LOC107988032 (Xq28 proximal FLNA-EMD recombination region) - Rat Genome Database
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Gene: LOC107988032 (Xq28 proximal FLNA-EMD recombination region) Homo sapiens
Analyze
Symbol: LOC107988032
Name: Xq28 proximal FLNA-EMD recombination region
RGD ID: 38662448
Description: This region is known to undergo non-allelic homologous recombination (NAHR) with a similar low-copy repeat region, the Xq28 distal FLNA-EMD recombination region, which is in reverse orientation relative to this region, and is located downstream of this region relative to the reference genome. NAHR between the repeat regions found in these recombination regions can lead to an inversion of the 48 kb intervening sequence, including the filamin A (FLNA) gene and the emerin (EMD) gene. This inversion is observed in about 20% of X chromosomes. While there is no phenotype associated with the inversion, recombination between sequences found within the inverted region has been found in some cases of Emery-Dreifuss muscular dystrophy (EDMD), resulting in a deletion of the EMD gene. There is a meiotic recombination hotspot that partially overlaps the low-copy inverted repeat. [provided by RefSeq, Jun 2016]
Type: biological-region
RefSeq Status: REVIEWED
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X154,335,912 - 154,349,572 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X153,564,262 - 153,577,940 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic MapXq28NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


References
Additional References at PubMed
PMID:9140403   PMID:9384614   PMID:18003915   PMID:25395542   PMID:26956943  


Genomics


Expression


Sequence

Nucleotide Sequences
RefSeq Transcripts NG_050800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC245140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr) single nucleotide variant Cardiac valvular dysplasia, X-linked [RCV000760220]|Periventricular nodular heterotopia 1 [RCV000559847]|not provided [RCV000762685]|not specified [RCV000435841] ChrX:154349490 [GRCh38]
ChrX:153577858 [GRCh37]
ChrX:Xq28
uncertain significance
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
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 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 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
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
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
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
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 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 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 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: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.7756+8A>G single nucleotide variant Connective tissue disease [RCV000659677]|Periventricular nodular heterotopia 1 [RCV000234543]|not specified [RCV000153247] ChrX:154349354 [GRCh38]
ChrX:153577722 [GRCh37]
ChrX:Xq28
benign|likely benign
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
NM_001110556.2(FLNA):c.7776G>C (p.Val2592=) single nucleotide variant not specified [RCV000440012] ChrX:154349017 [GRCh38]
ChrX:153577385 [GRCh37]
ChrX:Xq28
likely benign
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 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 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:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
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 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
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 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
NM_001110556.2(FLNA):c.7608C>T (p.Asp2536=) single nucleotide variant Cardiovascular phenotype [RCV000251076] ChrX:154349510 [GRCh38]
ChrX:153577878 [GRCh37]
ChrX:Xq28
likely benign
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 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 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 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
NM_001110556.2(FLNA):c.7848G>C (p.Val2616=) single nucleotide variant not specified [RCV000443297] ChrX:154348945 [GRCh38]
ChrX:153577313 [GRCh37]
ChrX:Xq28
