260059] |
ChrX:153135257..153594096 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.7000C>T (p.Arg2334Cys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002541802]|not provided [RCV001810698] |
ChrX:154351604 [GRCh38]
ChrX:153579972 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731) |
copy number loss |
Turner syndrome [RCV002280672] |
ChrX:62685885..155233731 [GRCh37]
ChrX:Xq11.1-28 |
pathogenic |
| GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 |
copy number gain |
not provided [RCV001281359] |
ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28 |
pathogenic |
| NM_001110556.2(FLNA):c.5533C>T (p.Arg1845Cys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003770388]|Inborn genetic diseases [RCV001266376] |
ChrX:154354175 [GRCh38]
ChrX:153582543 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.1742C>T (p.Ala581Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001908124] |
ChrX:154364907 [GRCh38]
ChrX:153593275 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3495del (p.Ser1166fs) |
deletion |
FG syndrome 2 [RCV001255837] |
ChrX:154360300 [GRCh38]
ChrX:153588668 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.6904C>T (p.Pro2302Ser) |
single nucleotide variant |
Melnick-Needles syndrome [RCV001262957]|not provided [RCV001587302] |
ChrX:154351887 [GRCh38]
ChrX:153580255 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3844G>A (p.Ala1282Thr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001297289] |
ChrX:154359867 [GRCh38]
ChrX:153588235 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3886C>T (p.Arg1296Cys) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV001336375]|Familial thoracic aortic aneurysm and aortic dissection [RCV002368114]|Heterotopia, periventricular, X-linked dominant [RCV001871884] |
ChrX:154359825 [GRCh38]
ChrX:153588193 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.5054C>T (p.Thr1685Met) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001307499]|not provided [RCV002543197] |
ChrX:154354988 [GRCh38]
ChrX:153583356 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.5557+19T>G |
single nucleotide variant |
not provided [RCV001810572] |
ChrX:154354132 [GRCh38]
ChrX:153582500 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7928G>A (p.Arg2643His) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001320127] |
ChrX:154348865 [GRCh38]
ChrX:153577233 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.3139T>C (p.Tyr1047His) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001342233] |
ChrX:154361376 [GRCh38]
ChrX:153589744 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.19C>G (p.Arg7Gly) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004036185]|Heterotopia, periventricular, X-linked dominant [RCV001300917] |
ChrX:154371227 [GRCh38]
ChrX:153599595 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.7526G>A (p.Gly2509Asp) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001295756] |
ChrX:154349675 [GRCh38]
ChrX:153578043 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.4152C>T (p.Gly1384=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003294352]|Heterotopia, periventricular, X-linked dominant [RCV001342636]|not provided [RCV001673047] |
ChrX:154359397 [GRCh38]
ChrX:153587765 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.5134T>C (p.Tyr1712His) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001307370]|not provided [RCV003442836] |
ChrX:154354908 [GRCh38]
ChrX:153583276 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3743A>G (p.Gln1248Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001320716] |
ChrX:154360052 [GRCh38]
ChrX:153588420 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5537A>G (p.Tyr1846Cys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001299610]|not provided [RCV004789519] |
ChrX:154354171 [GRCh38]
ChrX:153582539 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.4388T>C (p.Val1463Ala) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001299695] |
ChrX:154359070 [GRCh38]
ChrX:153587438 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5416+5G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001306391] |
ChrX:154354376 [GRCh38]
ChrX:153582744 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4243A>G (p.Ile1415Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001298330]|not provided [RCV001810722] |
ChrX:154359306 [GRCh38]
ChrX:153587674 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7165G>A (p.Ala2389Thr) |
single nucleotide variant |
FLNA-related disorder [RCV004545889]|Heterotopia, periventricular, X-linked dominant [RCV001303703] |
ChrX:154350199 [GRCh38]
ChrX:153578567 [GRCh37]
ChrX:Xq28 |
uncertain significance|not provided |
| NM_001110556.2(FLNA):c.4243A>C (p.Ile1415Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002329276]|Heterotopia, periventricular, X-linked dominant [RCV001318117]|Heterotopia, periventricular, X-linked dominant [RCV001836985]|not provided [RCV001760390] |
ChrX:154359306 [GRCh38]
ChrX:153587674 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1664C>T (p.Thr555Met) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001343641] |
ChrX:154365163 [GRCh38]
ChrX:153593531 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.4260C>T (p.Gly1420=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001321794] |
ChrX:154359289 [GRCh38]
ChrX:153587657 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.3893C>T (p.Ala1298Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001305096] |
ChrX:154359818 [GRCh38]
ChrX:153588186 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.623-10T>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001303974] |
ChrX:154367748 [GRCh38]
ChrX:153596116 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2735C>T (p.Ser912Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001349995]|not provided [RCV003145603] |
ChrX:154362070 [GRCh38]
ChrX:153590438 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.4589T>G (p.Val1530Gly) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001337802] |
ChrX:154358454 [GRCh38]
ChrX:153586822 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5866G>A (p.Asp1956Asn) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001300840]|not provided [RCV002511074] |
ChrX:154353452 [GRCh38]
ChrX:153581820 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.2659G>T (p.Val887Phe) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001363113] |
ChrX:154362146 [GRCh38]
ChrX:153590514 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.988-6C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001414329]|not provided [RCV001732180] |
ChrX:154366645 [GRCh38]
ChrX:153595013 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3643G>A (p.Gly1215Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002350656]|Heterotopia, periventricular, X-linked dominant [RCV001350272] |
ChrX:154360152 [GRCh38]
ChrX:153588520 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.5073T>C (p.Pro1691=) |
single nucleotide variant |
FLNA-related disorder [RCV004540279]|Familial thoracic aortic aneurysm and aortic dissection [RCV004822387]|Heterotopia, periventricular, X-linked dominant [RCV001412554] |
ChrX:154354969 [GRCh38]
ChrX:153583337 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2947dup (p.Val983fs) |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV001382474] |
ChrX:154361567..154361568 [GRCh38]
ChrX:153589935..153589936 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.5021T>C (p.Val1674Ala) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV001336376] |
ChrX:154355021 [GRCh38]
ChrX:153583389 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1555G>A (p.Val519Met) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001358811]|not provided [RCV003738053] |
ChrX:154365361 [GRCh38]
ChrX:153593729 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.5860+3G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001358826] |
ChrX:154353551 [GRCh38]
ChrX:153581919 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5621G>C (p.Gly1874Ala) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001270409] |
ChrX:154353980 [GRCh38]
ChrX:153582348 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5217+9G>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001396705] |
ChrX:154354816 [GRCh38]
ChrX:153583184 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5281T>A (p.Tyr1761Asn) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001368334] |
ChrX:154354648 [GRCh38]
ChrX:153583016 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1616G>C (p.Gly539Ala) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001359306] |
ChrX:154365211 [GRCh38]
ChrX:153593579 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5492G>A (p.Arg1831Gln) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002350709]|Heterotopia, periventricular, X-linked dominant [RCV001369194]|not provided [RCV004720876] |
ChrX:154354216 [GRCh38]
ChrX:153582584 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.2724C>T (p.Asp908=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002432092]|Heterotopia, periventricular, X-linked dominant [RCV001395676]|not provided [RCV003438757]|not specified [RCV003490241] |
ChrX:154362081 [GRCh38]
ChrX:153590449 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7452C>T (p.Arg2484=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002384569]|Heterotopia, periventricular, X-linked dominant [RCV001396549]|not provided [RCV001638084]|not specified [RCV003323876] |
ChrX:154349749 [GRCh38]
ChrX:153578117 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2325C>T (p.Tyr775=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002456622]|Heterotopia, periventricular, X-linked dominant [RCV001396591] |
ChrX:154362740 [GRCh38]
ChrX:153591108 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7108A>G (p.Ser2370Gly) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001359068] |
ChrX:154350957 [GRCh38]
ChrX:153579325 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.1995C>T (p.Asp665=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001397458]|not provided [RCV003438762] |
ChrX:154364553 [GRCh38]
ChrX:153592921 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1141G>A (p.Ala381Thr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001303263] |
ChrX:154366395 [GRCh38]
ChrX:153594763 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1621G>C (p.Glu541Gln) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001369712] |
ChrX:154365206 [GRCh38]
ChrX:153593574 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.936C>A (p.Gly312=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002071863]|not provided [RCV001310757] |
ChrX:154366783 [GRCh38]
ChrX:153595151 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.705G>A (p.Trp235Ter) |
single nucleotide variant |
not provided [RCV001310758] |
ChrX:154367656 [GRCh38]
ChrX:153596024 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.1104C>T (p.Ser368=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001433664] |
ChrX:154366432 [GRCh38]
ChrX:153594800 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3920C>T (p.Thr1307Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001359566] |
ChrX:154359791 [GRCh38]
ChrX:153588159 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.5162del (p.Val1721fs) |
deletion |
Oto-palato-digital syndrome, type I [RCV001333940] |
ChrX:154354880 [GRCh38]
ChrX:153583248 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.2943G>C (p.Glu981Asp) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001306275] |
ChrX:154361671 [GRCh38]
ChrX:153590039 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4276G>A (p.Val1426Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001360852] |
ChrX:154359273 [GRCh38]
ChrX:153587641 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.1224G>A (p.Thr408=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001360880] |
ChrX:154366312 [GRCh38]
ChrX:153594680 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.3547G>T (p.Val1183Leu) |
single nucleotide variant |
not provided [RCV001581411] |
ChrX:154360248 [GRCh38]
ChrX:153588616 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.477G>C (p.Glu159Asp) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV001535573]|Heterotopia, periventricular, X-linked dominant [RCV001324523] |
ChrX:154367987 [GRCh38]
ChrX:153596355 [GRCh37]
ChrX:Xq28 |
uncertain significance|not provided |
| NM_001110556.2(FLNA):c.4183C>T (p.Pro1395Ser) |
single nucleotide variant |
FLNA-related disorder [RCV004734113]|Familial thoracic aortic aneurysm and aortic dissection [RCV002327688]|Heterotopia, periventricular, X-linked dominant [RCV001309469]|not provided [RCV002253803]|not specified [RCV004782702] |
ChrX:154359366 [GRCh38]
ChrX:153587734 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4400T>G (p.Leu1467Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001322843] |
ChrX:154359058 [GRCh38]
ChrX:153587426 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2629G>C (p.Ala877Pro) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002438861]|Heterotopia, periventricular, X-linked dominant [RCV001369416]|not provided [RCV004794534] |
ChrX:154362269 [GRCh38]
ChrX:153590637 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.622+6G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001305424] |
ChrX:154367836 [GRCh38]
ChrX:153596204 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7451G>A (p.Arg2484His) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001345760]|not provided [RCV003120574] |
ChrX:154349750 [GRCh38]
ChrX:153578118 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.2219C>T (p.Pro740Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001309625]|not provided [RCV004590315] |
ChrX:154364083 [GRCh38]
ChrX:153592451 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.1009G>A (p.Asp337Asn) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001300143] |
ChrX:154366618 [GRCh38]
ChrX:153594986 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.7584C>T (p.His2528=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002393686]|Heterotopia, periventricular, X-linked dominant [RCV002069514]|not provided [RCV001812345] |
ChrX:154349534 [GRCh38]
ChrX:153577902 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2357C>G (p.Ala786Gly) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001312892]|not provided [RCV004770033] |
ChrX:154362708 [GRCh38]
ChrX:153591076 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.781C>G (p.Leu261Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001342256] |
ChrX:154367484 [GRCh38]
ChrX:153595852 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3034T>G (p.Ser1012Ala) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001296059]|not provided [RCV003148975] |
ChrX:154361481 [GRCh38]
ChrX:153589849 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6426G>C (p.Glu2142Asp) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001320309] |
ChrX:154352629 [GRCh38]
ChrX:153580997 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7183C>T (p.Arg2395Trp) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001313086]|not provided [RCV001773623] |
ChrX:154350181 [GRCh38]
ChrX:153578549 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.720+4C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001305674] |
ChrX:154367637 [GRCh38]
ChrX:153596005 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2392G>A (p.Glu798Lys) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV002476433]|Heterotopia, periventricular, X-linked dominant [RCV001309829]|not provided [RCV002282513] |
ChrX:154362673 [GRCh38]
ChrX:153591041 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.4076G>A (p.Arg1359His) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001320426]|not provided [RCV001570613] |
ChrX:154359550 [GRCh38]
ChrX:153587918 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.7448A>G (p.Tyr2483Cys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001346121] |
ChrX:154349753 [GRCh38]
ChrX:153578121 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1692-3C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001302080] |
ChrX:154364960 [GRCh38]
ChrX:153593328 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4855C>T (p.Leu1619Phe) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001361515] |
ChrX:154357524 [GRCh38]
ChrX:153585892 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2953G>A (p.Val985Ile) |
single nucleotide variant |
FLNA-related disorder [RCV004734129]|Heterotopia, periventricular, X-linked dominant [RCV001342752]|not provided [RCV001549671] |
ChrX:154361562 [GRCh38]
ChrX:153589930 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.2413A>G (p.Ser805Gly) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001347462] |
ChrX:154362570 [GRCh38]
ChrX:153590938 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5146C>G (p.Gln1716Glu) |
single nucleotide variant |
FLNA-related disorder [RCV004528475]|Familial thoracic aortic aneurysm and aortic dissection [RCV004822367]|Heterotopia, periventricular, X-linked dominant [RCV001347480]|not provided [RCV001587367] |
ChrX:154354896 [GRCh38]
ChrX:153583264 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.4475-15TGGGGC[3] |
microsatellite |
Heterotopia, periventricular, X-linked dominant [RCV001351396] |
ChrX:154358571..154358572 [GRCh38]
ChrX:153586939..153586940 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.2993C>T (p.Ala998Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001304176] |
ChrX:154361522 [GRCh38]
ChrX:153589890 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.182G>A (p.Ser61Asn) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001299481]|Heterotopia, periventricular, X-linked dominant [RCV003147607] |
ChrX:154371064 [GRCh38]
ChrX:153599432 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1430-3C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001343026] |
ChrX:154365489 [GRCh38]
ChrX:153593857 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4016C>T (p.Pro1339Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001323499] |
ChrX:154359610 [GRCh38]
ChrX:153587978 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2057G>A (p.Gly686Asp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002419026]|Heterotopia, periventricular, X-linked dominant [RCV001347901]|not provided [RCV001536582] |
ChrX:154364338 [GRCh38]
ChrX:153592706 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.2590G>T (p.Val864Phe) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV002493899]|FLNA-related disorder [RCV004734155]|Familial thoracic aortic aneurysm and aortic dissection [RCV004822379]|Heterotopia, periventricular, X-linked dominant [RCV001372973] |
ChrX:154362308 [GRCh38]
ChrX:153590676 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.4495G>A (p.Val1499Met) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001316321] |
ChrX:154358548 [GRCh38]
ChrX:153586916 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NC_000023.10:g.(?_153579929)_(153649363_?)dup |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV000708327]|Heterotopia, periventricular, X-linked dominant [RCV001313748] |
ChrX:153579929..153649363 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2267A>G (p.Asn756Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001359901] |
ChrX:154364035 [GRCh38]
ChrX:153592403 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1060C>T (p.His354Tyr) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV002493774]|Familial thoracic aortic aneurysm and aortic dissection [RCV002412086]|Heterotopia, periventricular, X-linked dominant [RCV001345513]|not provided [RCV003159203] |
ChrX:154366567 [GRCh38]
ChrX:153594935 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6766C>T (p.Pro2256Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001317547] |
ChrX:154352184 [GRCh38]
ChrX:153580552 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.305T>G (p.Met102Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001339645] |
ChrX:154370941 [GRCh38]
ChrX:153599309 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5966C>T (p.Pro1989Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001309353] |
ChrX:154353352 [GRCh38]
ChrX:153581720 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.6380-10C>T |
single nucleotide variant |
not provided [RCV001810580] |
ChrX:154352685 [GRCh38]
ChrX:153581053 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4119C>T (p.Pro1373=) |
single nucleotide variant |
FLNA-related disorder [RCV004545175]|not provided [RCV001812433] |
ChrX:154359507 [GRCh38]
ChrX:153587875 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5701G>T (p.Ala1901Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001295571] |
ChrX:154353713 [GRCh38]
ChrX:153582081 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4774A>G (p.Lys1592Glu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001359587] |
ChrX:154357605 [GRCh38]
ChrX:153585973 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1134G>A (p.Gln378=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001396289] |
ChrX:154366402 [GRCh38]
ChrX:153594770 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5965C>T (p.Pro1989Ser) |
single nucleotide variant |
Hereditary breast ovarian cancer syndrome [RCV001374498]|Heterotopia, periventricular, X-linked dominant [RCV003770356] |
ChrX:154353353 [GRCh38]
ChrX:153581721 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.473A>G (p.Glu158Gly) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001368748] |
ChrX:154367991 [GRCh38]
ChrX:153596359 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.302A>G (p.Gln101Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001326927] |
ChrX:154370944 [GRCh38]
ChrX:153599312 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.514C>T (p.Leu172Phe) |
single nucleotide variant |
See cases [RCV001420215] |
ChrX:154367950 [GRCh38]
ChrX:153596318 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.4403C>T (p.Pro1468Leu) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV001291712] |
ChrX:154359055 [GRCh38]
ChrX:153587423 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1863C>A (p.Ile621=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001494585] |
ChrX:154364685 [GRCh38]
ChrX:153593053 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1713C>T (p.Gly571=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002402828]|Heterotopia, periventricular, X-linked dominant [RCV001298575] |
ChrX:154364936 [GRCh38]
ChrX:153593304 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.3924C>T (p.Tyr1308=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002377596]|Heterotopia, periventricular, X-linked dominant [RCV001396351] |
ChrX:154359787 [GRCh38]
ChrX:153588155 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5796del (p.Asp1931_Tyr1932insTer) |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV001310273] |
ChrX:154353618 [GRCh38]
ChrX:153581986 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.2071A>C (p.Lys691Gln) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001339678] |
ChrX:154364324 [GRCh38]
ChrX:153592692 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.216C>T (p.Ser72=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001413225] |
ChrX:154371030 [GRCh38]
ChrX:153599398 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6991G>A (p.Asp2331Asn) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001314256]|not provided [RCV001773626] |
ChrX:154351613 [GRCh38]
ChrX:153579981 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.4125G>A (p.Lys1375=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001473025] |
ChrX:154359501 [GRCh38]
ChrX:153587869 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1053G>T (p.Thr351=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001478023] |
ChrX:154366574 [GRCh38]
ChrX:153594942 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5764G>A (p.Val1922Met) |
single nucleotide variant |
FG syndrome 2 [RCV001843589]|Heterotopia, periventricular, X-linked dominant [RCV001882561]|not provided [RCV001508978]|not specified [RCV002469399] |
ChrX:154353650 [GRCh38]
ChrX:153582018 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.3873G>A (p.Pro1291=) |
single nucleotide variant |
FLNA-related disorder [RCV004540358]|Heterotopia, periventricular, X-linked dominant [RCV001450817] |
ChrX:154359838 [GRCh38]
ChrX:153588206 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4068C>T (p.Ser1356=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001450373] |
ChrX:154359558 [GRCh38]
ChrX:153587926 [GRCh37]
ChrX:Xq28 |
likely benign |
| GRCh38/hg38 Xq28(chrX:153905292-154361918) |
copy number gain |
Syndromic X-linked intellectual disability Lubs type [RCV000012611] |
ChrX:153905292..154361918 [GRCh38]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.149C>G (p.Thr50Arg) |
single nucleotide variant |
not provided [RCV001509134] |
ChrX:154371097 [GRCh38]
ChrX:153599465 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4755+8C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001492418] |
ChrX:154358191 [GRCh38]
ChrX:153586559 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4221C>T (p.Asp1407=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001482711]|not provided [RCV001551911] |
ChrX:154359328 [GRCh38]
ChrX:153587696 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3348C>T (p.Asp1116=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002322444]|Heterotopia, periventricular, X-linked dominant [RCV001425143] |
ChrX:154360447 [GRCh38]
ChrX:153588815 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.933T>C (p.Ala311=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001455163] |
ChrX:154366786 [GRCh38]
ChrX:153595154 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4653T>C (p.Ser1551=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001462472] |
ChrX:154358301 [GRCh38]
ChrX:153586669 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1066-1G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001378079]|not provided [RCV001780283] |
ChrX:154366471 [GRCh38]
ChrX:153594839 [GRCh37]
ChrX:Xq28 |
pathogenic|likely pathogenic |
| NM_001110556.2(FLNA):c.6907+8G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001491119] |
ChrX:154351876 [GRCh38]
ChrX:153580244 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1050G>C (p.Val350=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001417638]|not provided [RCV003738067] |
ChrX:154366577 [GRCh38]
ChrX:153594945 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2762G>A (p.Arg921Gln) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001521277] |
ChrX:154362043 [GRCh38]
ChrX:153590411 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.7710C>G (p.Ala2570=) |
single nucleotide variant |
FLNA-related disorder [RCV004533922]|Heterotopia, periventricular, X-linked dominant [RCV001511054]|not provided [RCV003438849] |
ChrX:154349408 [GRCh38]
ChrX:153577776 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.7488C>G (p.Leu2496=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001417819] |
ChrX:154349713 [GRCh38]
ChrX:153578081 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6329_6330del (p.Glu2110fs) |
microsatellite |
Heterotopia, periventricular, X-linked dominant [RCV001385560] |
ChrX:154352821..154352822 [GRCh38]
ChrX:153581189..153581190 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.1829-6T>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001399942] |
ChrX:154364725 [GRCh38]
ChrX:153593093 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.988-8C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001482513] |
ChrX:154366647 [GRCh38]
ChrX:153595015 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6379+10G>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001467748] |
ChrX:154352762 [GRCh38]
ChrX:153581130 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7033C>T (p.Leu2345=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002368529]|Heterotopia, periventricular, X-linked dominant [RCV001503704] |
ChrX:154351032 [GRCh38]
ChrX:153579400 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1548G>A (p.Lys516=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001402956] |
ChrX:154365368 [GRCh38]
ChrX:153593736 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3957G>A (p.Val1319=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001471563]|not provided [RCV003227035] |
ChrX:154359754 [GRCh38]
ChrX:153588122 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.6087C>T (p.His2029=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001483684] |
ChrX:154353140 [GRCh38]
ChrX:153581508 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4788C>T (p.Ile1596=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001475721] |
ChrX:154357591 [GRCh38]
ChrX:153585959 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4893G>A (p.Pro1631=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002334570]|Heterotopia, periventricular, X-linked dominant [RCV001522064]|not provided [RCV001647317] |
ChrX:154357486 [GRCh38]
ChrX:153585854 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.2826+9A>C |
single nucleotide variant |
not provided [RCV001528390] |
ChrX:154361970 [GRCh38]
ChrX:153590338 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5146del (p.Gln1716fs) |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV001386195] |
ChrX:154354896 [GRCh38]
ChrX:153583264 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.7668C>T (p.Asp2556=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002396123]|Heterotopia, periventricular, X-linked dominant [RCV001474670] |
ChrX:154349450 [GRCh38]
ChrX:153577818 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4311T>C (p.Pro1437=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001398298] |
ChrX:154359147 [GRCh38]
ChrX:153587515 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3759G>A (p.Val1253=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001463659] |
ChrX:154360036 [GRCh38]
ChrX:153588404 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7569C>T (p.Ser2523=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004822411]|Heterotopia, periventricular, X-linked dominant [RCV001506372] |
ChrX:154349549 [GRCh38]
ChrX:153577917 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5218-9G>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001497502]|not provided [RCV001587435] |
ChrX:154354720 [GRCh38]
ChrX:153583088 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2868C>T (p.Ile956=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001393632] |
ChrX:154361746 [GRCh38]
ChrX:153590114 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.829_835del (p.Arg276_Pro277insTer) |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV001384167] |
ChrX:154367430..154367436 [GRCh38]
ChrX:153595798..153595804 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.1122G>C (p.Val374=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001453893] |
ChrX:154366414 [GRCh38]
ChrX:153594782 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4032C>T (p.Pro1344=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001501974] |
ChrX:154359594 [GRCh38]
ChrX:153587962 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1770C>T (p.Val590=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001490130] |
ChrX:154364879 [GRCh38]
ChrX:153593247 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4695C>T (p.Pro1565=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004037249]|Heterotopia, periventricular, X-linked dominant [RCV001485140]|not provided [RCV001551829] |
ChrX:154358259 [GRCh38]
ChrX:153586627 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3966G>A (p.Thr1322=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001427317] |
ChrX:154359745 [GRCh38]
ChrX:153588113 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5487C>T (p.Thr1829=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001427323] |
ChrX:154354221 [GRCh38]
ChrX:153582589 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4138dup (p.Thr1380fs) |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV001389364] |
ChrX:154359487..154359488 [GRCh38]
ChrX:153587855..153587856 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.812del (p.Pro271fs) |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV001382283] |
ChrX:154367453 [GRCh38]
ChrX:153595821 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.5517G>A (p.Leu1839=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001432613] |
ChrX:154354191 [GRCh38]
ChrX:153582559 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4833C>T (p.Asp1611=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003365400]|Heterotopia, periventricular, X-linked dominant [RCV001446071]|not provided [RCV001638093] |
ChrX:154357546 [GRCh38]
ChrX:153585914 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5416+7G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001448792] |
ChrX:154354374 [GRCh38]
ChrX:153582742 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5900C>T (p.Ser1967Phe) |
single nucleotide variant |
not provided [RCV001529831] |
ChrX:154353418 [GRCh38]
ChrX:153581786 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.868+9G>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001419996] |
ChrX:154367388 [GRCh38]
ChrX:153595756 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5286C>T (p.Thr1762=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001407245] |
ChrX:154354643 [GRCh38]
ChrX:153583011 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3006C>A (p.Gly1002=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002438951]|Heterotopia, periventricular, X-linked dominant [RCV001409847]|not provided [RCV003456493] |
ChrX:154361509 [GRCh38]
ChrX:153589877 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2487T>C (p.Asn829=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001426653] |
ChrX:154362496 [GRCh38]
ChrX:153590864 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5115C>T (p.Asp1705=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002341963]|Heterotopia, periventricular, X-linked dominant [RCV001439824] |
ChrX:154354927 [GRCh38]
ChrX:153583295 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1124A>G (p.Asp375Gly) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001439853]|not provided [RCV003145663] |
ChrX:154366412 [GRCh38]
ChrX:153594780 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.6825C>T (p.Val2275=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004038002]|Heterotopia, periventricular, X-linked dominant [RCV001404979] |
ChrX:154351966 [GRCh38]
ChrX:153580334 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2587C>A (p.Arg863=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001444292] |
ChrX:154362311 [GRCh38]
ChrX:153590679 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4155G>A (p.Thr1385=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002329440]|Heterotopia, periventricular, X-linked dominant [RCV001407695] |
ChrX:154359394 [GRCh38]
ChrX:153587762 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.334_335insGAGAACGTGTCGG (p.Glu112fs) |
insertion |
Heterotopia, periventricular, X-linked dominant [RCV001381558] |
ChrX:154370911..154370912 [GRCh38]
ChrX:153599279..153599280 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.4143-9T>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001410291] |
ChrX:154359415 [GRCh38]
ChrX:153587783 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6366C>T (p.Asp2122=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001400746] |
ChrX:154352785 [GRCh38]
ChrX:153581153 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6093C>T (p.Ala2031=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001444696] |
ChrX:154353134 [GRCh38]
ChrX:153581502 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6677dup (p.Gln2227fs) |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV001383480] |
ChrX:154352272..154352273 [GRCh38]
ChrX:153580640..153580641 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.2199C>T (p.Cys733=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002432154]|Heterotopia, periventricular, X-linked dominant [RCV001416075]|not provided [RCV001574871] |
ChrX:154364103 [GRCh38]
ChrX:153592471 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.622+1G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001379671] |
ChrX:154367841 [GRCh38]
ChrX:153596209 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.869-9C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001429365] |
ChrX:154366859 [GRCh38]
ChrX:153595227 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2388C>T (p.Cys796=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002432198]|Heterotopia, periventricular, X-linked dominant [RCV001431356] |
ChrX:154362677 [GRCh38]
ChrX:153591045 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5061C>T (p.Thr1687=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001408617] |
ChrX:154354981 [GRCh38]
ChrX:153583349 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1896T>C (p.Asp632=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001408666] |
ChrX:154364652 [GRCh38]
ChrX:153593020 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6570C>T (p.Ile2190=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002368372]|Heterotopia, periventricular, X-linked dominant [RCV001445286] |
ChrX:154352380 [GRCh38]
ChrX:153580748 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2976A>G (p.Thr992=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002438937]|Heterotopia, periventricular, X-linked dominant [RCV001406333] |
ChrX:154361539 [GRCh38]
ChrX:153589907 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6379+7G>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001429707] |
ChrX:154352765 [GRCh38]
ChrX:153581133 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4593C>G (p.Pro1531=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001442655] |
ChrX:154358450 [GRCh38]
ChrX:153586818 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1377G>A (p.Thr459=) |
single nucleotide variant |
FLNA-related disorder [RCV004531269]|Familial thoracic aortic aneurysm and aortic dissection [RCV002384613]|Heterotopia, periventricular, X-linked dominant [RCV001416545] |
ChrX:154366076 [GRCh38]
ChrX:153594444 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.963G>A (p.Glu321=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002384686]|Heterotopia, periventricular, X-linked dominant [RCV001445677] |
ChrX:154366756 [GRCh38]
ChrX:153595124 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5538T>C (p.Tyr1846=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001448508] |
ChrX:154354170 [GRCh38]
ChrX:153582538 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6770-8T>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001404336]|not provided [RCV001762672] |
ChrX:154352029 [GRCh38]
ChrX:153580397 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2965C>T (p.Gln989Ter) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001389179] |
ChrX:154361550 [GRCh38]
ChrX:153589918 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.5884C>T (p.His1962Tyr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001411655] |
ChrX:154353434 [GRCh38]
ChrX:153581802 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4911G>C (p.Val1637=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004822399]|Heterotopia, periventricular, X-linked dominant [RCV001438433] |
ChrX:154357468 [GRCh38]
ChrX:153585836 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5010G>A (p.Thr1670=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003382619]|Heterotopia, periventricular, X-linked dominant [RCV001505326]|not provided [RCV002264359] |
ChrX:154355032 [GRCh38]
ChrX:153583400 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2827-7T>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001450465] |
ChrX:154361794 [GRCh38]
ChrX:153590162 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6744G>A (p.Leu2248=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001450499] |
ChrX:154352206 [GRCh38]
ChrX:153580574 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3172C>T (p.Pro1058Ser) |
single nucleotide variant |
not provided [RCV001508980] |
ChrX:154361343 [GRCh38]
ChrX:153589711 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1114G>T (p.Val372Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003771556]|not provided [RCV001509133] |
ChrX:154366422 [GRCh38]
ChrX:153594790 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.3606G>A (p.Gly1202=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001468652] |
ChrX:154360189 [GRCh38]
ChrX:153588557 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.374-3C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002538585]|not provided [RCV001666713] |
ChrX:154368093 [GRCh38]
ChrX:153596461 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.6502+3_6502+30del |
deletion |
Attenuated frontometaphyseal dysplasia [RCV001638057] |
ChrX:154352523..154352550 [GRCh38]
ChrX:153580891..153580918 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.3207+223del |
deletion |
not provided [RCV001674032] |
ChrX:154361085 [GRCh38]
ChrX:153589453 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.2331C>T (p.Pro777=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002449275]|Heterotopia, periventricular, X-linked dominant [RCV001482805]|not provided [RCV001550650] |
ChrX:154362734 [GRCh38]
ChrX:153591102 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1687C>T (p.Arg563Cys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002405170]|Heterotopia, periventricular, X-linked dominant [RCV001496238] |
ChrX:154365140 [GRCh38]
ChrX:153593508 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.7504G>A (p.Gly2502Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002388529]|Heterotopia, periventricular, X-linked dominant [RCV001496143] |
ChrX:154349697 [GRCh38]
ChrX:153578065 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2766T>C (p.Asp922=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001462304] |
ChrX:154362039 [GRCh38]
ChrX:153590407 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3935G>A (p.Arg1312His) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002359200]|Heterotopia, periventricular, X-linked dominant [RCV001882737]|not provided [RCV001588763] |
ChrX:154359776 [GRCh38]
ChrX:153588144 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.6227-10C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001516281]|not provided [RCV001568202] |
ChrX:154352934 [GRCh38]
ChrX:153581302 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.6033C>T (p.Phe2011=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002359018]|Heterotopia, periventricular, X-linked dominant [RCV001455941]|not provided [RCV001675993] |
ChrX:154353194 [GRCh38]
ChrX:153581562 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3369C>T (p.Ser1123=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001521984]|not provided [RCV001541559] |
ChrX:154360426 [GRCh38]
ChrX:153588794 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.2316C>A (p.Val772=) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV002495729]|Heterotopia, periventricular, X-linked dominant [RCV001487387] |
ChrX:154362749 [GRCh38]
ChrX:153591117 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6297C>T (p.Asp2099=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002368546]|Heterotopia, periventricular, X-linked dominant [RCV001516831] |
ChrX:154352854 [GRCh38]
ChrX:153581222 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.6738T>C (p.Pro2246=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002360992]|Heterotopia, periventricular, X-linked dominant [RCV002072987]|not provided [RCV001644139] |
ChrX:154352212 [GRCh38]
ChrX:153580580 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7334-4C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001504274] |
ChrX:154349871 [GRCh38]
ChrX:153578239 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.843G>A (p.Pro281=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002414099]|Heterotopia, periventricular, X-linked dominant [RCV001460240] |
ChrX:154367422 [GRCh38]
ChrX:153595790 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2280+75del |
deletion |
not provided [RCV001696605] |
ChrX:154363947 [GRCh38]
ChrX:153592315 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.102C>T (p.Asp34=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004038624]|Heterotopia, periventricular, X-linked dominant [RCV001463680] |
ChrX:154371144 [GRCh38]
ChrX:153599512 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3414C>A (p.Ile1138=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002329637]|Heterotopia, periventricular, X-linked dominant [RCV001504581] |
ChrX:154360381 [GRCh38]
ChrX:153588749 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4923C>T (p.Asp1641=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002350976]|Heterotopia, periventricular, X-linked dominant [RCV001477774] |
ChrX:154357456 [GRCh38]
ChrX:153585824 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3943G>C (p.Gly1315Arg) |
single nucleotide variant |
not provided [RCV001590262] |
ChrX:154359768 [GRCh38]
ChrX:153588136 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4474+89A>C |
single nucleotide variant |
not provided [RCV001649852] |
ChrX:154358895 [GRCh38]
ChrX:153587263 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.1692-11C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002073162]|not provided [RCV001672275] |
ChrX:154364968 [GRCh38]
ChrX:153593336 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1829-10C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002538604]|not provided [RCV001678882] |
ChrX:154364729 [GRCh38]
ChrX:153593097 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.564C>T (p.Phe188=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001498270] |
ChrX:154367900 [GRCh38]
ChrX:153596268 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7766T>C (p.Met2589Thr) |
single nucleotide variant |
not provided [RCV001592481] |
ChrX:154349027 [GRCh38]
ChrX:153577395 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2405-7G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001452942] |
ChrX:154362585 [GRCh38]
ChrX:153590953 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5331G>A (p.Leu1777=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001470122] |
ChrX:154354466 [GRCh38]
ChrX:153582834 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2175C>T (p.Asp725=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001399565] |
ChrX:154364127 [GRCh38]
ChrX:153592495 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5933C>T (p.Thr1978Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003160679]|Heterotopia, periventricular, X-linked dominant [RCV001419325] |
ChrX:154353385 [GRCh38]
ChrX:153581753 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.592C>T (p.Leu198=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001500112]|not provided [RCV001547497] |
ChrX:154367872 [GRCh38]
ChrX:153596240 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5355G>C (p.Val1785=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002350775]|Heterotopia, periventricular, X-linked dominant [RCV001403562] |
ChrX:154354442 [GRCh38]
ChrX:153582810 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5349G>C (p.Leu1783=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001504839] |
ChrX:154354448 [GRCh38]
ChrX:153582816 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4598+7G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001440196] |
ChrX:154358438 [GRCh38]
ChrX:153586806 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.373G>A (p.Asp125Asn) |
single nucleotide variant |
Periventricular nodular heterotopia [RCV001391265] |
ChrX:154370873 [GRCh38]
ChrX:153599241 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.4032C>G (p.Pro1344=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001498977] |
ChrX:154359594 [GRCh38]
ChrX:153587962 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2954T>C (p.Val985Ala) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001513731]|not provided [RCV002261371] |
ChrX:154361561 [GRCh38]
ChrX:153589929 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.4710C>T (p.Ile1570=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002334548]|Heterotopia, periventricular, X-linked dominant [RCV001500477] |
ChrX:154358244 [GRCh38]
ChrX:153586612 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1674T>C (p.Gly558=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001455845] |
ChrX:154365153 [GRCh38]
ChrX:153593521 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2268C>T (p.Asn756=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002449279]|Heterotopia, periventricular, X-linked dominant [RCV001483328] |
ChrX:154364034 [GRCh38]
ChrX:153592402 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4158C>T (p.Gly1386=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001514535] |
