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Links from MedGen

Items: 1 to 100 of 2071

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
ChrX:153590041
GRCh38:
ChrX:154361673
FLNAE981*Heterotopia, periventricular, X-linked dominantPathogenic
(Nov 2, 2023)		criteria provided, single submitter
2.
GRCh37:
ChrX:153577277-153577278
GRCh38:
ChrX:154348909-154348910
LOC107988032, FLNAV2621fs, V2629fsHeterotopia, periventricular, X-linked dominantPathogenic
(Nov 2, 2023)		criteria provided, single submitter
3.
GRCh37:
ChrX:153594774
GRCh38:
ChrX:154366406
FLNAS377*Heterotopia, periventricular, X-linked dominantLikely pathogeniccriteria provided, single submitter
4.
GRCh37:
ChrX:153581920-153581923
GRCh38:
ChrX:154353552-154353555
FLNAHeterotopia, periventricular, X-linked dominantUncertain significance
(Mar 21, 2023)		criteria provided, single submitter
5.
GRCh37:
ChrX:153590420-153590421
GRCh38:
ChrX:154362052-154362053
FLNAD918fsHeterotopia, periventricular, X-linked dominantPathogenic
(Mar 27, 2023)		criteria provided, single submitter
6.
GRCh37:
ChrX:153582759
GRCh38:
ChrX:154354391
FLNACardiac valvular dysplasia, X-linked, FG syndrome 2, Oto-palato-digital syndrome, type I,
Oto-palato-digital syndrome, type II, Heterotopia, periventricular, X-linked dominant, Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked,
Terminal osseous dysplasia-pigmentary defects syndrome, Melnick-Needles syndrome, Frontometaphyseal dysplasia 1
Uncertain significance
(May 12, 2022)		criteria provided, single submitter
7.
GRCh37:
ChrX:153588619
GRCh38:
ChrX:154360251
FLNAQ1182*Heterotopia, periventricular, X-linked dominantLikely pathogenic
(Apr 21, 2023)		criteria provided, single submitter
8.
GRCh37:
ChrX:153578023-153578024
GRCh38:
ChrX:154349655-154349656
FLNAV2508fs, V2516fsHeterotopia, periventricular, X-linked dominantPathogenic
(Mar 23, 2023)		criteria provided, single submitter
9.
GRCh37:
ChrX:153591165
GRCh38:
ChrX:154362797
FLNAOto-palato-digital syndrome, type II, Frontometaphyseal dysplasia, Melnick-Needles syndrome,
Heterotopia, periventricular, X-linked dominant		Benign
(Oct 20, 2022)		criteria provided, single submitter
10.
GRCh37:
ChrX:153195397-153583460
FLNA, HCFC1, IRAK1, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, RENBP, TEX28, TKTL1, TMEM187
Methylmalonic acidemia with homocystinuria, type cblXUncertain significance
(Aug 16, 2022)		criteria provided, single submitter
11.
GRCh37:
ChrX:153585782-153775961
ATP6AP1, DNASE1L1, EMD, FAM3A, FAM50A, FLNA, G6PD, GDI1, IKBKG, LAGE3, PLXNA3, RPL10, SLC10A3, TAFAZZIN, UBL4A
Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Frontometaphyseal dysplasia,
Oto-palato-digital syndrome, type II		Uncertain significance
(Aug 16, 2022)		criteria provided, single submitter
12.
GRCh37:
ChrX:153586547-153609557
EMD, FLNAHeterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Frontometaphyseal dysplasia,
Oto-palato-digital syndrome, type II		Uncertain significance
(Jan 23, 2022)		criteria provided, single submitter
13.
GRCh37:
ChrX:153595748-153596947
FLNAHeterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Frontometaphyseal dysplasia,
Oto-palato-digital syndrome, type II		Pathogenic
(Oct 18, 2022)		criteria provided, single submitter
14.
GRCh37:
ChrX:153592874-153593874
FLNAHeterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Frontometaphyseal dysplasia,
Oto-palato-digital syndrome, type II		Pathogenic
(Oct 26, 2021)		criteria provided, single submitter
15.