likely 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
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
NM_001110556.2(FLNA):c.7796C>A (p.Thr2599Asn) single nucleotide variant Cardiovascular phenotype [RCV000242466]|Periventricular nodular heterotopia 1 [RCV001296877] ChrX:154348997 [GRCh38]
ChrX:153577365 [GRCh37]
ChrX:Xq28
uncertain significance
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 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 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
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.7649C>T (p.Pro2550Leu) single nucleotide variant History of neurodevelopmental disorder [RCV000720247]|none provided [RCV001287615]|not provided [RCV000464368]|not specified [RCV000195416] ChrX:154349469 [GRCh38]
ChrX:153577837 [GRCh37]
ChrX:Xq28
likely pathogenic|likely benign|uncertain significance
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
NM_001110556.2(FLNA):c.7835G>A (p.Arg2612Gln) single nucleotide variant History of neurodevelopmental disorder [RCV000720366]|not provided [RCV000892533] ChrX:154348958 [GRCh38]
ChrX:153577326 [GRCh37]
ChrX:Xq28
likely benign|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: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
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: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
NM_001110556.2(FLNA):c.7671C>T (p.Ala2557=) single nucleotide variant not provided [RCV000079712] ChrX:154349447 [GRCh38]
ChrX:153577815 [GRCh37]
ChrX:Xq28
uncertain significance
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 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 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: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
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 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 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 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 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
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.7604T>C (p.Val2535Ala) single nucleotide variant Cardiovascular phenotype [RCV000249081] ChrX:154349514 [GRCh38]
ChrX:153577882 [GRCh37]
ChrX:Xq28
uncertain significance
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 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 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 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 Xq21.2-28(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 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 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 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 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 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 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 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 Xq28(chrX:153667032-154394658)x2 copy number gain See cases [RCV000137536] ChrX:153667032..154394658 [GRCh38]
ChrX:152585681..153276194 [NCBI36]
ChrX:Xq28
pathogenic
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 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 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 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 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 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: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 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 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: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
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: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: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.7686C>T (p.Ala2562=) single nucleotide variant Cardiovascular phenotype [RCV000251978]|History of neurodevelopmental disorder [RCV000715630]|Periventricular nodular heterotopia 1 [RCV000469779]|not specified [RCV000178598] ChrX:154349432 [GRCh38]
ChrX:153577800 [GRCh37]
ChrX:Xq28
benign
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 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 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:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