ChrX:154359391 [GRCh38]
ChrX:153587759 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.3705C>T (p.Tyr1235=) |
single nucleotide variant |
FLNA-related disorder [RCV004540259]|Familial thoracic aortic aneurysm and aortic dissection [RCV002350754]|Heterotopia, periventricular, X-linked dominant [RCV001397884]|not provided [RCV001664865]|not specified [RCV003987861] |
ChrX:154360090 [GRCh38]
ChrX:153588458 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6630C>T (p.His2210=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001443642] |
ChrX:154352320 [GRCh38]
ChrX:153580688 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3990C>T (p.Ser1330=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004038216]|Heterotopia, periventricular, X-linked dominant [RCV001423838] |
ChrX:154359636 [GRCh38]
ChrX:153588004 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7059del (p.Phe2353fs) |
deletion |
Oto-palato-digital syndrome, type II [RCV001375993] |
ChrX:154351006 [GRCh38]
ChrX:153579374 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.4524C>T (p.Thr1508=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004822398]|Heterotopia, periventricular, X-linked dominant [RCV001437039] |
ChrX:154358519 [GRCh38]
ChrX:153586887 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4353C>T (p.Val1451=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001503925] |
ChrX:154359105 [GRCh38]
ChrX:153587473 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1756C>T (p.Leu586=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001402337] |
ChrX:154364893 [GRCh38]
ChrX:153593261 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4911G>A (p.Val1637=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002342029]|Heterotopia, periventricular, X-linked dominant [RCV001462084] |
ChrX:154357468 [GRCh38]
ChrX:153585836 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.781C>T (p.Leu261=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001483925] |
ChrX:154367484 [GRCh38]
ChrX:153595852 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6847A>C (p.Ile2283Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002368544]|Heterotopia, periventricular, X-linked dominant [RCV001515771]|not provided [RCV001581168] |
ChrX:154351944 [GRCh38]
ChrX:153580312 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.732C>G (p.Pro244=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002384802]|Heterotopia, periventricular, X-linked dominant [RCV001489273] |
ChrX:154367533 [GRCh38]
ChrX:153595901 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1911G>A (p.Pro637=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001424328]|not provided [RCV001552421] |
ChrX:154364637 [GRCh38]
ChrX:153593005 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.270C>T (p.His90=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001393895] |
ChrX:154370976 [GRCh38]
ChrX:153599344 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7233C>T (p.Ile2411=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001418595] |
ChrX:154350131 [GRCh38]
ChrX:153578499 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.813A>G (p.Pro271=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001430824] |
ChrX:154367452 [GRCh38]
ChrX:153595820 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5760C>T (p.Cys1920=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001462325]|not provided [RCV001550270] |
ChrX:154353654 [GRCh38]
ChrX:153582022 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.577C>T (p.Gln193Ter) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001384742] |
ChrX:154367887 [GRCh38]
ChrX:153596255 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.5895C>T (p.Val1965=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002359056]|Heterotopia, periventricular, X-linked dominant [RCV001472303]|not provided [RCV001685363] |
ChrX:154353423 [GRCh38]
ChrX:153581791 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1885G>A (p.Gly629Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003771911]|not provided [RCV001756505] |
ChrX:154364663 [GRCh38]
ChrX:153593031 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.7583A>T (p.His2528Leu) |
single nucleotide variant |
Macrothrombocytopenia [RCV002245473] |
ChrX:154349535 [GRCh38]
ChrX:153577903 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.571G>T (p.Asp191Tyr) |
single nucleotide variant |
Congenital omphalocele [RCV002243573] |
ChrX:154367893 [GRCh38]
ChrX:153596261 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4024A>G (p.Ser1342Gly) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003108981] |
ChrX:154359602 [GRCh38]
ChrX:153587970 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NC_000023.10:g.(?_152014869)_(154563736_?)del |
deletion |
Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003122393]|Dyskeratosis congenita [RCV003105406]|not provided [RCV003105407] |
ChrX:152014869..154563736 [GRCh37]
ChrX:Xq28 |
pathogenic|uncertain significance|no classifications from unflagged records |
| NM_001110556.2(FLNA):c.682G>T (p.Ala228Ser) |
single nucleotide variant |
Oto-palato-digital syndrome, type II [RCV002238711] |
ChrX:154367679 [GRCh38]
ChrX:153596047 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.6907+16C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003109053] |
ChrX:154351868 [GRCh38]
ChrX:153580236 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2228A>C (p.His743Pro) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV001730164] |
ChrX:154364074 [GRCh38]
ChrX:153592442 [GRCh37]
ChrX:Xq28 |
pathogenic|not provided |
| NC_000023.10:g.(?_152014869)_(155171615_?)del |
deletion |
3-Methylglutaconic aciduria type 2 [RCV003119101]|Adrenoleukodystrophy [RCV003119100]|Creatine transporter deficiency [RCV003119103]|Heterotopia, periventricular, X-linked dominant [RCV003109218]|Spastic paraplegia [RCV003109219]|X-linked Emery-Dreifuss muscular dystrophy [RCV003119102] |
ChrX:152014869..155171615 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.2993C>G (p.Ala998Gly) |
single nucleotide variant |
not provided [RCV001730198] |
ChrX:154361522 [GRCh38]
ChrX:153589890 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1260C>G (p.Ile420Met) |
single nucleotide variant |
not provided [RCV001756328] |
ChrX:154366193 [GRCh38]
ChrX:153594561 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1592A>T (p.Lys531Met) |
single nucleotide variant |
not provided [RCV001755171] |
ChrX:154365235 [GRCh38]
ChrX:153593603 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5591A>C (p.Asn1864Thr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002034468]|not provided [RCV001763157] |
ChrX:154354010 [GRCh38]
ChrX:153582378 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| Single allele |
deletion |
Immunodeficiency 33 [RCV002247742]|Splenomegaly [RCV002247743] |
ChrX:153427468..156004919 [GRCh38]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.1165C>T (p.Pro389Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002329723]|not provided [RCV001762920] |
ChrX:154366371 [GRCh38]
ChrX:153594739 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2023-10C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003104390] |
ChrX:154364382 [GRCh38]
ChrX:153592750 [GRCh37]
ChrX:Xq28 |
likely benign |
| GRCh37/hg19 Xq28(chrX:152372767-155233731) |
copy number gain |
Chromosome Xq28 duplication syndrome [RCV002280621]|Syndromic X-linked intellectual disability Lubs type [RCV002280620] |
ChrX:152372767..155233731 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.2423T>C (p.Ile808Thr) |
single nucleotide variant |
not provided [RCV001763289] |
ChrX:154362560 [GRCh38]
ChrX:153590928 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2135A>G (p.Gln712Arg) |
single nucleotide variant |
not provided [RCV001758853] |
ChrX:154364260 [GRCh38]
ChrX:153592628 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7900del (p.Asp2634fs) |
deletion |
not provided [RCV001781122] |
ChrX:154348893 [GRCh38]
ChrX:153577261 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.1288G>A (p.Val430Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001868468]|not provided [RCV001758357] |
ChrX:154366165 [GRCh38]
ChrX:153594533 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.1346C>A (p.Thr449Asn) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002538728]|not provided [RCV001754140] |
ChrX:154366107 [GRCh38]
ChrX:153594475 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.1753G>A (p.Gly585Arg) |
single nucleotide variant |
not provided [RCV001758799] |
ChrX:154364896 [GRCh38]
ChrX:153593264 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7933G>T (p.Val2645Leu) |
single nucleotide variant |
not provided [RCV003238631] |
ChrX:154348860 [GRCh38]
ChrX:153577228 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5184C>T (p.Gly1728=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002334688]|not provided [RCV003238633] |
ChrX:154354858 [GRCh38]
ChrX:153583226 [GRCh37]
ChrX:Xq28 |
likely pathogenic|uncertain significance |
| NM_001110556.2(FLNA):c.5461A>G (p.Thr1821Ala) |
single nucleotide variant |
not provided [RCV001763264] |
ChrX:154354247 [GRCh38]
ChrX:153582615 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4909G>A (p.Val1637Met) |
single nucleotide variant |
not provided [RCV001786051] |
ChrX:154357470 [GRCh38]
ChrX:153585838 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2653A>G (p.Thr885Ala) |
single nucleotide variant |
not provided [RCV001770614] |
ChrX:154362245 [GRCh38]
ChrX:153590613 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3484A>C (p.Lys1162Gln) |
single nucleotide variant |
not provided [RCV001772715] |
ChrX:154360311 [GRCh38]
ChrX:153588679 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7563C>T (p.Leu2521=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002388668]|Heterotopia, periventricular, X-linked dominant [RCV002074109]|not provided [RCV001787490] |
ChrX:154349555 [GRCh38]
ChrX:153577923 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5012T>C (p.Val1671Ala) |
single nucleotide variant |
not provided [RCV001764838] |
ChrX:154355030 [GRCh38]
ChrX:153583398 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1017C>G (p.Asn339Lys) |
single nucleotide variant |
not provided [RCV001767223] |
ChrX:154366610 [GRCh38]
ChrX:153594978 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2691A>G (p.Val897=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003771888]|not provided [RCV001732672] |
ChrX:154362114 [GRCh38]
ChrX:153590482 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2726T>C (p.Val909Ala) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003771978]|not provided [RCV001763522] |
ChrX:154362079 [GRCh38]
ChrX:153590447 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.4814C>A (p.Thr1605Lys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001868423]|not provided [RCV001754609] |
ChrX:154357565 [GRCh38]
ChrX:153585933 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2801C>T (p.Thr934Ile) |
single nucleotide variant |
not provided [RCV001767515] |
ChrX:154362004 [GRCh38]
ChrX:153590372 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1954G>A (p.Glu652Lys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002544150]|not provided [RCV001773174] |
ChrX:154364594 [GRCh38]
ChrX:153592962 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.6286G>A (p.Asp2096Asn) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003772012]|not provided [RCV001752495] |
ChrX:154352865 [GRCh38]
ChrX:153581233 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.5168G>A (p.Cys1723Tyr) |
single nucleotide variant |
not provided [RCV001763715] |
ChrX:154354874 [GRCh38]
ChrX:153583242 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6952G>A (p.Asp2318Asn) |
single nucleotide variant |
FLNA-related disorder [RCV004528528]|Heterotopia, periventricular, X-linked dominant [RCV003107838] |
ChrX:154351652 [GRCh38]
ChrX:153580020 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5185G>A (p.Glu1729Lys) |
single nucleotide variant |
not provided [RCV001752671] |
ChrX:154354857 [GRCh38]
ChrX:153583225 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5336G>A (p.Gly1779Asp) |
single nucleotide variant |
not provided [RCV001765454] |
ChrX:154354461 [GRCh38]
ChrX:153582829 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5599C>T (p.His1867Tyr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003771976]|not provided [RCV001763407] |
ChrX:154354002 [GRCh38]
ChrX:153582370 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5339T>A (p.Val1780Asp) |
single nucleotide variant |
not provided [RCV001767142] |
ChrX:154354458 [GRCh38]
ChrX:153582826 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6317_6319del (p.Tyr2106del) |
deletion |
not provided [RCV001767205] |
ChrX:154352832..154352834 [GRCh38]
ChrX:153581200..153581202 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6517G>A (p.Asp2173Asn) |
single nucleotide variant |
not provided [RCV001786027] |
ChrX:154352433 [GRCh38]
ChrX:153580801 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.677G>A (p.Arg226Gln) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV004785308]|Heterotopia, periventricular, X-linked dominant [RCV002544157]|not provided [RCV001774522] |
ChrX:154367684 [GRCh38]
ChrX:153596052 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5173C>T (p.Arg1725Cys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003771971]|not provided [RCV001772840] |
ChrX:154354869 [GRCh38]
ChrX:153583237 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.503C>T (p.Pro168Leu) |
single nucleotide variant |
not provided [RCV001752018] |
ChrX:154367961 [GRCh38]
ChrX:153596329 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3964A>G (p.Thr1322Ala) |
single nucleotide variant |
not provided [RCV001752043] |
ChrX:154359747 [GRCh38]
ChrX:153588115 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6499C>A (p.Pro2167Thr) |
single nucleotide variant |
not provided [RCV001768732] |
ChrX:154352556 [GRCh38]
ChrX:153580924 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7013C>T (p.Ser2338Phe) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003771899]|not provided [RCV001754024] |
ChrX:154351591 [GRCh38]
ChrX:153579959 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4122C>G (p.Asn1374Lys) |
single nucleotide variant |
not provided [RCV001767641] |
ChrX:154359504 [GRCh38]
ChrX:153587872 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7510C>G (p.Pro2504Ala) |
single nucleotide variant |
not provided [RCV001773310] |
ChrX:154349691 [GRCh38]
ChrX:153578059 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4540A>G (p.Ser1514Gly) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001885073]|not provided [RCV001773395] |
ChrX:154358503 [GRCh38]
ChrX:153586871 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.742G>C (p.Val248Leu) |
single nucleotide variant |
not provided [RCV001752138] |
ChrX:154367523 [GRCh38]
ChrX:153595891 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.278A>G (p.His93Arg) |
single nucleotide variant |
not provided [RCV001751889] |
ChrX:154370968 [GRCh38]
ChrX:153599336 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4234G>A (p.Val1412Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001868876]|not provided [RCV001786237] |
ChrX:154359315 [GRCh38]
ChrX:153587683 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7031G>A (p.Gly2344Glu) |
single nucleotide variant |
not provided [RCV001768843] |
ChrX:154351034 [GRCh38]
ChrX:153579402 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1222A>C (p.Thr408Pro) |
single nucleotide variant |
not provided [RCV001768965] |
ChrX:154366314 [GRCh38]
ChrX:153594682 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7058T>C (p.Phe2353Ser) |
single nucleotide variant |
Neurodevelopmental disorder [RCV001780014] |
ChrX:154351007 [GRCh38]
ChrX:153579375 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.5975G>C (p.Gly1992Ala) |
single nucleotide variant |
not provided [RCV001752462] |
ChrX:154353343 [GRCh38]
ChrX:153581711 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6335G>A (p.Gly2112Asp) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002541332]|not provided [RCV001800013] |
ChrX:154352816 [GRCh38]
ChrX:153581184 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2302C>A (p.His768Asn) |
single nucleotide variant |
not provided [RCV001774272] |
ChrX:154362763 [GRCh38]
ChrX:153591131 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1829-8G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003771920]|not provided [RCV001763021] |
ChrX:154364727 [GRCh38]
ChrX:153593095 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6692G>A (p.Gly2231Glu) |
single nucleotide variant |
not provided [RCV001800131] |
ChrX:154352258 [GRCh38]
ChrX:153580626 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2758G>A (p.Val920Met) |
single nucleotide variant |
not provided [RCV001765505] |
ChrX:154362047 [GRCh38]
ChrX:153590415 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2897C>A (p.Ser966Tyr) |
single nucleotide variant |
not provided [RCV001765230] |
ChrX:154361717 [GRCh38]
ChrX:153590085 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2369C>T (p.Thr790Ile) |
single nucleotide variant |
not provided [RCV001757839] |
ChrX:154362696 [GRCh38]
ChrX:153591064 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4754C>T (p.Thr1585Met) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002032833]|not provided [RCV001768742] |
ChrX:154358200 [GRCh38]
ChrX:153586568 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5870C>G (p.Ser1957Cys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002540470]|not provided [RCV001774295] |
ChrX:154353448 [GRCh38]
ChrX:153581816 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.4211A>G (p.Asp1404Gly) |
single nucleotide variant |
Oto-palato-digital syndrome, type II [RCV003407791]|not provided [RCV001770676] |
ChrX:154359338 [GRCh38]
ChrX:153587706 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4390C>T (p.Arg1464Cys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001861101]|not provided [RCV001770769] |
ChrX:154359068 [GRCh38]
ChrX:153587436 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1772_1774del (p.Val591del) |
deletion |
not provided [RCV001770901] |
ChrX:154364875..154364877 [GRCh38]
ChrX:153593243..153593245 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.641A>G (p.Asp214Gly) |
single nucleotide variant |
not provided [RCV001769218] |
ChrX:154367720 [GRCh38]
ChrX:153596088 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6092C>T (p.Ala2031Val) |
single nucleotide variant |
not provided [RCV001760865] |
ChrX:154353135 [GRCh38]
ChrX:153581503 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5815A>G (p.Asn1939Asp) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003771904]|not provided [RCV001754229] |
ChrX:154353599 [GRCh38]
ChrX:153581967 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2893G>A (p.Val965Ile) |
single nucleotide variant |
not provided [RCV001771435] |
ChrX:154361721 [GRCh38]
ChrX:153590089 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2659_2661delinsTTG (p.Val887Leu) |
indel |
not provided [RCV001758444] |
ChrX:154362144..154362146 [GRCh38]
ChrX:153590512..153590514 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.238C>G (p.Leu80Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001806363] |
ChrX:154371008 [GRCh38]
ChrX:153599376 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.3460G>A (p.Val1154Met) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002541359]|not provided [RCV001811778] |
ChrX:154360335 [GRCh38]
ChrX:153588703 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.7379G>A (p.Gly2460Asp) |
single nucleotide variant |
FLNA-related disorder [RCV004734262]|Heterotopia, periventricular, X-linked dominant [RCV002540464]|not provided [RCV001763687] |
ChrX:154349822 [GRCh38]
ChrX:153578190 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.6179G>C (p.Gly2060Ala) |
single nucleotide variant |
not provided [RCV001786753] |
ChrX:154353048 [GRCh38]
ChrX:153581416 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7285C>T (p.Pro2429Ser) |
single nucleotide variant |
not provided [RCV001800122] |
ChrX:154350079 [GRCh38]
ChrX:153578447 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2944+6T>C |
single nucleotide variant |
not provided [RCV001752112] |
ChrX:154361664 [GRCh38]
ChrX:153590032 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5615G>A (p.Gly1872Glu) |
single nucleotide variant |
not provided [RCV001757921] |
ChrX:154353986 [GRCh38]
ChrX:153582354 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7051G>A (p.Ala2351Thr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002542698]|not specified [RCV001817644] |
ChrX:154351014 [GRCh38]
ChrX:153579382 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.3766T>C (p.Ser1256Pro) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001885227]|not provided [RCV001797414] |
ChrX:154360029 [GRCh38]
ChrX:153588397 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2323T>G (p.Tyr775Asp) |
single nucleotide variant |
not provided [RCV001797475] |
ChrX:154362742 [GRCh38]
ChrX:153591110 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2268C>A (p.Asn756Lys) |
single nucleotide variant |
not provided [RCV001758590] |
ChrX:154364034 [GRCh38]
ChrX:153592402 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5299G>A (p.Gly1767Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003771996]|not provided [RCV001756927] |
ChrX:154354630 [GRCh38]
ChrX:153582998 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.4986_4989dup (p.Ile1664fs) |
duplication |
not provided [RCV001781121] |
ChrX:154355052..154355053 [GRCh38]
ChrX:153583420..153583421 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.6570C>G (p.Ile2190Met) |
single nucleotide variant |
not provided [RCV001757213] |
ChrX:154352380 [GRCh38]
ChrX:153580748 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1873G>A (p.Asp625Asn) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002543941]|not provided [RCV001757835] |
ChrX:154364675 [GRCh38]
ChrX:153593043 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.3502C>T (p.Pro1168Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003771916]|not provided [RCV001757904] |
ChrX:154360293 [GRCh38]
ChrX:153588661 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5396T>C (p.Ile1799Thr) |
single nucleotide variant |
not provided [RCV001779584] |
ChrX:154354401 [GRCh38]
ChrX:153582769 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7294G>A (p.Val2432Met) |
single nucleotide variant |
FG syndrome 2 [RCV001779350] |
ChrX:154350070 [GRCh38]
ChrX:153578438 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.676C>G (p.Arg226Gly) |
single nucleotide variant |
not provided [RCV001758183] |
ChrX:154367685 [GRCh38]
ChrX:153596053 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6245del (p.Leu2082fs) |
deletion |
not provided [RCV001817731] |
ChrX:154352906 [GRCh38]
ChrX:153581274 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.1765G>A (p.Gly589Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002397761]|Heterotopia, periventricular, X-linked dominant [RCV001869716]|not specified [RCV001820354] |
ChrX:154364884 [GRCh38]
ChrX:153593252 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.2671A>G (p.Lys891Glu) |
single nucleotide variant |
not specified [RCV001817395] |
ChrX:154362134 [GRCh38]
ChrX:153590502 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.319G>A (p.Val107Met) |
single nucleotide variant |
not provided [RCV001817710] |
ChrX:154370927 [GRCh38]
ChrX:153599295 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.841C>G (p.Pro281Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002449438]|not specified [RCV001817716] |
ChrX:154367424 [GRCh38]
ChrX:153595792 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4042C>T (p.Pro1348Ser) |
single nucleotide variant |
not provided [RCV001814703] |
ChrX:154359584 [GRCh38]
ChrX:153587952 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2566-15_2566-13del |
microsatellite |
Heterotopia, periventricular, X-linked dominant [RCV002541352]|not provided [RCV001811717] |
ChrX:154362345..154362347 [GRCh38]
ChrX:153590713..153590715 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6090G>A (p.Val2030=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003772212]|not provided [RCV001811825] |
ChrX:154353137 [GRCh38]
ChrX:153581505 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7209C>T (p.Asp2403=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002370339]|Heterotopia, periventricular, X-linked dominant [RCV002542604]|not specified [RCV001820309] |
ChrX:154350155 [GRCh38]
ChrX:153578523 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.769G>A (p.Val257Ile) |
single nucleotide variant |
not specified [RCV004800036] |
ChrX:154367496 [GRCh38]
ChrX:153595864 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4818G>A (p.Val1606=) |
single nucleotide variant |
not specified [RCV001820691] |
ChrX:154357561 [GRCh38]
ChrX:153585929 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.418C>T (p.Leu140Phe) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001808991]|Heterotopia, periventricular, X-linked dominant [RCV002542437] |
ChrX:154368046 [GRCh38]
ChrX:153596414 [GRCh37]
ChrX:Xq28 |
likely pathogenic|uncertain significance |
| NM_001110556.2(FLNA):c.1721G>T (p.Cys574Phe) |
single nucleotide variant |
not provided [RCV001806486] |
ChrX:154364928 [GRCh38]
ChrX:153593296 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1202C>T (p.Thr401Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001864419] |
ChrX:154366334 [GRCh38]
ChrX:153594702 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2672A>T (p.Lys891Met) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002024919] |
ChrX:154362133 [GRCh38]
ChrX:153590501 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5353G>A (p.Val1785Met) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001926652] |
ChrX:154354444 [GRCh38]
ChrX:153582812 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7651G>C (p.Gly2551Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001874082] |
ChrX:154349467 [GRCh38]
ChrX:153577835 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.2524G>A (p.Gly842Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001950363]|not provided [RCV003325591] |
ChrX:154362459 [GRCh38]
ChrX:153590827 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6595T>C (p.Cys2199Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002044862] |
ChrX:154352355 [GRCh38]
ChrX:153580723 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7051G>C (p.Ala2351Pro) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001896213] |
ChrX:154351014 [GRCh38]
ChrX:153579382 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.622+3G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001971242] |
ChrX:154367839 [GRCh38]
ChrX:153596207 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| Single allele |
duplication |
Syndromic X-linked intellectual disability Lubs type [RCV001839062] |
ChrX:140888048..154656872 [GRCh38]
ChrX:Xq27.1-28 |
pathogenic |
| NM_001110556.2(FLNA):c.5510C>T (p.Ala1837Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001864303] |
ChrX:154354198 [GRCh38]
ChrX:153582566 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2065G>A (p.Val689Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002045835] |
ChrX:154364330 [GRCh38]
ChrX:153592698 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.4834G>A (p.Val1612Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003382671]|Heterotopia, periventricular, X-linked dominant [RCV001864658] |
ChrX:154357545 [GRCh38]
ChrX:153585913 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.3469T>C (p.Cys1157Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001928376] |
ChrX:154360326 [GRCh38]
ChrX:153588694 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.6935A>G (p.Asn2312Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001986039] |
ChrX:154351669 [GRCh38]
ChrX:153580037 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7333+1G>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002045185] |
ChrX:154350030 [GRCh38]
ChrX:153578398 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.3280G>T (p.Gly1094Cys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001988354] |
ChrX:154360515 [GRCh38]
ChrX:153588883 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2137-3C>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001864188] |
ChrX:154364168 [GRCh38]
ChrX:153592536 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5686+6C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001950279] |
ChrX:154353909 [GRCh38]
ChrX:153582277 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5908G>A (p.Asp1970Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004822952]|Heterotopia, periventricular, X-linked dominant [RCV001908462] |
ChrX:154353410 [GRCh38]
ChrX:153581778 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.4069C>T (p.Arg1357Trp) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001889918]|not provided [RCV004779166]|not specified [RCV003226500] |
ChrX:154359557 [GRCh38]
ChrX:153587925 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1798G>C (p.Glu600Gln) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002024194] |
ChrX:154364851 [GRCh38]
ChrX:153593219 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.3776A>G (p.Gln1259Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001950133] |
ChrX:154360019 [GRCh38]
ChrX:153588387 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6385C>T (p.Pro2129Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001895907] |
ChrX:154352670 [GRCh38]
ChrX:153581038 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2437G>A (p.Gly813Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001874030] |
ChrX:154362546 [GRCh38]
ChrX:153590914 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1759G>T (p.Glu587Ter) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001950162] |
ChrX:154364890 [GRCh38]
ChrX:153593258 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.2281G>A (p.Val761Met) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001872790] |
ChrX:154362784 [GRCh38]
ChrX:153591152 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.873C>T (p.Ile291=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001949476] |
ChrX:154366846 [GRCh38]
ChrX:153595214 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1844G>A (p.Gly615Glu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002021849] |
ChrX:154364704 [GRCh38]
ChrX:153593072 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.621G>A (p.Pro207=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002022771] |
ChrX:154367843 [GRCh38]
ChrX:153596211 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| GRCh37/hg19 Xq28(chrX:153135263-153594168) |
copy number gain |
not specified [RCV002053209] |
ChrX:153135263..153594168 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.656del (p.Ser219fs) |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV002021923] |
ChrX:154367705 [GRCh38]
ChrX:153596073 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.5506G>C (p.Glu1836Gln) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001912474] |
ChrX:154354202 [GRCh38]
ChrX:153582570 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6590C>T (p.Thr2197Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002002979] |
ChrX:154352360 [GRCh38]
ChrX:153580728 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3310G>A (p.Val1104Met) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002004105] |
ChrX:154360485 [GRCh38]
ChrX:153588853 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4646A>G (p.Lys1549Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002039630] |
ChrX:154358308 [GRCh38]
ChrX:153586676 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5566T>G (p.Leu1856Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002021801] |
ChrX:154354035 [GRCh38]
ChrX:153582403 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| GRCh37/hg19 Xq28(chrX:153093501-153792322)x2 |
copy number gain |
not provided [RCV001834439] |
ChrX:153093501..153792322 [GRCh37]
ChrX:Xq28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 |
copy number loss |
not provided [RCV001834509] |
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_001110556.2(FLNA):c.3173C>T (p.Pro1058Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001946325] |
ChrX:154361342 [GRCh38]
ChrX:153589710 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.7927C>G (p.Arg2643Gly) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001892981] |
ChrX:154348866 [GRCh38]
ChrX:153577234 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2971T>C (p.Phe991Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002004442] |
ChrX:154361544 [GRCh38]
ChrX:153589912 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2751_2752dup (p.Asp918fs) |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV001984611] |
ChrX:154362052..154362053 [GRCh38]
ChrX:153590420..153590421 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.6362C>A (p.Ala2121Asp) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002021721] |
ChrX:154352789 [GRCh38]
ChrX:153581157 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NC_000023.10:g.(?_152986307)_(153593345_?)dup |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV001967054] |
ChrX:152986307..153593345 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5104G>A (p.Glu1702Lys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002004962] |
ChrX:154354938 [GRCh38]
ChrX:153583306 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1180A>G (p.Ser394Gly) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001967180]|not provided [RCV004762259] |
ChrX:154366356 [GRCh38]
ChrX:153594724 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| GRCh37/hg19 Xq28(chrX:153113943-153624020) |
copy number gain |
not specified [RCV002053208] |
ChrX:153113943..153624020 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.1375A>G (p.Thr459Ala) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002021733]|not provided [RCV003319505] |
ChrX:154366078 [GRCh38]
ChrX:153594446 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3478G>A (p.Ala1160Thr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002024662]|not provided [RCV002224140] |
ChrX:154360317 [GRCh38]
ChrX:153588685 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4093A>G (p.Ile1365Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001911971] |
ChrX:154359533 [GRCh38]
ChrX:153587901 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2963_2964del (p.Asp988fs) |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV002007545] |
ChrX:154361551..154361552 [GRCh38]
ChrX:153589919..153589920 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.7556C>G (p.Pro2519Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001966245] |
ChrX:154349562 [GRCh38]
ChrX:153577930 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2695G>A (p.Ala899Thr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001891405] |
ChrX:154362110 [GRCh38]
ChrX:153590478 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6318C>G (p.Tyr2106Ter) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001892782] |
ChrX:154352833 [GRCh38]
ChrX:153581201 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.3865G>A (p.Gly1289Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001895317] |
ChrX:154359846 [GRCh38]
ChrX:153588214 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.7324G>A (p.Gly2442Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001895675]|See cases [RCV002252716]|not provided [RCV004809688] |
ChrX:154350040 [GRCh38]
ChrX:153578408 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.4799A>G (p.His1600Arg) |
single nucleotide variant |
not provided [RCV004814755] |
ChrX:154357580 [GRCh38]
ChrX:153585948 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6215C>G (p.Thr2072Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001928595] |
ChrX:154353012 [GRCh38]
ChrX:153581380 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5971T>C (p.Ser1991Pro) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002543347]|not provided [RCV001847389] |
ChrX:154353347 [GRCh38]
ChrX:153581715 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2570C>T (p.Thr857Met) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002023815] |
ChrX:154362328 [GRCh38]
ChrX:153590696 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.3362C>T (p.Thr1121Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001966815] |
ChrX:154360433 [GRCh38]
ChrX:153588801 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5157A>G (p.Lys1719=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001890179] |
ChrX:154354885 [GRCh38]
ChrX:153583253 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5125G>T (p.Asp1709Tyr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002023426] |
ChrX:154354917 [GRCh38]
ChrX:153583285 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2206G>A (p.Val736Met) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001967099] |
ChrX:154364096 [GRCh38]
ChrX:153592464 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.2522G>A (p.Arg841Gln) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001965581] |
ChrX:154362461 [GRCh38]
ChrX:153590829 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.3755C>T (p.Ala1252Val) |
single nucleotide variant |
Frontometaphyseal dysplasia 1 [RCV004796701]|Heterotopia, periventricular, X-linked dominant [RCV001986854] |
ChrX:154360040 [GRCh38]
ChrX:153588408 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.7351G>A (p.Val2451Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002008070] |
ChrX:154349850 [GRCh38]
ChrX:153578218 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7671del (p.Ser2558fs) |
deletion |
Patent foramen ovale [RCV001829382] |
ChrX:154349447 [GRCh38]
ChrX:153577815 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.6688G>A (p.Val2230Met) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001871504] |
ChrX:154352262 [GRCh38]
ChrX:153580630 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6901G>A (p.Glu2301Lys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001965515] |
ChrX:154351890 [GRCh38]
ChrX:153580258 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NC_000023.10:g.(?_153599231)_(153609567_?)del |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV001946603] |
ChrX:153599231..153609567 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.268C>T (p.His90Tyr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001965630] |
ChrX:154370978 [GRCh38]
ChrX:153599346 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5534_5554del (p.Arg1845_Ile1851del) |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV001966823] |
ChrX:154354154..154354174 [GRCh38]
ChrX:153582522..153582542 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6733G>A (p.Gly2245Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002040942]|not provided [RCV003324845] |
ChrX:154352217 [GRCh38]
ChrX:153580585 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 |
copy number gain |
not provided [RCV001829212] |
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_001110556.2(FLNA):c.2505G>T (p.Thr835=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001965517] |
ChrX:154362478 [GRCh38]
ChrX:153590846 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3251C>T (p.Ser1084Phe) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002324258]|Heterotopia, periventricular, X-linked dominant [RCV001947187] |
ChrX:154360544 [GRCh38]
ChrX:153588912 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.6125C>T (p.Ser2042Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001871468] |
ChrX:154353102 [GRCh38]
ChrX:153581470 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.7896G>C (p.Trp2632Cys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001912117] |
ChrX:154348897 [GRCh38]
ChrX:153577265 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2281-10T>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001892008] |
ChrX:154362794 [GRCh38]
ChrX:153591162 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.4625C>T (p.Thr1542Ile) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV002498009]|Heterotopia, periventricular, X-linked dominant [RCV002042590]|not specified [RCV003120800] |
ChrX:154358329 [GRCh38]
ChrX:153586697 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.3946A>G (p.Met1316Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002021066] |
ChrX:154359765 [GRCh38]
ChrX:153588133 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1855G>C (p.Ala619Pro) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001964813] |
ChrX:154364693 [GRCh38]
ChrX:153593061 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6050G>A (p.Gly2017Glu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001945905] |
ChrX:154353177 [GRCh38]
ChrX:153581545 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.2405-11C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001890003]|not provided [RCV004704663] |
ChrX:154362589 [GRCh38]
ChrX:153590957 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5112_5114del (p.Glu1704del) |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV001890087] |
ChrX:154354928..154354930 [GRCh38]
ChrX:153583296..153583298 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5360G>C (p.Ser1787Thr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001891640] |
ChrX:154354437 [GRCh38]
ChrX:153582805 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4051G>A (p.Glu1351Lys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002004218] |
ChrX:154359575 [GRCh38]
ChrX:153587943 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.4727G>A (p.Gly1576Glu) |
single nucleotide variant |
FLNA-related disorder [RCV004545834] |
ChrX:154358227 [GRCh38]
ChrX:153586595 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7322G>A (p.Gly2441Asp) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001962353] |
ChrX:154350042 [GRCh38]
ChrX:153578410 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.2662G>A (p.Glu888Lys) |
single nucleotide variant |
FLNA-related disorder [RCV004728889]|Familial thoracic aortic aneurysm and aortic dissection [RCV004041178]|Heterotopia, periventricular, X-linked dominant [RCV001886189] |
ChrX:154362143 [GRCh38]
ChrX:153590511 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.5558-20G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001951689] |
ChrX:154354063 [GRCh38]
ChrX:153582431 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5095G>A (p.Asp1699Asn) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001981639] |
ChrX:154354947 [GRCh38]
ChrX:153583315 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.3837T>C (p.Ser1279=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001942296] |
ChrX:154359874 [GRCh38]
ChrX:153588242 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.71G>T (p.Arg24Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004042092]|Heterotopia, periventricular, X-linked dominant [RCV001944429] |
ChrX:154371175 [GRCh38]
ChrX:153599543 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.2247G>C (p.Trp749Cys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002001217] |
ChrX:154364055 [GRCh38]
ChrX:153592423 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1456G>A (p.Val486Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001924644] |
ChrX:154365460 [GRCh38]
ChrX:153593828 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.67A>G (p.Thr23Ala) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002019411] |
ChrX:154371179 [GRCh38]
ChrX:153599547 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.3863C>G (p.Thr1288Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001906005] |
ChrX:154359848 [GRCh38]
ChrX:153588216 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3497C>T (p.Ser1166Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002000479] |
ChrX:154360298 [GRCh38]
ChrX:153588666 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3671T>G (p.Leu1224Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002038199] |
ChrX:154360124 [GRCh38]
ChrX:153588492 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6067G>C (p.Val2023Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001942409] |
ChrX:154353160 [GRCh38]
ChrX:153581528 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5940_5945dup (p.Ser1981_Leu1982dup) |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV001919457] |
ChrX:154353372..154353373 [GRCh38]
ChrX:153581740..153581741 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3979+4C>T |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004044562]|Heterotopia, periventricular, X-linked dominant [RCV001963726]|not provided [RCV004591669] |
ChrX:154359728 [GRCh38]
ChrX:153588096 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.471GGA[2] (p.Glu159del) |
microsatellite |
Heterotopia, periventricular, X-linked dominant [RCV001922677]|not provided [RCV004720969] |
ChrX:154367985..154367987 [GRCh38]
ChrX:153596353..153596355 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.720+18G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001962572] |
ChrX:154367623 [GRCh38]
ChrX:153595991 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.6898C>T (p.Gln2300Ter) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001950812] |
ChrX:154351893 [GRCh38]
ChrX:153580261 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.1066-4A>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002000029] |
ChrX:154366474 [GRCh38]
ChrX:153594842 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.185A>G (p.Lys62Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001886791] |
ChrX:154371061 [GRCh38]
ChrX:153599429 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6588C>G (p.His2196Gln) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001934412] |
ChrX:154352362 [GRCh38]
ChrX:153580730 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7928G>C (p.Arg2643Pro) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001888769] |
ChrX:154348865 [GRCh38]
ChrX:153577233 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6319T>G (p.Cys2107Gly) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002009754] |
ChrX:154352832 [GRCh38]
ChrX:153581200 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2464A>G (p.Ile822Val) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV002503472]|Heterotopia, periventricular, X-linked dominant [RCV001897280] |
ChrX:154362519 [GRCh38]
ChrX:153590887 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2894T>C (p.Val965Ala) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002030205] |
ChrX:154361720 [GRCh38]
ChrX:153590088 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4281del (p.Tyr1428fs) |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV001951125] |
ChrX:154359268 [GRCh38]
ChrX:153587636 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.687G>A (p.Met229Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002017038] |
ChrX:154367674 [GRCh38]
ChrX:153596042 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2077G>A (p.Ala693Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004044807]|Heterotopia, periventricular, X-linked dominant [RCV002038742] |
ChrX:154364318 [GRCh38]
ChrX:153592686 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.664G>A (p.Val222Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002038744] |
ChrX:154367697 [GRCh38]
ChrX:153596065 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.3242G>A (p.Ser1081Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002324466]|Heterotopia, periventricular, X-linked dominant [RCV002019406] |
ChrX:154360553 [GRCh38]
ChrX:153588921 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.4561A>G (p.Ile1521Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001979542] |
ChrX:154358482 [GRCh38]
ChrX:153586850 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5774T>G (p.Leu1925Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001888889] |
ChrX:154353640 [GRCh38]
ChrX:153582008 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5156A>G (p.Lys1719Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001943618]|Heterotopia, periventricular, X-linked dominant [RCV004785383] |
ChrX:154354886 [GRCh38]
ChrX:153583254 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NC_000023.10:g.(?_153577211)_(153640295_?)dup |
duplication |
X-linked Emery-Dreifuss muscular dystrophy [RCV002015539] |
ChrX:153577211..153640295 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1829-3C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001942592] |
ChrX:154364722 [GRCh38]
ChrX:153593090 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5393_5395del (p.Thr1798del) |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV002038796] |
ChrX:154354402..154354404 [GRCh38]