GRCh37:
ChrX:153128118-153664237
ARHGAP4, ATP6AP1, AVPR2, DNASE1L1, EMD, FLNA, HCFC1, IRAK1, OPN1MW2, L1CAM, MECP2, NAA10, OPN1LW, OPN1MW, RENBP, RPL10, TAFAZZIN, TEX28, TKTL1, TMEM187
Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Frontometaphyseal dysplasia,
Oto-palato-digital syndrome, type II		Uncertain significance
(Oct 6, 2022)		criteria provided, single submitter
16.
GRCh37:
ChrX:153580712
GRCh38:
ChrX:154352344
FLNAHeterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Frontometaphyseal dysplasia,
Oto-palato-digital syndrome, type II		Likely benign
(Jun 14, 2022)		criteria provided, single submitter
17.
GRCh37:
ChrX:152014869-155171615
FAM3A, FAM50A, CMC4, CTAG1A, CTAG1B, CTAG2, F8A1, F8A2, F8A3, ABCD1, ARHGAP4, ATP2B3, ATP6AP1, AVPR2, BCAP31, BGN, BRCC3, CCNQ, CLIC2, DKC1, DNASE1L1, DUSP9, EMD, F8, FLNA, FUNDC2, G6PD, GAB3, GDI1, H2AB1, H2AB2, H2AB3, HAUS7, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MAGEA1, MECP2, MPP1, MTCP1, NAA10, NSDHL, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, SMIM9, RAB39B, RENBP, RPL10, SLC10A3, SLC6A8, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, TMLHE, TREX2, UBL4A, VBP1, ZFP92, ZNF185, ZNF275
Spastic paraplegia, Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome,
Frontometaphyseal dysplasia, Oto-palato-digital syndrome, type II, Creatine transporter deficiency,
X-linked Emery-Dreifuss muscular dystrophy, 3-Methylglutaconic aciduria type 2, Adrenoleukodystrophy
Pathogenic
(Oct 17, 2022)		criteria provided, single submitter
18.
GRCh37:
ChrX:153590629
GRCh38:
ChrX:154362261
FLNAMelnick-Needles syndrome, Heterotopia, periventricular, X-linked dominant, Frontometaphyseal dysplasia,
Oto-palato-digital syndrome, type II		Likely benign
(May 4, 2022)		criteria provided, single submitter
19.
GRCh37:
ChrX:153586003
GRCh38:
ChrX:154357635
FLNAMelnick-Needles syndrome, Heterotopia, periventricular, X-linked dominant, Frontometaphyseal dysplasia,
Oto-palato-digital syndrome, type II		Likely benign
(Sep 24, 2022)		criteria provided, single submitter
20.
GRCh37:
ChrX:153586616
GRCh38:
ChrX:154358248
FLNAT1569NHeterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Oto-palato-digital syndrome, type II,
Frontometaphyseal dysplasia		Uncertain significance
(Apr 16, 2022)		criteria provided, single submitter
21.
GRCh37:
ChrX:153578058
GRCh38:
ChrX:154349690
FLNAP2496L, P2504LHeterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Oto-palato-digital syndrome, type II,
Frontometaphyseal dysplasia		Uncertain significance
(Jul 19, 2022)		criteria provided, single submitter
22.
GRCh37:
ChrX:153590508
GRCh38:
ChrX:154362140
FLNAL889FHeterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Oto-palato-digital syndrome, type II,
Frontometaphyseal dysplasia		Benign
(Oct 24, 2022)		criteria provided, single submitter
23.
GRCh37:
ChrX:153581561
GRCh38:
ChrX:154353193
FLNAV2004M, V2012MHeterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Oto-palato-digital syndrome, type II,
Frontometaphyseal dysplasia		Benign
(Oct 19, 2022)		criteria provided, single submitter
24.
GRCh37:
ChrX:153594913
GRCh38:
ChrX:154366545
FLNAHeterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Oto-palato-digital syndrome, type II,
Frontometaphyseal dysplasia		Likely benign
(Sep 18, 2022)		criteria provided, single submitter
25.
GRCh37:
ChrX:153596475
GRCh38:
ChrX:154368107
FLNAHeterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Oto-palato-digital syndrome, type II,
Frontometaphyseal dysplasia		Benign
(Sep 27, 2022)		criteria provided, single submitter
26.