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 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
NM_001110556.2(FLNA):c.7878C>T (p.Tyr2626=) single nucleotide variant not provided [RCV000178621] ChrX:154348915 [GRCh38]
ChrX:153577283 [GRCh37]
ChrX:Xq28
uncertain significance
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
NM_001110556.2(FLNA):c.7794G>A (p.Arg2598=) single nucleotide variant not provided [RCV000178622] ChrX:154348999 [GRCh38]
ChrX:153577367 [GRCh37]
ChrX:Xq28
uncertain significance
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
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.7627T>C (p.Cys2543Arg) single nucleotide variant Cardiovascular phenotype [RCV000618608] ChrX:154349491 [GRCh38]
ChrX:153577859 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110556.2(FLNA):c.7577G>A (p.Ser2526Asn) single nucleotide variant Cardiovascular phenotype [RCV000620384] ChrX:154349541 [GRCh38]
ChrX:153577909 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110556.2(FLNA):c.7656T>A (p.Pro2552=) single nucleotide variant Periventricular nodular heterotopia 1 [RCV001050667] ChrX:154349462 [GRCh38]
ChrX:153577830 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110556.2(FLNA):c.7753G>A (p.Ala2585Thr) single nucleotide variant Cardiovascular phenotype [RCV000622108] ChrX:154349365 [GRCh38]
ChrX:153577733 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110556.2(FLNA):c.7596A>G (p.Ser2532=) single nucleotide variant Periventricular nodular heterotopia 1 [RCV000534962] ChrX:154349522 [GRCh38]
ChrX:153577890 [GRCh37]
ChrX:Xq28
benign
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
NM_001110556.2(FLNA):c.7756+19C>T single nucleotide variant not specified [RCV000424231] ChrX:154349343 [GRCh38]
ChrX:153577711 [GRCh37]
ChrX:Xq28
likely benign
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
NM_001110556.2(FLNA):c.7756+20G>A single nucleotide variant not specified [RCV000431718] ChrX:154349342 [GRCh38]
ChrX:153577710 [GRCh37]
ChrX:Xq28
likely benign
GRCh38/hg38 Xq28(chrX:153395425-155687381)x2 copy number gain See cases [RCV000052491] ChrX:153395425..155687381 [GRCh38]
ChrX:152314077..154570236 [NCBI36]
ChrX:Xq28
pathogenic
NM_001110556.2(FLNA):c.7822C>T (p.His2608Tyr) single nucleotide variant Periventricular nodular heterotopia 1 [RCV000475137] ChrX:154348971 [GRCh38]
ChrX:153577339 [GRCh37]
ChrX:Xq28
benign
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
NM_001110556.2(FLNA):c.7713C>T (p.Tyr2571=) single nucleotide variant not provided [RCV000871410]|not specified [RCV000609181] ChrX:154349405 [GRCh38]
ChrX:153577773 [GRCh37]
ChrX:Xq28
benign|likely benign
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
NM_001110556.2(FLNA):c.7824C>T (p.His2608=) single nucleotide variant not provided [RCV000875528] ChrX:154348969 [GRCh38]
ChrX:153577337 [GRCh37]
ChrX:Xq28
likely benign
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
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 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 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
NM_001110556.2(FLNA):c.7564G>A (p.Val2522Ile) single nucleotide variant not provided [RCV000865725] ChrX:154349554 [GRCh38]
ChrX:153577922 [GRCh37]
ChrX:Xq28
likely benign
NM_001110556.2(FLNA):c.7843A>G (p.Ser2615Gly) single nucleotide variant Periventricular nodular heterotopia 1 [RCV001224498] ChrX:154348950 [GRCh38]
ChrX:153577318 [GRCh37]
ChrX:Xq28
uncertain significance
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
NM_001110556.2(FLNA):c.7779_7780insTTCGGGG (p.Val2594fs) insertion Periventricular nodular heterotopia 1 [RCV000536029]|not provided [RCV000521545] ChrX:154349013..154349014 [GRCh38]
ChrX:153577381..153577382 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|uncertain significance
NM_001110556.2(FLNA):c.7902C>T (p.Asp2634=) single nucleotide variant not specified [RCV000614369] ChrX:154348891 [GRCh38]
ChrX:153577259 [GRCh37]
ChrX:Xq28
likely benign
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
NM_001110556.2(FLNA):c.7846G>A (p.Val2616Met) single nucleotide variant Periventricular nodular heterotopia 1 [RCV000791510] ChrX:154348947 [GRCh38]