ChrX:153582770..153582772 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1963C>T (p.Arg655Cys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001943702]|not provided [RCV003167237] |
ChrX:154364585 [GRCh38]
ChrX:153592953 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.5333T>A (p.Val1778Glu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002016140]|not provided [RCV003146480] |
ChrX:154354464 [GRCh38]
ChrX:153582832 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.982G>C (p.Glu328Gln) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001920310] |
ChrX:154366737 [GRCh38]
ChrX:153595105 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7372G>A (p.Gly2458Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001973952] |
ChrX:154349829 [GRCh38]
ChrX:153578197 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.463T>G (p.Trp155Gly) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002033374] |
ChrX:154368001 [GRCh38]
ChrX:153596369 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2362G>A (p.Glu788Lys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001903727] |
ChrX:154362703 [GRCh38]
ChrX:153591071 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.5239_5250del (p.Ser1747_Pro1750del) |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV001877515] |
ChrX:154354679..154354690 [GRCh38]
ChrX:153583047..153583058 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1429G>A (p.Ala477Thr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001919459] |
ChrX:154366024 [GRCh38]
ChrX:153594392 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2113G>A (p.Ala705Thr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001989988] |
ChrX:154364282 [GRCh38]
ChrX:153592650 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7757-5del |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV002011869] |
ChrX:154349041 [GRCh38]
ChrX:153577409 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.17C>T (p.Ser6Phe) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001931371] |
ChrX:154371229 [GRCh38]
ChrX:153599597 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.2221G>A (p.Val741Met) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001953320] |
ChrX:154364081 [GRCh38]
ChrX:153592449 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.7024-18del |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV002014441] |
ChrX:154351059 [GRCh38]
ChrX:153579427 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6773A>G (p.Glu2258Gly) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001977517] |
ChrX:154352018 [GRCh38]
ChrX:153580386 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1348A>T (p.Met450Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001931576] |
ChrX:154366105 [GRCh38]
ChrX:153594473 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6196G>A (p.Ala2066Thr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001992999] |
ChrX:154353031 [GRCh38]
ChrX:153581399 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2189C>G (p.Thr730Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001978151] |
ChrX:154364113 [GRCh38]
ChrX:153592481 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1429+13C>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001990383] |
ChrX:154366011 [GRCh38]
ChrX:153594379 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.1628A>G (p.Tyr543Cys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001897210]|not specified [RCV003323941] |
ChrX:154365199 [GRCh38]
ChrX:153593567 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6140C>G (p.Ala2047Gly) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001881341] |
ChrX:154353087 [GRCh38]
ChrX:153581455 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.6197C>T (p.Ala2066Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001978256] |
ChrX:154353030 [GRCh38]
ChrX:153581398 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2488G>T (p.Asp830Tyr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001989184] |
ChrX:154362495 [GRCh38]
ChrX:153590863 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.353G>A (p.Ser118Asn) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001930557] |
ChrX:154370893 [GRCh38]
ChrX:153599261 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5400G>T (p.Lys1800Asn) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002011247] |
ChrX:154354397 [GRCh38]
ChrX:153582765 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6425_6428del (p.Glu2142fs) |
microsatellite |
Heterotopia, periventricular, X-linked dominant [RCV001995963] |
ChrX:154352627..154352630 [GRCh38]
ChrX:153580995..153580998 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.3592T>C (p.Cys1198Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002012621] |
ChrX:154360203 [GRCh38]
ChrX:153588571 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.1717G>A (p.Glu573Lys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001957393] |
ChrX:154364932 [GRCh38]
ChrX:153593300 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.4056C>G (p.Gly1352=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001917404] |
ChrX:154359570 [GRCh38]
ChrX:153587938 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.3074G>A (p.Gly1025Glu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002047747] |
ChrX:154361441 [GRCh38]
ChrX:153589809 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1154C>T (p.Thr385Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001992186] |
ChrX:154366382 [GRCh38]
ChrX:153594750 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7798C>A (p.Pro2600Thr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001902973] |
ChrX:154348995 [GRCh38]
ChrX:153577363 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6602G>A (p.Arg2201His) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001957485] |
ChrX:154352348 [GRCh38]
ChrX:153580716 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.2565+6del |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV002018163] |
ChrX:154362412 [GRCh38]
ChrX:153590780 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1907G>A (p.Trp636Ter) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001972631] |
ChrX:154364641 [GRCh38]
ChrX:153593009 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.4432G>T (p.Ala1478Ser) |
single nucleotide variant |
FLNA-related disorder [RCV004536377]|Heterotopia, periventricular, X-linked dominant [RCV001870460]|not provided [RCV004793540] |
ChrX:154359026 [GRCh38]
ChrX:153587394 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.3979+6T>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001993670] |
ChrX:154359726 [GRCh38]
ChrX:153588094 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7834C>T (p.Arg2612Trp) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV002266096]|FLNA-related disorder [RCV004538751]|Heterotopia, periventricular, X-linked dominant [RCV002031730] |
ChrX:154348959 [GRCh38]
ChrX:153577327 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.1232C>T (p.Ala411Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001975361] |
ChrX:154366221 [GRCh38]
ChrX:153594589 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1111G>C (p.Glu371Gln) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001979461] |
ChrX:154366425 [GRCh38]
ChrX:153594793 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4304-8A>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001959753] |
ChrX:154359162 [GRCh38]
ChrX:153587530 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6933C>A (p.Phe2311Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001919283] |
ChrX:154351671 [GRCh38]
ChrX:153580039 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2020A>G (p.Arg674Gly) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001978728] |
ChrX:154364528 [GRCh38]
ChrX:153592896 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.374-10C>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001975563] |
ChrX:154368100 [GRCh38]
ChrX:153596468 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3546A>G (p.Gln1182=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001961566] |
ChrX:154360249 [GRCh38]
ChrX:153588617 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.2452G>A (p.Ala818Thr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001953312] |
ChrX:154362531 [GRCh38]
ChrX:153590899 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.2179G>A (p.Gly727Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002425189]|Heterotopia, periventricular, X-linked dominant [RCV001900906]|not provided [RCV004728911] |
ChrX:154364123 [GRCh38]
ChrX:153592491 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1170C>T (p.Gly390=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002331375]|Heterotopia, periventricular, X-linked dominant [RCV001930176] |
ChrX:154366366 [GRCh38]
ChrX:153594734 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.7423G>A (p.Asp2475Asn) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001932932]|not provided [RCV003229904] |
ChrX:154349778 [GRCh38]
ChrX:153578146 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7005_7008del (p.Thr2336fs) |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV001953626] |
ChrX:154351596..154351599 [GRCh38]
ChrX:153579964..153579967 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.7255C>G (p.Arg2419Gly) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002370416]|Heterotopia, periventricular, X-linked dominant [RCV001882924] |
ChrX:154350109 [GRCh38]
ChrX:153578477 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.7333+17G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001919975] |
ChrX:154350014 [GRCh38]
ChrX:153578382 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.889A>C (p.Met297Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001879612] |
ChrX:154366830 [GRCh38]
ChrX:153595198 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.652G>A (p.Ala218Thr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001919979] |
ChrX:154367709 [GRCh38]
ChrX:153596077 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.4033T>G (p.Phe1345Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001923699] |
ChrX:154359593 [GRCh38]
ChrX:153587961 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2827-8C>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001997411] |
ChrX:154361795 [GRCh38]
ChrX:153590163 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.1105C>G (p.Pro369Ala) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001885527] |
ChrX:154366431 [GRCh38]
ChrX:153594799 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6022G>C (p.Gly2008Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001866918] |
ChrX:154353296 [GRCh38]
ChrX:153581664 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6154G>A (p.Val2052Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001884316] |
ChrX:154353073 [GRCh38]
ChrX:153581441 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.2191_2192insGT (p.Tyr731fs) |
insertion |
Heterotopia, periventricular, X-linked dominant [RCV001918386] |
ChrX:154364110..154364111 [GRCh38]
ChrX:153592478..153592479 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.5545A>G (p.Met1849Val) |
single nucleotide variant |
FLNA-related disorder [RCV004529062]|Heterotopia, periventricular, X-linked dominant [RCV001996633] |
ChrX:154354163 [GRCh38]
ChrX:153582531 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5827G>A (p.Val1943Ile) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003382794]|Heterotopia, periventricular, X-linked dominant [RCV002017508] |
ChrX:154353587 [GRCh38]
ChrX:153581955 [GRCh37]
ChrX:Xq28 |
benign|likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.5861-11G>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001958762] |
ChrX:154353468 [GRCh38]
ChrX:153581836 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2104G>A (p.Gly702Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002422996]|Heterotopia, periventricular, X-linked dominant [RCV001906214] |
ChrX:154364291 [GRCh38]
ChrX:153592659 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.7375G>A (p.Ala2459Thr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001980665]|Macrothrombocytopenia [RCV002243500] |
ChrX:154349826 [GRCh38]
ChrX:153578194 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1052C>T (p.Thr351Met) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001906611] |
ChrX:154366575 [GRCh38]
ChrX:153594943 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6870C>A (p.Asp2290Glu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001925737] |
ChrX:154351921 [GRCh38]
ChrX:153580289 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1991G>T (p.Arg664Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002018079] |
ChrX:154364557 [GRCh38]
ChrX:153592925 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5257C>T (p.Arg1753Trp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002346299]|Heterotopia, periventricular, X-linked dominant [RCV002018609] |
ChrX:154354672 [GRCh38]
ChrX:153583040 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.186G>T (p.Lys62Asn) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001906454] |
ChrX:154371060 [GRCh38]
ChrX:153599428 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4506C>G (p.Asn1502Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004041075]|Heterotopia, periventricular, X-linked dominant [RCV001885997] |
ChrX:154358537 [GRCh38]
ChrX:153586905 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.1112_1113dup (p.Val372fs) |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV001982372] |
ChrX:154366422..154366423 [GRCh38]
ChrX:153594790..153594791 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.4343C>G (p.Ala1448Gly) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004822948]|Heterotopia, periventricular, X-linked dominant [RCV001886101] |
ChrX:154359115 [GRCh38]
ChrX:153587483 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3650A>G (p.His1217Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001886116] |
ChrX:154360145 [GRCh38]
ChrX:153588513 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.167A>G (p.His56Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002028814]|Heterotopia, periventricular, X-linked dominant [RCV003389078] |
ChrX:154371079 [GRCh38]
ChrX:153599447 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2783A>G (p.His928Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001899887] |
ChrX:154362022 [GRCh38]
ChrX:153590390 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.3529G>A (p.Glu1177Lys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001876309] |
ChrX:154360266 [GRCh38]
ChrX:153588634 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7630G>T (p.Ala2544Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001878050] |
ChrX:154349488 [GRCh38]
ChrX:153577856 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7285_7286dup (p.Gly2430fs) |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV001917832] |
ChrX:154350077..154350078 [GRCh38]
ChrX:153578445..153578446 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.7023+1G>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002010697] |
ChrX:154351580 [GRCh38]
ChrX:153579948 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.2167G>C (p.Val723Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001920373] |
ChrX:154364135 [GRCh38]
ChrX:153592503 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3283G>A (p.Ala1095Thr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001921325] |
ChrX:154360512 [GRCh38]
ChrX:153588880 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.2332G>A (p.Gly778Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002049983] |
ChrX:154362733 [GRCh38]
ChrX:153591101 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2167G>A (p.Val723Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001877522] |
ChrX:154364135 [GRCh38]
ChrX:153592503 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4543C>A (p.Arg1515=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002011737] |
ChrX:154358500 [GRCh38]
ChrX:153586868 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.3248G>A (p.Gly1083Asp) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002049026] |
ChrX:154360547 [GRCh38]
ChrX:153588915 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2319A>C (p.Lys773Asn) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001933545] |
ChrX:154362746 [GRCh38]
ChrX:153591114 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7634C>T (p.Pro2545Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002012651] |
ChrX:154349484 [GRCh38]
ChrX:153577852 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1088A>G (p.Gln363Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001898634] |
ChrX:154366448 [GRCh38]
ChrX:153594816 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6209T>C (p.Ile2070Thr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001878686] |
ChrX:154353018 [GRCh38]
ChrX:153581386 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.1816G>A (p.Val606Met) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001921911] |
ChrX:154364833 [GRCh38]
ChrX:153593201 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2094T>G (p.Asp698Glu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001990346] |
ChrX:154364301 [GRCh38]
ChrX:153592669 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7221C>G (p.Asn2407Lys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV001897651] |
ChrX:154350143 [GRCh38]
ChrX:153578511 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1922G>T (p.Gly641Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002050216] |
ChrX:154364626 [GRCh38]
ChrX:153592994 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1684G>A (p.Gly562Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002397930]|Heterotopia, periventricular, X-linked dominant [RCV001933703]|not provided [RCV004793616] |
ChrX:154365143 [GRCh38]
ChrX:153593511 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.5586C>T (p.Tyr1862=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002085122] |
ChrX:154354015 [GRCh38]
ChrX:153582383 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1659C>T (p.Thr553=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002130878] |
ChrX:154365168 [GRCh38]
ChrX:153593536 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3980-4C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002092553] |
ChrX:154359650 [GRCh38]
ChrX:153588018 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2405-20C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002104959] |
ChrX:154362598 [GRCh38]
ChrX:153590966 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2280+14C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002107178] |
ChrX:154364008 [GRCh38]
ChrX:153592376 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2319A>G (p.Lys773=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002191287] |
ChrX:154362746 [GRCh38]
ChrX:153591114 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2811C>T (p.Tyr937=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002434514]|Heterotopia, periventricular, X-linked dominant [RCV002146955] |
ChrX:154361994 [GRCh38]
ChrX:153590362 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6502+17G>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002088777] |
ChrX:154352536 [GRCh38]
ChrX:153580904 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5217+20A>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002126967] |
ChrX:154354805 [GRCh38]
ChrX:153583173 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4579G>A (p.Asp1527Asn) |
single nucleotide variant |
FLNA-related disorder [RCV004734453]|Heterotopia, periventricular, X-linked dominant [RCV002183040]|not provided [RCV002225967] |
ChrX:154358464 [GRCh38]
ChrX:153586832 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.4761C>T (p.Pro1587=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002105989] |
ChrX:154357618 [GRCh38]
ChrX:153585986 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4644G>A (p.Val1548=) |
single nucleotide variant |
FLNA-related disorder [RCV004734465]|Heterotopia, periventricular, X-linked dominant [RCV002124545] |
ChrX:154358310 [GRCh38]
ChrX:153586678 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2137-14T>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002110780] |
ChrX:154364179 [GRCh38]
ChrX:153592547 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3777G>A (p.Gln1259=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002206069] |
ChrX:154360018 [GRCh38]
ChrX:153588386 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5314-12T>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002189726] |
ChrX:154354495 [GRCh38]
ChrX:153582863 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4945+13G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002110987] |
ChrX:154357421 [GRCh38]
ChrX:153585789 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.762G>A (p.Glu254=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004044935]|Heterotopia, periventricular, X-linked dominant [RCV002106837] |
ChrX:154367503 [GRCh38]
ChrX:153595871 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4963G>A (p.Gly1655Arg) |
single nucleotide variant |
not provided [RCV002224823] |
ChrX:154357257 [GRCh38]
ChrX:153585625 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1066-20del |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV002087055] |
ChrX:154366490 [GRCh38]
ChrX:153594858 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4142+15A>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002088133] |
ChrX:154359469 [GRCh38]
ChrX:153587837 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5862T>G (p.Gly1954=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002169143] |
ChrX:154353456 [GRCh38]
ChrX:153581824 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2405-16C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002169216] |
ChrX:154362594 [GRCh38]
ChrX:153590962 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7756+12G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002205630] |
ChrX:154349350 [GRCh38]
ChrX:153577718 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2508C>A (p.Val836=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002190071] |
ChrX:154362475 [GRCh38]
ChrX:153590843 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4303+14G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002205489] |
ChrX:154359232 [GRCh38]
ChrX:153587600 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.987+11C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002128291] |
ChrX:154366721 [GRCh38]
ChrX:153595089 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5557+17T>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002105634]|not specified [RCV004700621] |
ChrX:154354134 [GRCh38]
ChrX:153582502 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.988-7A>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002186907] |
ChrX:154366646 [GRCh38]
ChrX:153595014 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2657-17C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002086243] |
ChrX:154362165 [GRCh38]
ChrX:153590533 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6907+14G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002090978]|not specified [RCV004700610] |
ChrX:154351870 [GRCh38]
ChrX:153580238 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4142+19G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002104408] |
ChrX:154359465 [GRCh38]
ChrX:153587833 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4304-18C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002168353] |
ChrX:154359172 [GRCh38]
ChrX:153587540 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3207+7G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002206183] |
ChrX:154361301 [GRCh38]
ChrX:153589669 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4142+14C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002086141] |
ChrX:154359470 [GRCh38]
ChrX:153587838 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6915C>T (p.Tyr2305=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002109062]|Thrombocytopenia [RCV003313794]|not provided [RCV003738149] |
ChrX:154351689 [GRCh38]
ChrX:153580057 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.2541C>T (p.Thr847=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002427651]|Heterotopia, periventricular, X-linked dominant [RCV002146990] |
ChrX:154362442 [GRCh38]
ChrX:153590810 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6379+19C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002125122]|not specified [RCV004587314] |
ChrX:154352753 [GRCh38]
ChrX:153581121 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4986C>G (p.Pro1662=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002075058] |
ChrX:154355056 [GRCh38]
ChrX:153583424 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7527C>T (p.Gly2509=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002106390] |
ChrX:154349674 [GRCh38]
ChrX:153578042 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2136+14G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002109263] |
ChrX:154364245 [GRCh38]
ChrX:153592613 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2235C>T (p.Ala745=) |
single nucleotide variant |
FLNA-related disorder [RCV004543693]|Heterotopia, periventricular, X-linked dominant [RCV002072792]|not specified [RCV004801143] |
ChrX:154364067 [GRCh38]
ChrX:153592435 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.666T>A (p.Val222=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002205128] |
ChrX:154367695 [GRCh38]
ChrX:153596063 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5688G>A (p.Gly1896=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002145136] |
ChrX:154353726 [GRCh38]
ChrX:153582094 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7024-16T>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002129403] |
ChrX:154351057 [GRCh38]
ChrX:153579425 [GRCh37]
ChrX:Xq28 |
likely benign |
| NC_000023.11:g.154366588C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002246086]|Heterotopia, periventricular, X-linked dominant [RCV003772164] |
|
benign|uncertain significance |
| NM_001110556.2(FLNA):c.5515C>G (p.Leu1839Val) |
single nucleotide variant |
not specified [RCV002247837] |
ChrX:154354193 [GRCh38]
ChrX:153582561 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2876G>A (p.Ser959Asn) |
single nucleotide variant |
not provided [RCV002226105] |
ChrX:154361738 [GRCh38]
ChrX:153590106 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.231T>C (p.Leu77=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002109797] |
ChrX:154371015 [GRCh38]
ChrX:153599383 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7665T>C (p.Ala2555=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002206963] |
ChrX:154349453 [GRCh38]
ChrX:153577821 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1228+19G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002128048] |
ChrX:154366289 [GRCh38]
ChrX:153594657 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4575T>C (p.Tyr1525=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002128119] |
ChrX:154358468 [GRCh38]
ChrX:153586836 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5034G>A (p.Ala1678=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002152849] |
ChrX:154355008 [GRCh38]
ChrX:153583376 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.18T>C (p.Ser6=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002117424] |
ChrX:154371228 [GRCh38]
ChrX:153599596 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2827-15C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002081135] |
ChrX:154361802 [GRCh38]
ChrX:153590170 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.601C>T (p.Leu201=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002212528] |
ChrX:154367863 [GRCh38]
ChrX:153596231 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1440G>A (p.Pro480=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002128947] |
ChrX:154365476 [GRCh38]
ChrX:153593844 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1568-20G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002114535] |
ChrX:154365279 [GRCh38]
ChrX:153593647 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6907+13C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002151045] |
ChrX:154351871 [GRCh38]
ChrX:153580239 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.622+16G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002117025] |
ChrX:154367826 [GRCh38]
ChrX:153596194 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4304-20C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002089357] |
ChrX:154359174 [GRCh38]
ChrX:153587542 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7857G>A (p.Leu2619=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002172428] |
ChrX:154348936 [GRCh38]
ChrX:153577304 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4970-4C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002117033] |
ChrX:154355076 [GRCh38]
ChrX:153583444 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3636C>T (p.His1212=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002192752] |
ChrX:154360159 [GRCh38]
ChrX:153588527 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4143-19G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002097306] |
ChrX:154359425 [GRCh38]
ChrX:153587793 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6380-17G>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002086668] |
ChrX:154352692 [GRCh38]
ChrX:153581060 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1229-7G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002095104] |
ChrX:154366231 [GRCh38]
ChrX:153594599 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.786C>G (p.Ser262=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002407347]|Heterotopia, periventricular, X-linked dominant [RCV002174979] |
ChrX:154367479 [GRCh38]
ChrX:153595847 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4440G>A (p.Val1480=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002076618] |
ChrX:154359018 [GRCh38]
ChrX:153587386 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2847C>G (p.Val949=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002131109] |
ChrX:154361767 [GRCh38]
ChrX:153590135 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2367C>T (p.Pro789=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002133970] |
ChrX:154362698 [GRCh38]
ChrX:153591066 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2405-10C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002096298] |
ChrX:154362588 [GRCh38]
ChrX:153590956 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3648G>A (p.Thr1216=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002454431]|Heterotopia, periventricular, X-linked dominant [RCV002112500] |
ChrX:154360147 [GRCh38]
ChrX:153588515 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5417-11C>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002170945] |
ChrX:154354302 [GRCh38]
ChrX:153582670 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4303+13C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002208201] |
ChrX:154359233 [GRCh38]
ChrX:153587601 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.189C>T (p.Arg63=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002208209] |
ChrX:154371057 [GRCh38]
ChrX:153599425 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1824G>T (p.Thr608=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002075162] |
ChrX:154364825 [GRCh38]
ChrX:153593193 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2405-5C>T |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002454583]|Heterotopia, periventricular, X-linked dominant [RCV002213977]|not provided [RCV003146520] |
ChrX:154362583 [GRCh38]
ChrX:153590951 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.4304-25_4304-17del |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV002173885]|not provided [RCV002227295]|not specified [RCV004700675] |
ChrX:154359171..154359179 [GRCh38]
ChrX:153587539..153587547 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.7056T>C (p.Ser2352=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002174430] |
ChrX:154351009 [GRCh38]
ChrX:153579377 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.972C>G (p.Ala324=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002170436] |
ChrX:154366747 [GRCh38]
ChrX:153595115 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4970-18C>A |
single nucleotide variant |
FLNA-related disorder [RCV004734422]|Heterotopia, periventricular, X-linked dominant [RCV002212191]|not specified [RCV003331287] |
ChrX:154355090 [GRCh38]
ChrX:153583458 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7334-20C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002079863] |
ChrX:154349887 [GRCh38]
ChrX:153578255 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1692-12T>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002149507] |
ChrX:154364969 [GRCh38]
ChrX:153593337 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6969G>A (p.Val2323=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002195331] |
ChrX:154351635 [GRCh38]
ChrX:153580003 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1430-13C>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002116185] |
ChrX:154365499 [GRCh38]
ChrX:153593867 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.69G>T (p.Thr23=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002196982] |
ChrX:154371177 [GRCh38]
ChrX:153599545 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3980-15C>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002078852] |
ChrX:154359661 [GRCh38]
ChrX:153588029 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7485C>T (p.Tyr2495=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002095388] |
ChrX:154349716 [GRCh38]
ChrX:153578084 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1698C>T (p.Phe566=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002153323] |
ChrX:154364951 [GRCh38]
ChrX:153593319 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3138C>T (p.Thr1046=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002093375] |
ChrX:154361377 [GRCh38]
ChrX:153589745 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7333+11C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002208812]|not specified [RCV003331285] |
ChrX:154350020 [GRCh38]
ChrX:153578388 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2517G>A (p.Thr839=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002096569] |
ChrX:154362466 [GRCh38]
ChrX:153590834 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6770-13T>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002115378] |
ChrX:154352034 [GRCh38]
ChrX:153580402 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.622+9G>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002080004] |
ChrX:154367833 [GRCh38]
ChrX:153596201 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2814G>A (p.Thr938=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002441294]|Heterotopia, periventricular, X-linked dominant [RCV002216337] |
ChrX:154361991 [GRCh38]
ChrX:153590359 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6081C>G (p.Gly2027=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004822996]|Heterotopia, periventricular, X-linked dominant [RCV002211566] |
ChrX:154353146 [GRCh38]
ChrX:153581514 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6022+7G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002095593] |
ChrX:154353289 [GRCh38]
ChrX:153581657 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6747G>A (p.Glu2249=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002105857] |
ChrX:154352203 [GRCh38]
ChrX:153580571 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2424C>A (p.Ile808=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002196442] |
ChrX:154362559 [GRCh38]
ChrX:153590927 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5687-13C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002089479] |
ChrX:154353740 [GRCh38]
ChrX:153582108 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4945+9G>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002212587] |
ChrX:154357425 [GRCh38]
ChrX:153585793 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7123C>T (p.Leu2375=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003303740]|Heterotopia, periventricular, X-linked dominant [RCV002209441] |
ChrX:154350942 [GRCh38]
ChrX:153579310 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2274C>T (p.Pro758=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002095410] |
ChrX:154364028 [GRCh38]
ChrX:153592396 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5313+6dup |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV002170939] |
ChrX:154354609..154354610 [GRCh38]
ChrX:153582977..153582978 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3300G>A (p.Leu1100=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002071344] |
ChrX:154360495 [GRCh38]
ChrX:153588863 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4945+10C>T |
single nucleotide variant |
FLNA-related disorder [RCV004543713]|Heterotopia, periventricular, X-linked dominant [RCV002173075] |
ChrX:154357424 [GRCh38]
ChrX:153585792 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.858C>A (p.Ala286=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002214768] |
ChrX:154367407 [GRCh38]
ChrX:153595775 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.623-12C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002196624] |
ChrX:154367750 [GRCh38]
ChrX:153596118 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6769+19C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002205460] |
ChrX:154352162 [GRCh38]
ChrX:153580530 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.516C>T (p.Leu172=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002091572] |
ChrX:154367948 [GRCh38]
ChrX:153596316 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.453C>T (p.Ser151=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002337252]|Heterotopia, periventricular, X-linked dominant [RCV002092926] |
ChrX:154368011 [GRCh38]
ChrX:153596379 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.374-12T>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002116578] |
ChrX:154368102 [GRCh38]
ChrX:153596470 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.945G>A (p.Glu315=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002094621] |
ChrX:154366774 [GRCh38]
ChrX:153595142 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5557+12C>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002196766] |
ChrX:154354139 [GRCh38]
ChrX:153582507 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.750C>A (p.Pro250=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002166514] |
ChrX:154367515 [GRCh38]
ChrX:153595883 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4395C>T (p.Ala1465=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002211753] |
ChrX:154359063 [GRCh38]
ChrX:153587431 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6984G>C (p.Pro2328=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002093202] |
ChrX:154351620 [GRCh38]
ChrX:153579988 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2565+12G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002113127] |
ChrX:154362406 [GRCh38]
ChrX:153590774 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6018C>T (p.His2006=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002352815]|Heterotopia, periventricular, X-linked dominant [RCV002213526] |
ChrX:154353300 [GRCh38]
ChrX:153581668 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7095T>C (p.Asp2365=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003307960]|Heterotopia, periventricular, X-linked dominant [RCV002113370] |
ChrX:154350970 [GRCh38]
ChrX:153579338 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3207+9G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002113788] |
ChrX:154361299 [GRCh38]
ChrX:153589667 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1851G>A (p.Ser617=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002407360]|Heterotopia, periventricular, X-linked dominant [RCV002185609]|not provided [RCV003438927] |
ChrX:154364697 [GRCh38]
ChrX:153593065 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7272G>A (p.Gly2424=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004047169]|Heterotopia, periventricular, X-linked dominant [RCV002213681] |
ChrX:154350092 [GRCh38]
ChrX:153578460 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1863C>T (p.Ile621=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003382855]|Heterotopia, periventricular, X-linked dominant [RCV002150886] |
ChrX:154364685 [GRCh38]
ChrX:153593053 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5865C>T (p.Asp1955=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002352903]|Heterotopia, periventricular, X-linked dominant [RCV002121288] |
ChrX:154353453 [GRCh38]
ChrX:153581821 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1188C>T (p.Asn396=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004046514]|Heterotopia, periventricular, X-linked dominant [RCV002123082] |
ChrX:154366348 [GRCh38]
ChrX:153594716 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2280+18G>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002220170] |
ChrX:154364004 [GRCh38]
ChrX:153592372 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3207+18G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002179167] |
ChrX:154361290 [GRCh38]
ChrX:153589658 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.374-15C>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002216693] |
ChrX:154368105 [GRCh38]
ChrX:153596473 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3444C>T (p.Ser1148=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002454545]|Heterotopia, periventricular, X-linked dominant [RCV002154283] |
ChrX:154360351 [GRCh38]
ChrX:153588719 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2826+11C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002220818]|not specified [RCV004587301] |
ChrX:154361968 [GRCh38]
ChrX:153590336 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1430-14C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002179591] |
ChrX:154365500 [GRCh38]
ChrX:153593868 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1429+20C>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002119922] |
ChrX:154366004 [GRCh38]
ChrX:153594372 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.717C>T (p.Pro239=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002158231] |
ChrX:154367644 [GRCh38]
ChrX:153596012 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1065+17G>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002158332] |
ChrX:154366545 [GRCh38]
ChrX:153594913 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6291G>C (p.Leu2097=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002363679]|Heterotopia, periventricular, X-linked dominant [RCV002136342] |
ChrX:154352860 [GRCh38]
ChrX:153581228 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.591C>A (p.Ala197=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002352848]|Heterotopia, periventricular, X-linked dominant [RCV002101017] |
ChrX:154367873 [GRCh38]
ChrX:153596241 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5826C>T (p.His1942=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002217940]|not provided [RCV003438933] |
ChrX:154353588 [GRCh38]
ChrX:153581956 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3979+19del |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV002204859] |
ChrX:154359713 [GRCh38]
ChrX:153588081 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.869-15G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002217959] |
ChrX:154366865 [GRCh38]
ChrX:153595233 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3980-20C>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002101451] |
ChrX:154359666 [GRCh38]
ChrX:153588034 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6246G>A (p.Leu2082=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002361443]|Heterotopia, periventricular, X-linked dominant [RCV002180659] |
ChrX:154352905 [GRCh38]
ChrX:153581273 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6907+14G>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002184424] |
ChrX:154351870 [GRCh38]
ChrX:153580238 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2656+18A>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002218221] |
ChrX:154362224 [GRCh38]
ChrX:153590592 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.3805+15C>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002083031] |
ChrX:154359975 [GRCh38]
ChrX:153588343 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2280+17C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002099655] |
ChrX:154364005 [GRCh38]
ChrX:153592373 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2670C>G (p.Gly890=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002178873] |
ChrX:154362135 [GRCh38]
ChrX:153590503 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6996C>T (p.Ala2332=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002123550] |
ChrX:154351608 [GRCh38]
ChrX:153579976 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1095C>A (p.Ile365=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002454582]|Heterotopia, periventricular, X-linked dominant [RCV002204091] |
ChrX:154366441 [GRCh38]
ChrX:153594809 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1140C>T (p.Asp380=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002454477]|Heterotopia, periventricular, X-linked dominant [RCV002160339] |
ChrX:154366396 [GRCh38]
ChrX:153594764 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1229-14G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002163723] |
ChrX:154366238 [GRCh38]
ChrX:153594606 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5217+13G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002118178]|not specified [RCV004801162] |
ChrX:154354812 [GRCh38]
ChrX:153583180 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.622+11G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002219353] |
ChrX:154367831 [GRCh38]
ChrX:153596199 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6793G>A (p.Glu2265Lys) |
single nucleotide variant |
Heart, malformation of [RCV002243574] |
ChrX:154351998 [GRCh38]
ChrX:153580366 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1568-13C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002099080] |
ChrX:154365272 [GRCh38]
ChrX:153593640 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.954G>A (p.Val318=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002144145] |
ChrX:154366765 [GRCh38]
ChrX:153595133 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2106T>C (p.Gly702=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002180633] |
ChrX:154364289 [GRCh38]
ChrX:153592657 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1117T>A (p.Tyr373Asn) |
single nucleotide variant |
not specified [RCV002223043] |
ChrX:154366419 [GRCh38]
ChrX:153594787 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3858A>G (p.Thr1286=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002141911] |
ChrX:154359853 [GRCh38]
ChrX:153588221 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7887G>A (p.Val2629=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002407390]|Heterotopia, periventricular, X-linked dominant [RCV002082937] |
ChrX:154348906 [GRCh38]
ChrX:153577274 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.693G>A (p.Gln231=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002220175] |
ChrX:154367668 [GRCh38]
ChrX:153596036 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5223G>C (p.Leu1741=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002220180] |
ChrX:154354706 [GRCh38]
ChrX:153583074 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7170G>A (p.Val2390=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002135363] |
ChrX:154350194 [GRCh38]
ChrX:153578562 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6769+15A>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002177140] |
ChrX:154352166 [GRCh38]
ChrX:153580534 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6636C>T (p.Val2212=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002162936] |
ChrX:154352314 [GRCh38]
ChrX:153580682 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7206T>C (p.Ile2402=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002161169] |
ChrX:154350158 [GRCh38]
ChrX:153578526 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2832A>C (p.Pro944=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002083486] |
ChrX:154361782 [GRCh38]
ChrX:153590150 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2244C>T (p.Ser748=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002083488] |
ChrX:154364058 [GRCh38]