GRCh37:
ChrX:153587492
GRCh38:
ChrX:154359124
FLNAV1445GHeterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Oto-palato-digital syndrome, type II,
Frontometaphyseal dysplasia		Uncertain significance
(Feb 5, 2022)		criteria provided, single submitter
27.
GRCh37:
ChrX:153580236
GRCh38:
ChrX:154351868
FLNAOto-palato-digital syndrome, type II, Frontometaphyseal dysplasia, Heterotopia, periventricular, X-linked dominant,
Melnick-Needles syndrome		Likely benign
(Mar 15, 2022)		criteria provided, single submitter
28.
GRCh37:
ChrX:153587970
GRCh38:
ChrX:154359602
FLNAS1342GOto-palato-digital syndrome, type II, Frontometaphyseal dysplasia, Heterotopia, periventricular, X-linked dominant,
Melnick-Needles syndrome		Uncertain significance
(May 4, 2022)		criteria provided, single submitter
29.
GRCh37:
ChrX:153592750
GRCh38:
ChrX:154364382
FLNAMelnick-Needles syndrome, Frontometaphyseal dysplasia, Heterotopia, periventricular, X-linked dominant,
Oto-palato-digital syndrome, type II		Likely benign
(Jun 13, 2022)		criteria provided, single submitter
30.
GRCh37:
ChrX:153590596
GRCh38:
ChrX:154362228
FLNAOto-palato-digital syndrome, type II, Melnick-Needles syndrome, Frontometaphyseal dysplasia,
Heterotopia, periventricular, X-linked dominant		Likely benign
(Aug 6, 2022)		criteria provided, single submitter
31.
GRCh37:
ChrX:153577292
GRCh38:
ChrX:154348924
FLNA, LOC107988032Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia, Heterotopia, periventricular, X-linked dominant,
Melnick-Needles syndrome		Likely benign
(Nov 22, 2021)		criteria provided, single submitter
32.
GRCh37:
ChrX:153580082
GRCh38:
ChrX:154351714
FLNAFrontometaphyseal dysplasia, Heterotopia, periventricular, X-linked dominant, Oto-palato-digital syndrome, type II,
Melnick-Needles syndrome		Likely benign
(Jul 15, 2022)		criteria provided, single submitter
33.
GRCh37:
ChrX:153578558
GRCh38:
ChrX:154350190
FLNAF2384I, F2392IFrontometaphyseal dysplasia, Heterotopia, periventricular, X-linked dominant, Oto-palato-digital syndrome, type II,
Melnick-Needles syndrome		Uncertain significance
(Apr 1, 2022)		criteria provided, single submitter
34.
GRCh37:
ChrX:153588672
GRCh38:
ChrX:154360304
FLNAK1164RFrontometaphyseal dysplasia, Heterotopia, periventricular, X-linked dominant, Oto-palato-digital syndrome, type II,
Melnick-Needles syndrome		Uncertain significance
(Jan 3, 2022)		criteria provided, single submitter
35.
GRCh37:
ChrX:153580287
GRCh38:
ChrX:154351919
FLNAG2283D, G2291DHeterotopia, periventricular, X-linked dominant, Frontometaphyseal dysplasia, Melnick-Needles syndrome,
Oto-palato-digital syndrome, type II, not provided		Uncertain significance
(Aug 2, 2022)		criteria provided, multiple submitters, no conflicts
36.
GRCh37:
ChrX:153589934
GRCh38:
ChrX:154361566
FLNAHeterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Oto-palato-digital syndrome, type II,
Frontometaphyseal dysplasia		Uncertain significance
(Aug 10, 2022)		criteria provided, single submitter
37.
GRCh37:
ChrX:153583039
GRCh38:
ChrX:154354671
FLNAR1753Q, R1745QOto-palato-digital syndrome, type II, Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome,
Frontometaphyseal dysplasia		Benign
(Oct 16, 2022)		criteria provided, single submitter
38.
