| - GRCh37:
- ChrX:153596249
- GRCh38:
- ChrX:154367881
| FLNA | G195S | Oto-palato-digital syndrome, type II | Likely pathogenic
(Jan 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153591165
- GRCh38:
- ChrX:154362797
| FLNA | | Heterotopia, periventricular, X-linked dominant, Frontometaphyseal dysplasia, Melnick-Needles syndrome,
Oto-palato-digital syndrome, type II | Benign
(Oct 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153195397-153583460
| OPN1MW, IRAK1, NAA10, OPN1MW2, TKTL1, TEX28, OPN1LW, MECP2, RENBP, FLNA, HCFC1, TMEM187 | | not provided, Methylmalonic acidemia with homocystinuria, type cblX, 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 |
| - GRCh37:
- ChrX:153585782-153775961
| FLNA, TAFAZZIN, RPL10, FAM50A, UBL4A, EMD, LAGE3, FAM3A, SLC10A3, PLXNA3, DNASE1L1, IKBKG, GDI1, G6PD, ATP6AP1 | | 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 |
| - GRCh37:
- ChrX:153586547-153609557
| FLNA, EMD | | Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Frontometaphyseal dysplasia,
Oto-palato-digital syndrome, type II | Uncertain significance
(Jan 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153595748-153596947
| FLNA | | Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Frontometaphyseal dysplasia,
Oto-palato-digital syndrome, type II | Pathogenic
(Oct 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153592874-153593874
| FLNA | | Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Frontometaphyseal dysplasia,
Oto-palato-digital syndrome, type II | Pathogenic
(Oct 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153128118-153664237
| OPN1MW2, TKTL1, AVPR2, OPN1MW, IRAK1, NAA10, TEX28, TMEM187, ARHGAP4, DNASE1L1, MECP2, ATP6AP1, FLNA, L1CAM, EMD, RPL10, OPN1LW, HCFC1, TAFAZZIN, RENBP | | 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 |
| - GRCh37:
- ChrX:153580712
- GRCh38:
- ChrX:154352344
| FLNA | | Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Frontometaphyseal dysplasia,
Oto-palato-digital syndrome, type II | Likely benign
(Jun 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:152014869-155171615
| FAM3A, H2AB3, OPN1MW2, HCFC1, CTAG2, SLC10A3, FLNA, ZNF275, PLXNA3, BRCC3, CMC4, HAUS7, UBL4A, TMEM187, FAM50A, CCNQ, BGN, IRAK1, CLIC2, F8, TMLHE, TAFAZZIN, ZFP92, NAA10, MECP2, SSR4, RPL10, FUNDC2, PNMA6A, SLC6A8, LOC100509091, G6PD, ABCD1, NSDHL, F8A2, LAGE3, PLXNB3, PNCK, PNMA5, CTAG1A, GAB3, PNMA6E, TKTL1, PNMA3, TEX28, IDH3G, OPN1LW, RENBP, RAB39B, MAGEA1, SMIM9, DNASE1L1, EMD, GDI1, VBP1, IKBKG, TREX2, AVPR2, SRPK3, BCAP31, H2AB1, ZNF185, H2AB2, ATP2B3, F8A1, OPN1MW, CTAG1B, L1CAM, ARHGAP4, DKC1, MPP1, F8A3, DUSP9, MTCP1, ATP6AP1, PDZD4 | | Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Oto-palato-digital syndrome, type II,
Frontometaphyseal dysplasia, X-linked Emery-Dreifuss muscular dystrophy, Adrenoleukodystrophy,
Spastic paraplegia, Creatine transporter deficiency, 3-Methylglutaconic aciduria type 2
| Pathogenic
(Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153590629
- GRCh38:
- ChrX:154362261
| FLNA | | Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Oto-palato-digital syndrome, type II,
Frontometaphyseal dysplasia | Likely benign
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153586003
- GRCh38:
- ChrX:154357635
| FLNA | | Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Oto-palato-digital syndrome, type II,
Frontometaphyseal dysplasia | Likely benign
(Sep 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153586616
- GRCh38:
- ChrX:154358248
| FLNA | T1569N | Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Oto-palato-digital syndrome, type II,
Frontometaphyseal dysplasia | Uncertain significance
(Apr 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153578058
- GRCh38:
- ChrX:154349690
| FLNA | P2496L, P2504L | Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Oto-palato-digital syndrome, type II,
Frontometaphyseal dysplasia | Uncertain significance
(Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153590508
- GRCh38:
- ChrX:154362140
| FLNA | L889F | Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Oto-palato-digital syndrome, type II,
Frontometaphyseal dysplasia | Benign
(Oct 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153581561
- GRCh38:
- ChrX:154353193
| FLNA | V2004M, V2012M | Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Oto-palato-digital syndrome, type II,
Frontometaphyseal dysplasia | Benign
(Oct 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153594913
- GRCh38:
- ChrX:154366545
| FLNA | | Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Oto-palato-digital syndrome, type II,
Frontometaphyseal dysplasia | Likely benign
(Sep 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153596475
- GRCh38:
- ChrX:154368107