ChrX:153592426 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3471C>T (p.Cys1157=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002081592] |
ChrX:154360324 [GRCh38]
ChrX:153588692 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2657-11G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002102081] |
ChrX:154362159 [GRCh38]
ChrX:153590527 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2405-19G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002177644] |
ChrX:154362597 [GRCh38]
ChrX:153590965 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2721G>T (p.Leu907=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004822999]|Heterotopia, periventricular, X-linked dominant [RCV002217067] |
ChrX:154362084 [GRCh38]
ChrX:153590452 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1691+14G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002219135] |
ChrX:154365122 [GRCh38]
ChrX:153593490 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7334-4C>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002202237] |
ChrX:154349871 [GRCh38]
ChrX:153578239 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5687-6C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002103987] |
ChrX:154353733 [GRCh38]
ChrX:153582101 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1692-11C>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002219289] |
ChrX:154364968 [GRCh38]
ChrX:153593336 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.374-8A>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002120338] |
ChrX:154368098 [GRCh38]
ChrX:153596466 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1620C>T (p.Phe540=) |
single nucleotide variant |
FLNA-related disorder [RCV004538798]|Familial thoracic aortic aneurysm and aortic dissection [RCV002398173]|Heterotopia, periventricular, X-linked dominant [RCV002178066] |
ChrX:154365207 [GRCh38]
ChrX:153593575 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7644G>A (p.Gly2548=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002198683] |
ChrX:154349474 [GRCh38]
ChrX:153577842 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4756-15G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002136355] |
ChrX:154357638 [GRCh38]
ChrX:153586006 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1683C>T (p.Ile561=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004617005]|Heterotopia, periventricular, X-linked dominant [RCV002118421] |
ChrX:154365144 [GRCh38]
ChrX:153593512 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4008C>T (p.Asp1336=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002161942] |
ChrX:154359618 [GRCh38]
ChrX:153587986 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3120C>T (p.Pro1040=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002219709] |
ChrX:154361395 [GRCh38]
ChrX:153589763 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6345C>T (p.Ile2115=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004823013]|Heterotopia, periventricular, X-linked dominant [RCV002176413] |
ChrX:154352806 [GRCh38]
ChrX:153581174 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3327G>A (p.Glu1109=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002102950] |
ChrX:154360468 [GRCh38]
ChrX:153588836 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1065+15del |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV002120930] |
ChrX:154366547 [GRCh38]
ChrX:153594915 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2137-13A>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002099514] |
ChrX:154364178 [GRCh38]
ChrX:153592546 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6435C>T (p.Thr2145=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002218202] |
ChrX:154352620 [GRCh38]
ChrX:153580988 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6186C>T (p.Thr2062=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002155951] |
ChrX:154353041 [GRCh38]
ChrX:153581409 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2657-12T>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002179144] |
ChrX:154362160 [GRCh38]
ChrX:153590528 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.708G>A (p.Leu236=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002137223] |
ChrX:154367653 [GRCh38]
ChrX:153596021 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7677G>A (p.Lys2559=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002156185] |
ChrX:154349441 [GRCh38]
ChrX:153577809 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5534G>A (p.Arg1845His) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003307964]|Heterotopia, periventricular, X-linked dominant [RCV002122921] |
ChrX:154354174 [GRCh38]
ChrX:153582542 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.987+12T>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002218683] |
ChrX:154366720 [GRCh38]
ChrX:153595088 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6379+20G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002081713] |
ChrX:154352752 [GRCh38]
ChrX:153581120 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1430-15C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002162042] |
ChrX:154365501 [GRCh38]
ChrX:153593869 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7023+19C>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002198068] |
ChrX:154351562 [GRCh38]
ChrX:153579930 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2391C>T (p.Ala797=) |
single nucleotide variant |
FLNA-related disorder [RCV004531344]|Familial thoracic aortic aneurysm and aortic dissection [RCV004045737]|Heterotopia, periventricular, X-linked dominant [RCV002083680]|not provided [RCV003456516] |
ChrX:154362674 [GRCh38]
ChrX:153591042 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.241T>C (p.Leu81=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003161664]|Heterotopia, periventricular, X-linked dominant [RCV002183628] |
ChrX:154371005 [GRCh38]
ChrX:153599373 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7756+20G>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002118146] |
ChrX:154349342 [GRCh38]
ChrX:153577710 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.5724A>G (p.Ala1908=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002219059] |
ChrX:154353690 [GRCh38]
ChrX:153582058 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3615C>T (p.Ala1205=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002454407]|Heterotopia, periventricular, X-linked dominant [RCV002219082] |
ChrX:154360180 [GRCh38]
ChrX:153588548 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7334-12C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002082201] |
ChrX:154349879 [GRCh38]
ChrX:153578247 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6660C>T (p.His2220=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002159933] |
ChrX:154352290 [GRCh38]
ChrX:153580658 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4475-11G>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002141242] |
ChrX:154358579 [GRCh38]
ChrX:153586947 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2157G>A (p.Val719=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004617010]|Heterotopia, periventricular, X-linked dominant [RCV002198849] |
ChrX:154364145 [GRCh38]
ChrX:153592513 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1228+16C>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002082465] |
ChrX:154366292 [GRCh38]
ChrX:153594660 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5183G>T (p.Gly1728Val) |
single nucleotide variant |
Melnick-Needles syndrome [RCV002226855] |
ChrX:154354859 [GRCh38]
ChrX:153583227 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.623-7G>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002160928] |
ChrX:154367745 [GRCh38]
ChrX:153596113 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7333+12G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002124270] |
ChrX:154350019 [GRCh38]
ChrX:153578387 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2523G>A (p.Arg841=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002082733] |
ChrX:154362460 [GRCh38]
ChrX:153590828 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4756-19C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002083063] |
ChrX:154357642 [GRCh38]
ChrX:153586010 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.915T>C (p.Thr305=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002161319]|not provided [RCV003438975] |
ChrX:154366804 [GRCh38]
ChrX:153595172 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1743C>A (p.Ala581=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002398155]|Heterotopia, periventricular, X-linked dominant [RCV002182486] |
ChrX:154364906 [GRCh38]
ChrX:153593274 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3336C>T (p.Leu1112=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004045061]|Heterotopia, periventricular, X-linked dominant [RCV002182512] |
ChrX:154360459 [GRCh38]
ChrX:153588827 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.375C>T (p.Asp125=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002202784] |
ChrX:154368089 [GRCh38]
ChrX:153596457 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1952G>A (p.Ser651Asn) |
single nucleotide variant |
not provided [RCV004790926] |
ChrX:154364596 [GRCh38]
ChrX:153592964 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3244G>A (p.Ala1082Thr) |
single nucleotide variant |
not provided [RCV004777201] |
ChrX:154360551 [GRCh38]
ChrX:153588919 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.622G>T (p.Gly208Cys) |
single nucleotide variant |
Periventricular nodular heterotopia [RCV004788215] |
ChrX:154367842 [GRCh38]
ChrX:153596210 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.2403G>C (p.Gln801His) |
single nucleotide variant |
not provided [RCV003109885] |
ChrX:154362662 [GRCh38]
ChrX:153591030 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5170G>T (p.Val1724Leu) |
single nucleotide variant |
not provided [RCV003109938] |
ChrX:154354872 [GRCh38]
ChrX:153583240 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3242G>T (p.Ser1081Ile) |
single nucleotide variant |
not provided [RCV004791732]|not specified [RCV004783503] |
ChrX:154360553 [GRCh38]
ChrX:153588921 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6907+3A>C |
single nucleotide variant |
not provided [RCV004777228] |
ChrX:154351881 [GRCh38]
ChrX:153580249 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6034G>A (p.Val2012Met) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003112366] |
ChrX:154353193 [GRCh38]
ChrX:153581561 [GRCh37]
ChrX:Xq28 |
benign |
| NC_000023.10:g.(?_153195397)_(153642547_?)dup |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV003113631] |
ChrX:153195397..153642547 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.374-17C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003115179] |
ChrX:154368107 [GRCh38]
ChrX:153596475 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.2665C>T (p.Leu889Phe) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003112532] |
ChrX:154362140 [GRCh38]
ChrX:153590508 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.7511C>T (p.Pro2504Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003115445] |
ChrX:154349690 [GRCh38]
ChrX:153578058 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2637C>T (p.Gly879=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003112675] |
ChrX:154362261 [GRCh38]
ChrX:153590629 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1065+17G>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003112062] |
ChrX:154366545 [GRCh38]
ChrX:153594913 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4334T>G (p.Val1445Gly) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003115015] |
ChrX:154359124 [GRCh38]
ChrX:153587492 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2281-13del |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV003117326] |
ChrX:154362797 [GRCh38]
ChrX:153591165 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.4706C>A (p.Thr1569Asn) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003118532] |
ChrX:154358248 [GRCh38]
ChrX:153586616 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7318G>A (p.Glu2440Lys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003778668]|not provided [RCV003123206] |
ChrX:154350046 [GRCh38]
ChrX:153578414 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NC_000023.10:g.(?_153357622)_(153664237_?)dup |
duplication |
X-linked Emery-Dreifuss muscular dystrophy [RCV003119323] |
ChrX:153357622..153664237 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4599-3C>T |
single nucleotide variant |
not provided [RCV003120265] |
ChrX:154358358 [GRCh38]
ChrX:153586726 [GRCh37]
ChrX:Xq28 |
likely benign |
| NC_000023.10:g.(?_153001546)_(154563736_?)dup |
duplication |
Adrenoleukodystrophy [RCV003119108] |
ChrX:153001546..154563736 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2911C>T (p.Leu971Phe) |
single nucleotide variant |
not provided [RCV004784436] |
ChrX:154361703 [GRCh38]
ChrX:153590071 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4756-12T>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003118890] |
ChrX:154357635 [GRCh38]
ChrX:153586003 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1228+2_1228+3dup |
duplication |
not provided [RCV003123158] |
ChrX:154366304..154366305 [GRCh38]
ChrX:153594672..153594673 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5425C>T (p.Arg1809Trp) |
single nucleotide variant |
not provided [RCV004790923] |
ChrX:154354283 [GRCh38]
ChrX:153582651 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2294C>T (p.Ala765Val) |
single nucleotide variant |
not provided [RCV004776670] |
ChrX:154362771 [GRCh38]
ChrX:153591139 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3758T>A (p.Val1253Glu) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV003148205] |
ChrX:154360037 [GRCh38]
ChrX:153588405 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1529C>A (p.Ala510Asp) |
single nucleotide variant |
not provided [RCV003156647] |
ChrX:154365387 [GRCh38]
ChrX:153593755 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1793T>G (p.Val598Gly) |
single nucleotide variant |
not provided [RCV003144006] |
ChrX:154364856 [GRCh38]
ChrX:153593224 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4889C>T (p.Ser1630Phe) |
single nucleotide variant |
not provided [RCV003144008] |
ChrX:154357490 [GRCh38]
ChrX:153585858 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1111G>A (p.Glu371Lys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003093953]|not provided [RCV002244569] |
ChrX:154366425 [GRCh38]
ChrX:153594793 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.5143C>T (p.Pro1715Ser) |
single nucleotide variant |
FG syndrome 2 [RCV002273184] |
ChrX:154354899 [GRCh38]
ChrX:153583267 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3487G>C (p.Val1163Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003774701]|not specified [RCV002247838] |
ChrX:154360308 [GRCh38]
ChrX:153588676 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5989dup (p.Cys1997fs) |
duplication |
Macrothrombocytopenia [RCV002245474] |
ChrX:154353328..154353329 [GRCh38]
ChrX:153581696..153581697 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| GRCh37/hg19 Xq27.1-28(chrX:139586015-154774957) |
copy number gain |
Syndromic X-linked intellectual disability Lubs type [RCV003214133] |
ChrX:139586015..154774957 [GRCh37]
ChrX:Xq27.1-28 |
pathogenic |
| NM_001110556.2(FLNA):c.2137-1G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002251116] |
ChrX:154364166 [GRCh38]
ChrX:153592534 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.158G>A (p.Cys53Tyr) |
single nucleotide variant |
See cases [RCV002252414] |
ChrX:154371088 [GRCh38]
ChrX:153599456 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6769+4G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003774742]|See cases [RCV002253007] |
ChrX:154352177 [GRCh38]
ChrX:153580545 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5861-2A>G |
single nucleotide variant |
not provided [RCV002254454] |
ChrX:154353459 [GRCh38]
ChrX:153581827 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.7168G>A (p.Val2390Met) |
single nucleotide variant |
not provided [RCV003144011] |
ChrX:154350196 [GRCh38]
ChrX:153578564 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2904C>A (p.Ser968Arg) |
single nucleotide variant |
not provided [RCV003144012] |
ChrX:154361710 [GRCh38]
ChrX:153590078 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) |
copy number gain |
46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] |
ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_001110556.2(FLNA):c.3473T>C (p.Phe1158Ser) |
single nucleotide variant |
not provided [RCV002254455] |
ChrX:154360322 [GRCh38]
ChrX:153588690 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6436C>A (p.Arg2146Ser) |
single nucleotide variant |
not provided [RCV003234268] |
ChrX:154352619 [GRCh38]
ChrX:153580987 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1504G>A (p.Asp502Asn) |
single nucleotide variant |
not provided [RCV003230109] |
ChrX:154365412 [GRCh38]
ChrX:153593780 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) |
copy number loss |
Turner syndrome [RCV002280668] |
ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq28(chrX:153529891-155114697)x3 |
copy number gain |
not provided [RCV002265532] |
ChrX:153529891..155114697 [GRCh37]
ChrX:Xq28 |
not provided |
| NM_001110556.2(FLNA):c.7775T>G (p.Val2592Gly) |
single nucleotide variant |
Seizure [RCV002275906] |
ChrX:154349018 [GRCh38]
ChrX:153577386 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5536del (p.Tyr1846fs) |
deletion |
Abnormal cerebral morphology [RCV002275907] |
ChrX:154354172 [GRCh38]
ChrX:153582540 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.512G>A (p.Arg171Lys) |
single nucleotide variant |
not provided [RCV002274716] |
ChrX:154367952 [GRCh38]
ChrX:153596320 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3870G>C (p.Gly1290=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002366265]|Heterotopia, periventricular, X-linked dominant [RCV003094413] |
ChrX:154359841 [GRCh38]
ChrX:153588209 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6167G>A (p.Gly2056Asp) |
single nucleotide variant |
not provided [RCV002265150] |
ChrX:154353060 [GRCh38]
ChrX:153581428 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6222T>C (p.Asp2074=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002366421]|Heterotopia, periventricular, X-linked dominant [RCV003776228] |
ChrX:154353005 [GRCh38]
ChrX:153581373 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5488G>C (p.Val1830Leu) |
single nucleotide variant |
Oto-palato-digital syndrome, type I [RCV002287233] |
ChrX:154354220 [GRCh38]
ChrX:153582588 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7847T>C (p.Val2616Ala) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003096195]|not provided [RCV002275791] |
ChrX:154348946 [GRCh38]
ChrX:153577314 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5849C>T (p.Ala1950Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004047558]|Heterotopia, periventricular, X-linked dominant [RCV003101609]|not provided [RCV002281300] |
ChrX:154353565 [GRCh38]
ChrX:153581933 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 |
copy number loss |
See cases [RCV002286357] |
ChrX:11522765..155233731 [GRCh37]
ChrX:Xp22.2-q28 |
pathogenic |
| GRCh37/hg19 Xq27.3-28(chrX:142401540-155233731)x1 |
copy number loss |
See cases [RCV002292203] |
ChrX:142401540..155233731 [GRCh37]
ChrX:Xq27.3-28 |
pathogenic |
| NM_001110556.2(FLNA):c.1708G>T (p.Val570Leu) |
single nucleotide variant |
not provided [RCV002281339] |
ChrX:154364941 [GRCh38]
ChrX:153593309 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7438C>T (p.Pro2480Ser) |
single nucleotide variant |
not provided [RCV002283319] |
ChrX:154349763 [GRCh38]
ChrX:153578131 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3751C>T (p.Pro1251Ser) |
single nucleotide variant |
not provided [RCV002267368] |
ChrX:154360044 [GRCh38]
ChrX:153588412 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6667G>T (p.Gly2223Trp) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV002273120] |
ChrX:154352283 [GRCh38]
ChrX:153580651 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2401_2402insCT (p.Gln801fs) |
insertion |
Heterotopia, periventricular, X-linked dominant [RCV002267691] |
ChrX:154362663..154362664 [GRCh38]
ChrX:153591031..153591032 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.2887G>A (p.Val963Met) |
single nucleotide variant |
not provided [RCV002272080] |
ChrX:154361727 [GRCh38]
ChrX:153590095 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5123T>C (p.Phe1708Ser) |
single nucleotide variant |
not provided [RCV002278888] |
ChrX:154354919 [GRCh38]
ChrX:153583287 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4937C>G (p.Thr1646Ser) |
single nucleotide variant |
not provided [RCV002288114] |
ChrX:154357442 [GRCh38]
ChrX:153585810 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4730A>G (p.Glu1577Gly) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV002488660]|not provided [RCV002265373] |
ChrX:154358224 [GRCh38]
ChrX:153586592 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2186G>A (p.Gly729Asp) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003095887]|not provided [RCV002261667] |
ChrX:154364116 [GRCh38]
ChrX:153592484 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.3364T>G (p.Cys1122Gly) |
single nucleotide variant |
Oto-palato-digital syndrome, type I [RCV002287257] |
ChrX:154360431 [GRCh38]
ChrX:153588799 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.372C>T (p.Ile124=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002349168] |
ChrX:154370874 [GRCh38]
ChrX:153599242 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3619G>A (p.Val1207Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002452277] |
ChrX:154360176 [GRCh38]
ChrX:153588544 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4438G>A (p.Val1480Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004047628]|Heterotopia, periventricular, X-linked dominant [RCV003774980]|not provided [RCV002293711] |
ChrX:154359020 [GRCh38]
ChrX:153587388 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6424G>A (p.Glu2142Lys) |
single nucleotide variant |
not provided [RCV003231813] |
ChrX:154352631 [GRCh38]
ChrX:153580999 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7442A>G (p.Glu2481Gly) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002384951] |
ChrX:154349759 [GRCh38]
ChrX:153578127 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.339C>T (p.Phe113=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002451988] |
ChrX:154370907 [GRCh38]
ChrX:153599275 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3660C>T (p.Thr1220=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002452564]|Heterotopia, periventricular, X-linked dominant [RCV003775695] |
ChrX:154360135 [GRCh38]
ChrX:153588503 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.331C>G (p.Leu111Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002454752] |
ChrX:154370915 [GRCh38]
ChrX:153599283 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7136A>C (p.Tyr2379Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002367416] |
ChrX:154350929 [GRCh38]
ChrX:153579297 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5129TCT[1] (p.Phe1711del) |
microsatellite |
Familial thoracic aortic aneurysm and aortic dissection [RCV002351493] |
ChrX:154354908..154354910 [GRCh38]
ChrX:153583276..153583278 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5565C>G (p.Pro1855=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002351890] |
ChrX:154354036 [GRCh38]
ChrX:153582404 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1459G>A (p.Gly487Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002296953] |
ChrX:154365457 [GRCh38]
ChrX:153593825 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3015A>G (p.Ala1005=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002435807] |
ChrX:154361500 [GRCh38]
ChrX:153589868 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7173C>T (p.Arg2391=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002367513] |
ChrX:154350191 [GRCh38]
ChrX:153578559 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5100G>A (p.Val1700=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002351456]|Heterotopia, periventricular, X-linked dominant [RCV003776026] |
ChrX:154354942 [GRCh38]
ChrX:153583310 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| GRCh37/hg19 Xq28(chrX:153575641-153645284)x2 |
copy number gain |
not provided [RCV002291536] |
ChrX:153575641..153645284 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.62T>C (p.Val21Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002368787] |
ChrX:154371184 [GRCh38]
ChrX:153599552 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6708G>A (p.Gly2236=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002367031]|Heterotopia, periventricular, X-linked dominant [RCV003776295] |
ChrX:154352242 [GRCh38]
ChrX:153580610 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.6369G>A (p.Gln2123=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002368943] |
ChrX:154352782 [GRCh38]
ChrX:153581150 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6375G>C (p.Val2125=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002368987]|Heterotopia, periventricular, X-linked dominant [RCV003776243] |
ChrX:154352776 [GRCh38]
ChrX:153581144 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5550C>T (p.His1850=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002351786] |
ChrX:154354158 [GRCh38]
ChrX:153582526 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1125T>C (p.Asp375=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002436018]|Heterotopia, periventricular, X-linked dominant [RCV003775448] |
ChrX:154366411 [GRCh38]
ChrX:153594779 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5505C>T (p.Ser1835=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002349855]|not provided [RCV003439002]|not specified [RCV003324028] |
ChrX:154354203 [GRCh38]
ChrX:153582571 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.286C>A (p.Arg96=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002437656] |
ChrX:154370960 [GRCh38]
ChrX:153599328 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6393T>C (p.Ser2131=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002369061] |
ChrX:154352662 [GRCh38]
ChrX:153581030 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.984G>A (p.Glu328=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002387294] |
ChrX:154366735 [GRCh38]
ChrX:153595103 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6306C>T (p.Cys2102=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002368697]|Heterotopia, periventricular, X-linked dominant [RCV003776236] |
ChrX:154352845 [GRCh38]
ChrX:153581213 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.6404C>T (p.Thr2135Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002297773] |
ChrX:154352651 [GRCh38]
ChrX:153581019 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.79G>A (p.Glu27Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002419150] |
ChrX:154371167 [GRCh38]
ChrX:153599535 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6264C>T (p.Ser2088=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002366621] |
ChrX:154352887 [GRCh38]
ChrX:153581255 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5529C>T (p.Asp1843=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002351694] |
ChrX:154354179 [GRCh38]
ChrX:153582547 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5055G>C (p.Thr1685=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002351406] |
ChrX:154354987 [GRCh38]
ChrX:153583355 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1119C>T (p.Tyr373=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002437623]|Heterotopia, periventricular, X-linked dominant [RCV003102801] |
ChrX:154366417 [GRCh38]
ChrX:153594785 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1953C>T (p.Ser651=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002421575]|Heterotopia, periventricular, X-linked dominant [RCV003097380] |
ChrX:154364595 [GRCh38]
ChrX:153592963 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6754G>A (p.Glu2252Lys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003778893]|not provided [RCV003149180] |
ChrX:154352196 [GRCh38]
ChrX:153580564 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7930G>A (p.Val2644Ile) |
single nucleotide variant |
Developmental delay [RCV003154293] |
ChrX:154348863 [GRCh38]
ChrX:153577231 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1411A>C (p.Thr471Pro) |
single nucleotide variant |
not provided [RCV003149227] |
ChrX:154366042 [GRCh38]
ChrX:153594410 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2588G>T (p.Arg863Leu) |
single nucleotide variant |
not provided [RCV003152077] |
ChrX:154362310 [GRCh38]
ChrX:153590678 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6436C>T (p.Arg2146Cys) |
single nucleotide variant |
not provided [RCV003144007] |
ChrX:154352619 [GRCh38]
ChrX:153580987 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1384G>A (p.Gly462Ser) |
single nucleotide variant |
not provided [RCV002474246] |
ChrX:154366069 [GRCh38]
ChrX:153594437 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| GRCh37/hg19 Xq28(chrX:153282944-153681801)x3 |
copy number gain |
not provided [RCV002473744] |
ChrX:153282944..153681801 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.5734T>G (p.Cys1912Gly) |
single nucleotide variant |
FLNA-related disorder [RCV004725247]|Familial thoracic aortic aneurysm and aortic dissection [RCV002347643]|Heterotopia, periventricular, X-linked dominant [RCV003096848] |
ChrX:154353680 [GRCh38]
ChrX:153582048 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4314C>T (p.Phe1438=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002331991] |
ChrX:154359144 [GRCh38]
ChrX:153587512 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1883A>T (p.Asp628Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002415342] |
ChrX:154364665 [GRCh38]
ChrX:153593033 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2189C>T (p.Thr730Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002681726] |
ChrX:154364113 [GRCh38]
ChrX:153592481 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7935G>A (p.Val2645=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002416697] |
ChrX:154348858 [GRCh38]
ChrX:153577226 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7938G>T (p.Val2646=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002416701] |
ChrX:154348855 [GRCh38]
ChrX:153577223 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7941C>T (p.Pro2647=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002416705] |
ChrX:154348852 [GRCh38]
ChrX:153577220 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7262G>A (p.Gly2421Glu) |
single nucleotide variant |
not provided [RCV002464751] |
ChrX:154350102 [GRCh38]
ChrX:153578470 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.64G>C (p.Asp22His) |
single nucleotide variant |
not provided [RCV002469780] |
ChrX:154371182 [GRCh38]
ChrX:153599550 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4592C>G (p.Pro1531Arg) |
single nucleotide variant |
not provided [RCV002464809] |
ChrX:154358451 [GRCh38]
ChrX:153586819 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7913C>T (p.Pro2638Leu) |
single nucleotide variant |
Frontometaphyseal dysplasia 1 [RCV002466917] |
ChrX:154348880 [GRCh38]
ChrX:153577248 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5066G>A (p.Cys1689Tyr) |
single nucleotide variant |
FLNA-related disorder [RCV004534109]|not provided [RCV002473416] |
ChrX:154354976 [GRCh38]
ChrX:153583344 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| GRCh37/hg19 Xq25-28(chrX:124749464-155233731)x1 |
copy number loss |
not provided [RCV002474567] |
ChrX:124749464..155233731 [GRCh37]
ChrX:Xq25-28 |
pathogenic |
| NM_001110556.2(FLNA):c.182G>C (p.Ser61Thr) |
single nucleotide variant |
not provided [RCV002467320] |
ChrX:154371064 [GRCh38]
ChrX:153599432 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6571G>A (p.Val2191Met) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003778874]|not provided [RCV003144010] |
ChrX:154352379 [GRCh38]
ChrX:153580747 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.2561A>G (p.Asp854Gly) |
single nucleotide variant |
not provided [RCV002474023] |
ChrX:154362422 [GRCh38]
ChrX:153590790 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5363_5369del (p.Leu1788fs) |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV002468712] |
ChrX:154354428..154354434 [GRCh38]
ChrX:153582796..153582802 [GRCh37]
ChrX:Xq28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) |
copy number gain |
Klinefelter syndrome [RCV003236730] |
ChrX:200855..155240074 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_001110556.2(FLNA):c.1527C>T (p.Gly509=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002392541]|Heterotopia, periventricular, X-linked dominant [RCV003774369] |
ChrX:154365389 [GRCh38]
ChrX:153593757 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7205_7208dup (p.Asp2403_Val2404insTer) |
duplication |
Familial thoracic aortic aneurysm and aortic dissection [RCV002370738] |
ChrX:154350155..154350156 [GRCh38]
ChrX:153578523..153578524 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.3923A>C (p.Tyr1308Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002304191] |
ChrX:154359788 [GRCh38]
ChrX:153588156 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2447G>C (p.Gly816Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002430678] |
ChrX:154362536 [GRCh38]
ChrX:153590904 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3474T>C (p.Phe1158=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002457308] |
ChrX:154360321 [GRCh38]
ChrX:153588689 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2229C>T (p.His743=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002428182]|Heterotopia, periventricular, X-linked dominant [RCV003101145] |
ChrX:154364073 [GRCh38]
ChrX:153592441 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6298G>A (p.Gly2100Arg) |
single nucleotide variant |
not provided [RCV002308789] |
ChrX:154352853 [GRCh38]
ChrX:153581221 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.78C>T (p.Ala26=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002416635]|Heterotopia, periventricular, X-linked dominant [RCV003099779] |
ChrX:154371168 [GRCh38]
ChrX:153599536 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4083C>T (p.His1361=) |
single nucleotide variant |
FLNA-related disorder [RCV004534057]|Familial thoracic aortic aneurysm and aortic dissection [RCV002323138]|Heterotopia, periventricular, X-linked dominant [RCV003775810] |
ChrX:154359543 [GRCh38]
ChrX:153587911 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.4773G>A (p.Pro1591=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002337743] |
ChrX:154357606 [GRCh38]
ChrX:153585974 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6180C>T (p.Gly2060=) |
single nucleotide variant |
FLNA-related disorder [RCV004545302]|Familial thoracic aortic aneurysm and aortic dissection [RCV002360453] |
ChrX:154353047 [GRCh38]
ChrX:153581415 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7236T>C (p.Pro2412=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002370933]|Heterotopia, periventricular, X-linked dominant [RCV003776366] |
ChrX:154350128 [GRCh38]
ChrX:153578496 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1566C>T (p.Pro522=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002405527] |
ChrX:154365350 [GRCh38]
ChrX:153593718 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.75C>T (p.Asp25=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002394228] |
ChrX:154371171 [GRCh38]
ChrX:153599539 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1161A>G (p.Gln387=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002375586] |
ChrX:154366375 [GRCh38]
ChrX:153594743 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6102C>A (p.Pro2034=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002359967] |
ChrX:154353125 [GRCh38]
ChrX:153581493 [GRCh37]
ChrX:Xq28 |
likely benign |
| GRCh37/hg19 Xq28(chrX:153560562-153864851)x3 |
copy number gain |
Septo-optic dysplasia sequence [RCV002305872] |
ChrX:153560562..153864851 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.153C>G (p.Arg51=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002403120] |
ChrX:154371093 [GRCh38]
ChrX:153599461 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6498C>G (p.Ile2166Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002356182] |
ChrX:154352557 [GRCh38]
ChrX:153580925 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1635G>A (p.Met545Ile) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002401361]|Heterotopia, periventricular, X-linked dominant [RCV003774422] |
ChrX:154365192 [GRCh38]
ChrX:153593560 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.480T>C (p.Asp160=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002330740] |
ChrX:154367984 [GRCh38]
ChrX:153596352 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.900G>T (p.Lys300Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002376395]|not provided [RCV003146553] |
ChrX:154366819 [GRCh38]
ChrX:153595187 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.468C>T (p.Asp156=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002330558]|Heterotopia, periventricular, X-linked dominant [RCV003096422]|not provided [RCV003883810]|not specified [RCV003324026] |
ChrX:154367996 [GRCh38]
ChrX:153596364 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6234T>C (p.Gly2078=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002353875]|Heterotopia, periventricular, X-linked dominant [RCV003776229] |
ChrX:154352917 [GRCh38]
ChrX:153581285 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3144C>T (p.Asp1048=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002320750]|Heterotopia, periventricular, X-linked dominant [RCV003102313] |
ChrX:154361371 [GRCh38]
ChrX:153589739 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.6546G>A (p.Ser2182=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002364251]|Heterotopia, periventricular, X-linked dominant [RCV003098282] |
ChrX:154352404 [GRCh38]
ChrX:153580772 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.4520A>G (p.Gln1507Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002339997]|Heterotopia, periventricular, X-linked dominant [RCV003775912] |
ChrX:154358523 [GRCh38]
ChrX:153586891 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7776G>A (p.Val2592=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002409685] |
ChrX:154349017 [GRCh38]
ChrX:153577385 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7622C>T (p.Ala2541Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002394175]|Heterotopia, periventricular, X-linked dominant [RCV003099692] |
ChrX:154349496 [GRCh38]
ChrX:153577864 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.3941A>G (p.Asp1314Gly) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002295061] |
ChrX:154359770 [GRCh38]
ChrX:153588138 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2775C>T (p.Ile925=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002439662]|Heterotopia, periventricular, X-linked dominant [RCV003102199] |
ChrX:154362030 [GRCh38]
ChrX:153590398 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2360A>G (p.His787Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002448536] |
ChrX:154362705 [GRCh38]
ChrX:153591073 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.312T>C (p.Leu104=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002320583] |
ChrX:154370934 [GRCh38]
ChrX:153599302 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1516T>C (p.Tyr506His) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002392329] |
ChrX:154365400 [GRCh38]
ChrX:153593768 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5169T>C (p.Cys1723=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002338223] |
ChrX:154354873 [GRCh38]
ChrX:153583241 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.188G>T (p.Arg63Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002408005]|not provided [RCV004763407] |
ChrX:154371058 [GRCh38]
ChrX:153599426 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.691C>T (p.Gln231Ter) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002362370] |
ChrX:154367670 [GRCh38]
ChrX:153596038 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.5937T>C (p.Asp1979=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002355765] |
ChrX:154353381 [GRCh38]
ChrX:153581749 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4860C>A (p.Ile1620=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002340352]|Heterotopia, periventricular, X-linked dominant [RCV003775979] |
ChrX:154357519 [GRCh38]
ChrX:153585887 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.294T>C (p.Thr98=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002441862] |
ChrX:154370952 [GRCh38]
ChrX:153599320 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1653C>T (p.Ile551=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002403690]|Heterotopia, periventricular, X-linked dominant [RCV003774441] |
ChrX:154365174 [GRCh38]
ChrX:153593542 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2028G>T (p.Lys676Asn) |
single nucleotide variant |
not provided [RCV002308805] |
ChrX:154364367 [GRCh38]
ChrX:153592735 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.303A>G (p.Gln101=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002443969] |
ChrX:154370943 [GRCh38]
ChrX:153599311 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7032G>A (p.Gly2344=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002364809] |
ChrX:154351033 [GRCh38]
ChrX:153579401 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.120G>A (p.Pro40=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002353206] |
ChrX:154371126 [GRCh38]
ChrX:153599494 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2754T>C (p.Asp918=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002439409] |
ChrX:154362051 [GRCh38]
ChrX:153590419 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7503C>T (p.Tyr2501=) |
single nucleotide variant |
FLNA-related disorder [RCV004534072]|Familial thoracic aortic aneurysm and aortic dissection [RCV002391485]|Heterotopia, periventricular, X-linked dominant [RCV003776394] |
ChrX:154349698 [GRCh38]
ChrX:153578066 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1769T>G (p.Val590Gly) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002401784] |
ChrX:154364880 [GRCh38]
ChrX:153593248 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2203T>C (p.Tyr735His) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002425774]|Heterotopia, periventricular, X-linked dominant [RCV003775137] |
ChrX:154364099 [GRCh38]
ChrX:153592467 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3063G>A (p.Glu1021=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002444242] |
ChrX:154361452 [GRCh38]
ChrX:153589820 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2171A>G (p.Lys724Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002432741]|Heterotopia, periventricular, X-linked dominant [RCV003098686] |
ChrX:154364131 [GRCh38]
ChrX:153592499 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.4525G>T (p.Val1509Phe) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002340018] |
ChrX:154358518 [GRCh38]
ChrX:153586886 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1053G>A (p.Thr351=) |
single nucleotide variant |
FLNA-related disorder [RCV004545319]|Familial thoracic aortic aneurysm and aortic dissection [RCV002414533]|Heterotopia, periventricular, X-linked dominant [RCV003774456] |
ChrX:154366574 [GRCh38]
ChrX:153594942 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.291C>T (p.Pro97=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002439932] |
ChrX:154370955 [GRCh38]
ChrX:153599323 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1797G>A (p.Val599=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002407811] |
ChrX:154364852 [GRCh38]
ChrX:153593220 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7860C>A (p.Leu2620=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002412136] |
ChrX:154348933 [GRCh38]
ChrX:153577301 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5391C>T (p.Phe1797=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002347049] |
ChrX:154354406 [GRCh38]
ChrX:153582774 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6648C>T (p.Tyr2216=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002375896] |
ChrX:154352302 [GRCh38]
ChrX:153580670 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7599G>A (p.Val2533=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002394095]|Heterotopia, periventricular, X-linked dominant [RCV003099687] |
ChrX:154349519 [GRCh38]
ChrX:153577887 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2493T>A (p.Asn831Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002430977] |
ChrX:154362490 [GRCh38]
ChrX:153590858 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7101G>A (p.Lys2367=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002365116] |
ChrX:154350964 [GRCh38]
ChrX:153579332 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6036G>A (p.Val2012=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002358069]|Heterotopia, periventricular, X-linked dominant [RCV003098102]|not provided [RCV004546719] |
ChrX:154353191 [GRCh38]
ChrX:153581559 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1019G>C (p.Arg340Pro) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002361873] |
ChrX:154366608 [GRCh38]
ChrX:153594976 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4715C>G (p.Ala1572Gly) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002298423] |
ChrX:154358239 [GRCh38]
ChrX:153586607 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6585C>G (p.Asn2195Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002364419] |
ChrX:154352365 [GRCh38]
ChrX:153580733 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7875G>A (p.Glu2625=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002412213] |
ChrX:154348918 [GRCh38]
ChrX:153577286 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4612A>G (p.Lys1538Glu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002342471] |
ChrX:154358342 [GRCh38]
ChrX:153586710 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5395delinsTTG (p.Ile1799fs) |
indel |
Familial thoracic aortic aneurysm and aortic dissection [RCV002347065] |
ChrX:154354402 [GRCh38]
ChrX:153582770 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.4900G>A (p.Val1634Met) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002296482] |
ChrX:154357479 [GRCh38]
ChrX:153585847 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3212A>C (p.Lys1071Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002445433] |
ChrX:154360583 [GRCh38]
ChrX:153588951 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.144T>G (p.Thr48=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002394580]|Heterotopia, periventricular, X-linked dominant [RCV003103704] |
ChrX:154371102 [GRCh38]
ChrX:153599470 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2820C>A (p.Val940=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002441817] |
ChrX:154361985 [GRCh38]
ChrX:153590353 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5366G>A (p.Arg1789Lys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003775009]|not provided [RCV002306099] |
ChrX:154354431 [GRCh38]
ChrX:153582799 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7014T>C (p.Ser2338=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002364685]|Heterotopia, periventricular, X-linked dominant [RCV003776330] |
ChrX:154351590 [GRCh38]
ChrX:153579958 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.423C>A (p.Ile141=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002328173] |
ChrX:154368041 [GRCh38]
ChrX:153596409 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1860G>A (p.Lys620=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002414917] |
ChrX:154364688 [GRCh38]
ChrX:153593056 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.34G>A (p.Ala12Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002459135] |
ChrX:154371212 [GRCh38]
ChrX:153599580 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5252C>T (p.Pro1751Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002340824] |
ChrX:154354677 [GRCh38]
ChrX:153583045 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1848A>G (p.Pro616=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002412957] |
ChrX:154364700 [GRCh38]
ChrX:153593068 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1936C>A (p.His646Asn) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002300069] |
ChrX:154364612 [GRCh38]