GRCh37:
ChrX:153583449
GRCh38:
ChrX:154355081
FLNAOto-palato-digital syndrome, type II, Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome,
Frontometaphyseal dysplasia		Likely benign
(Aug 31, 2022)		criteria provided, single submitter
39.
GRCh37:
ChrX:153577853
GRCh38:
ChrX:154349485
LOC107988032, FLNAP2545A, P2537AMelnick-Needles syndrome, Heterotopia, periventricular, X-linked dominant, Frontometaphyseal dysplasia,
Oto-palato-digital syndrome, type II		Benign
(Jul 7, 2022)		criteria provided, single submitter
40.
GRCh37:
ChrX:153583454
GRCh38:
ChrX:154355086
FLNAMelnick-Needles syndrome, Heterotopia, periventricular, X-linked dominant, Frontometaphyseal dysplasia,
Oto-palato-digital syndrome, type II		Likely benign
(Aug 9, 2022)		criteria provided, single submitter
41.
GRCh37:
ChrX:153579297
GRCh38:
ChrX:154350929
FLNAY2371C, Y2379CMelnick-Needles syndrome, Heterotopia, periventricular, X-linked dominant, Frontometaphyseal dysplasia,
Oto-palato-digital syndrome, type II		Uncertain significance
(Oct 10, 2022)		criteria provided, single submitter
42.
GRCh37:
ChrX:153583175
GRCh38:
ChrX:154354807
FLNAMelnick-Needles syndrome, Heterotopia, periventricular, X-linked dominant, Frontometaphyseal dysplasia,
Oto-palato-digital syndrome, type II		Benign
(Dec 9, 2021)		criteria provided, single submitter
43.
GRCh37:
ChrX:153577368
GRCh38:
ChrX:154349000
LOC107988032, FLNAR2590K, R2598KMelnick-Needles syndrome, Heterotopia, periventricular, X-linked dominant, Frontometaphyseal dysplasia,
Oto-palato-digital syndrome, type II		Uncertain significance
(Oct 13, 2022)		criteria provided, single submitter
44.
GRCh37:
ChrX:153585893
GRCh38:
ChrX:154357525
FLNAFamilial thoracic aortic aneurysm and aortic dissection, Oto-palato-digital syndrome, type II, Melnick-Needles syndrome,
Frontometaphyseal dysplasia, Heterotopia, periventricular, X-linked dominant		Likely benign
(Sep 6, 2023)		criteria provided, multiple submitters, no conflicts
45.
GRCh37:
ChrX:153587835
GRCh38:
ChrX:154359467
FLNAOto-palato-digital syndrome, type II, Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome,
Frontometaphyseal dysplasia, not specified		Conflicting interpretations of pathogenicity
(Jun 2, 2023)		criteria provided, conflicting interpretations
46.
GRCh37:
ChrX:153588224
GRCh38:
ChrX:154359856
FLNAOto-palato-digital syndrome, type II, Frontometaphyseal dysplasia, Heterotopia, periventricular, X-linked dominant,
Melnick-Needles syndrome		Likely benign
(Oct 7, 2022)		criteria provided, single submitter
47.
GRCh37:
ChrX:153581061
GRCh38:
ChrX:154352693
FLNAFrontometaphyseal dysplasia, Heterotopia, periventricular, X-linked dominant, Oto-palato-digital syndrome, type II,
Melnick-Needles syndrome		Likely benign
(Sep 27, 2022)		criteria provided, single submitter
48.
GRCh37:
ChrX:153592909
GRCh38:
ChrX:154364541
FLNAD669EHeterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Oto-palato-digital syndrome, type II,
Frontometaphyseal dysplasia		Uncertain significance
(Oct 9, 2022)		criteria provided, single submitter
49.
GRCh37:
ChrX:153587371
GRCh38:
ChrX:154359003
FLNAHeterotopia, periventricular, X-linked dominant, Oto-palato-digital syndrome, type II, Melnick-Needles syndrome,
Frontometaphyseal dysplasia, not provided		Conflicting interpretations of pathogenicity
(Mar 29, 2022)		criteria provided, conflicting interpretations
50.