ChrX:153577315 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110556.2(FLNA):c.7650G>A (p.Pro2550=) single nucleotide variant not specified [RCV000609497] ChrX:154349468 [GRCh38]
ChrX:153577836 [GRCh37]
ChrX:Xq28
likely benign
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
NM_001110556.2(FLNA):c.7872_7873del (p.Glu2625fs) deletion Periventricular nodular heterotopia 1 [RCV000807730] ChrX:154348920..154348921 [GRCh38]
ChrX:153577288..153577289 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110556.2(FLNA):c.7903G>A (p.Glu2635Lys) single nucleotide variant Abnormality of neuronal migration [RCV000201336]|Periventricular nodular heterotopia 1 [RCV000866800] ChrX:154348890 [GRCh38]
ChrX:153577258 [GRCh37]
ChrX:Xq28
benign|likely benign|uncertain significance
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
NM_001110556.2(FLNA):c.7900G>C (p.Asp2634His) single nucleotide variant Periventricular nodular heterotopia 1 [RCV000640740] ChrX:154348893 [GRCh38]
ChrX:153577261 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110556.2(FLNA):c.7932_7934del (p.Val2646del) deletion Periventricular nodular heterotopia 1 [RCV000470388] ChrX:154348859..154348861 [GRCh38]
ChrX:153577227..153577229 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110556.2(FLNA):c.7919G>T (p.Ser2640Ile) single nucleotide variant Periventricular nodular heterotopia 1 [RCV000640730] ChrX:154348874 [GRCh38]
ChrX:153577242 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110556.2(FLNA):c.7655C>T (p.Pro2552Leu) single nucleotide variant Periventricular nodular heterotopia 1 [RCV000640731] ChrX:154349463 [GRCh38]
ChrX:153577831 [GRCh37]
ChrX:Xq28
uncertain significance
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 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 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 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
NM_001110556.2(FLNA):c.7559G>A (p.Arg2520His) single nucleotide variant Periventricular nodular heterotopia 1 [RCV001061077] ChrX:154349559 [GRCh38]
ChrX:153577927 [GRCh37]
ChrX:Xq28
uncertain significance
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
NM_001110556.2(FLNA):c.7637A>G (p.Gln2546Arg) single nucleotide variant not specified [RCV000427375] ChrX:154349481 [GRCh38]
ChrX:153577849 [GRCh37]
ChrX:Xq28
likely benign
NM_001110556.2(FLNA):c.7558C>T (p.Arg2520Cys) single nucleotide variant Periventricular nodular heterotopia 1 [RCV000871844] ChrX:154349560 [GRCh38]
ChrX:153577928 [GRCh37]
ChrX:Xq28
benign
NM_001110556.2(FLNA):c.7898_7900del (p.Gly2633del) deletion Periventricular nodular heterotopia 1 [RCV001252502]|Periventricular nodular heterotopia 1 [RCV001340749] ChrX:154348893..154348895 [GRCh38]
ChrX:153577261..153577263 [GRCh37]
ChrX:Xq28
likely pathogenic|uncertain significance
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
NM_001110556.2(FLNA):c.7802G>A (p.Cys2601Tyr) single nucleotide variant Periventricular nodular heterotopia 1 [RCV000475302]|not provided [RCV000507907] ChrX:154348991 [GRCh38]
ChrX:153577359 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110556.2(FLNA):c.7896G>A (p.Trp2632Ter) single nucleotide variant Periventricular nodular heterotopia 1 [RCV000022819] ChrX:154348897 [GRCh38]
ChrX:153577265 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110556.2(FLNA):c.7555C>T (p.Pro2519Ser) single nucleotide variant Periventricular nodular heterotopia 1 [RCV000560750] ChrX:154349563 [GRCh38]
ChrX:153577931 [GRCh37]
ChrX:Xq28
uncertain significance
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 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 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
NM_001110556.2(FLNA):c.7612_7613del (p.Leu2538fs) microsatellite Periventricular nodular heterotopia 1 [RCV001207731] ChrX:154349505..154349506 [GRCh38]
ChrX:153577873..153577874 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110556.2(FLNA):c.7645G>T (p.Ala2549Ser) single nucleotide variant not specified [RCV000611712] ChrX:154349473 [GRCh38]
ChrX:153577841 [GRCh37]
ChrX:Xq28
likely benign
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 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
NM_001110556.2(FLNA):c.7659G>C (p.Gly2553=) single nucleotide variant not provided [RCV000867421] ChrX:154349459 [GRCh38]
ChrX:153577827 [GRCh37]
ChrX:Xq28
likely benign