ChrX:153592980 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7404C>A (p.Gly2468=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002380414] |
ChrX:154349797 [GRCh38]
ChrX:153578165 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1236C>T (p.Gly412=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002365011] |
ChrX:154366217 [GRCh38]
ChrX:153594585 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4977C>T (p.Gly1659=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002342744] |
ChrX:154355065 [GRCh38]
ChrX:153583433 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.558C>T (p.Thr186=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002344801]|Heterotopia, periventricular, X-linked dominant [RCV003776131] |
ChrX:154367906 [GRCh38]
ChrX:153596274 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2280+5G>A |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002446075] |
ChrX:154364017 [GRCh38]
ChrX:153592385 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2633A>G (p.Glu878Gly) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002295826] |
ChrX:154362265 [GRCh38]
ChrX:153590633 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1599G>A (p.Leu533=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002398579] |
ChrX:154365228 [GRCh38]
ChrX:153593596 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5628C>T (p.Thr1876=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002344918]|Heterotopia, periventricular, X-linked dominant [RCV003776135] |
ChrX:154353973 [GRCh38]
ChrX:153582341 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.114C>T (p.Asp38=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002346643]|Heterotopia, periventricular, X-linked dominant [RCV003775690] |
ChrX:154371132 [GRCh38]
ChrX:153599500 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5643C>T (p.Asn1881=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002344989]|Heterotopia, periventricular, X-linked dominant [RCV003776137] |
ChrX:154353958 [GRCh38]
ChrX:153582326 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6174C>T (p.His2058=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002360436]|Heterotopia, periventricular, X-linked dominant [RCV003776222] |
ChrX:154353053 [GRCh38]
ChrX:153581421 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.1065+3G>A |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002413050] |
ChrX:154366559 [GRCh38]
ChrX:153594927 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7836G>A (p.Arg2612=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002409966] |
ChrX:154348957 [GRCh38]
ChrX:153577325 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1803T>G (p.Ala601=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002410037] |
ChrX:154364846 [GRCh38]
ChrX:153593214 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1939G>T (p.Val647Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002413144] |
ChrX:154364609 [GRCh38]
ChrX:153592977 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4327C>G (p.His1443Asp) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002300490] |
ChrX:154359131 [GRCh38]
ChrX:153587499 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2139C>T (p.Asp713=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002430479] |
ChrX:154364163 [GRCh38]
ChrX:153592531 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.171G>C (p.Leu57=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002399044] |
ChrX:154371075 [GRCh38]
ChrX:153599443 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3849G>A (p.Arg1283=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002364103] |
ChrX:154359862 [GRCh38]
ChrX:153588230 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7803C>T (p.Cys2601=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002409792]|Heterotopia, periventricular, X-linked dominant [RCV003099744] |
ChrX:154348990 [GRCh38]
ChrX:153577358 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.3972C>T (p.Tyr1324=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002321132]|Heterotopia, periventricular, X-linked dominant [RCV003094467] |
ChrX:154359739 [GRCh38]
ChrX:153588107 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5070G>A (p.Thr1690=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002335688]|Heterotopia, periventricular, X-linked dominant [RCV003096588] |
ChrX:154354972 [GRCh38]
ChrX:153583340 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1581C>G (p.Arg527=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002392650] |
ChrX:154365246 [GRCh38]
ChrX:153593614 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6528C>A (p.Ala2176=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002364152] |
ChrX:154352422 [GRCh38]
ChrX:153580790 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4147G>A (p.Ala1383Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002333188]|Heterotopia, periventricular, X-linked dominant [RCV003094547] |
ChrX:154359402 [GRCh38]
ChrX:153587770 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.7252A>T (p.Ile2418Phe) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002370981] |
ChrX:154350112 [GRCh38]
ChrX:153578480 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2909A>G (p.Asp970Gly) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002439793] |
ChrX:154361705 [GRCh38]
ChrX:153590073 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4332T>C (p.Asp1444=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002332135]|Heterotopia, periventricular, X-linked dominant [RCV003775869] |
ChrX:154359126 [GRCh38]
ChrX:153587494 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.1387G>T (p.Val463Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002396576]|Heterotopia, periventricular, X-linked dominant [RCV003774298] |
ChrX:154366066 [GRCh38]
ChrX:153594434 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5314-20G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003014792] |
ChrX:154354503 [GRCh38]
ChrX:153582871 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7244C>T (p.Pro2415Leu) |
single nucleotide variant |
FLNA-related disorder [RCV004534104]|Heterotopia, periventricular, X-linked dominant [RCV003775481]|not provided [RCV002462742] |
ChrX:154350120 [GRCh38]
ChrX:153578488 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1119C>A (p.Tyr373Ter) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002571581]|not provided [RCV002510211] |
ChrX:154366417 [GRCh38]
ChrX:153594785 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.4011C>T (p.Gly1337=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004068587]|Heterotopia, periventricular, X-linked dominant [RCV003033474] |
ChrX:154359615 [GRCh38]
ChrX:153587983 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4507G>A (p.Ala1503Thr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002815952] |
ChrX:154358536 [GRCh38]
ChrX:153586904 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4755+9C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002903511] |
ChrX:154358190 [GRCh38]
ChrX:153586558 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4755+10G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002750893] |
ChrX:154358189 [GRCh38]
ChrX:153586557 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7616C>T (p.Thr2539Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003074301] |
ChrX:154349502 [GRCh38]
ChrX:153577870 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6022+9C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002730981] |
ChrX:154353287 [GRCh38]
ChrX:153581655 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1246G>C (p.Val416Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004068871]|Heterotopia, periventricular, X-linked dominant [RCV002591828] |
ChrX:154366207 [GRCh38]
ChrX:153594575 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.1091A>G (p.His364Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002972671] |
ChrX:154366445 [GRCh38]
ChrX:153594813 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2788G>A (p.Asp930Asn) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002995775]|not provided [RCV003111612]|not specified [RCV003324060] |
ChrX:154362017 [GRCh38]
ChrX:153590385 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7908C>T (p.His2636=) |
single nucleotide variant |
FLNA-related disorder [RCV004736274]|Familial thoracic aortic aneurysm and aortic dissection [RCV004621717]|Heterotopia, periventricular, X-linked dominant [RCV002615148] |
ChrX:154348885 [GRCh38]
ChrX:153577253 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3527G>A (p.Gly1176Glu) |
single nucleotide variant |
not provided [RCV002461766] |
ChrX:154360268 [GRCh38]
ChrX:153588636 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.3616G>A (p.Glu1206Lys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002815288] |
ChrX:154360179 [GRCh38]
ChrX:153588547 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.2930C>A (p.Ser977Tyr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002815192] |
ChrX:154361684 [GRCh38]
ChrX:153590052 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2694T>C (p.Asn898=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003014795] |
ChrX:154362111 [GRCh38]
ChrX:153590479 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.621G>C (p.Pro207=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003034667] |
ChrX:154367843 [GRCh38]
ChrX:153596211 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6106C>A (p.Pro2036Thr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002820099] |
ChrX:154353121 [GRCh38]
ChrX:153581489 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1568-16C>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002993808] |
ChrX:154365275 [GRCh38]
ChrX:153593643 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1565C>T (p.Pro522Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002820131] |
ChrX:154365351 [GRCh38]
ChrX:153593719 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3806-15T>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002734907] |
ChrX:154359920 [GRCh38]
ChrX:153588288 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2565+11C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002975655] |
ChrX:154362407 [GRCh38]
ChrX:153590775 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5352T>C (p.Asp1784=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002858436] |
ChrX:154354445 [GRCh38]
ChrX:153582813 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4808C>T (p.Thr1603Met) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002618267] |
ChrX:154357571 [GRCh38]
ChrX:153585939 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.1308C>T (p.Ala436=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002843688] |
ChrX:154366145 [GRCh38]
ChrX:153594513 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3881A>C (p.Lys1294Thr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002975643] |
ChrX:154359830 [GRCh38]
ChrX:153588198 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.1354G>A (p.Gly452Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004113648]|Heterotopia, periventricular, X-linked dominant [RCV003777733]|not provided [RCV004725590] |
ChrX:154366099 [GRCh38]
ChrX:153594467 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6591C>T (p.Thr2197=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004617058]|Heterotopia, periventricular, X-linked dominant [RCV002617762] |
ChrX:154352359 [GRCh38]
ChrX:153580727 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7024-3C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002819992] |
ChrX:154351044 [GRCh38]
ChrX:153579412 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2566-17C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002618587] |
ChrX:154362349 [GRCh38]
ChrX:153590717 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.582C>T (p.Ser194=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004823076]|Heterotopia, periventricular, X-linked dominant [RCV002904930] |
ChrX:154367882 [GRCh38]
ChrX:153596250 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3567C>T (p.Gly1189=) |
single nucleotide variant |
FLNA-related disorder [RCV004545357]|Heterotopia, periventricular, X-linked dominant [RCV002614419] |
ChrX:154360228 [GRCh38]
ChrX:153588596 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3637G>A (p.Gly1213Ser) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV003389083]|Heterotopia, periventricular, X-linked dominant [RCV003015439] |
ChrX:154360158 [GRCh38]
ChrX:153588526 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.4661G>A (p.Gly1554Glu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003016809] |
ChrX:154358293 [GRCh38]
ChrX:153586661 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2565+11C>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003098996] |
ChrX:154362407 [GRCh38]
ChrX:153590775 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4455C>T (p.Val1485=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002615928]|not provided [RCV003143513] |
ChrX:154359003 [GRCh38]
ChrX:153587371 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.310C>G (p.Leu104Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002994966]|not provided [RCV003146721] |
ChrX:154370936 [GRCh38]
ChrX:153599304 [GRCh37]
ChrX:Xq28 |
likely pathogenic|uncertain significance |
| NM_001110556.2(FLNA):c.3937G>T (p.Gly1313Cys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003013902] |
ChrX:154359774 [GRCh38]
ChrX:153588142 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.708G>C (p.Leu236=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002903164] |
ChrX:154367653 [GRCh38]
ChrX:153596021 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.47C>T (p.Ala16Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002881168] |
ChrX:154371199 [GRCh38]
ChrX:153599567 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5550C>G (p.His1850Gln) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003074844] |
ChrX:154354158 [GRCh38]
ChrX:153582526 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5830C>T (p.Pro1944Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002731071] |
ChrX:154353584 [GRCh38]
ChrX:153581952 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2003A>C (p.Gln668Pro) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003075277] |
ChrX:154364545 [GRCh38]
ChrX:153592913 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1411A>G (p.Thr471Ala) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003075779] |
ChrX:154366042 [GRCh38]
ChrX:153594410 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7156+18C>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002972603] |
ChrX:154350891 [GRCh38]
ChrX:153579259 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6498C>A (p.Ile2166=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002904206] |
ChrX:154352557 [GRCh38]
ChrX:153580925 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7402G>A (p.Gly2468Ser) |
single nucleotide variant |
not provided [RCV002511329] |
ChrX:154349799 [GRCh38]
ChrX:153578167 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3215C>T (p.Ala1072Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002574748]|not provided [RCV002511381] |
ChrX:154360580 [GRCh38]
ChrX:153588948 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2826+3A>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002862105] |
ChrX:154361976 [GRCh38]
ChrX:153590344 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3259C>G (p.Arg1087Gly) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002512463] |
ChrX:154360536 [GRCh38]
ChrX:153588904 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3352G>A (p.Gly1118Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003016139] |
ChrX:154360443 [GRCh38]
ChrX:153588811 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.388G>A (p.Val130Met) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002685459]|not provided [RCV003443067] |
ChrX:154368076 [GRCh38]
ChrX:153596444 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6514C>A (p.Gln2172Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004183260] |
ChrX:154352436 [GRCh38]
ChrX:153580804 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6503-1G>A |
single nucleotide variant |
not provided [RCV002512423] |
ChrX:154352448 [GRCh38]
ChrX:153580816 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.7848G>A (p.Val2616=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002842691] |
ChrX:154348945 [GRCh38]
ChrX:153577313 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1568-19dup |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV003076526] |
ChrX:154365277..154365278 [GRCh38]
ChrX:153593645..153593646 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6153G>A (p.Arg2051=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003308266]|Heterotopia, periventricular, X-linked dominant [RCV002794782] |
ChrX:154353074 [GRCh38]
ChrX:153581442 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.2066T>G (p.Val689Gly) |
single nucleotide variant |
not provided [RCV003156601] |
ChrX:154364329 [GRCh38]
ChrX:153592697 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7202del (p.Leu2401fs) |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV003034077] |
ChrX:154350162 [GRCh38]
ChrX:153578530 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.24G>A (p.Ala8=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002994222] |
ChrX:154371222 [GRCh38]
ChrX:153599590 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4598+13G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002774940] |
ChrX:154358432 [GRCh38]
ChrX:153586800 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4593C>T (p.Pro1531=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003074851] |
ChrX:154358450 [GRCh38]
ChrX:153586818 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4142+8A>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002819400] |
ChrX:154359476 [GRCh38]
ChrX:153587844 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2760G>A (p.Val920=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002622929] |
ChrX:154362045 [GRCh38]
ChrX:153590413 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6603C>G (p.Arg2201=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003036775] |
ChrX:154352347 [GRCh38]
ChrX:153580715 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6227-9A>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002570245] |
ChrX:154352933 [GRCh38]
ChrX:153581301 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1593G>A (p.Lys531=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002639781] |
ChrX:154365234 [GRCh38]
ChrX:153593602 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7189A>G (p.Asn2397Asp) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003081648] |
ChrX:154350175 [GRCh38]
ChrX:153578543 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.868+18G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002871478] |
ChrX:154367379 [GRCh38]
ChrX:153595747 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3979+15C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002913671] |
ChrX:154359717 [GRCh38]
ChrX:153588085 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5557+6C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002927439] |
ChrX:154354145 [GRCh38]
ChrX:153582513 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1568-3C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002926815] |
ChrX:154365262 [GRCh38]
ChrX:153593630 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1601G>T (p.Gly534Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003077672]|not provided [RCV003108147] |
ChrX:154365226 [GRCh38]
ChrX:153593594 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.4278C>T (p.Val1426=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002846942] |
ChrX:154359271 [GRCh38]
ChrX:153587639 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1430C>T (p.Ala477Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003002713] |
ChrX:154365486 [GRCh38]
ChrX:153593854 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5477G>A (p.Gly1826Asp) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002825386] |
ChrX:154354231 [GRCh38]
ChrX:153582599 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4598+1G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002889880] |
ChrX:154358444 [GRCh38]
ChrX:153586812 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.6789C>A (p.Thr2263=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002885261] |
ChrX:154352002 [GRCh38]
ChrX:153580370 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.49C>T (p.Pro17Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002695524] |
ChrX:154371197 [GRCh38]
ChrX:153599565 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7900G>T (p.Asp2634Tyr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002571792] |
ChrX:154348893 [GRCh38]
ChrX:153577261 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1395C>T (p.Ile465=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003039487] |
ChrX:154366058 [GRCh38]
ChrX:153594426 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001456.3(FLNA):c.3806delG |
deletion |
Familial thoracic aortic aneurysm and aortic dissection [RCV004095141] |
ChrX:154359905 [GRCh38]
ChrX:153588273 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.6004C>A (p.Leu2002Met) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003021194] |
ChrX:154353314 [GRCh38]
ChrX:153581682 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5150C>T (p.Pro1717Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002999899]|not provided [RCV003327581] |
ChrX:154354892 [GRCh38]
ChrX:153583260 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.4785C>T (p.His1595=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002867011] |
ChrX:154357594 [GRCh38]
ChrX:153585962 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.7136A>G (p.Tyr2379Cys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002637236]|not provided [RCV004593167] |
ChrX:154350929 [GRCh38]
ChrX:153579297 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1869T>C (p.Cys623=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002797307] |
ChrX:154364679 [GRCh38]
ChrX:153593047 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.53G>A (p.Gly18Asp) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003019631] |
ChrX:154371193 [GRCh38]
ChrX:153599561 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2115C>G (p.Ala705=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003078423] |
ChrX:154364280 [GRCh38]
ChrX:153592648 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7381G>A (p.Ala2461Thr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002619442]|not provided [RCV004779437] |
ChrX:154349820 [GRCh38]
ChrX:153578188 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1990C>T (p.Arg664Cys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002923868] |
ChrX:154364558 [GRCh38]
ChrX:153592926 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7507G>A (p.Gly2503Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004823102]|Heterotopia, periventricular, X-linked dominant [RCV003100282] |
ChrX:154349694 [GRCh38]
ChrX:153578062 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1464G>C (p.Arg488=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002949310] |
ChrX:154365452 [GRCh38]
ChrX:153593820 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2877C>T (p.Ser959=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003020438] |
ChrX:154361737 [GRCh38]
ChrX:153590105 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.486G>A (p.Glu162=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002885222] |
ChrX:154367978 [GRCh38]
ChrX:153596346 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2007C>G (p.Asp669Glu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002636622] |
ChrX:154364541 [GRCh38]
ChrX:153592909 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4474+8_4474+9delinsAG |
indel |
Heterotopia, periventricular, X-linked dominant [RCV002736126] |
ChrX:154358975..154358976 [GRCh38]
ChrX:153587343..153587344 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7491C>T (p.Ile2497=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003036540] |
ChrX:154349710 [GRCh38]
ChrX:153578078 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5216C>T (p.Thr1739Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004823071]|Heterotopia, periventricular, X-linked dominant [RCV002885911]|not provided [RCV004790265] |
ChrX:154354826 [GRCh38]
ChrX:153583194 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2899C>T (p.Pro967Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004105691] |
ChrX:154361715 [GRCh38]
ChrX:153590083 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1704G>A (p.Val568=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002820647] |
ChrX:154364945 [GRCh38]
ChrX:153593313 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7757-5C>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003019911] |
ChrX:154349041 [GRCh38]
ChrX:153577409 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3441C>T (p.Gly1147=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002923781] |
ChrX:154360354 [GRCh38]
ChrX:153588722 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6815C>T (p.Ala2272Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003037887] |
ChrX:154351976 [GRCh38]
ChrX:153580344 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1425C>G (p.Gly475=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002926601] |
ChrX:154366028 [GRCh38]
ChrX:153594396 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5170G>A (p.Val1724Met) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002662620] |
ChrX:154354872 [GRCh38]
ChrX:153583240 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5313+18A>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002976266] |
ChrX:154354598 [GRCh38]
ChrX:153582966 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4762G>A (p.Glu1588Lys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002923544] |
ChrX:154357617 [GRCh38]
ChrX:153585985 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5217+18G>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002591408] |
ChrX:154354807 [GRCh38]
ChrX:153583175 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1373T>C (p.Val458Ala) |
single nucleotide variant |
Oto-palato-digital syndrome, type I [RCV002571630] |
ChrX:154366080 [GRCh38]
ChrX:153594448 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4707C>T (p.Thr1569=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003038587] |
ChrX:154358247 [GRCh38]
ChrX:153586615 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5382C>T (p.Val1794=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002619307] |
ChrX:154354415 [GRCh38]
ChrX:153582783 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5485A>T (p.Thr1829Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002796451] |
ChrX:154354223 [GRCh38]
ChrX:153582591 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4770G>C (p.Lys1590Asn) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003078556] |
ChrX:154357609 [GRCh38]
ChrX:153585977 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5625C>G (p.Leu1875=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004823084]|Heterotopia, periventricular, X-linked dominant [RCV002979674] |
ChrX:154353976 [GRCh38]
ChrX:153582344 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.721-15T>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002848308] |
ChrX:154367559 [GRCh38]
ChrX:153595927 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.58G>T (p.Gly20Cys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002926933] |
ChrX:154371188 [GRCh38]
ChrX:153599556 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.7739T>C (p.Val2580Ala) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002705728] |
ChrX:154349379 [GRCh38]
ChrX:153577747 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1567+16G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002662649] |
ChrX:154365333 [GRCh38]
ChrX:153593701 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1315G>A (p.Asp439Asn) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002975921] |
ChrX:154366138 [GRCh38]
ChrX:153594506 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.600C>T (p.Ala200=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002846193] |
ChrX:154367864 [GRCh38]
ChrX:153596232 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1829-19G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002949301] |
ChrX:154364738 [GRCh38]
ChrX:153593106 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7607A>T (p.Asp2536Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002569470] |
ChrX:154349511 [GRCh38]
ChrX:153577879 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1607G>A (p.Gly536Asp) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003054484] |
ChrX:154365220 [GRCh38]
ChrX:153593588 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2022+6G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002889136] |
ChrX:154364520 [GRCh38]
ChrX:153592888 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6779G>A (p.Ser2260Asn) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002796223] |
ChrX:154352012 [GRCh38]
ChrX:153580380 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.777C>T (p.Thr259=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002761473] |
ChrX:154367488 [GRCh38]
ChrX:153595856 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7439_7440inv (p.Pro2480Gln) |
inversion |
Heterotopia, periventricular, X-linked dominant [RCV002820637] |
ChrX:154349761..154349762 [GRCh38]
ChrX:153578129..153578130 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2405-8C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003079940] |
ChrX:154362586 [GRCh38]
ChrX:153590954 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1018C>T (p.Arg340Cys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004065226]|Heterotopia, periventricular, X-linked dominant [RCV002982933] |
ChrX:154366609 [GRCh38]
ChrX:153594977 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.729C>T (p.Thr243=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003079726] |
ChrX:154367536 [GRCh38]
ChrX:153595904 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.623-5C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002952751] |
ChrX:154367743 [GRCh38]
ChrX:153596111 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3021G>C (p.Lys1007Asn) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003002227] |
ChrX:154361494 [GRCh38]
ChrX:153589862 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3467C>G (p.Pro1156Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003021064] |
ChrX:154360328 [GRCh38]
ChrX:153588696 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.721-11G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002923844] |
ChrX:154367555 [GRCh38]
ChrX:153595923 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.373+19C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002694961] |
ChrX:154370854 [GRCh38]
ChrX:153599222 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4970-14C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002637518] |
ChrX:154355086 [GRCh38]
ChrX:153583454 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6380-18C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002636952] |
ChrX:154352693 [GRCh38]
ChrX:153581061 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3253C>T (p.Pro1085Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002952793] |
ChrX:154360542 [GRCh38]
ChrX:153588910 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.7679T>C (p.Val2560Ala) |
single nucleotide variant |
FG syndrome 2 [RCV003321960]|Heterotopia, periventricular, X-linked dominant [RCV002867962]|not provided [RCV003108133] |
ChrX:154349439 [GRCh38]
ChrX:153577807 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1133A>G (p.Gln378Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003036073] |
ChrX:154366403 [GRCh38]
ChrX:153594771 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3083A>G (p.Asn1028Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003042936] |
ChrX:154361432 [GRCh38]
ChrX:153589800 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6769+12C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002805886] |
ChrX:154352169 [GRCh38]
ChrX:153580537 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4209G>C (p.Met1403Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002745894] |
ChrX:154359340 [GRCh38]
ChrX:153587708 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4809G>T (p.Thr1603=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002741252] |
ChrX:154357570 [GRCh38]
ChrX:153585938 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.622+18C>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002597330] |
ChrX:154367824 [GRCh38]
ChrX:153596192 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2873A>G (p.Lys958Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002745685] |
ChrX:154361741 [GRCh38]
ChrX:153590109 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6907+13C>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002933226] |
ChrX:154351871 [GRCh38]
ChrX:153580239 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6769+16C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003082254] |
ChrX:154352165 [GRCh38]
ChrX:153580533 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3117G>A (p.Gly1039=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002895073] |
ChrX:154361398 [GRCh38]
ChrX:153589766 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1764C>T (p.Gly588=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003085646] |
ChrX:154364885 [GRCh38]
ChrX:153593253 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2656+14C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002640746] |
ChrX:154362228 [GRCh38]
ChrX:153590596 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7178T>A (p.Ile2393Asn) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003082983] |
ChrX:154350186 [GRCh38]
ChrX:153578554 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2933G>A (p.Gly978Asp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004066842]|Heterotopia, periventricular, X-linked dominant [RCV002667863] |
ChrX:154361681 [GRCh38]
ChrX:153590049 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5706T>C (p.Ile1902=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002745754] |
ChrX:154353708 [GRCh38]
ChrX:153582076 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4142+17G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002623887]|not specified [RCV003317651] |
ChrX:154359467 [GRCh38]
ChrX:153587835 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.4026C>A (p.Ser1342Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003055974] |
ChrX:154359600 [GRCh38]
ChrX:153587968 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2404+7C>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002890026] |
ChrX:154362654 [GRCh38]
ChrX:153591022 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1228+8G>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003023231] |
ChrX:154366300 [GRCh38]
ChrX:153594668 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3086G>A (p.Ser1029Asn) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003040027] |
ChrX:154361429 [GRCh38]
ChrX:153589797 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.280A>G (p.Asn94Asp) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003040916] |
ChrX:154370966 [GRCh38]
ChrX:153599334 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.1066-20G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002828040] |
ChrX:154366490 [GRCh38]
ChrX:153594858 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4854C>T (p.Ile1618=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003384346]|Heterotopia, periventricular, X-linked dominant [RCV002624196] |
ChrX:154357525 [GRCh38]
ChrX:153585893 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5697T>G (p.Ser1899=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002573868] |
ChrX:154353717 [GRCh38]
ChrX:153582085 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4380A>G (p.Pro1460=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002786326] |
ChrX:154359078 [GRCh38]
ChrX:153587446 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2773A>T (p.Ile925Phe) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003082285] |
ChrX:154362032 [GRCh38]
ChrX:153590400 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6872G>A (p.Gly2291Asp) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002625122]|not provided [RCV003143526] |
ChrX:154351919 [GRCh38]
ChrX:153580287 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.1598T>C (p.Leu533Pro) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002982407] |
ChrX:154365229 [GRCh38]
ChrX:153593597 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6502+19C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002802062] |
ChrX:154352534 [GRCh38]
ChrX:153580902 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5498C>T (p.Ala1833Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002700054] |
ChrX:154354210 [GRCh38]
ChrX:153582578 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7553-7C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002663234] |
ChrX:154349572 [GRCh38]
ChrX:153577940 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6770_6774del (p.Ala2257fs) |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV003057220] |
ChrX:154352017..154352021 [GRCh38]
ChrX:153580385..153580389 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.5851C>T (p.Arg1951Trp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004105139] |
ChrX:154353563 [GRCh38]
ChrX:153581931 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6908-10C>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003039986] |
ChrX:154351706 [GRCh38]
ChrX:153580074 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.868+1G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002745608]|not provided [RCV003146613] |
ChrX:154367396 [GRCh38]
ChrX:153595764 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.1567+14G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002786490] |
ChrX:154365335 [GRCh38]
ChrX:153593703 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.44C>A (p.Ala15Glu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003023939]|not provided [RCV004763513] |
ChrX:154371202 [GRCh38]
ChrX:153599570 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3552C>T (p.Asp1184=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002890022] |
ChrX:154360243 [GRCh38]
ChrX:153588611 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1981G>A (p.Ala661Thr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002933182]|not provided [RCV003151905] |
ChrX:154364567 [GRCh38]
ChrX:153592935 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1022C>T (p.Thr341Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003084483] |
ChrX:154366605 [GRCh38]
ChrX:153594973 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7793G>A (p.Arg2598Lys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002624236] |
ChrX:154349000 [GRCh38]
ChrX:153577368 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1785A>G (p.Ala595=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002876546] |
ChrX:154364864 [GRCh38]
ChrX:153593232 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1396C>T (p.Pro466Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003083294] |
ChrX:154366057 [GRCh38]
ChrX:153594425 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1357G>A (p.Val453Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003083309] |
ChrX:154366096 [GRCh38]
ChrX:153594464 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3270_3271delinsTA (p.Asp1091Asn) |
indel |
Heterotopia, periventricular, X-linked dominant [RCV002958616] |
ChrX:154360524..154360525 [GRCh38]
ChrX:153588892..153588893 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2358C>T (p.Ala786=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002932941] |
ChrX:154362707 [GRCh38]
ChrX:153591075 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.2875A>G (p.Ser959Gly) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003024582] |
ChrX:154361739 [GRCh38]
ChrX:153590107 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6770-12_6770-11del |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV002872137] |
ChrX:154352032..154352033 [GRCh38]
ChrX:153580400..153580401 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3491A>G (p.Lys1164Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002625333] |
ChrX:154360304 [GRCh38]
ChrX:153588672 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.1478A>G (p.Lys493Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003041650] |
ChrX:154365438 [GRCh38]
ChrX:153593806 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6348C>T (p.Ile2116=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002852161] |
ChrX:154352803 [GRCh38]
ChrX:153581171 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3806-20T>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002667245] |
ChrX:154359925 [GRCh38]
ChrX:153588293 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5011G>A (p.Val1671Met) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002595889] |
ChrX:154355031 [GRCh38]
ChrX:153583399 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1692-7T>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002711125] |
ChrX:154364964 [GRCh38]
ChrX:153593332 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6276C>T (p.Ile2092=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004823086]|Heterotopia, periventricular, X-linked dominant [RCV003006047] |
ChrX:154352875 [GRCh38]
ChrX:153581243 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7605A>G (p.Val2535=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002828243] |
ChrX:154349513 [GRCh38]
ChrX:153577881 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.374-8_374-6del |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV002786357] |
ChrX:154368096..154368098 [GRCh38]
ChrX:153596464..153596466 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7542C>T (p.Ala2514=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002872332] |
ChrX:154349659 [GRCh38]
ChrX:153578027 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7009G>C (p.Val2337Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003022915] |
ChrX:154351595 [GRCh38]
ChrX:153579963 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.721-18G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002852905] |
ChrX:154367562 [GRCh38]
ChrX:153595930 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7392G>C (p.Val2464=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003085081] |
ChrX:154349809 [GRCh38]
ChrX:153578177 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.991A>G (p.Lys331Glu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002982744] |
ChrX:154366636 [GRCh38]
ChrX:153595004 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7587G>C (p.Glu2529Asp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004119700] |
ChrX:154349531 [GRCh38]
ChrX:153577899 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4304-5C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003042323] |
ChrX:154359159 [GRCh38]
ChrX:153587527 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3071T>G (p.Leu1024Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003007789] |
ChrX:154361444 [GRCh38]
ChrX:153589812 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5208C>T (p.Phe1736=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004150846] |
ChrX:154354834 [GRCh38]
ChrX:153583202 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1322C>T (p.Thr441Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002666564] |
ChrX:154366131 [GRCh38]
ChrX:153594499 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1311G>A (p.Arg437=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004823067]|Heterotopia, periventricular, X-linked dominant [RCV002893933] |
ChrX:154366142 [GRCh38]
ChrX:153594510 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.58G>A (p.Gly20Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002711911] |
ChrX:154371188 [GRCh38]
ChrX:153599556 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7333+18G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002786561] |
ChrX:154350013 [GRCh38]
ChrX:153578381 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.3336C>G (p.Leu1112=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003041059] |
ChrX:154360459 [GRCh38]
ChrX:153588827 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2565+10G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002985347] |
ChrX:154362408 [GRCh38]
ChrX:153590776 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6126G>A (p.Ser2042=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002596418] |
ChrX:154353101 [GRCh38]
ChrX:153581469 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2907G>A (p.Leu969=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002701330] |
ChrX:154361707 [GRCh38]
ChrX:153590075 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6138T>C (p.Asp2046=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003040099] |
ChrX:154353089 [GRCh38]
ChrX:153581457 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4143G>C (p.Arg1381Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003056325] |
ChrX:154359406 [GRCh38]
ChrX:153587774 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2945-7T>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002786665] |
ChrX:154361577 [GRCh38]
ChrX:153589945 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5558-17C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002829851] |
ChrX:154354060 [GRCh38]
ChrX:153582428 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5854G>A (p.Val1952Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002593553] |
ChrX:154353560 [GRCh38]
ChrX:153581928 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.663C>A (p.Pro221=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003007571] |
ChrX:154367698 [GRCh38]
ChrX:153596066 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6364G>C (p.Asp2122His) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003007755] |
ChrX:154352787 [GRCh38]
ChrX:153581155 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5822A>G (p.Gln1941Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003082429] |
ChrX:154353592 [GRCh38]
ChrX:153581960 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5871C>T (p.Ser1957=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003089686] |
ChrX:154353447 [GRCh38]
ChrX:153581815 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1429+11C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002602530] |
ChrX:154366013 [GRCh38]
ChrX:153594381 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.987+8C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002631600] |
ChrX:154366724 [GRCh38]
ChrX:153595092 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3393C>T (p.Pro1131=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004823080]|Heterotopia, periventricular, X-linked dominant [RCV002938525] |
ChrX:154360402 [GRCh38]
ChrX:153588770 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7363_7364insCGTGAACACCA (p.Ser2455delinsThrTer) |
insertion |
Heterotopia, periventricular, X-linked dominant [RCV003047382] |
ChrX:154349837..154349838 [GRCh38]
ChrX:153578205..153578206 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.6151C>T (p.Arg2051Trp) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003011422]|not provided [RCV003329453] |
ChrX:154353076 [GRCh38]
ChrX:153581444 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7184G>A (p.Arg2395Gln) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002577682] |
ChrX:154350180 [GRCh38]
ChrX:153578548 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2136+13C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002598607] |
ChrX:154364246 [GRCh38]
ChrX:153592614 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.94G>A (p.Glu32Lys) |
single nucleotide variant |
FLNA-related disorder [RCV004540555]|Heterotopia, periventricular, X-linked dominant [RCV003088826]|not provided [RCV004775295] |
ChrX:154371152 [GRCh38]
ChrX:153599520 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6810C>A (p.Gly2270=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003047366] |
ChrX:154351981 [GRCh38]
ChrX:153580349 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3855G>A (p.Leu1285=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002632997] |
ChrX:154359856 [GRCh38]
ChrX:153588224 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4465G>A (p.Gly1489Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003031911] |
ChrX:154358993 [GRCh38]