GRCh37:
ChrX:153577281
GRCh38:
ChrX:154348913
LOC107988032, FLNAT2619R, T2627RMelnick-Needles syndrome, Heterotopia, periventricular, X-linked dominant, Oto-palato-digital syndrome, type II,
Frontometaphyseal dysplasia		Benign
(Jul 6, 2022)		criteria provided, single submitter
51.
GRCh37:
ChrX:153577324
GRCh38:
ChrX:154348956
LOC107988032, FLNAL2613V, L2605VMelnick-Needles syndrome, Heterotopia, periventricular, X-linked dominant, Oto-palato-digital syndrome, type II,
Frontometaphyseal dysplasia		Likely benign
(Mar 25, 2022)		criteria provided, single submitter
52.
GRCh37:
ChrX:153583399
GRCh38:
ChrX:154355031
FLNAV1663M, V1671MOto-palato-digital syndrome, type II, Frontometaphyseal dysplasia, Melnick-Needles syndrome,
Heterotopia, periventricular, X-linked dominant		Uncertain significance
(Jan 21, 2022)		criteria provided, single submitter
53.
GRCh37:
ChrX:153578188
GRCh38:
ChrX:154349820
FLNAA2453T, A2461TOto-palato-digital syndrome, type II, Frontometaphyseal dysplasia, Melnick-Needles syndrome,
Heterotopia, periventricular, X-linked dominant		Uncertain significance
(Oct 19, 2022)		criteria provided, single submitter
54.
GRCh37:
ChrX:153582783
GRCh38:
ChrX:154354415
FLNAOto-palato-digital syndrome, type II, Melnick-Needles syndrome, Heterotopia, periventricular, X-linked dominant,
Frontometaphyseal dysplasia		Likely benign
(Jul 22, 2022)		criteria provided, single submitter
55.
GRCh37:
ChrX:153586936
GRCh38:
ChrX:154358568
FLNAG1492DHeterotopia, periventricular, X-linked dominant, Frontometaphyseal dysplasia, Oto-palato-digital syndrome, type II,
Melnick-Needles syndrome		Uncertain significance
(Jul 11, 2022)		criteria provided, single submitter
56.
GRCh37:
ChrX:153577253
GRCh38:
ChrX:154348885
FLNA, LOC107988032Oto-palato-digital syndrome, type II, Melnick-Needles syndrome, Heterotopia, periventricular, X-linked dominant,
Frontometaphyseal dysplasia		Likely benign
(Aug 23, 2022)		criteria provided, single submitter
57.
GRCh37:
ChrX:153594575
GRCh38:
ChrX:154366207
FLNAV416LInborn genetic diseases, Heterotopia, periventricular, X-linked dominant, Frontometaphyseal dysplasia,
Oto-palato-digital syndrome, type II, Melnick-Needles syndrome		Conflicting interpretations of pathogenicity
(Sep 20, 2022)		criteria provided, conflicting interpretations
58.
GRCh37:
ChrX:153581410
GRCh38:
ChrX:154353042
FLNAT2054I, T2062IHeterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Frontometaphyseal dysplasia,
Oto-palato-digital syndrome, type II		Likely benign
(Mar 25, 2022)		criteria provided, single submitter
59.
GRCh37:
ChrX:153594381
GRCh38:
ChrX:154366013
FLNAHeterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Frontometaphyseal dysplasia,
Oto-palato-digital syndrome, type II		Likely benign
(Dec 21, 2021)		criteria provided, single submitter
60.
GRCh37:
ChrX:153581147
GRCh38:
ChrX:154352779
FLNAMelnick-Needles syndrome, Oto-palato-digital syndrome, type II, Heterotopia, periventricular, X-linked dominant,
Frontometaphyseal dysplasia, not provided		Benign/Likely benign
(Feb 1, 2023)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
ChrX:153592614
GRCh38:
ChrX:154364246
FLNAHeterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Frontometaphyseal dysplasia,
Oto-palato-digital syndrome, type II		Likely benign
(Sep 9, 2022)		criteria provided, single submitter
62.
GRCh37:
ChrX:153578159
GRCh38:
ChrX:154349791
FLNAOto-palato-digital syndrome, type II, Frontometaphyseal dysplasia, Melnick-Needles syndrome,
Heterotopia, periventricular, X-linked dominant		Likely benign
(Oct 23, 2022)		criteria provided, single submitter
63.