NM_001110556.2(FLNA):c.7725G>A (p.Lys2575=) single nucleotide variant Cardiovascular phenotype [RCV000621852] ChrX:154349393 [GRCh38]
ChrX:153577761 [GRCh37]
ChrX:Xq28
likely benign
NM_001110556.2(FLNA):c.7784A>C (p.His2595Pro) single nucleotide variant Periventricular nodular heterotopia 1 [RCV000812033] ChrX:154349009 [GRCh38]
ChrX:153577377 [GRCh37]
ChrX:Xq28
uncertain significance
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
NM_001110556.2(FLNA):c.7927C>T (p.Arg2643Cys) single nucleotide variant Periventricular nodular heterotopia 1 [RCV000525068]|not provided [RCV000197706] ChrX:154348866 [GRCh38]
ChrX:153577234 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110556.2(FLNA):c.7929C>T (p.Arg2643=) single nucleotide variant not specified [RCV000616153] ChrX:154348864 [GRCh38]
ChrX:153577232 [GRCh37]
ChrX:Xq28
benign
NM_001110556.2(FLNA):c.7817_7820del (p.Val2606fs) deletion Periventricular nodular heterotopia 1 [RCV000548965] ChrX:154348973..154348976 [GRCh38]
ChrX:153577341..153577344 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110556.2(FLNA):c.7738G>A (p.Val2580Ile) single nucleotide variant Periventricular nodular heterotopia 1 [RCV000640759] ChrX:154349380 [GRCh38]
ChrX:153577748 [GRCh37]
ChrX:Xq28
uncertain significance
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
NM_001110556.2(FLNA):c.7585G>A (p.Glu2529Lys) single nucleotide variant Inborn genetic diseases [RCV000624290] ChrX:154349533 [GRCh38]
ChrX:153577901 [GRCh37]
ChrX:Xq28
uncertain significance
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
NM_001110556.2(FLNA):c.7941_7942del (p.Ter2648SerextTer?) deletion not provided [RCV000198493] ChrX:154348851..154348852 [GRCh38]
ChrX:153577219..153577220 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110556.2(FLNA):c.7568G>A (p.Ser2523Asn) single nucleotide variant not provided [RCV000473615] ChrX:154349550 [GRCh38]
ChrX:153577918 [GRCh37]
ChrX:Xq28
benign
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: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 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 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 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
NM_001110556.2(FLNA):c.7714G>A (p.Val2572Ile) single nucleotide variant Periventricular nodular heterotopia 1 [RCV001057095] ChrX:154349404 [GRCh38]
ChrX:153577772 [GRCh37]
ChrX:Xq28
uncertain significance
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: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 Xq28(chrX:153932045-155611794)x3 copy number gain See cases [RCV000052529] ChrX:153932045..155611794 [GRCh38]
ChrX:152850692..154494649 [NCBI36]
ChrX:Xq28
pathogenic
NM_001110556.2(FLNA):c.7768_7770CTG[1] (p.Leu2591del) microsatellite Periventricular nodular heterotopia 1 [RCV001059893] ChrX:154349020..154349022 [GRCh38]
ChrX:153577388..153577390 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110556.2(FLNA):c.7757-16A>T single nucleotide variant not specified [RCV000418949] ChrX:154349052 [GRCh38]
ChrX:153577420 [GRCh37]
ChrX:Xq28
likely benign
NM_001110556.2(FLNA):c.7756+11= single nucleotide variant not specified [RCV000079713] ChrX:154349351 [GRCh38]
ChrX:153577719 [GRCh37]
ChrX:Xq28
benign
NM_001110556.2(FLNA):c.7862A>G (p.Lys2621Arg) single nucleotide variant Periventricular nodular heterotopia 1 [RCV001238709] ChrX:154348931 [GRCh38]
ChrX:153577299 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110556.2(FLNA):c.7660C>A (p.Pro2554Thr) single nucleotide variant Periventricular nodular heterotopia 1 [RCV000460437] ChrX:154349458 [GRCh38]
ChrX:153577826 [GRCh37]
ChrX:Xq28
uncertain significance
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
NM_001110556.2(FLNA):c.7584C>T (p.His2528=) single nucleotide variant none provided [RCV001285126] ChrX:154349534 [GRCh38]
ChrX:153577902 [GRCh37]
ChrX:Xq28
likely benign
NM_001110556.2(FLNA):c.7928G>A (p.Arg2643His) single nucleotide variant Periventricular nodular heterotopia 1 [RCV001320127] ChrX:154348865 [GRCh38]
ChrX:153577233 [GRCh37]
ChrX:Xq28
uncertain significance

Additional Information

Database Acc Id Source(s)
COSMIC LOC107988032 COSMIC
GTEx LOC107988032 GTEx
Human Proteome Map LOC107988032 Human Proteome Map
NCBI Gene LOC107988032 ENTREZGENE