ChrX:153587361 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3737A>C (p.Lys1246Thr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002720235] |
ChrX:154360058 [GRCh38]
ChrX:153588426 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2405-1G>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002962362] |
ChrX:154362579 [GRCh38]
ChrX:153590947 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.5258G>A (p.Arg1753Gln) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002629497] |
ChrX:154354671 [GRCh38]
ChrX:153583039 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.1720T>C (p.Cys574Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004070368]|Heterotopia, periventricular, X-linked dominant [RCV003065084] |
ChrX:154364929 [GRCh38]
ChrX:153593297 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.7554C>T (p.Gly2518=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002631414] |
ChrX:154349564 [GRCh38]
ChrX:153577932 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.622+12C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002941911] |
ChrX:154367830 [GRCh38]
ChrX:153596198 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.194C>T (p.Ala65Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002937980] |
ChrX:154371052 [GRCh38]
ChrX:153599420 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3342C>G (p.Cys1114Trp) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003091205]|not provided [RCV004765666] |
ChrX:154360453 [GRCh38]
ChrX:153588821 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.142A>C (p.Thr48Pro) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002832867] |
ChrX:154371104 [GRCh38]
ChrX:153599472 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.989C>G (p.Ala330Gly) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003064511] |
ChrX:154366638 [GRCh38]
ChrX:153595006 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3167C>T (p.Pro1056Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003029774] |
ChrX:154361348 [GRCh38]
ChrX:153589716 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4320C>T (p.Val1440=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004823050]|Heterotopia, periventricular, X-linked dominant [RCV002675898] |
ChrX:154359138 [GRCh38]
ChrX:153587506 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4441G>A (p.Ala1481Thr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002895273] |
ChrX:154359017 [GRCh38]
ChrX:153587385 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.4778A>C (p.Lys1593Thr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003010266]|not provided [RCV005001336] |
ChrX:154357601 [GRCh38]
ChrX:153585969 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7023+11G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002770345] |
ChrX:154351570 [GRCh38]
ChrX:153579938 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5217+18del |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV002647331] |
ChrX:154354807 [GRCh38]
ChrX:153583175 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.259_260insG (p.Lys87fs) |
insertion |
Heterotopia, periventricular, X-linked dominant [RCV002898889] |
ChrX:154370986..154370987 [GRCh38]
ChrX:153599354..153599355 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.4602C>T (p.Pro1534=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002899625] |
ChrX:154358352 [GRCh38]
ChrX:153586720 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5861-6C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002988447] |
ChrX:154353463 [GRCh38]
ChrX:153581831 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1692-16G>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002714918] |
ChrX:154364973 [GRCh38]
ChrX:153593341 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7410C>T (p.Ser2470=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002598508] |
ChrX:154349791 [GRCh38]
ChrX:153578159 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4479G>C (p.Leu1493=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002833189] |
ChrX:154358564 [GRCh38]
ChrX:153586932 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4192G>C (p.Ala1398Pro) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003088427] |
ChrX:154359357 [GRCh38]
ChrX:153587725 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7636C>G (p.Gln2546Glu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003009733] |
ChrX:154349482 [GRCh38]
ChrX:153577850 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4475G>A (p.Gly1492Asp) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002599191]|not provided [RCV004775299] |
ChrX:154358568 [GRCh38]
ChrX:153586936 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7869G>A (p.Lys2623=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002647913] |
ChrX:154348924 [GRCh38]
ChrX:153577292 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.869-16C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003062501] |
ChrX:154366866 [GRCh38]
ChrX:153595234 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5217+13G>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003046377] |
ChrX:154354812 [GRCh38]
ChrX:153583180 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3422C>G (p.Ala1141Gly) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003010460] |
ChrX:154360373 [GRCh38]
ChrX:153588741 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5765T>A (p.Val1922Glu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002856448] |
ChrX:154353649 [GRCh38]
ChrX:153582017 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7631C>A (p.Ala2544Asp) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003086325] |
ChrX:154349487 [GRCh38]
ChrX:153577855 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3707G>C (p.Gly1236Ala) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002833710] |
ChrX:154360088 [GRCh38]
ChrX:153588456 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2585T>C (p.Ile862Thr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002671470]|not provided [RCV003128870] |
ChrX:154362313 [GRCh38]
ChrX:153590681 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.1647C>G (p.Thr549=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002937563] |
ChrX:154365180 [GRCh38]
ChrX:153593548 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7633C>G (p.Pro2545Ala) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002628723] |
ChrX:154349485 [GRCh38]
ChrX:153577853 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.7080C>T (p.Ala2360=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002900012] |
ChrX:154350985 [GRCh38]
ChrX:153579353 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3207+6T>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002811993] |
ChrX:154361302 [GRCh38]
ChrX:153589670 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.122G>A (p.Trp41Ter) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003027422]|not provided [RCV003138453] |
ChrX:154371124 [GRCh38]
ChrX:153599492 [GRCh37]
ChrX:Xq28 |
pathogenic|likely pathogenic |
| NM_001110556.2(FLNA):c.5314-19C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002856497] |
ChrX:154354502 [GRCh38]
ChrX:153582870 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2949G>A (p.Val983=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002629514] |
ChrX:154361566 [GRCh38]
ChrX:153589934 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1351G>A (p.Glu451Lys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003029706] |
ChrX:154366102 [GRCh38]
ChrX:153594470 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4867G>A (p.Gly1623Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002650237] |
ChrX:154357512 [GRCh38]
ChrX:153585880 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7880C>G (p.Thr2627Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002599936] |
ChrX:154348913 [GRCh38]
ChrX:153577281 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.5996T>C (p.Leu1999Pro) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV004813213]|not provided [RCV003059970] |
ChrX:154353322 [GRCh38]
ChrX:153581690 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7628G>T (p.Cys2543Phe) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003029350] |
ChrX:154349490 [GRCh38]
ChrX:153577858 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3979+17C>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002899848] |
ChrX:154359715 [GRCh38]
ChrX:153588083 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7425T>G (p.Asp2475Glu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004097336] |
ChrX:154349776 [GRCh38]
ChrX:153578144 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4474+7G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003010432] |
ChrX:154358977 [GRCh38]
ChrX:153587345 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4124A>G (p.Lys1375Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002933536]|not provided [RCV004725422] |
ChrX:154359502 [GRCh38]
ChrX:153587870 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2088A>G (p.Thr696=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003028977] |
ChrX:154364307 [GRCh38]
ChrX:153592675 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2519C>T (p.Pro840Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003043867] |
ChrX:154362464 [GRCh38]
ChrX:153590832 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1252G>T (p.Val418Phe) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002649970] |
ChrX:154366201 [GRCh38]
ChrX:153594569 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7301C>T (p.Ala2434Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002791792] |
ChrX:154350063 [GRCh38]
ChrX:153578431 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2281-4G>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003064716] |
ChrX:154362788 [GRCh38]
ChrX:153591156 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6022+6C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002967187] |
ChrX:154353290 [GRCh38]
ChrX:153581658 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1568-5G>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002670721] |
ChrX:154365264 [GRCh38]
ChrX:153593632 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3805+20G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003063024] |
ChrX:154359970 [GRCh38]
ChrX:153588338 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5088G>C (p.Val1696=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003063072] |
ChrX:154354954 [GRCh38]
ChrX:153583322 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2826+20C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002988448]|not specified [RCV003324059] |
ChrX:154361959 [GRCh38]
ChrX:153590327 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.4453G>A (p.Val1485Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002895573] |
ChrX:154359005 [GRCh38]
ChrX:153587373 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2827-20C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003089270] |
ChrX:154361807 [GRCh38]
ChrX:153590175 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3857C>T (p.Thr1286Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002806410] |
ChrX:154359854 [GRCh38]
ChrX:153588222 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1429G>C (p.Ala477Pro) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002716793]|not provided [RCV003146612] |
ChrX:154366024 [GRCh38]
ChrX:153594392 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4449G>T (p.Leu1483Phe) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002600823] |
ChrX:154359009 [GRCh38]
ChrX:153587377 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3537C>A (p.Gly1179=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002812012] |
ChrX:154360258 [GRCh38]
ChrX:153588626 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.1691+11C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003060013] |
ChrX:154365125 [GRCh38]
ChrX:153593493 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3664A>G (p.Ile1222Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003027800] |
ChrX:154360131 [GRCh38]
ChrX:153588499 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6152G>C (p.Arg2051Pro) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002671194] |
ChrX:154353075 [GRCh38]
ChrX:153581443 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6023-30_6023-9dup |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV003062357] |
ChrX:154353212..154353213 [GRCh38]
ChrX:153581580..153581581 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1915G>A (p.Glu639Lys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003029436] |
ChrX:154364633 [GRCh38]
ChrX:153593001 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4970-9C>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002629302] |
ChrX:154355081 [GRCh38]
ChrX:153583449 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2370C>T (p.Thr790=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003069204] |
ChrX:154362695 [GRCh38]
ChrX:153591063 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4165G>T (p.Gly1389Cys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003066533] |
ChrX:154359384 [GRCh38]
ChrX:153587752 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7553-20C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003051031] |
ChrX:154349585 [GRCh38]
ChrX:153577953 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.249G>A (p.Val83=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002605380] |
ChrX:154370997 [GRCh38]
ChrX:153599365 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2233G>A (p.Ala745Thr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002943483] |
ChrX:154364069 [GRCh38]
ChrX:153592437 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7174T>A (p.Phe2392Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002654650] |
ChrX:154350190 [GRCh38]
ChrX:153578558 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2291G>C (p.Gly764Ala) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003069926] |
ChrX:154362774 [GRCh38]
ChrX:153591142 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.1857T>A (p.Ala619=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003051645] |
ChrX:154364691 [GRCh38]
ChrX:153593059 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.387C>G (p.Ile129Met) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003050680] |
ChrX:154368077 [GRCh38]
ChrX:153596445 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2021G>A (p.Arg674Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004095687] |
ChrX:154364527 [GRCh38]
ChrX:153592895 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6908-18del |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV002654978] |
ChrX:154351714 [GRCh38]
ChrX:153580082 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2281-19_2281-14del |
microsatellite |
Heterotopia, periventricular, X-linked dominant [RCV003069382] |
ChrX:154362798..154362803 [GRCh38]
ChrX:153591166..153591171 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.42C>T (p.Gly14=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003069493] |
ChrX:154371204 [GRCh38]
ChrX:153599572 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5542A>G (p.Asn1848Asp) |
single nucleotide variant |
not provided [RCV003144005] |
ChrX:154354166 [GRCh38]
ChrX:153582534 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3965C>T (p.Thr1322Met) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV002814367]|Heterotopia, periventricular, X-linked dominant [RCV003777005] |
ChrX:154359746 [GRCh38]
ChrX:153588114 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.4142+10C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003071389] |
ChrX:154359474 [GRCh38]
ChrX:153587842 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3228G>T (p.Gly1076=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003072591] |
ChrX:154360567 [GRCh38]
ChrX:153588935 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.166C>T (p.His56Tyr) |
single nucleotide variant |
Oto-palato-digital syndrome, type I [RCV003152872] |
ChrX:154371080 [GRCh38]
ChrX:153599448 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6185C>T (p.Thr2062Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002582455] |
ChrX:154353042 [GRCh38]
ChrX:153581410 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6174C>G (p.His2058Gln) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003071636] |
ChrX:154353053 [GRCh38]
ChrX:153581421 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4468C>T (p.Pro1490Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002654107] |
ChrX:154358990 [GRCh38]
ChrX:153587358 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6372C>T (p.His2124=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002585093]|not provided [RCV003435877] |
ChrX:154352779 [GRCh38]
ChrX:153581147 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.6205A>T (p.Ile2069Phe) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002605836] |
ChrX:154353022 [GRCh38]
ChrX:153581390 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1245G>A (p.Glu415=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003067899] |
ChrX:154366208 [GRCh38]
ChrX:153594576 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2520C>T (p.Pro840=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003069513] |
ChrX:154362463 [GRCh38]
ChrX:153590831 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7334-13_7334-11del |
microsatellite |
Heterotopia, periventricular, X-linked dominant [RCV002654320] |
ChrX:154349878..154349880 [GRCh38]
ChrX:153578246..153578248 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2566-12C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003052683] |
ChrX:154362344 [GRCh38]
ChrX:153590712 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5360G>A (p.Ser1787Asn) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002676706] |
ChrX:154354437 [GRCh38]
ChrX:153582805 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6769+14C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003073293] |
ChrX:154352167 [GRCh38]
ChrX:153580535 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1978A>G (p.Met660Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003092913] |
ChrX:154364570 [GRCh38]
ChrX:153592938 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4112A>C (p.Asn1371Thr) |
single nucleotide variant |
FLNA-related disorder [RCV004529154]|Heterotopia, periventricular, X-linked dominant [RCV002587336] |
ChrX:154359514 [GRCh38]
ChrX:153587882 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.7837C>G (p.Leu2613Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002610807] |
ChrX:154348956 [GRCh38]
ChrX:153577324 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7227C>T (p.Thr2409=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003294419]|Heterotopia, periventricular, X-linked dominant [RCV003066825] |
ChrX:154350137 [GRCh38]
ChrX:153578505 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4557C>T (p.Tyr1519=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002722047] |
ChrX:154358486 [GRCh38]
ChrX:153586854 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2019C>A (p.Asp673Glu) |
single nucleotide variant |
FLNA-related disorder [RCV004529203]|Heterotopia, periventricular, X-linked dominant [RCV003070075] |
ChrX:154364529 [GRCh38]
ChrX:153592897 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1657A>G (p.Thr553Ala) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003068639] |
ChrX:154365170 [GRCh38]
ChrX:153593538 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2588G>A (p.Arg863Gln) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002943180]|not provided [RCV003146693] |
ChrX:154362310 [GRCh38]
ChrX:153590678 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7256G>A (p.Arg2419Gln) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV002589718] |
ChrX:154350108 [GRCh38]
ChrX:153578476 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.3109G>C (p.Glu1037Gln) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003070844] |
ChrX:154361406 [GRCh38]
ChrX:153589774 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.7085G>A (p.Gly2362Glu) |
single nucleotide variant |
not provided [RCV004794980] |
ChrX:154350980 [GRCh38]
ChrX:153579348 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6769+5G>C |
single nucleotide variant |
not provided [RCV003228513] |
ChrX:154352176 [GRCh38]
ChrX:153580544 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5859_5860+2del |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV003224964] |
ChrX:154353552..154353555 [GRCh38]
ChrX:153581920..153581923 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2747A>T (p.Lys916Met) |
single nucleotide variant |
not provided [RCV003229295] |
ChrX:154362058 [GRCh38]
ChrX:153590426 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.29A>C (p.Gln10Pro) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003171200] |
ChrX:154371217 [GRCh38]
ChrX:153599585 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4172C>G (p.Ala1391Gly) |
single nucleotide variant |
not provided [RCV003159478] |
ChrX:154359377 [GRCh38]
ChrX:153587745 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4749G>C (p.Gln1583His) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003171618] |
ChrX:154358205 [GRCh38]
ChrX:153586573 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.969G>T (p.Pro323=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003171616] |
ChrX:154366750 [GRCh38]
ChrX:153595118 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3147C>G (p.Gly1049=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003171615] |
ChrX:154361368 [GRCh38]
ChrX:153589736 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6774A>G (p.Glu2258=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003171614] |
ChrX:154352017 [GRCh38]
ChrX:153580385 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6085C>T (p.His2029Tyr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003171613] |
ChrX:154353142 [GRCh38]
ChrX:153581510 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.842C>T (p.Pro281Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004285620]|not provided [RCV003228393] |
ChrX:154367423 [GRCh38]
ChrX:153595791 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5406C>T (p.Gly1802=) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV003224680]|Heterotopia, periventricular, X-linked dominant [RCV003779801] |
ChrX:154354391 [GRCh38]
ChrX:153582759 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5983G>A (p.Glu1995Lys) |
single nucleotide variant |
not provided [RCV003225433] |
ChrX:154353335 [GRCh38]
ChrX:153581703 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2596_2599del (p.Val866fs) |
deletion |
not provided [RCV003141686] |
ChrX:154362299..154362302 [GRCh38]
ChrX:153590667..153590670 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.2775C>A (p.Ile925=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003171198] |
ChrX:154362030 [GRCh38]
ChrX:153590398 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.827G>A (p.Arg276Gln) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003171199]|Heterotopia, periventricular, X-linked dominant [RCV003778991]|not provided [RCV003235788] |
ChrX:154367438 [GRCh38]
ChrX:153595806 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.7306G>A (p.Gly2436Arg) |
single nucleotide variant |
FLNA-related disorder [RCV004538898] |
ChrX:154350058 [GRCh38]
ChrX:153578426 [GRCh37]
ChrX:Xq28 |
likely pathogenic|uncertain significance |
| NM_001110556.2(FLNA):c.583G>A (p.Gly195Ser) |
single nucleotide variant |
Oto-palato-digital syndrome, type II [RCV003140285] |
ChrX:154367881 [GRCh38]
ChrX:153596249 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.6522G>A (p.Met2174Ile) |
single nucleotide variant |
not provided [RCV003229325] |
ChrX:154352428 [GRCh38]
ChrX:153580796 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3564G>A (p.Ala1188=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003171611] |
ChrX:154360231 [GRCh38]
ChrX:153588599 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3544C>T (p.Gln1182Ter) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003223383] |
ChrX:154360251 [GRCh38]
ChrX:153588619 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.1019G>T (p.Arg340Leu) |
single nucleotide variant |
not provided [RCV003228282] |
ChrX:154366608 [GRCh38]
ChrX:153594976 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4370G>T (p.Gly1457Val) |
single nucleotide variant |
not provided [RCV003228430] |
ChrX:154359088 [GRCh38]
ChrX:153587456 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2752dup (p.Asp918fs) |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV003224917] |
ChrX:154362052..154362053 [GRCh38]
ChrX:153590420..153590421 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.5548C>T (p.His1850Tyr) |
single nucleotide variant |
not provided [RCV003227251] |
ChrX:154354160 [GRCh38]
ChrX:153582528 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2708G>A (p.Gly903Asp) |
single nucleotide variant |
not provided [RCV003323158] |
ChrX:154362097 [GRCh38]
ChrX:153590465 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.309G>A (p.Gln103=) |
single nucleotide variant |
not provided [RCV003319919] |
ChrX:154370937 [GRCh38]
ChrX:153599305 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.393C>A (p.Asp131Glu) |
single nucleotide variant |
not specified [RCV003324417] |
ChrX:154368071 [GRCh38]
ChrX:153596439 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1207T>C (p.Tyr403His) |
single nucleotide variant |
not provided [RCV003321305] |
ChrX:154366329 [GRCh38]
ChrX:153594697 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4403C>G (p.Pro1468Arg) |
single nucleotide variant |
not provided [RCV003321207] |
ChrX:154359055 [GRCh38]
ChrX:153587423 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2690T>G (p.Val897Gly) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003777381]|not provided [RCV003329963] |
ChrX:154362115 [GRCh38]
ChrX:153590483 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| GRCh37/hg19 Xq28(chrX:153217915-153618382)x2 |
copy number gain |
Syndromic X-linked intellectual disability Lubs type [RCV003329498] |
ChrX:153217915..153618382 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.3847C>T (p.Arg1283Trp) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003777379]|not provided [RCV003329611] |
ChrX:154359864 [GRCh38]
ChrX:153588232 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.1130C>G (p.Ser377Ter) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003337810] |
ChrX:154366406 [GRCh38]
ChrX:153594774 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.5086G>T (p.Val1696Leu) |
single nucleotide variant |
not provided [RCV003325727] |
ChrX:154354956 [GRCh38]
ChrX:153583324 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7545dup (p.Val2516fs) |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV003326043] |
ChrX:154349655..154349656 [GRCh38]
ChrX:153578023..153578024 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.958G>C (p.Val320Leu) |
single nucleotide variant |
not provided [RCV003325681] |
ChrX:154366761 [GRCh38]
ChrX:153595129 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1900C>T (p.Arg634Cys) |
single nucleotide variant |
FLNA-related disorder [RCV004528049]|Heterotopia, periventricular, X-linked dominant [RCV003778238]|not specified [RCV004783058] |
ChrX:154364648 [GRCh38]
ChrX:153593016 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.382G>A (p.Ala128Thr) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV003336019] |
ChrX:154368082 [GRCh38]
ChrX:153596450 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.79G>T (p.Glu27Ter) |
single nucleotide variant |
FLNA-related disorder [RCV004545866] |
ChrX:154371167 [GRCh38]
ChrX:153599535 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.4884C>T (p.Pro1628=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003382150] |
ChrX:154357495 [GRCh38]
ChrX:153585863 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1342C>T (p.Pro448Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003382156] |
ChrX:154366111 [GRCh38]
ChrX:153594479 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3775C>G (p.Gln1259Glu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003382152] |
ChrX:154360020 [GRCh38]
ChrX:153588388 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.45G>T (p.Ala15=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003382147]|Heterotopia, periventricular, X-linked dominant [RCV003778148] |
ChrX:154371201 [GRCh38]
ChrX:153599569 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4919G>C (p.Gly1640Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003382151] |
ChrX:154357460 [GRCh38]
ChrX:153585828 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3709G>A (p.Gly1237Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003382153] |
ChrX:154360086 [GRCh38]
ChrX:153588454 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7137T>C (p.Tyr2379=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003382148] |
ChrX:154350928 [GRCh38]
ChrX:153579296 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1020C>T (p.Arg340=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003382154] |
ChrX:154366607 [GRCh38]
ChrX:153594975 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4017C>G (p.Pro1339=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003382155] |
ChrX:154359609 [GRCh38]
ChrX:153587977 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5616G>A (p.Gly1872=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003382149] |
ChrX:154353985 [GRCh38]
ChrX:153582353 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1209C>A (p.Tyr403Ter) |
single nucleotide variant |
FLNA-related disorder [RCV004545855] |
ChrX:154366327 [GRCh38]
ChrX:153594695 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.4255G>A (p.Ala1419Thr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003779215]|not provided [RCV003480421] |
ChrX:154359294 [GRCh38]
ChrX:153587662 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7088C>A (p.Ala2363Glu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003792266]|not provided [RCV004759306] |
ChrX:154350977 [GRCh38]
ChrX:153579345 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1829-11G>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003791340] |
ChrX:154364730 [GRCh38]
ChrX:153593098 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6540C>A (p.Ser2180Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003790879] |
ChrX:154352410 [GRCh38]
ChrX:153580778 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2220_2223dup (p.Lys742fs) |
duplication |
not provided [RCV003440042] |
ChrX:154364078..154364079 [GRCh38]
ChrX:153592446..153592447 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.797A>C (p.Lys266Thr) |
single nucleotide variant |
not provided [RCV003440043] |
ChrX:154367468 [GRCh38]
ChrX:153595836 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7720C>A (p.Gln2574Lys) |
single nucleotide variant |
FLNA-related disorder [RCV004536767] |
ChrX:154349398 [GRCh38]
ChrX:153577766 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6791G>A (p.Arg2264Gln) |
single nucleotide variant |
not provided [RCV003443785] |
ChrX:154352000 [GRCh38]
ChrX:153580368 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7880_7883dup (p.Val2629fs) |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV003389027] |
ChrX:154348909..154348910 [GRCh38]
ChrX:153577277..153577278 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.124A>G (p.Lys42Glu) |
single nucleotide variant |
FLNA-related disorder [RCV004528715] |
ChrX:154371122 [GRCh38]
ChrX:153599490 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| GRCh37/hg19 Xq28(chrX:152707335-153624154)x2 |
copy number gain |
not provided [RCV003483984] |
ChrX:152707335..153624154 [GRCh37]
ChrX:Xq28 |
pathogenic |
| GRCh37/hg19 Xq28(chrX:153549167-153858492)x2 |
copy number gain |
not provided [RCV003483990] |
ChrX:153549167..153858492 [GRCh37]
ChrX:Xq28 |
pathogenic |
| GRCh37/hg19 Xq28(chrX:152916854-154775938)x2 |
copy number gain |
not provided [RCV003483986] |
ChrX:152916854..154775938 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.5084A>G (p.Glu1695Gly) |
single nucleotide variant |
FLNA-related disorder [RCV004534221] |
ChrX:154354958 [GRCh38]
ChrX:153583326 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6216C>T (p.Thr2072=) |
single nucleotide variant |
not specified [RCV003479719] |
ChrX:154353011 [GRCh38]
ChrX:153581379 [GRCh37]
ChrX:Xq28 |
likely benign |
| GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1 |
copy number loss |
not provided [RCV003483929] |
ChrX:118576752..155233731 [GRCh37]
ChrX:Xq24-28 |
pathogenic |
| GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1 |
copy number loss |
not provided [RCV003483930] |
ChrX:119071609..155233731 [GRCh37]
ChrX:Xq24-28 |
pathogenic |
| NM_001110556.2(FLNA):c.7370C>T (p.Ala2457Val) |
single nucleotide variant |
not provided [RCV003480420] |
ChrX:154349831 [GRCh38]
ChrX:153578199 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| GRCh37/hg19 Xq28(chrX:148598351-154943978)x1 |
copy number loss |
not provided [RCV003483936] |
ChrX:148598351..154943978 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.7582C>T (p.His2528Tyr) |
single nucleotide variant |
not provided [RCV003480419] |
ChrX:154349536 [GRCh38]
ChrX:153577904 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.623-2A>G |
single nucleotide variant |
not provided [RCV003482690] |
ChrX:154367740 [GRCh38]
ChrX:153596108 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.2827G>A (p.Gly943Ser) |
single nucleotide variant |
not provided [RCV003480422] |
ChrX:154361787 [GRCh38]
ChrX:153590155 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5453C>T (p.Pro1818Leu) |
single nucleotide variant |
FLNA-related disorder [RCV004534243] |
ChrX:154354255 [GRCh38]
ChrX:153582623 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4A>T (p.Ser2Cys) |
single nucleotide variant |
not specified [RCV003404926] |
ChrX:154371242 [GRCh38]
ChrX:153599610 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5558-12_5558-10delinsCTT |
indel |
not specified [RCV003404925] |
ChrX:154354053..154354055 [GRCh38]
ChrX:153582421..153582423 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2112G>C (p.Lys704Asn) |
single nucleotide variant |
not provided [RCV003443518] |
ChrX:154364283 [GRCh38]
ChrX:153592651 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2943G>A (p.Glu981=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003791566] |
ChrX:154361671 [GRCh38]
ChrX:153590039 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5056T>G (p.Cys1686Gly) |
single nucleotide variant |
not provided [RCV004777118] |
ChrX:154354986 [GRCh38]
ChrX:153583354 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5293C>T (p.Gln1765Ter) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV004795553] |
ChrX:154354636 [GRCh38]
ChrX:153583004 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.1208A>C (p.Tyr403Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003779216]|not provided [RCV003480423] |
ChrX:154366328 [GRCh38]
ChrX:153594696 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5002G>A (p.Glu1668Lys) |
single nucleotide variant |
Frontometaphyseal dysplasia 1 [RCV004818934] |
ChrX:154355040 [GRCh38]
ChrX:153583408 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4043_4044delinsTT (p.Pro1348Leu) |
indel |
not provided [RCV004790924] |
ChrX:154359582..154359583 [GRCh38]
ChrX:153587950..153587951 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2352C>T (p.Leu784=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004621907]|Heterotopia, periventricular, X-linked dominant [RCV003790872] |
ChrX:154362713 [GRCh38]
ChrX:153591081 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5861-4C>G |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV003448617] |
ChrX:154353461 [GRCh38]
ChrX:153581829 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7825G>T (p.Val2609Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV004789944] |
ChrX:154348968 [GRCh38]
ChrX:153577336 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6007C>T (p.Arg2003Cys) |
single nucleotide variant |
FLNA-related disorder [RCV004536761] |
ChrX:154353311 [GRCh38]
ChrX:153581679 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.358A>G (p.Lys120Glu) |
single nucleotide variant |
FLNA-related disorder [RCV004536763] |
ChrX:154370888 [GRCh38]
ChrX:153599256 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.283C>T (p.Gln95Ter) |
single nucleotide variant |
FLNA-related disorder [RCV004529295] |
ChrX:154370963 [GRCh38]
ChrX:153599331 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.7096G>A (p.Ala2366Thr) |
single nucleotide variant |
FLNA-related disorder [RCV004529743] |
ChrX:154350969 [GRCh38]
ChrX:153579337 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2941G>T (p.Glu981Ter) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003389028] |
ChrX:154361673 [GRCh38]
ChrX:153590041 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.6278A>C (p.Asn2093Thr) |
single nucleotide variant |
not provided [RCV003443867] |
ChrX:154352873 [GRCh38]
ChrX:153581241 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1664C>A (p.Thr555Lys) |
single nucleotide variant |
FLNA-related disorder [RCV004529760]|Familial thoracic aortic aneurysm and aortic dissection [RCV004823149] |
ChrX:154365163 [GRCh38]
ChrX:153593531 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4785_4786del (p.Ile1596fs) |
microsatellite |
FLNA-related disorder [RCV004528043] |
ChrX:154357593..154357594 [GRCh38]
ChrX:153585961..153585962 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.2514C>A (p.Tyr838Ter) |
single nucleotide variant |
FLNA-related disorder [RCV004539007] |
ChrX:154362469 [GRCh38]
ChrX:153590837 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.1988T>C (p.Ile663Thr) |
single nucleotide variant |
FLNA-related disorder [RCV004528047] |
ChrX:154364560 [GRCh38]
ChrX:153592928 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.373+6G>T |
single nucleotide variant |
not provided [RCV003440044] |
ChrX:154370867 [GRCh38]
ChrX:153599235 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6905_6907+4del |
deletion |
FLNA-related disorder [RCV004528053] |
ChrX:154351880..154351886 [GRCh38]
ChrX:153580248..153580254 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.3137C>T (p.Thr1046Ile) |
single nucleotide variant |
FLNA-related disorder [RCV004529776] |
ChrX:154361378 [GRCh38]
ChrX:153589746 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4574A>G (p.Tyr1525Cys) |
single nucleotide variant |
FLNA-related disorder [RCV004531587] |
ChrX:154358469 [GRCh38]
ChrX:153586837 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6839del (p.Lys2280fs) |
deletion |
FLNA-related disorder [RCV004529301] |
ChrX:154351952 [GRCh38]
ChrX:153580320 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.1070C>G (p.Thr357Ser) |
single nucleotide variant |
not provided [RCV003442223] |
ChrX:154366466 [GRCh38]
ChrX:153594834 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2416A>G (p.Ile806Val) |
single nucleotide variant |
FG syndrome 2 [RCV003389374] |
ChrX:154362567 [GRCh38]
ChrX:153590935 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1418C>T (p.Thr473Ile) |
single nucleotide variant |
FLNA-related disorder [RCV004529790] |
ChrX:154366035 [GRCh38]
ChrX:153594403 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6019G>T (p.Val2007Leu) |
single nucleotide variant |
FLNA-related disorder [RCV004531597] |
ChrX:154353299 [GRCh38]
ChrX:153581667 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1213G>T (p.Glu405Ter) |
single nucleotide variant |
FLNA-related disorder [RCV004528008] |
ChrX:154366323 [GRCh38]
ChrX:153594691 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.2466C>G (p.Ile822Met) |
single nucleotide variant |
FLNA-related disorder [RCV004527935] |
ChrX:154362517 [GRCh38]
ChrX:153590885 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1123G>A (p.Asp375Asn) |
single nucleotide variant |
FLNA-related disorder [RCV004528727] |
ChrX:154366413 [GRCh38]
ChrX:153594781 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1817_1819del (p.Val606del) |
deletion |
FLNA-related disorder [RCV004534284] |
ChrX:154364830..154364832 [GRCh38]
ChrX:153593198..153593200 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1675C>T (p.Gln559Ter) |
single nucleotide variant |
not provided [RCV003441498] |
ChrX:154365152 [GRCh38]
ChrX:153593520 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.2603C>T (p.Pro868Leu) |
single nucleotide variant |
FLNA-related disorder [RCV004529328]|Heterotopia, periventricular, X-linked dominant [RCV003778273] |
ChrX:154362295 [GRCh38]
ChrX:153590663 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2026_2041del (p.Lys676fs) |
deletion |
FLNA-related disorder [RCV004527828] |
ChrX:154364354..154364369 [GRCh38]
ChrX:153592722..153592737 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.7500G>A (p.Lys2500=) |
single nucleotide variant |
not provided [RCV003440038] |
ChrX:154349701 [GRCh38]
ChrX:153578069 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5218-6C>T |
single nucleotide variant |
not provided [RCV003440039] |
ChrX:154354717 [GRCh38]
ChrX:153583085 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3607C>A (p.Leu1203Ile) |
single nucleotide variant |
not provided [RCV003440040] |
ChrX:154360188 [GRCh38]
ChrX:153588556 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2391C>G (p.Ala797=) |
single nucleotide variant |
not provided [RCV003440041] |
ChrX:154362674 [GRCh38]
ChrX:153591042 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6511A>G (p.Ile2171Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003784658] |
ChrX:154352439 [GRCh38]
ChrX:153580807 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4599-12A>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003796275] |
ChrX:154358367 [GRCh38]
ChrX:153586735 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1169G>T (p.Gly390Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003807510] |
ChrX:154366367 [GRCh38]
ChrX:153594735 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.868+19G>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003804044] |
ChrX:154367378 [GRCh38]
ChrX:153595746 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6809G>A (p.Gly2270Asp) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003806535] |
ChrX:154351982 [GRCh38]
ChrX:153580350 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.123G>A (p.Trp41Ter) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003639372] |
ChrX:154371123 [GRCh38]
ChrX:153599491 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.7779G>T (p.Gly2593=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003789758] |
ChrX:154349014 [GRCh38]
ChrX:153577382 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2405-3C>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003792283] |
ChrX:154362581 [GRCh38]
ChrX:153590949 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5218-8C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003797107] |
ChrX:154354719 [GRCh38]
ChrX:153583087 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5919C>T (p.Ile1973=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003807357] |
ChrX:154353399 [GRCh38]
ChrX:153581767 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3984G>A (p.Leu1328=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003806649] |
ChrX:154359642 [GRCh38]
ChrX:153588010 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.510G>C (p.Gln170His) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003806653] |
ChrX:154367954 [GRCh38]
ChrX:153596322 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2136+7C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003787008] |
ChrX:154364252 [GRCh38]
ChrX:153592620 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4303+6G>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003786116] |
ChrX:154359240 [GRCh38]
ChrX:153587608 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.23C>T (p.Ala8Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003784685] |
ChrX:154371223 [GRCh38]
ChrX:153599591 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.373+7dup |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV003795024] |
ChrX:154370865..154370866 [GRCh38]
ChrX:153599233..153599234 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5125G>A (p.Asp1709Asn) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003797328] |
ChrX:154354917 [GRCh38]
ChrX:153583285 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.75C>A (p.Asp25Glu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003807942] |
ChrX:154371171 [GRCh38]
ChrX:153599539 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5217+14G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003790855] |
ChrX:154354811 [GRCh38]
ChrX:153583179 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2842A>G (p.Asn948Asp) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003795129] |
ChrX:154361772 [GRCh38]
ChrX:153590140 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7757-20G>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003795405] |
ChrX:154349056 [GRCh38]
ChrX:153577424 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6971C>T (p.Pro2324Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003807660] |
ChrX:154351633 [GRCh38]
ChrX:153580001 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1439C>A (p.Pro480Gln) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003807952] |
ChrX:154365477 [GRCh38]
ChrX:153593845 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2827-4C>G |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004823213]|Heterotopia, periventricular, X-linked dominant [RCV003782340] |
ChrX:154361791 [GRCh38]
ChrX:153590159 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3489C>T (p.Val1163=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003805412] |
ChrX:154360306 [GRCh38]
ChrX:153588674 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1623G>T (p.Glu541Asp) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003782480] |
ChrX:154365204 [GRCh38]
ChrX:153593572 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.7895G>T (p.Trp2632Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003796681] |
ChrX:154348898 [GRCh38]
ChrX:153577266 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1093A>G (p.Ile365Val) |
single nucleotide variant |
FLNA-related disorder [RCV004542278]|Heterotopia, periventricular, X-linked dominant [RCV003806912] |
ChrX:154366443 [GRCh38]
ChrX:153594811 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.3124G>A (p.Glu1042Lys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003790163] |
ChrX:154361391 [GRCh38]
ChrX:153589759 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1961T>C (p.Ile654Thr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003785017] |
ChrX:154364587 [GRCh38]
ChrX:153592955 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4338A>G (p.Thr1446=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003804452] |
ChrX:154359120 [GRCh38]
ChrX:153587488 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5084_5085del (p.Glu1695fs) |
microsatellite |
Heterotopia, periventricular, X-linked dominant [RCV003804462] |
ChrX:154354957..154354958 [GRCh38]
ChrX:153583325..153583326 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.3987C>T (p.His1329=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003805816] |
ChrX:154359639 [GRCh38]
ChrX:153588007 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1867T>C (p.Cys623Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003805850] |
ChrX:154364681 [GRCh38]
ChrX:153593049 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3928C>G (p.Gln1310Glu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003807969] |
ChrX:154359783 [GRCh38]
ChrX:153588151 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5202C>T (p.Ser1734=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003807971] |
ChrX:154354840 [GRCh38]
ChrX:153583208 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2629G>A (p.Ala877Thr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003780915] |
ChrX:154362269 [GRCh38]
ChrX:153590637 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.7371G>A (p.Ala2457=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004621905]|Heterotopia, periventricular, X-linked dominant [RCV003792807] |
ChrX:154349830 [GRCh38]
ChrX:153578198 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5634A>G (p.Gly1878=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003795403] |
ChrX:154353967 [GRCh38]
ChrX:153582335 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4623T>C (p.Pro1541=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003796485] |
ChrX:154358331 [GRCh38]
ChrX:153586699 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1710G>A (p.Val570=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003807783] |
ChrX:154364939 [GRCh38]