GRCh37:
ChrX:153583175
GRCh38:
ChrX:154354807
FLNAHeterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Frontometaphyseal dysplasia,
Oto-palato-digital syndrome, type II		Likely benign
(Mar 11, 2022)		criteria provided, single submitter
64.
GRCh37:
ChrX:153599520
GRCh38:
ChrX:154371152
FLNAE32KOto-palato-digital syndrome, type II, Frontometaphyseal dysplasia, Heterotopia, periventricular, X-linked dominant,
Melnick-Needles syndrome		Uncertain significance
(Apr 29, 2022)		criteria provided, single submitter
65.
GRCh37:
ChrX:153578177
GRCh38:
ChrX:154349809
FLNAOto-palato-digital syndrome, type II, Frontometaphyseal dysplasia, Melnick-Needles syndrome,
Heterotopia, periventricular, X-linked dominant		Likely benign
(Apr 25, 2022)		criteria provided, single submitter
66.
GRCh37:
ChrX:153578554
GRCh38:
ChrX:154350186
FLNAI2393N, I2385NHeterotopia, periventricular, X-linked dominant, Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia,
Melnick-Needles syndrome		Uncertain significance
(Apr 22, 2022)		criteria provided, single submitter
67.
GRCh37:
ChrX:153592938
GRCh38:
ChrX:154364570
FLNAM660VHeterotopia, periventricular, X-linked dominant, Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia,
Melnick-Needles syndrome		Likely benign
(Sep 28, 2022)		criteria provided, single submitter
68.
GRCh37:
ChrX:153578062
GRCh38:
ChrX:154349694
FLNAG2503S, G2495SHeterotopia, periventricular, X-linked dominant, Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia,
Melnick-Needles syndrome		Uncertain significance
(Feb 23, 2022)		criteria provided, single submitter
69.
GRCh37:
ChrX:153590775
GRCh38:
ChrX:154362407
FLNAOto-palato-digital syndrome, type II, Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome,
Frontometaphyseal dysplasia		Likely benign
(Aug 24, 2022)		criteria provided, single submitter
70.
GRCh37:
ChrX:153594973
GRCh38:
ChrX:154366605
FLNAT341IHeterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Frontometaphyseal dysplasia,
Oto-palato-digital syndrome, type II		Uncertain significance
(Apr 18, 2022)		criteria provided, single submitter
71.
GRCh37:
ChrX:153587725
GRCh38:
ChrX:154359357
FLNAA1398PHeterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Frontometaphyseal dysplasia,
Oto-palato-digital syndrome, type II		Uncertain significance
(Feb 21, 2022)		criteria provided, single submitter
72.
GRCh37:
ChrX:153581960
GRCh38:
ChrX:154353592
FLNAQ1933R, Q1941RHeterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Frontometaphyseal dysplasia,
Oto-palato-digital syndrome, type II		Uncertain significance
(Jan 26, 2022)		criteria provided, single submitter
73.
GRCh37:
ChrX:153590400
GRCh38:
ChrX:154362032
FLNAI925FHeterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Frontometaphyseal dysplasia,
Oto-palato-digital syndrome, type II		Likely benign
(Aug 10, 2022)		criteria provided, single submitter
74.
GRCh37:
ChrX:153580533
GRCh38:
ChrX:154352165
FLNAHeterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Frontometaphyseal dysplasia,
Oto-palato-digital syndrome, type II		Likely benign
(Dec 30, 2021)		criteria provided, single submitter
75.
GRCh37:
ChrX:153577855
GRCh38:
ChrX:154349487
LOC107988032, FLNAA2536D, A2544DOto-palato-digital syndrome, type II, Frontometaphyseal dysplasia, Heterotopia, periventricular, X-linked dominant,
Melnick-Needles syndrome		Uncertain significance
(Aug 30, 2022)		criteria provided, single submitter
76.
GRCh37:
ChrX:153580535
GRCh38:
ChrX:154352167
FLNAOto-palato-digital syndrome, type II, Frontometaphyseal dysplasia, Heterotopia, periventricular, X-linked dominant,
Melnick-Needles syndrome		Likely benign
(Feb 2, 2022)		criteria provided, single submitter
77.
GRCh37:
ChrX:153588821
GRCh38:
ChrX:154360453
FLNAC1114WOto-palato-digital syndrome, type II, Frontometaphyseal dysplasia, Heterotopia, periventricular, X-linked dominant,
Melnick-Needles syndrome		Uncertain significance
(Aug 8, 2022)		criteria provided, single submitter
78.
GRCh37:
ChrX:153592897
GRCh38:
ChrX:154364529
FLNAD673EFLNA-related condition, Melnick-Needles syndrome, Oto-palato-digital syndrome, type II,
Heterotopia, periventricular, X-linked dominant, Frontometaphyseal dysplasia		Uncertain significance
(Mar 16, 2023)		criteria provided, multiple submitters, no conflicts
79.
GRCh37:
ChrX:153581815
GRCh38:
ChrX:154353447
FLNAOto-palato-digital syndrome, type II, Melnick-Needles syndrome, Frontometaphyseal dysplasia,
Heterotopia, periventricular, X-linked dominant		Likely benign
(Mar 14, 2022)		criteria provided, single submitter
80.
GRCh37:
ChrX:153585977
GRCh38:
ChrX:154357609
FLNAK1590NHeterotopia, periventricular, X-linked dominant, Frontometaphyseal dysplasia, Oto-palato-digital syndrome, type II,
Melnick-Needles syndrome		Uncertain significance
(Sep 15, 2022)		criteria provided, single submitter
81.
GRCh37:
ChrX:153592648
GRCh38:
ChrX:154364280
FLNAOto-palato-digital syndrome, type II, Melnick-Needles syndrome, Frontometaphyseal dysplasia,
Heterotopia, periventricular, X-linked dominant		Likely benign
(Jan 12, 2022)		criteria provided, single submitter
82.
GRCh37:
ChrX:153594410
GRCh38:
ChrX:154366042
FLNAT471AHeterotopia, periventricular, X-linked dominant, Frontometaphyseal dysplasia, Oto-palato-digital syndrome, type II,
Melnick-Needles syndrome		Likely benign
(Sep 3, 2022)		criteria provided, single submitter
83.
GRCh37:
ChrX:153588935
GRCh38:
ChrX:154360567
FLNAOto-palato-digital syndrome, type II, Melnick-Needles syndrome, Frontometaphyseal dysplasia,
Heterotopia, periventricular, X-linked dominant		Likely benign
(Apr 12, 2022)		criteria provided, single submitter
84.
GRCh37:
ChrX:153590954
GRCh38:
ChrX:154362586
FLNAHeterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Frontometaphyseal dysplasia,
Oto-palato-digital syndrome, type II		Likely benign
(Sep 15, 2022)		criteria provided, single submitter
85.
GRCh37:
ChrX:153591142
GRCh38:
ChrX:154362774
FLNAG764AHeterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Frontometaphyseal dysplasia,
Oto-palato-digital syndrome, type II		Benign
(Oct 26, 2022)		criteria provided, single submitter
86.
GRCh37:
ChrX:153595904
GRCh38:
ChrX:154367536
FLNAOto-palato-digital syndrome, type II, Melnick-Needles syndrome, Frontometaphyseal dysplasia,
Heterotopia, periventricular, X-linked dominant		Likely benign
(May 27, 2022)		criteria provided, single submitter
87.
GRCh37:
ChrX:153592913
GRCh38:
ChrX:154364545
FLNAQ668POto-palato-digital syndrome, type II, Heterotopia, periventricular, X-linked dominant, Frontometaphyseal dysplasia,
Melnick-Needles syndrome		Uncertain significance
(Dec 29, 2021)		criteria provided, single submitter
88.
GRCh37:
ChrX:153590175
GRCh38:
ChrX:154361807
FLNAMelnick-Needles syndrome, Oto-palato-digital syndrome, type II, Heterotopia, periventricular, X-linked dominant,
Frontometaphyseal dysplasia		Likely benign
(Sep 4, 2022)		criteria provided, single submitter
89.