ChrX:153593307 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1228+12C>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003782528] |
ChrX:154366296 [GRCh38]
ChrX:153594664 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1634T>C (p.Met545Thr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003805578] |
ChrX:154365193 [GRCh38]
ChrX:153593561 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3249C>T (p.Gly1083=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003794375] |
ChrX:154360546 [GRCh38]
ChrX:153588914 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1946G>A (p.Cys649Tyr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003797531] |
ChrX:154364602 [GRCh38]
ChrX:153592970 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1125T>G (p.Asp375Glu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003790384] |
ChrX:154366411 [GRCh38]
ChrX:153594779 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7017C>A (p.Ser2339Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003782764] |
ChrX:154351587 [GRCh38]
ChrX:153579955 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4215C>T (p.Asn1405=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003783988] |
ChrX:154359334 [GRCh38]
ChrX:153587702 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.374-16A>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003794437] |
ChrX:154368106 [GRCh38]
ChrX:153596474 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7333+13G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003782834] |
ChrX:154350018 [GRCh38]
ChrX:153578386 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2874G>A (p.Lys958=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003782896] |
ChrX:154361740 [GRCh38]
ChrX:153590108 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1228+19G>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003785310] |
ChrX:154366289 [GRCh38]
ChrX:153594657 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2960A>G (p.Lys987Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003807868] |
ChrX:154361555 [GRCh38]
ChrX:153589923 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7332A>G (p.Thr2444=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003794459] |
ChrX:154350032 [GRCh38]
ChrX:153578400 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2023-5G>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003805963] |
ChrX:154364377 [GRCh38]
ChrX:153592745 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.53GCG[4] (p.Gly20_Val21insGly) |
microsatellite |
Heterotopia, periventricular, X-linked dominant [RCV003793295] |
ChrX:154371184..154371185 [GRCh38]
ChrX:153599552..153599553 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7636C>T (p.Gln2546Ter) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004823229]|Heterotopia, periventricular, X-linked dominant [RCV003807755] |
ChrX:154349482 [GRCh38]
ChrX:153577850 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.6564C>T (p.Ala2188=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003784156] |
ChrX:154352386 [GRCh38]
ChrX:153580754 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.1472A>T (p.Gln491Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003785470] |
ChrX:154365444 [GRCh38]
ChrX:153593812 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7899G>A (p.Gly2633=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003796834] |
ChrX:154348894 [GRCh38]
ChrX:153577262 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3498A>G (p.Ser1166=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003784401] |
ChrX:154360297 [GRCh38]
ChrX:153588665 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2405-10C>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003807762] |
ChrX:154362588 [GRCh38]
ChrX:153590956 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7179C>T (p.Ile2393=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003797688] |
ChrX:154350185 [GRCh38]
ChrX:153578553 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3852T>C (p.Ala1284=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003787938] |
ChrX:154359859 [GRCh38]
ChrX:153588227 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2713G>A (p.Gly905Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003793460] |
ChrX:154362092 [GRCh38]
ChrX:153590460 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3081C>G (p.Asp1027Glu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003794841] |
ChrX:154361434 [GRCh38]
ChrX:153589802 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6302C>T (p.Thr2101Met) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003793608] |
ChrX:154352849 [GRCh38]
ChrX:153581217 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7156+3G>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003807669] |
ChrX:154350906 [GRCh38]
ChrX:153579274 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5872A>C (p.Met1958Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003795495] |
ChrX:154353446 [GRCh38]
ChrX:153581814 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7053C>T (p.Ala2351=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003786667] |
ChrX:154351012 [GRCh38]
ChrX:153579380 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.435C>A (p.Ile145=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003792089] |
ChrX:154368029 [GRCh38]
ChrX:153596397 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6493A>C (p.Lys2165Gln) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003785349] |
ChrX:154352562 [GRCh38]
ChrX:153580930 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7664C>T (p.Ala2555Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003806937] |
ChrX:154349454 [GRCh38]
ChrX:153577822 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.374-13C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003787288] |
ChrX:154368103 [GRCh38]
ChrX:153596471 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5860+17G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003780193] |
ChrX:154353537 [GRCh38]
ChrX:153581905 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7732T>C (p.Phe2578Leu) |
single nucleotide variant |
Frontometaphyseal dysplasia 1 [RCV003512235] |
ChrX:154349386 [GRCh38]
ChrX:153577754 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.5488G>A (p.Val1830Met) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003792915] |
ChrX:154354220 [GRCh38]
ChrX:153582588 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5687-15C>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003805245] |
ChrX:154353742 [GRCh38]
ChrX:153582110 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.902G>A (p.Arg301Gln) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003805251]|not provided [RCV004697318] |
ChrX:154366817 [GRCh38]
ChrX:153595185 [GRCh37]
ChrX:Xq28 |
benign|uncertain significance |
| NM_001110556.2(FLNA):c.5131T>A (p.Phe1711Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003788989] |
ChrX:154354911 [GRCh38]
ChrX:153583279 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.692A>G (p.Gln231Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003782697] |
ChrX:154367669 [GRCh38]
ChrX:153596037 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.417C>T (p.Gly139=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003793690] |
ChrX:154368047 [GRCh38]
ChrX:153596415 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1201A>G (p.Thr401Ala) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003804610] |
ChrX:154366335 [GRCh38]
ChrX:153594703 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7363A>G (p.Ser2455Gly) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003784686] |
ChrX:154349838 [GRCh38]
ChrX:153578206 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3651C>T (p.His1217=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003796361] |
ChrX:154360144 [GRCh38]
ChrX:153588512 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5416+13T>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003791075] |
ChrX:154354368 [GRCh38]
ChrX:153582736 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5687-19C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003783509] |
ChrX:154353746 [GRCh38]
ChrX:153582114 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1253T>C (p.Val418Ala) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003795184] |
ChrX:154366200 [GRCh38]
ChrX:153594568 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2767G>A (p.Val923Met) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003780419] |
ChrX:154362038 [GRCh38]
ChrX:153590406 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.*11C>T |
single nucleotide variant |
not specified [RCV003489737] |
ChrX:154348838 [GRCh38]
ChrX:153577206 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7290C>T (p.Gly2430=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003782774] |
ChrX:154350074 [GRCh38]
ChrX:153578442 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5217+18G>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003782809] |
ChrX:154354807 [GRCh38]
ChrX:153583175 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1552A>G (p.Thr518Ala) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003804642] |
ChrX:154365364 [GRCh38]
ChrX:153593732 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6379G>T (p.Gly2127Cys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003784772] |
ChrX:154352772 [GRCh38]
ChrX:153581140 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.623-8C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003804943] |
ChrX:154367746 [GRCh38]
ChrX:153596114 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7432G>A (p.Glu2478Lys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003782061]|not provided [RCV004767463] |
ChrX:154349769 [GRCh38]
ChrX:153578137 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.321G>A (p.Val107=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003782065] |
ChrX:154370925 [GRCh38]
ChrX:153599293 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6539G>A (p.Ser2180Asn) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003795171] |
ChrX:154352411 [GRCh38]
ChrX:153580779 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2739A>G (p.Gly913=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003806032] |
ChrX:154362066 [GRCh38]
ChrX:153590434 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5350G>C (p.Asp1784His) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003782872] |
ChrX:154354447 [GRCh38]
ChrX:153582815 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2281-25TTGCCC[3] |
microsatellite |
Heterotopia, periventricular, X-linked dominant [RCV003793937] |
ChrX:154362797..154362798 [GRCh38]
ChrX:153591165..153591166 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7023+10C>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003795209] |
ChrX:154351571 [GRCh38]
ChrX:153579939 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2405-7G>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003785495] |
ChrX:154362585 [GRCh38]
ChrX:153590953 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.276G>A (p.Lys92=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003793216] |
ChrX:154370970 [GRCh38]
ChrX:153599338 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3275C>G (p.Thr1092Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003804180] |
ChrX:154360520 [GRCh38]
ChrX:153588888 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4746C>T (p.Val1582=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004621895]|Heterotopia, periventricular, X-linked dominant [RCV003783691] |
ChrX:154358208 [GRCh38]
ChrX:153586576 [GRCh37]
ChrX:Xq28 |
benign|likely benign |
| NM_001110556.2(FLNA):c.4528A>T (p.Asn1510Tyr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003804214] |
ChrX:154358515 [GRCh38]
ChrX:153586883 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4945+9G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003785241] |
ChrX:154357425 [GRCh38]
ChrX:153585793 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.145_146del (p.Phe49fs) |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV003804259] |
ChrX:154371100..154371101 [GRCh38]
ChrX:153599468..153599469 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.4935C>T (p.Cys1645=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003805522] |
ChrX:154357444 [GRCh38]
ChrX:153585812 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6613G>A (p.Ala2205Thr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003806742]|not specified [RCV004801405] |
ChrX:154352337 [GRCh38]
ChrX:153580705 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.5241G>A (p.Ser1747=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003786937] |
ChrX:154354688 [GRCh38]
ChrX:153583056 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2022+9C>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003781139] |
ChrX:154364517 [GRCh38]
ChrX:153592885 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1712G>A (p.Gly571Asp) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003804284] |
ChrX:154364937 [GRCh38]
ChrX:153593305 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6685A>T (p.Thr2229Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003804889] |
ChrX:154352265 [GRCh38]
ChrX:153580633 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5416+20G>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003806114] |
ChrX:154354361 [GRCh38]
ChrX:153582729 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6215C>T (p.Thr2072Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003795895] |
ChrX:154353012 [GRCh38]
ChrX:153581380 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.720+9G>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003786213] |
ChrX:154367632 [GRCh38]
ChrX:153596000 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4143-20C>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003787860] |
ChrX:154359426 [GRCh38]
ChrX:153587794 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5368C>G (p.Pro1790Ala) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003791747] |
ChrX:154354429 [GRCh38]
ChrX:153582797 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3060G>A (p.Val1020=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003785081] |
ChrX:154361455 [GRCh38]
ChrX:153589823 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5314-3C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003795367] |
ChrX:154354486 [GRCh38]
ChrX:153582854 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.752A>G (p.Asn251Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003789350] |
ChrX:154367513 [GRCh38]
ChrX:153595881 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1400G>A (p.Arg467His) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003783103] |
ChrX:154366053 [GRCh38]
ChrX:153594421 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.4852A>G (p.Ile1618Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003793407] |
ChrX:154357527 [GRCh38]
ChrX:153585895 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3158C>G (p.Pro1053Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003805654] |
ChrX:154361357 [GRCh38]
ChrX:153589725 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7930G>C (p.Val2644Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003805584] |
ChrX:154348863 [GRCh38]
ChrX:153577231 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.4391G>A (p.Arg1464His) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003806786] |
ChrX:154359067 [GRCh38]
ChrX:153587435 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.1065+16G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003788735] |
ChrX:154366546 [GRCh38]
ChrX:153594914 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4518C>T (p.Thr1506=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003781275] |
ChrX:154358525 [GRCh38]
ChrX:153586893 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6252T>C (p.Ile2084=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003781531] |
ChrX:154352899 [GRCh38]
ChrX:153581267 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5258G>C (p.Arg1753Pro) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003804875] |
ChrX:154354671 [GRCh38]
ChrX:153583039 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3672C>T (p.Leu1224=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003805577] |
ChrX:154360123 [GRCh38]
ChrX:153588491 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7524G>A (p.Gly2508=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003785663] |
ChrX:154349677 [GRCh38]
ChrX:153578045 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7344T>A (p.Ala2448=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003793513] |
ChrX:154349857 [GRCh38]
ChrX:153578225 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5745C>T (p.Asn1915=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004621908]|Heterotopia, periventricular, X-linked dominant [RCV003796621] |
ChrX:154353669 [GRCh38]
ChrX:153582037 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6928A>C (p.Lys2310Gln) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003781650] |
ChrX:154351676 [GRCh38]
ChrX:153580044 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6848T>G (p.Ile2283Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003791963] |
ChrX:154351943 [GRCh38]
ChrX:153580311 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1788C>T (p.Asp596=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003792820] |
ChrX:154364861 [GRCh38]
ChrX:153593229 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2395G>A (p.Ala799Thr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003807453] |
ChrX:154362670 [GRCh38]
ChrX:153591038 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2784C>T (p.His928=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003786836] |
ChrX:154362021 [GRCh38]
ChrX:153590389 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4938T>C (p.Thr1646=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003787643] |
ChrX:154357441 [GRCh38]
ChrX:153585809 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.49C>G (p.Pro17Ala) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003781204] |
ChrX:154371197 [GRCh38]
ChrX:153599565 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3408C>T (p.Ile1136=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003795014] |
ChrX:154360387 [GRCh38]
ChrX:153588755 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5254C>T (p.Leu1752=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003786012] |
ChrX:154354675 [GRCh38]
ChrX:153583043 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6144T>A (p.Ser2048Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003788608] |
ChrX:154353083 [GRCh38]
ChrX:153581451 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.5241G>C (p.Ser1747=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003784213] |
ChrX:154354688 [GRCh38]
ChrX:153583056 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2935C>G (p.Leu979Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003805292] |
ChrX:154361679 [GRCh38]
ChrX:153590047 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4599-8C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003785665] |
ChrX:154358363 [GRCh38]
ChrX:153586731 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1065+12G>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003790641] |
ChrX:154366550 [GRCh38]
ChrX:153594918 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5416+4A>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003795086] |
ChrX:154354377 [GRCh38]
ChrX:153582745 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4523C>T (p.Thr1508Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003795123] |
ChrX:154358520 [GRCh38]
ChrX:153586888 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7223_7224delinsTT (p.Gly2408Val) |
indel |
Heterotopia, periventricular, X-linked dominant [RCV003796392] |
ChrX:154350140..154350141 [GRCh38]
ChrX:153578508..153578509 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7125G>C (p.Leu2375=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003782543] |
ChrX:154350940 [GRCh38]
ChrX:153579308 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.495G>A (p.Lys165=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003790093] |
ChrX:154367969 [GRCh38]
ChrX:153596337 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.2848A>G (p.Thr950Ala) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003781300] |
ChrX:154361766 [GRCh38]
ChrX:153590134 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5773C>T (p.Leu1925=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003805353] |
ChrX:154353641 [GRCh38]
ChrX:153582009 [GRCh37]
ChrX:Xq28 |
likely benign |
| NC_000023.11:g.154350197_154350208del |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV003807030] |
ChrX:154350196..154350207 [GRCh38]
ChrX:153578564..153578575 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1601_1603dup (p.Gly534_Asp535insGly) |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV003789541] |
ChrX:154365223..154365224 [GRCh38]
ChrX:153593591..153593592 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1769T>A (p.Val590Asp) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003785309] |
ChrX:154364880 [GRCh38]
ChrX:153593248 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1482T>C (p.Gly494=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003786111] |
ChrX:154365434 [GRCh38]
ChrX:153593802 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.988-13C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003786112] |
ChrX:154366652 [GRCh38]
ChrX:153595020 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1931C>T (p.Ala644Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003807282] |
ChrX:154364617 [GRCh38]
ChrX:153592985 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4375A>G (p.Ser1459Gly) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003797072] |
ChrX:154359083 [GRCh38]
ChrX:153587451 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4970-16C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003793060] |
ChrX:154355088 [GRCh38]
ChrX:153583456 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6023-11C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003788786] |
ChrX:154353215 [GRCh38]
ChrX:153581583 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3406A>T (p.Ile1136Phe) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003784861] |
ChrX:154360389 [GRCh38]
ChrX:153588757 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.2272C>T (p.Pro758Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003786140] |
ChrX:154364030 [GRCh38]
ChrX:153592398 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3686A>G (p.Tyr1229Cys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003782893] |
ChrX:154360109 [GRCh38]
ChrX:153588477 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2657-18T>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003788833] |
ChrX:154362166 [GRCh38]
ChrX:153590534 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1927T>G (p.Tyr643Asp) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003779409] |
ChrX:154364621 [GRCh38]
ChrX:153592989 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2566-13C>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003796531] |
ChrX:154362345 [GRCh38]
ChrX:153590713 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.228G>A (p.Arg76=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003807316] |
ChrX:154371018 [GRCh38]
ChrX:153599386 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2281-14C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003791635] |
ChrX:154362798 [GRCh38]
ChrX:153591166 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5416+12C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003783955] |
ChrX:154354369 [GRCh38]
ChrX:153582737 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6735C>T (p.Gly2245=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003795263] |
ChrX:154352215 [GRCh38]
ChrX:153580583 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4632T>C (p.Asp1544=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003796887] |
ChrX:154358322 [GRCh38]
ChrX:153586690 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3255C>A (p.Pro1085=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003796888] |
ChrX:154360540 [GRCh38]
ChrX:153588908 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4772C>G (p.Pro1591Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003793393] |
ChrX:154357607 [GRCh38]
ChrX:153585975 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5472A>C (p.Lys1824Asn) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003789598] |
ChrX:154354236 [GRCh38]
ChrX:153582604 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.2418C>T (p.Ile806=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003795307] |
ChrX:154362565 [GRCh38]
ChrX:153590933 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7653T>G (p.Gly2551=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003786575] |
ChrX:154349465 [GRCh38]
ChrX:153577833 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5883C>G (p.Ser1961=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003795785] |
ChrX:154353435 [GRCh38]
ChrX:153581803 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6152G>T (p.Arg2051Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003795786] |
ChrX:154353075 [GRCh38]
ChrX:153581443 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1692-13C>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003796481] |
ChrX:154364970 [GRCh38]
ChrX:153593338 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7409C>T (p.Ser2470Phe) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003807112] |
ChrX:154349792 [GRCh38]
ChrX:153578160 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3514C>T (p.Arg1172Trp) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003794869] |
ChrX:154360281 [GRCh38]
ChrX:153588649 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.4755+3G>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003805592] |
ChrX:154358196 [GRCh38]
ChrX:153586564 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6644A>G (p.Lys2215Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003806425] |
ChrX:154352306 [GRCh38]
ChrX:153580674 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.68C>A (p.Thr23Lys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003786306] |
ChrX:154371178 [GRCh38]
ChrX:153599546 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1466G>T (p.Gly489Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003786309] |
ChrX:154365450 [GRCh38]
ChrX:153593818 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4142+20C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003785551] |
ChrX:154359464 [GRCh38]
ChrX:153587832 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7088C>T (p.Ala2363Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003785948]|not provided [RCV004790604] |
ChrX:154350977 [GRCh38]
ChrX:153579345 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7405C>T (p.Pro2469Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004366569]|Heterotopia, periventricular, X-linked dominant [RCV003789868] |
ChrX:154349796 [GRCh38]
ChrX:153578164 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1066-7G>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003784645] |
ChrX:154366477 [GRCh38]
ChrX:153594845 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.597C>T (p.Gly199=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003780572] |
ChrX:154367867 [GRCh38]
ChrX:153596235 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3256G>T (p.Ala1086Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003789912]|not provided [RCV004697315] |
ChrX:154360539 [GRCh38]
ChrX:153588907 [GRCh37]
ChrX:Xq28 |
likely benign|uncertain significance |
| NM_001110556.2(FLNA):c.7612C>G (p.Leu2538Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003796970] |
ChrX:154349506 [GRCh38]
ChrX:153577874 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2515A>G (p.Thr839Ala) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003804140] |
ChrX:154362468 [GRCh38]
ChrX:153590836 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.6208A>G (p.Ile2070Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003793977] |
ChrX:154353019 [GRCh38]
ChrX:153581387 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3207+10G>A |
single nucleotide variant |
FLNA-related disorder [RCV004539122]|Heterotopia, periventricular, X-linked dominant [RCV003780618] |
ChrX:154361298 [GRCh38]
ChrX:153589666 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5785C>T (p.Pro1929Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003805244] |
ChrX:154353629 [GRCh38]
ChrX:153581997 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7579C>A (p.Leu2527Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003804455] |
ChrX:154349539 [GRCh38]
ChrX:153577907 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5660C>A (p.Thr1887Asn) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003781770] |
ChrX:154353941 [GRCh38]
ChrX:153582309 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.240G>C (p.Leu80=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004366559]|Heterotopia, periventricular, X-linked dominant [RCV003781775] |
ChrX:154371006 [GRCh38]
ChrX:153599374 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6545C>T (p.Ser2182Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003787161] |
ChrX:154352405 [GRCh38]
ChrX:153580773 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3490A>G (p.Lys1164Glu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003787026] |
ChrX:154360305 [GRCh38]
ChrX:153588673 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.43G>T (p.Ala15Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003780656] |
ChrX:154371203 [GRCh38]
ChrX:153599571 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2292A>C (p.Gly764=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003793181] |
ChrX:154362773 [GRCh38]
ChrX:153591141 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4488A>G (p.Pro1496=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003787226] |
ChrX:154358555 [GRCh38]
ChrX:153586923 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.7365C>T (p.Ser2455=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003788336] |
ChrX:154349836 [GRCh38]
ChrX:153578204 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.7715T>C (p.Val2572Ala) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003789092] |
ChrX:154349403 [GRCh38]
ChrX:153577771 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.5205C>T (p.Pro1735=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003789788] |
ChrX:154354837 [GRCh38]
ChrX:153583205 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4567G>A (p.Val1523Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003794325] |
ChrX:154358476 [GRCh38]
ChrX:153586844 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1828+6T>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003789876] |
ChrX:154364815 [GRCh38]
ChrX:153593183 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7323C>T (p.Gly2441=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003784088] |
ChrX:154350041 [GRCh38]
ChrX:153578409 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.1643G>A (p.Gly548Glu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003791219] |
ChrX:154365184 [GRCh38]
ChrX:153593552 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2853T>C (p.Tyr951=) |
single nucleotide variant |
not specified [RCV003489660] |
ChrX:154361761 [GRCh38]
ChrX:153590129 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3090G>A (p.Val1030=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003787471] |
ChrX:154361425 [GRCh38]
ChrX:153589793 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1243G>A (p.Glu415Lys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003789935] |
ChrX:154366210 [GRCh38]
ChrX:153594578 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.5910C>T (p.Asp1970=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003781205] |
ChrX:154353408 [GRCh38]
ChrX:153581776 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.974G>A (p.Gly325Glu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003792383] |
ChrX:154366745 [GRCh38]
ChrX:153595113 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5417-2A>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003783008] |
ChrX:154354293 [GRCh38]
ChrX:153582661 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.2142T>C (p.Asn714=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003791386] |
ChrX:154364160 [GRCh38]
ChrX:153592528 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7761C>T (p.Asn2587=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003789948] |
ChrX:154349032 [GRCh38]
ChrX:153577400 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.868+17A>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003783482] |
ChrX:154367380 [GRCh38]
ChrX:153595748 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2404+14G>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003793795] |
ChrX:154362647 [GRCh38]
ChrX:153591015 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4143-19G>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003790612] |
ChrX:154359425 [GRCh38]
ChrX:153587793 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6422A>G (p.Lys2141Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003792314] |
ChrX:154352633 [GRCh38]
ChrX:153581001 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.832A>G (p.Lys278Glu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003792325] |
ChrX:154367433 [GRCh38]
ChrX:153595801 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.374-2A>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003783797] |
ChrX:154368092 [GRCh38]
ChrX:153596460 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.2366C>T (p.Pro789Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003791612] |
ChrX:154362699 [GRCh38]
ChrX:153591067 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5616G>T (p.Gly1872=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003792370] |
ChrX:154353985 [GRCh38]
ChrX:153582353 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5968C>T (p.Pro1990Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003789282] |
ChrX:154353350 [GRCh38]
ChrX:153581718 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2827-19C>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003787939] |
ChrX:154361806 [GRCh38]
ChrX:153590174 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.33C>T (p.Ser11=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003787620] |
ChrX:154371213 [GRCh38]
ChrX:153599581 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.1692-19G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003787690] |
ChrX:154364976 [GRCh38]
ChrX:153593344 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2782C>T (p.His928Tyr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003781324] |
ChrX:154362023 [GRCh38]
ChrX:153590391 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6596G>C (p.Cys2199Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003793000] |
ChrX:154352354 [GRCh38]
ChrX:153580722 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5128A>G (p.Ile1710Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003782727] |
ChrX:154354914 [GRCh38]
ChrX:153583282 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4546G>A (p.Glu1516Lys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003788103] |
ChrX:154358497 [GRCh38]
ChrX:153586865 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6094A>G (p.Ser2032Gly) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003788778] |
ChrX:154353133 [GRCh38]
ChrX:153581501 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2601G>T (p.Glu867Asp) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003789518] |
ChrX:154362297 [GRCh38]
ChrX:153590665 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5558-3C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003786634] |
ChrX:154354046 [GRCh38]
ChrX:153582414 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2997T>C (p.Gly999=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003781330] |
ChrX:154361518 [GRCh38]
ChrX:153589886 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1406C>G (p.Pro469Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003782299] |
ChrX:154366047 [GRCh38]
ChrX:153594415 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.822C>T (p.Pro274=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003783145] |
ChrX:154367443 [GRCh38]
ChrX:153595811 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3125A>G (p.Glu1042Gly) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003791837] |
ChrX:154361390 [GRCh38]
ChrX:153589758 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4303+14G>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003786671] |
ChrX:154359232 [GRCh38]
ChrX:153587600 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7554C>G (p.Gly2518=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003789592] |
ChrX:154349564 [GRCh38]
ChrX:153577932 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3827C>T (p.Thr1276Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003793480] |
ChrX:154359884 [GRCh38]
ChrX:153588252 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3806-14C>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003787955] |
ChrX:154359919 [GRCh38]
ChrX:153588287 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2631C>T (p.Ala877=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003780286] |
ChrX:154362267 [GRCh38]
ChrX:153590635 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4428C>T (p.Ser1476=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003780310] |
ChrX:154359030 [GRCh38]
ChrX:153587398 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.7333+11C>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003788192] |
ChrX:154350020 [GRCh38]
ChrX:153578388 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.910T>G (p.Phe304Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003780910] |
ChrX:154366809 [GRCh38]
ChrX:153595177 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1229G>A (p.Gly410Glu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003783888] |
ChrX:154366224 [GRCh38]
ChrX:153594592 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3070C>G (p.Leu1024Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003790368] |
ChrX:154361445 [GRCh38]
ChrX:153589813 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.874G>A (p.Glu292Lys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003790743] |
ChrX:154366845 [GRCh38]
ChrX:153595213 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3409A>G (p.Asn1137Asp) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003800875] |
ChrX:154360386 [GRCh38]
ChrX:153588754 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.323C>T (p.Ser108Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003800876] |
ChrX:154370923 [GRCh38]
ChrX:153599291 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.258G>A (p.Gln86=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004823233]|Heterotopia, periventricular, X-linked dominant [RCV003809056] |
ChrX:154370988 [GRCh38]
ChrX:153599356 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6789C>T (p.Thr2263=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003812732] |
ChrX:154352002 [GRCh38]
ChrX:153580370 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.988-14C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003798966] |
ChrX:154366653 [GRCh38]
ChrX:153595021 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6057C>T (p.His2019=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003808083] |
ChrX:154353170 [GRCh38]
ChrX:153581538 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7157-11C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003809259] |
ChrX:154350218 [GRCh38]
ChrX:153578586 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6687C>T (p.Thr2229=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003808115] |
ChrX:154352263 [GRCh38]
ChrX:153580631 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.4354A>G (p.Lys1452Glu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003809339] |
ChrX:154359104 [GRCh38]
ChrX:153587472 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7900G>A (p.Asp2634Asn) |
single nucleotide variant |
not provided [RCV003740559] |
ChrX:154348893 [GRCh38]
ChrX:153577261 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7860C>G (p.Leu2620=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003801356] |
ChrX:154348933 [GRCh38]
ChrX:153577301 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1062_1063del (p.His354fs) |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV003800209] |
ChrX:154366564..154366565 [GRCh38]
ChrX:153594932..153594933 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.5558-10C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003798060] |
ChrX:154354053 [GRCh38]
ChrX:153582421 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5558-12T>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003798061]|not provided [RCV004775496] |
ChrX:154354055 [GRCh38]
ChrX:153582423 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4283A>G (p.Tyr1428Cys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003798126] |
ChrX:154359266 [GRCh38]
ChrX:153587634 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1525_1528del (p.Gly509fs) |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV003808435] |
ChrX:154365388..154365391 [GRCh38]
ChrX:153593756..153593759 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.7673_7674delinsAG (p.Ser2558Lys) |
indel |
Heterotopia, periventricular, X-linked dominant [RCV003812779] |
ChrX:154349444..154349445 [GRCh38]
ChrX:153577812..153577813 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7369G>A (p.Ala2457Thr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003809541] |
ChrX:154349832 [GRCh38]
ChrX:153578200 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2137-8C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003799324] |
ChrX:154364173 [GRCh38]
ChrX:153592541 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.81G>C (p.Glu27Asp) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003810605] |
ChrX:154371165 [GRCh38]
ChrX:153599533 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.16T>G (p.Ser6Ala) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003810606] |
ChrX:154371230 [GRCh38]
ChrX:153599598 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5993T>C (p.Leu1998Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003800474] |
ChrX:154353325 [GRCh38]
ChrX:153581693 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1299G>C (p.Gln433His) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003799389] |
ChrX:154366154 [GRCh38]
ChrX:153594522 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6496del (p.Ile2166fs) |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV003812897] |
ChrX:154352559 [GRCh38]
ChrX:153580927 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.2573C>T (p.Pro858Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003798338] |
ChrX:154362325 [GRCh38]
ChrX:153590693 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6227-18_6227-17insCCTGTCCTAGGTGCTAGGACCTA |
insertion |
Heterotopia, periventricular, X-linked dominant [RCV003798344] |
ChrX:154352941..154352942 [GRCh38]
ChrX:153581309..153581310 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7157-17G>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003808635] |
ChrX:154350224 [GRCh38]
ChrX:153578592 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1065+20G>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003809649] |
ChrX:154366542 [GRCh38]
ChrX:153594910 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6442C>T (p.Arg2148Cys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003808740] |
ChrX:154352613 [GRCh38]
ChrX:153580981 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.279C>T (p.His93=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003798546] |
ChrX:154370967 [GRCh38]
ChrX:153599335 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1568-18C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003800760] |
ChrX:154365277 [GRCh38]
ChrX:153593645 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3251C>G (p.Ser1084Cys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003808820] |
ChrX:154360544 [GRCh38]
ChrX:153588912 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5985G>A (p.Glu1995=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003808832] |
ChrX:154353333 [GRCh38]
ChrX:153581701 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1739G>A (p.Arg580Gln) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003808833] |
ChrX:154364910 [GRCh38]
ChrX:153593278 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.35C>A (p.Ala12Glu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003799696] |
ChrX:154371211 [GRCh38]
ChrX:153599579 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2023-17G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003813136] |
ChrX:154364389 [GRCh38]
ChrX:153592757 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3780C>G (p.Cys1260Trp) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003813560] |
ChrX:154360015 [GRCh38]
ChrX:153588383 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3805+2T>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003815440] |
ChrX:154359988 [GRCh38]
ChrX:153588356 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.5655C>T (p.Thr1885=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003801628] |
ChrX:154353946 [GRCh38]
ChrX:153582314 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3189C>T (p.Ala1063=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003817989] |
ChrX:154361326 [GRCh38]
ChrX:153589694 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2136+18_2136+19del |
microsatellite |
Heterotopia, periventricular, X-linked dominant [RCV003809682] |
ChrX:154364240..154364241 [GRCh38]
ChrX:153592608..153592609 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3771T>A (p.Gly1257=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003801839] |
ChrX:154360024 [GRCh38]
ChrX:153588392 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2826+4_2826+7dup |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV003808638] |
ChrX:154361971..154361972 [GRCh38]
ChrX:153590339..153590340 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5395A>G (p.Ile1799Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003799515] |
ChrX:154354402 [GRCh38]
ChrX:153582770 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3855G>C (p.Leu1285=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003817814] |
ChrX:154359856 [GRCh38]
ChrX:153588224 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.987+11C>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003818011] |
ChrX:154366721 [GRCh38]
ChrX:153595089 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3619G>T (p.Val1207Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003800593] |
ChrX:154360176 [GRCh38]
ChrX:153588544 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5468A>G (p.Asn1823Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003800615] |
ChrX:154354240 [GRCh38]
ChrX:153582608 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5929G>A (p.Glu1977Lys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003801207] |
ChrX:154353389 [GRCh38]
ChrX:153581757 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6395_6396del (p.Val2132fs) |
microsatellite |
Heterotopia, periventricular, X-linked dominant [RCV003817853]|Heterotopia, periventricular, X-linked dominant [RCV003992796] |
ChrX:154352659..154352660 [GRCh38]
ChrX:153581027..153581028 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.5314-17C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003801899] |
ChrX:154354500 [GRCh38]
ChrX:153582868 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6770-15A>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003809338] |
ChrX:154352036 [GRCh38]
ChrX:153580404 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.373+811C>T |
single nucleotide variant |
not provided [RCV003740577] |
ChrX:154370062 [GRCh38]
ChrX:153598430 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2527G>T (p.Ala843Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003812528] |
ChrX:154362456 [GRCh38]
ChrX:153590824 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6372C>A (p.His2124Gln) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003800220] |
ChrX:154352779 [GRCh38]
ChrX:153581147 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4834G>T (p.Val1612Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003818064] |
ChrX:154357545 [GRCh38]
ChrX:153585913 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2827-4C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003801928] |