GRCh37:
ChrX:153590831
GRCh38:
ChrX:154362463
FLNAMelnick-Needles syndrome, Heterotopia, periventricular, X-linked dominant, Oto-palato-digital syndrome, type II,
Frontometaphyseal dysplasia		Likely benign
(Apr 15, 2022)		criteria provided, single submitter
90.
GRCh37:
ChrX:153599572
GRCh38:
ChrX:154371204
FLNAMelnick-Needles syndrome, Heterotopia, periventricular, X-linked dominant, Oto-palato-digital syndrome, type II,
Frontometaphyseal dysplasia		Likely benign
(Jul 2, 2022)		criteria provided, single submitter
91.
GRCh37:
ChrX:153591166-153591171
GRCh38:
ChrX:154362798-154362803
FLNAMelnick-Needles syndrome, Oto-palato-digital syndrome, type II, Heterotopia, periventricular, X-linked dominant,
Frontometaphyseal dysplasia		Likely benign
(Sep 29, 2022)		criteria provided, single submitter
92.
GRCh37:
ChrX:153591063
GRCh38:
ChrX:154362695
FLNAMelnick-Needles syndrome, Heterotopia, periventricular, X-linked dominant, Oto-palato-digital syndrome, type II,
Frontometaphyseal dysplasia		Likely benign
(May 29, 2022)		criteria provided, single submitter
93.
GRCh37:
ChrX:153578543
GRCh38:
ChrX:154350175
FLNAN2389D, N2397DMelnick-Needles syndrome, Oto-palato-digital syndrome, type II, Heterotopia, periventricular, X-linked dominant,
Frontometaphyseal dysplasia		Uncertain significance
(Aug 23, 2022)		criteria provided, single submitter
94.
GRCh37:
ChrX:153593594
GRCh38:
ChrX:154365226
FLNAG534Vnot provided, Oto-palato-digital syndrome, type II, Melnick-Needles syndrome,
Frontometaphyseal dysplasia, Heterotopia, periventricular, X-linked dominant		Conflicting interpretations of pathogenicity
(Jul 25, 2022)		criteria provided, conflicting interpretations
95.
GRCh37:
ChrX:153593253
GRCh38:
ChrX:154364885
FLNAMelnick-Needles syndrome, Heterotopia, periventricular, X-linked dominant, Oto-palato-digital syndrome, type II,
Frontometaphyseal dysplasia		Likely benign
(Dec 23, 2021)		criteria provided, single submitter
96.
GRCh37:
ChrX:153586818
GRCh38:
ChrX:154358450
FLNAMelnick-Needles syndrome, Heterotopia, periventricular, X-linked dominant, Oto-palato-digital syndrome, type II,
Frontometaphyseal dysplasia		Likely benign
(Aug 16, 2022)		criteria provided, single submitter
97.
GRCh37:
ChrX:153582526
GRCh38:
ChrX:154354158
FLNAH1842Q, H1850QHeterotopia, periventricular, X-linked dominant, Frontometaphyseal dysplasia, Oto-palato-digital syndrome, type II,
Melnick-Needles syndrome		Uncertain significance
(Oct 19, 2022)		criteria provided, single submitter
98.
GRCh37:
ChrX:153594576
GRCh38:
ChrX:154366208
FLNAMelnick-Needles syndrome, Heterotopia, periventricular, X-linked dominant, Oto-palato-digital syndrome, type II,
Frontometaphyseal dysplasia		Likely benign
(May 1, 2022)		criteria provided, single submitter
99.
GRCh37:
ChrX:153594464
GRCh38:
ChrX:154366096
FLNAV453IOto-palato-digital syndrome, type II, Frontometaphyseal dysplasia, Heterotopia, periventricular, X-linked dominant,
Melnick-Needles syndrome		Uncertain significance
(Aug 10, 2022)		criteria provided, single submitter
100.
GRCh37:
ChrX:153594425
GRCh38:
ChrX:154366057
FLNAP466SOto-palato-digital syndrome, type II, Frontometaphyseal dysplasia, Heterotopia, periventricular, X-linked dominant,
Melnick-Needles syndrome		Uncertain significance
(Aug 22, 2022)		criteria provided, single submitter
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