ChrX:154361791 [GRCh38]
ChrX:153590159 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4917C>G (p.Thr1639=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004511022] |
ChrX:154357462 [GRCh38]
ChrX:153585830 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5860+11C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003808295] |
ChrX:154353543 [GRCh38]
ChrX:153581911 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6002G>T (p.Arg2001Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003812889] |
ChrX:154353316 [GRCh38]
ChrX:153581684 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1692-13C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003818084] |
ChrX:154364970 [GRCh38]
ChrX:153593338 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1944G>A (p.Leu648=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003818086] |
ChrX:154364604 [GRCh38]
ChrX:153592972 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.671A>G (p.Asn224Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003801946] |
ChrX:154367690 [GRCh38]
ChrX:153596058 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3150G>A (p.Val1050=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003812853] |
ChrX:154361365 [GRCh38]
ChrX:153589733 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.126G>A (p.Lys42=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004511017] |
ChrX:154371120 [GRCh38]
ChrX:153599488 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7131G>A (p.Glu2377=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003798722] |
ChrX:154350934 [GRCh38]
ChrX:153579302 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.7756+6C>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003809970] |
ChrX:154349356 [GRCh38]
ChrX:153577724 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3388G>A (p.Glu1130Lys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003799787] |
ChrX:154360407 [GRCh38]
ChrX:153588775 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.7276G>A (p.Gly2426Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003800891] |
ChrX:154350088 [GRCh38]
ChrX:153578456 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5745C>G (p.Asn1915Lys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003801482] |
ChrX:154353669 [GRCh38]
ChrX:153582037 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1940T>G (p.Val647Gly) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003817908] |
ChrX:154364608 [GRCh38]
ChrX:153592976 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2657-13G>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003813191] |
ChrX:154362161 [GRCh38]
ChrX:153590529 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4462C>G (p.Gln1488Glu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003813267] |
ChrX:154358996 [GRCh38]
ChrX:153587364 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.7023+20C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003808957] |
ChrX:154351561 [GRCh38]
ChrX:153579929 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2026_2029dup (p.Ala677fs) |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV003809539] |
ChrX:154364365..154364366 [GRCh38]
ChrX:153592733..153592734 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.1707G>A (p.Lys569=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003810016] |
ChrX:154364942 [GRCh38]
ChrX:153593310 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3301G>T (p.Gly1101Cys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003813484] |
ChrX:154360494 [GRCh38]
ChrX:153588862 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2404+7C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003799415] |
ChrX:154362654 [GRCh38]
ChrX:153591022 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3979+12G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003799907] |
ChrX:154359720 [GRCh38]
ChrX:153588088 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5160C>G (p.Tyr1720Ter) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003801983] |
ChrX:154354882 [GRCh38]
ChrX:153583250 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.2281-17G>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003813107] |
ChrX:154362801 [GRCh38]
ChrX:153591169 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5450A>G (p.Gln1817Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003813192] |
ChrX:154354258 [GRCh38]
ChrX:153582626 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7295T>G (p.Val2432Gly) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003810414] |
ChrX:154350069 [GRCh38]
ChrX:153578437 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3980-6C>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003801499] |
ChrX:154359652 [GRCh38]
ChrX:153588020 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5558-4T>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003799236] |
ChrX:154354047 [GRCh38]
ChrX:153582415 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.659A>G (p.Lys220Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003800351] |
ChrX:154367702 [GRCh38]
ChrX:153596070 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1457T>C (p.Val486Ala) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003801609] |
ChrX:154365459 [GRCh38]
ChrX:153593827 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.622+6G>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003810603] |
ChrX:154367836 [GRCh38]
ChrX:153596204 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4304-12C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003799360] |
ChrX:154359166 [GRCh38]
ChrX:153587534 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4064C>T (p.Pro1355Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003812699] |
ChrX:154359562 [GRCh38]
ChrX:153587930 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1882G>T (p.Asp628Tyr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003815616] |
ChrX:154364666 [GRCh38]
ChrX:153593034 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5810A>G (p.Lys1937Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003815636] |
ChrX:154353604 [GRCh38]
ChrX:153581972 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2559T>C (p.Ala853=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003812982] |
ChrX:154362424 [GRCh38]
ChrX:153590792 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1266C>T (p.Asp422=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003813352] |
ChrX:154366187 [GRCh38]
ChrX:153594555 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5698C>G (p.Leu1900Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003817686] |
ChrX:154353716 [GRCh38]
ChrX:153582084 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7564_7566del (p.Val2522del) |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV003812491] |
ChrX:154349552..154349554 [GRCh38]
ChrX:153577920..153577922 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1229-18G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003800008] |
ChrX:154366242 [GRCh38]
ChrX:153594610 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3815G>T (p.Arg1272Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003801197] |
ChrX:154359896 [GRCh38]
ChrX:153588264 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2650C>A (p.Arg884Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003815535] |
ChrX:154362248 [GRCh38]
ChrX:153590616 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.7757-15C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003799412] |
ChrX:154349051 [GRCh38]
ChrX:153577419 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5417-18A>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003815550] |
ChrX:154354309 [GRCh38]
ChrX:153582677 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3498A>C (p.Ser1166=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003810097] |
ChrX:154360297 [GRCh38]
ChrX:153588665 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.720+15C>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003798396] |
ChrX:154367626 [GRCh38]
ChrX:153595994 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6503-3C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003810163] |
ChrX:154352450 [GRCh38]
ChrX:153580818 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3805+1G>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003815728] |
ChrX:154359989 [GRCh38]
ChrX:153588357 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.5547G>A (p.Met1849Ile) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003800119] |
ChrX:154354161 [GRCh38]
ChrX:153582529 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5873T>A (p.Met1958Lys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003812341] |
ChrX:154353445 [GRCh38]
ChrX:153581813 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2789ACA[1] (p.Asn931del) |
microsatellite |
Heterotopia, periventricular, X-linked dominant [RCV003815738] |
ChrX:154362011..154362013 [GRCh38]
ChrX:153590379..153590381 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.171G>A (p.Leu57=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003801375] |
ChrX:154371075 [GRCh38]
ChrX:153599443 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.461T>G (p.Met154Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003801396] |
ChrX:154368003 [GRCh38]
ChrX:153596371 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3980-6C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003809908] |
ChrX:154359652 [GRCh38]
ChrX:153588020 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7871G>C (p.Gly2624Ala) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003812571] |
ChrX:154348922 [GRCh38]
ChrX:153577290 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6023G>A (p.Gly2008Glu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003810462] |
ChrX:154353204 [GRCh38]
ChrX:153581572 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.545A>G (p.Gln182Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003812444] |
ChrX:154367919 [GRCh38]
ChrX:153596287 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3798G>A (p.Glu1266=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003812696] |
ChrX:154359997 [GRCh38]
ChrX:153588365 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1560G>A (p.Lys520=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003800365] |
ChrX:154365356 [GRCh38]
ChrX:153593724 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3848G>A (p.Arg1283Gln) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003808950] |
ChrX:154359863 [GRCh38]
ChrX:153588231 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1438C>A (p.Pro480Thr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003813171] |
ChrX:154365478 [GRCh38]
ChrX:153593846 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5873T>C (p.Met1958Thr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003800475] |
ChrX:154353445 [GRCh38]
ChrX:153581813 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.901C>A (p.Arg301=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003813069] |
ChrX:154366818 [GRCh38]
ChrX:153595186 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2137-11C>T |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003813353] |
ChrX:154364176 [GRCh38]
ChrX:153592544 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4392T>A (p.Arg1464=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003800583] |
ChrX:154359066 [GRCh38]
ChrX:153587434 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1433G>A (p.Cys478Tyr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003800621] |
ChrX:154365483 [GRCh38]
ChrX:153593851 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3574G>A (p.Glu1192Lys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003815303] |
ChrX:154360221 [GRCh38]
ChrX:153588589 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2786A>G (p.His929Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003809788] |
ChrX:154362019 [GRCh38]
ChrX:153590387 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6828G>A (p.Glu2276=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003801358] |
ChrX:154351963 [GRCh38]
ChrX:153580331 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7458C>T (p.Thr2486=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003813652] |
ChrX:154349743 [GRCh38]
ChrX:153578111 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5218-19T>C |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003813660] |
ChrX:154354730 [GRCh38]
ChrX:153583098 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6101C>A (p.Pro2034His) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003813607] |
ChrX:154353126 [GRCh38]
ChrX:153581494 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.402G>A (p.Leu134=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003809418] |
ChrX:154368062 [GRCh38]
ChrX:153596430 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1568-15T>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003800236] |
ChrX:154365274 [GRCh38]
ChrX:153593642 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3822C>T (p.Ala1274=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003809938] |
ChrX:154359889 [GRCh38]
ChrX:153588257 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4897C>T (p.Arg1633Cys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003809492] |
ChrX:154357482 [GRCh38]
ChrX:153585850 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.484G>A (p.Glu162Lys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003809985] |
ChrX:154367980 [GRCh38]
ChrX:153596348 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6066T>C (p.His2022=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003800944] |
ChrX:154353161 [GRCh38]
ChrX:153581529 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.271C>T (p.Arg91Cys) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003809522] |
ChrX:154370975 [GRCh38]
ChrX:153599343 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2317A>G (p.Lys773Glu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003799372] |
ChrX:154362748 [GRCh38]
ChrX:153591116 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3032C>G (p.Pro1011Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003800407] |
ChrX:154361483 [GRCh38]
ChrX:153589851 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4117_4125del (p.Pro1373_Lys1375del) |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV003803473] |
ChrX:154359501..154359509 [GRCh38]
ChrX:153587869..153587877 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7443G>A (p.Glu2481=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003803487] |
ChrX:154349758 [GRCh38]
ChrX:153578126 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2879C>G (p.Pro960Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003802388] |
ChrX:154361735 [GRCh38]
ChrX:153590103 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1673G>T (p.Gly558Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003802782] |
ChrX:154365154 [GRCh38]
ChrX:153593522 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1691+11dup |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV003803996] |
ChrX:154365124..154365125 [GRCh38]
ChrX:153593492..153593493 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.6285G>A (p.Glu2095=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003803549] |
ChrX:154352866 [GRCh38]
ChrX:153581234 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6443G>A (p.Arg2148His) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003802701] |
ChrX:154352612 [GRCh38]
ChrX:153580980 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.347G>T (p.Arg116Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003803246] |
ChrX:154370899 [GRCh38]
ChrX:153599267 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2910C>G (p.Asp970Glu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003803249] |
ChrX:154361704 [GRCh38]
ChrX:153590072 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.3298C>T (p.Leu1100=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003803513] |
ChrX:154360497 [GRCh38]
ChrX:153588865 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.917_918del (p.Val306fs) |
microsatellite |
Heterotopia, periventricular, X-linked dominant [RCV003802297] |
ChrX:154366801..154366802 [GRCh38]
ChrX:153595169..153595170 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.1317C>G (p.Asp439Glu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003803565] |
ChrX:154366136 [GRCh38]
ChrX:153594504 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3561C>G (p.Ser1187Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003803183] |
ChrX:154360234 [GRCh38]
ChrX:153588602 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731) |
copy number loss |
not specified [RCV003986202] |
ChrX:103405294..155233731 [GRCh37]
ChrX:Xq22.2-28 |
pathogenic |
| GRCh37/hg19 Xq28(chrX:153200064-153624564) |
copy number gain |
not specified [RCV003986283] |
ChrX:153200064..153624564 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.2254G>C (p.Val752Leu) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003802184] |
ChrX:154364048 [GRCh38]
ChrX:153592416 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7756+2T>A |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003803469] |
ChrX:154349360 [GRCh38]
ChrX:153577728 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3203G>C (p.Ser1068Thr) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003802421] |
ChrX:154361312 [GRCh38]
ChrX:153589680 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4372C>G (p.Leu1458Val) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003803995] |
ChrX:154359086 [GRCh38]
ChrX:153587454 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| GRCh37/hg19 Xq24-28(chrX:119395676-154930047) |
copy number loss |
not specified [RCV003986220] |
ChrX:119395676..154930047 [GRCh37]
ChrX:Xq24-28 |
pathogenic |
| NM_001110556.2(FLNA):c.6302C>G (p.Thr2101Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003802627] |
ChrX:154352849 [GRCh38]
ChrX:153581217 [GRCh37]
ChrX:Xq28 |
benign |
| NM_001110556.2(FLNA):c.695C>G (p.Ala232Gly) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003802804] |
ChrX:154367666 [GRCh38]
ChrX:153596034 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2614G>T (p.Ala872Ser) |
single nucleotide variant |
not provided [RCV003736507] |
ChrX:154362284 [GRCh38]
ChrX:153590652 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2680C>A (p.His894Asn) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003803049] |
ChrX:154362125 [GRCh38]
ChrX:153590493 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1610T>C (p.Val537Ala) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003803202] |
ChrX:154365217 [GRCh38]
ChrX:153593585 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6462C>T (p.Ala2154=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003802608] |
ChrX:154352593 [GRCh38]
ChrX:153580961 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3891G>C (p.Val1297=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003802733] |
ChrX:154359820 [GRCh38]
ChrX:153588188 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3207+6del |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV003803037] |
ChrX:154361302 [GRCh38]
ChrX:153589670 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4605C>T (p.Phe1535=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003803171] |
ChrX:154358349 [GRCh38]
ChrX:153586717 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4691T>G (p.Leu1564Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003803540] |
ChrX:154358263 [GRCh38]
ChrX:153586631 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.374-13C>G |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003803551] |
ChrX:154368103 [GRCh38]
ChrX:153596471 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2038C>T (p.Pro680Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003803332] |
ChrX:154364357 [GRCh38]
ChrX:153592725 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6368A>G (p.Gln2123Arg) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003803342] |
ChrX:154352783 [GRCh38]
ChrX:153581151 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4333G>A (p.Val1445Met) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003802359] |
ChrX:154359125 [GRCh38]
ChrX:153587493 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2565G>A (p.Gln855=) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003803744] |
ChrX:154362418 [GRCh38]
ChrX:153590786 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7789C>T (p.Pro2597Ser) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV003802684] |
ChrX:154349004 [GRCh38]
ChrX:153577372 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| GRCh37/hg19 Xq25-28(chrX:125253445-155233098)x1 |
copy number loss |
See cases [RCV004442781] |
ChrX:125253445..155233098 [GRCh37]
ChrX:Xq25-28 |
pathogenic |
| GRCh37/hg19 Xq25-28(chrX:121656905-155233098)x1 |
copy number loss |
not provided [RCV004442761] |
ChrX:121656905..155233098 [GRCh37]
ChrX:Xq25-28 |
pathogenic |
| NM_001110556.2(FLNA):c.4227C>T (p.Ser1409=) |
single nucleotide variant |
FLNA-related disorder [RCV004534481] |
ChrX:154359322 [GRCh38]
ChrX:153587690 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3393C>G (p.Pro1131=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004511019] |
ChrX:154360402 [GRCh38]
ChrX:153588770 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3720G>A (p.Val1240=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004511020] |
ChrX:154360075 [GRCh38]
ChrX:153588443 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.406C>T (p.Leu136=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004511021] |
ChrX:154368058 [GRCh38]
ChrX:153596426 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.14A>T (p.His5Leu) |
single nucleotide variant |
FLNA-related disorder [RCV004534627] |
ChrX:154371232 [GRCh38]
ChrX:153599600 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2280+398T>C |
single nucleotide variant |
FLNA-related disorder [RCV004545514] |
ChrX:154363624 [GRCh38]
ChrX:153591992 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7354G>A (p.Val2452Met) |
single nucleotide variant |
FLNA-related disorder [RCV004537046] |
ChrX:154349847 [GRCh38]
ChrX:153578215 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3777G>C (p.Gln1259His) |
single nucleotide variant |
FLNA-related disorder [RCV004542670] |
ChrX:154360018 [GRCh38]
ChrX:153588386 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4514G>A (p.Gly1505Asp) |
single nucleotide variant |
not provided [RCV003885294] |
ChrX:154358529 [GRCh38]
ChrX:153586897 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4620G>A (p.Leu1540=) |
single nucleotide variant |
FLNA-related disorder [RCV004532202] |
ChrX:154358334 [GRCh38]
ChrX:153586702 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.237G>A (p.Ala79=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004511018] |
ChrX:154371009 [GRCh38]
ChrX:153599377 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3364T>C (p.Cys1122Arg) |
single nucleotide variant |
FLNA-related disorder [RCV004542688] |
ChrX:154360431 [GRCh38]
ChrX:153588799 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1332C>T (p.Cys444=) |
single nucleotide variant |
not provided [RCV003886061] |
ChrX:154366121 [GRCh38]
ChrX:153594489 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4350G>C (p.Lys1450Asn) |
single nucleotide variant |
FLNA-related disorder [RCV004539372] |
ChrX:154359108 [GRCh38]
ChrX:153587476 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5238C>G (p.Pro1746=) |
single nucleotide variant |
FLNA-related disorder [RCV004542384] |
ChrX:154354691 [GRCh38]
ChrX:153583059 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.122G>T (p.Trp41Leu) |
single nucleotide variant |
not provided [RCV003887275] |
ChrX:154371124 [GRCh38]
ChrX:153599492 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2280+399G>C |
single nucleotide variant |
FLNA-related disorder [RCV004539286] |
ChrX:154363623 [GRCh38]
ChrX:153591991 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.996G>A (p.Val332=) |
single nucleotide variant |
FLNA-related disorder [RCV004531930] |
ChrX:154366631 [GRCh38]
ChrX:153594999 [GRCh37]
ChrX:Xq28 |
likely benign |
| GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3 |
copy number gain |
not provided [RCV003885530] |
ChrX:67292994..155240074 [GRCh37]
ChrX:Xq12-28 |
pathogenic |
| NM_001110556.2(FLNA):c.524G>A (p.Trp175Ter) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004389451] |
ChrX:154367940 [GRCh38]
ChrX:153596308 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.3410A>G (p.Asn1137Ser) |
single nucleotide variant |
Oto-palato-digital syndrome, type I [RCV004556018] |
ChrX:154360385 [GRCh38]
ChrX:153588753 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.995T>C (p.Val332Ala) |
single nucleotide variant |
not provided [RCV004585814] |
ChrX:154366632 [GRCh38]
ChrX:153595000 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5204C>T (p.Pro1735Leu) |
single nucleotide variant |
not provided [RCV004588738] |
ChrX:154354838 [GRCh38]
ChrX:153583206 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6330G>T (p.Glu2110Asp) |
single nucleotide variant |
not provided [RCV004588886] |
ChrX:154352821 [GRCh38]
ChrX:153581189 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2271C>A (p.Ser757Arg) |
single nucleotide variant |
not provided [RCV004592150] |
ChrX:154364031 [GRCh38]
ChrX:153592399 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5421G>C (p.Glu1807Asp) |
single nucleotide variant |
not provided [RCV004592301] |
ChrX:154354287 [GRCh38]
ChrX:153582655 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2 |
copy number gain |
Klinefelter syndrome [RCV004579655] |
ChrX:2757837..156030895 [GRCh38]
ChrX:Xp22.33-q28 |
pathogenic |
| NC_000023.10:g.(?_153577217)_(153649343_?)dup |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV004579984] |
ChrX:153577217..153649343 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NC_000023.10:g.(?_153577217)_(153581312_?)dup |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV004580006] |
ChrX:153577217..153581312 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NC_000023.10:g.(?_152954030)_(154005142_?)del |
deletion |
3-Methylglutaconic aciduria type 2 [RCV004582960]|Adrenoleukodystrophy [RCV004582961]|Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV004582959]|Creatine transporter deficiency [RCV004582962]|Dyskeratosis congenita [RCV004582964]|Spastic paraplegia [RCV004582965]|X-linked Emery-Dreifuss muscular dystrophy [RCV004582963] |
ChrX:152954030..154005142 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.340del (p.Leu114fs) |
deletion |
not provided [RCV004697619] |
ChrX:154370906 [GRCh38]
ChrX:153599274 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NC_000023.10:g.(?_153586793)_(153609557_?)dup |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV004579995] |
ChrX:153586793..153609557 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.363G>A (p.Leu121=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004625792] |
ChrX:154370883 [GRCh38]
ChrX:153599251 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1788C>G (p.Asp596Glu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004625793] |
ChrX:154364861 [GRCh38]
ChrX:153593229 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3507G>T (p.Gly1169=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004625794] |
ChrX:154360288 [GRCh38]
ChrX:153588656 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1857T>C (p.Ala619=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004625795] |
ChrX:154364691 [GRCh38]
ChrX:153593059 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6517G>T (p.Asp2173Tyr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004625796] |
ChrX:154352433 [GRCh38]
ChrX:153580801 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7841A>G (p.Tyr2614Cys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004625797] |
ChrX:154348952 [GRCh38]
ChrX:153577320 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1192G>A (p.Ala398Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004625798] |
ChrX:154366344 [GRCh38]
ChrX:153594712 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5414C>T (p.Thr1805Ile) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004625799] |
ChrX:154354383 [GRCh38]
ChrX:153582751 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.835C>T (p.Leu279=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004625800] |
ChrX:154367430 [GRCh38]
ChrX:153595798 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.801C>G (p.Ala267=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004625801] |
ChrX:154367464 [GRCh38]
ChrX:153595832 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1749C>A (p.Gly583=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004625802] |
ChrX:154364900 [GRCh38]
ChrX:153593268 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2530G>A (p.Gly844Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004625803] |
ChrX:154362453 [GRCh38]
ChrX:153590821 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5316C>A (p.Ala1772=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004625804] |
ChrX:154354481 [GRCh38]
ChrX:153582849 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4662G>C (p.Gly1554=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004625805] |
ChrX:154358292 [GRCh38]
ChrX:153586660 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1705A>G (p.Lys569Glu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004625806] |
ChrX:154364944 [GRCh38]
ChrX:153593312 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1A>C (p.Met1Leu) |
single nucleotide variant |
Melnick-Needles syndrome [RCV004596049] |
ChrX:154371245 [GRCh38]
ChrX:153599613 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.297C>A (p.Phe99Leu) |
single nucleotide variant |
not provided [RCV004592208] |
ChrX:154370949 [GRCh38]
ChrX:153599317 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NC_000023.10:g.(?_153592370)_(153775961_?)dup |
duplication |
3-Methylglutaconic aciduria type 2 [RCV004578130] |
ChrX:153592370..153775961 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NC_000023.10:g.(?_153577217)_(153583460_?)del |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV004578513] |
ChrX:153577217..153583460 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.1470C>T (p.Leu490=) |
single nucleotide variant |
not provided [RCV004575364] |
ChrX:154365446 [GRCh38]
ChrX:153593814 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5813A>G (p.Tyr1938Cys) |
single nucleotide variant |
not provided [RCV004697618] |
ChrX:154353601 [GRCh38]
ChrX:153581969 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.759C>G (p.Asp253Glu) |
single nucleotide variant |
not provided [RCV004702082] |
ChrX:154367506 [GRCh38]
ChrX:153595874 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.5245C>T (p.Gln1749Ter) |
single nucleotide variant |
not provided [RCV004791101] |
ChrX:154354684 [GRCh38]
ChrX:153583052 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.2014C>T (p.Pro672Ser) |
single nucleotide variant |
not provided [RCV004762747] |
|
uncertain significance |
| NM_001110556.2(FLNA):c.5271G>T (p.Leu1757=) |
single nucleotide variant |
FLNA-related disorder [RCV004727969] |
ChrX:154354658 [GRCh38]
ChrX:153583026 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.979C>A (p.Gln327Lys) |
single nucleotide variant |
not provided [RCV004779912] |
ChrX:154366740 [GRCh38]
ChrX:153595108 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6709_6710dup (p.Ala2238fs) |
duplication |
Cardiac valvular dysplasia, X-linked [RCV004797433] |
ChrX:154352239..154352240 [GRCh38]
ChrX:153580607..153580608 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.6359T>C (p.Phe2120Ser) |
single nucleotide variant |
FLNA-related disorder [RCV004724525] |
ChrX:154352792 [GRCh38]
ChrX:153581160 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.208G>T (p.Asp70Tyr) |
single nucleotide variant |
not provided [RCV004770529] |
ChrX:154371038 [GRCh38]
ChrX:153599406 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5133C>G (p.Phe1711Leu) |
single nucleotide variant |
FLNA-related disorder [RCV004728659] |
ChrX:154354909 [GRCh38]
ChrX:153583277 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4982del (p.Gly1661fs) |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV004797530] |
ChrX:154355060 [GRCh38]
ChrX:153583428 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.1221del (p.Phe407fs) |
deletion |
Heterotopia, periventricular, X-linked dominant [RCV004797456] |
ChrX:154366315 [GRCh38]
ChrX:153594683 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.3715C>T (p.Pro1239Ser) |
single nucleotide variant |
not provided [RCV004760076] |
|
uncertain significance |
| NM_001110556.2(FLNA):c.6134G>C (p.Gly2045Ala) |
single nucleotide variant |
not provided [RCV004763240] |
|
uncertain significance |
| NM_001110556.2(FLNA):c.4402C>T (p.Pro1468Ser) |
single nucleotide variant |
not provided [RCV004772610] |
ChrX:154359056 [GRCh38]
ChrX:153587424 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7708G>A (p.Ala2570Thr) |
single nucleotide variant |
not provided [RCV004729313] |
ChrX:154349410 [GRCh38]
ChrX:153577778 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.286C>G (p.Arg96Gly) |
single nucleotide variant |
not provided [RCV004767996] |
ChrX:154370960 [GRCh38]
ChrX:153599328 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3416T>A (p.Leu1139His) |
single nucleotide variant |
not provided [RCV004761033] |
|
uncertain significance |
| NM_001110556.2(FLNA):c.4078G>A (p.Val1360Ile) |
single nucleotide variant |
not provided [RCV004776010] |
ChrX:154359548 [GRCh38]
ChrX:153587916 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.6454T>G (p.Ser2152Ala) |
single nucleotide variant |
FLNA-related disorder [RCV004726404] |
ChrX:154352601 [GRCh38]
ChrX:153580969 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3257C>G (p.Ala1086Gly) |
single nucleotide variant |
not provided [RCV004776218] |
ChrX:154360538 [GRCh38]
ChrX:153588906 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5173del (p.Arg1725fs) |
deletion |
FLNA-related disorder [RCV004728050] |
ChrX:154354869 [GRCh38]
ChrX:153583237 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.7922C>A (p.Pro2641His) |
single nucleotide variant |
not provided [RCV004781423] |
ChrX:154348871 [GRCh38]
ChrX:153577239 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NC_000023.10:g.(?_54610638)_(154689386_?)dup |
duplication |
Hereditary factor VIII deficiency disease [RCV004768478] |
ChrX:54610638..154689386 [GRCh37]
ChrX:Xp11.22-q28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3207+8G>A |
single nucleotide variant |
Frontometaphyseal dysplasia 1 [RCV004720643] |
ChrX:154361300 [GRCh38]
ChrX:153589668 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7146A>T (p.Glu2382Asp) |
single nucleotide variant |
not provided [RCV004725860] |
ChrX:154350919 [GRCh38]
ChrX:153579287 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2404+1G>T |
single nucleotide variant |
FLNA-related disorder [RCV004726432] |
ChrX:154362660 [GRCh38]
ChrX:153591028 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.7258G>A (p.Val2420Ile) |
single nucleotide variant |
Laterality defects, autosomal dominant [RCV004765017] |
ChrX:154350106 [GRCh38]
ChrX:153578474 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5997_6022+1dup |
duplication |
Periventricular nodular heterotopia [RCV004699981] |
ChrX:154353294..154353295 [GRCh38]
ChrX:153581662..153581663 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.5298C>T (p.Gly1766=) |
single nucleotide variant |
not provided [RCV004811581] |
ChrX:154354631 [GRCh38]
ChrX:153582999 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7120G>A (p.Ala2374Thr) |
single nucleotide variant |
not provided [RCV004701970] |
ChrX:154350945 [GRCh38]
ChrX:153579313 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4222G>C (p.Gly1408Arg) |
single nucleotide variant |
not provided [RCV004769512] |
ChrX:154359327 [GRCh38]
ChrX:153587695 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7266G>C (p.Glu2422Asp) |
single nucleotide variant |
FLNA-related disorder [RCV004728384] |
ChrX:154350098 [GRCh38]
ChrX:153578466 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.-6C>G |
single nucleotide variant |
not provided [RCV004721975] |
ChrX:154371251 [GRCh38]
ChrX:153599619 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7826T>C (p.Val2609Ala) |
single nucleotide variant |
not provided [RCV004771874] |
ChrX:154348967 [GRCh38]
ChrX:153577335 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4346C>G (p.Ser1449Cys) |
single nucleotide variant |
not provided [RCV004762990] |
|
uncertain significance |
| NM_001110556.2(FLNA):c.5690G>T (p.Gly1897Val) |
single nucleotide variant |
FLNA-related disorder [RCV004735328] |
ChrX:154353724 [GRCh38]
ChrX:153582092 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5478C>A (p.Gly1826=) |
single nucleotide variant |
FLNA-related disorder [RCV004736500] |
ChrX:154354230 [GRCh38]
ChrX:153582598 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.730C>T (p.Pro244Ser) |
single nucleotide variant |
not provided [RCV004772279] |
ChrX:154367535 [GRCh38]
ChrX:153595903 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.458C>G (p.Pro153Arg) |
single nucleotide variant |
not provided [RCV004769665] |
ChrX:154368006 [GRCh38]
ChrX:153596374 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7249A>C (p.Lys2417Gln) |
single nucleotide variant |
not provided [RCV004772560] |
ChrX:154350115 [GRCh38]
ChrX:153578483 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2459_2464del (p.Ala820_Ile822delinsVal) |
deletion |
not provided [RCV004774974] |
ChrX:154362519..154362524 [GRCh38]
ChrX:153590887..153590892 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7244C>G (p.Pro2415Arg) |
single nucleotide variant |
not provided [RCV004794780] |
ChrX:154350120 [GRCh38]
ChrX:153578488 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7153C>G (p.Gln2385Glu) |
single nucleotide variant |
not provided [RCV004760810] |
|
uncertain significance |
| NM_001110556.2(FLNA):c.3202A>G (p.Ser1068Gly) |
single nucleotide variant |
not provided [RCV004768134] |
ChrX:154361313 [GRCh38]
ChrX:153589681 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5926T>C (p.Ser1976Pro) |
single nucleotide variant |
not provided [RCV004760924] |
|
uncertain significance |
| NM_001110556.2(FLNA):c.916G>T (p.Val306Leu) |
single nucleotide variant |
not provided [RCV004760915] |
|
uncertain significance |
| NM_001110556.2(FLNA):c.289C>T (p.Pro97Ser) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV004771829] |
ChrX:154370957 [GRCh38]
ChrX:153599325 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.4726G>T (p.Gly1576Trp) |
single nucleotide variant |
Frontometaphyseal dysplasia 1 [RCV004759443]|not provided [RCV004727553] |
ChrX:154358228 [GRCh38]
ChrX:153586596 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.3921C>G (p.Thr1307=) |
single nucleotide variant |
not provided [RCV004776154] |
ChrX:154359790 [GRCh38]
ChrX:153588158 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1919C>T (p.Ala640Val) |
single nucleotide variant |
not provided [RCV004763966] |
|
uncertain significance |
| GRCh38/hg38 Xq28(chrX:154348522-154594454)x3 |
copy number gain |
Intellectual disability, X-linked 41 [RCV004776418] |
ChrX:154348522..154594454 [GRCh38]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.7430A>G (p.Gln2477Arg) |
single nucleotide variant |
not provided [RCV004773937] |
ChrX:154349771 [GRCh38]
ChrX:153578139 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1553C>T (p.Thr518Ile) |
single nucleotide variant |
not provided [RCV004761638] |
|
uncertain significance |
| NM_001110556.2(FLNA):c.446C>A (p.Ser149Tyr) |
single nucleotide variant |
not provided [RCV004773979] |
ChrX:154368018 [GRCh38]
ChrX:153596386 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5217+5G>A |
single nucleotide variant |
FLNA-related disorder [RCV004724471] |
ChrX:154354820 [GRCh38]
ChrX:153583188 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.1282G>T (p.Gly428Cys) |
single nucleotide variant |
FLNA-related disorder [RCV004724551] |
ChrX:154366171 [GRCh38]
ChrX:153594539 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3850G>T (p.Ala1284Ser) |
single nucleotide variant |
not provided [RCV004699048] |
ChrX:154359861 [GRCh38]
ChrX:153588229 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2822A>T (p.Gln941Leu) |
single nucleotide variant |
not provided [RCV004762789] |
|
uncertain significance |
| NM_001110556.2(FLNA):c.4142+2T>G |
single nucleotide variant |
not provided [RCV004702028] |
ChrX:154359482 [GRCh38]
ChrX:153587850 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.5569C>T (p.Gln1857Ter) |
single nucleotide variant |
FLNA-related disorder [RCV004728039] |
ChrX:154354032 [GRCh38]
ChrX:153582400 [GRCh37]
ChrX:Xq28 |
likely pathogenic |
| NM_001110556.2(FLNA):c.6467T>C (p.Val2156Ala) |
single nucleotide variant |
not provided [RCV004763148] |
|
uncertain significance |
| NM_001110556.2(FLNA):c.3747G>A (p.Val1249=) |
single nucleotide variant |
not provided [RCV004768128] |
ChrX:154360048 [GRCh38]
ChrX:153588416 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.623G>T (p.Gly208Val) |
single nucleotide variant |
not provided [RCV004768303] |
ChrX:154367738 [GRCh38]
ChrX:153596106 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NC_000023.11:g.154161393_154377600dup |
duplication |
Hereditary factor VIII deficiency disease [RCV004719072] |
ChrX:154161393..154377600 [GRCh38]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.5233C>G (p.Gln1745Glu) |
single nucleotide variant |
not provided [RCV005052349] |
ChrX:154354696 [GRCh38]
ChrX:153583064 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.3122A>G (p.Tyr1041Cys) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV005041709] |
ChrX:154361393 [GRCh38]
ChrX:153589761 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.568C>T (p.Arg190Trp) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV005041711] |
ChrX:154367896 [GRCh38]
ChrX:153596264 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.21G>C (p.Arg7=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004823511] |
ChrX:154371225 [GRCh38]
ChrX:153599593 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.180G>C (p.Val60=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004823518] |
ChrX:154371066 [GRCh38]
ChrX:153599434 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.226C>A (p.Arg76=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004823519] |
ChrX:154371020 [GRCh38]
ChrX:153599388 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7461T>C (p.Tyr2487=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004823524] |
ChrX:154349740 [GRCh38]
ChrX:153578108 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4101T>C (p.Ser1367=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004823526] |
ChrX:154359525 [GRCh38]
ChrX:153587893 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7149T>C (p.Ile2383=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004823527] |
ChrX:154350916 [GRCh38]
ChrX:153579284 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7440T>C (p.Pro2480=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004823528] |
ChrX:154349761 [GRCh38]
ChrX:153578129 [GRCh37]
ChrX:Xq28 |
likely benign |
| GRCh37/hg19 Xq28(chrX:153524110-153690476)x3 |
copy number gain |
not provided [RCV004819704] |
ChrX:153524110..153690476 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| GRCh37/hg19 Xq27.3-28(chrX:145075197-155233731)x1 |
copy number loss |
not provided [RCV004819417] |
ChrX:145075197..155233731 [GRCh37]
ChrX:Xq27.3-28 |
pathogenic |
| NM_001110556.2(FLNA):c.1413T>C (p.Thr471=) |
single nucleotide variant |
not provided [RCV005000952] |
ChrX:154366040 [GRCh38]
ChrX:153594408 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5295G>A (p.Gln1765=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004823520] |
ChrX:154354634 [GRCh38]
ChrX:153583002 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7431G>A (p.Gln2477=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004823530] |
ChrX:154349770 [GRCh38]
ChrX:153578138 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2134C>T (p.Gln712Ter) |
single nucleotide variant |
Heterotopia, periventricular, X-linked dominant [RCV005001955] |
ChrX:154364261 [GRCh38]
ChrX:153592629 [GRCh37]
ChrX:Xq28 |
pathogenic |
| NM_001110556.2(FLNA):c.2075C>T (p.Pro692Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004823507] |
ChrX:154364320 [GRCh38]
ChrX:153592688 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2291G>A (p.Gly764Glu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004823508] |
ChrX:154362774 [GRCh38]
ChrX:153591142 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2031A>G (p.Ala677=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004823510] |
ChrX:154364364 [GRCh38]
ChrX:153592732 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.1532G>A (p.Gly511Asp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004823514] |
ChrX:154365384 [GRCh38]
ChrX:153593752 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.363G>C (p.Leu121=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004823521] |
ChrX:154370883 [GRCh38]
ChrX:153599251 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.360A>G (p.Lys120=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004823522] |
ChrX:154370886 [GRCh38]
ChrX:153599254 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7464C>T (p.Thr2488=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004823529] |
ChrX:154349737 [GRCh38]
ChrX:153578105 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7404C>G (p.Gly2468=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004823532] |
ChrX:154349797 [GRCh38]
ChrX:153578165 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.645T>C (p.Ser215=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004823535] |
ChrX:154367716 [GRCh38]
ChrX:153596084 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.5860G>C (p.Gly1954Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004823536] |
ChrX:154353554 [GRCh38]
ChrX:153581922 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.7709C>T (p.Ala2570Val) |
single nucleotide variant |
not provided [RCV004820570] |
ChrX:154349409 [GRCh38]
ChrX:153577777 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.1604A>G (p.Asp535Gly) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004823506] |
ChrX:154365223 [GRCh38]
ChrX:153593591 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.2745C>G (p.Thr915=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004823512] |
ChrX:154362060 [GRCh38]
ChrX:153590428 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.2052G>A (p.Lys684=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004823513] |
ChrX:154364343 [GRCh38]
ChrX:153592711 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3584T>C (p.Ile1195Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004823515] |
ChrX:154360211 [GRCh38]
ChrX:153588579 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.195C>G (p.Ala65=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004823517] |
ChrX:154371051 [GRCh38]
ChrX:153599419 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7398T>C (p.Ile2466=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004823525] |
ChrX:154349803 [GRCh38]
ChrX:153578171 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.674C>T (p.Ala225Val) |
single nucleotide variant |
Cardiac valvular dysplasia, X-linked [RCV005041710] |
ChrX:154367687 [GRCh38]
ChrX:153596055 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.5103G>A (p.Val1701=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004823509] |
ChrX:154354939 [GRCh38]
ChrX:153583307 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.3400_3402del (p.Tyr1134del) |
deletion |
Familial thoracic aortic aneurysm and aortic dissection [RCV004823516] |
ChrX:154360393..154360395 [GRCh38]
ChrX:153588761..153588763 [GRCh37]
ChrX:Xq28 |
uncertain significance |
| NM_001110556.2(FLNA):c.516C>G (p.Leu172=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004823523] |
ChrX:154367948 [GRCh38]
ChrX:153596316 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.4071G>A (p.Arg1357=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004823531] |
ChrX:154359555 [GRCh38]
ChrX:153587923 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7143A>C (p.Thr2381=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004823533] |
ChrX:154350922 [GRCh38]
ChrX:153579290 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.7146A>G (p.Glu2382=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004823534] |
ChrX:154350919 [GRCh38]
ChrX:153579287 [GRCh37]
ChrX:Xq28 |
likely benign |
| NM_001110556.2(FLNA):c.6727G>A (p.Ala2243Thr) |
single nucleotide variant |
not provided [RCV004823338] |
ChrX:154352223 [GRCh38]
ChrX:153580591 [GRCh37]
ChrX:Xq28 |
uncertain significance |