| FLNA | | Frontometaphyseal dysplasia, Oto-palato-digital syndrome, type II, Heterotopia, periventricular, X-linked dominant,
Melnick-Needles syndrome | Benign
(Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153587492
- GRCh38:
- ChrX:154359124
| FLNA | V1445G | Frontometaphyseal dysplasia, Oto-palato-digital syndrome, type II, Heterotopia, periventricular, X-linked dominant,
Melnick-Needles syndrome | Uncertain significance
(Feb 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153580236
- GRCh38:
- ChrX:154351868
| FLNA | | Frontometaphyseal dysplasia, Oto-palato-digital syndrome, type II, Heterotopia, periventricular, X-linked dominant,
Melnick-Needles syndrome | Likely benign
(Mar 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153587970
- GRCh38:
- ChrX:154359602
| FLNA | S1342G | Frontometaphyseal dysplasia, Oto-palato-digital syndrome, type II, Heterotopia, periventricular, X-linked dominant,
Melnick-Needles syndrome | Uncertain significance
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153592750
- GRCh38:
- ChrX:154364382
| FLNA | | Frontometaphyseal dysplasia, Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome,
Oto-palato-digital syndrome, type II | Likely benign
(Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153590596
- GRCh38:
- ChrX:154362228
| FLNA | | Oto-palato-digital syndrome, type II, Melnick-Needles syndrome, Frontometaphyseal dysplasia,
Heterotopia, periventricular, X-linked dominant | Likely benign
(Aug 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153577292
- GRCh38:
- ChrX:154348924
| FLNA, LOC107988032 | | Oto-palato-digital syndrome, type II, Melnick-Needles syndrome, Frontometaphyseal dysplasia,
Heterotopia, periventricular, X-linked dominant | Likely benign
(Nov 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153580082
- GRCh38:
- ChrX:154351714
| FLNA | | Frontometaphyseal dysplasia, Heterotopia, periventricular, X-linked dominant, Oto-palato-digital syndrome, type II,
Melnick-Needles syndrome | Likely benign
(Jul 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153578558
- GRCh38:
- ChrX:154350190
| FLNA | F2384I, F2392I | Frontometaphyseal dysplasia, Heterotopia, periventricular, X-linked dominant, Oto-palato-digital syndrome, type II,
Melnick-Needles syndrome | Uncertain significance
(Apr 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153588672
- GRCh38:
- ChrX:154360304
| FLNA | K1164R | Frontometaphyseal dysplasia, Heterotopia, periventricular, X-linked dominant, Oto-palato-digital syndrome, type II,
Melnick-Needles syndrome | Uncertain significance
(Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153580287
- GRCh38:
- ChrX:154351919
| FLNA | G2283D, G2291D | Heterotopia, 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 |
| - GRCh37:
- ChrX:153589934
- GRCh38:
- ChrX:154361566
| FLNA | | Oto-palato-digital syndrome, type II, Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome,
Frontometaphyseal dysplasia | Uncertain significance
(Aug 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153583039
- GRCh38:
- ChrX:154354671
| FLNA | R1753Q, R1745Q | Oto-palato-digital syndrome, type II, Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome,
Frontometaphyseal dysplasia | Benign
(Oct 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153583449
- GRCh38:
- ChrX:154355081
| FLNA | | Oto-palato-digital syndrome, type II, Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome,
Frontometaphyseal dysplasia | Likely benign
(Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153577853
- GRCh38:
- ChrX:154349485
| LOC107988032, FLNA | P2545A, P2537A | Melnick-Needles syndrome, Heterotopia, periventricular, X-linked dominant, Frontometaphyseal dysplasia,
Oto-palato-digital syndrome, type II | Benign
(Jul 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153583454
- GRCh38:
- ChrX:154355086
| FLNA | | Melnick-Needles syndrome, Heterotopia, periventricular, X-linked dominant, Frontometaphyseal dysplasia,
Oto-palato-digital syndrome, type II | Likely benign
(Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153579297
- GRCh38:
- ChrX:154350929
| FLNA | Y2371C, Y2379C | Melnick-Needles syndrome, Heterotopia, periventricular, X-linked dominant, Frontometaphyseal dysplasia,
Oto-palato-digital syndrome, type II | Uncertain significance
(Oct 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153583175
- GRCh38:
- ChrX:154354807
| FLNA | | Melnick-Needles syndrome, Heterotopia, periventricular, X-linked dominant, Frontometaphyseal dysplasia,
Oto-palato-digital syndrome, type II | Benign
(Dec 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153577368
- GRCh38:
- ChrX:154349000
| LOC107988032, FLNA | R2590K, R2598K | Melnick-Needles syndrome, Heterotopia, periventricular, X-linked dominant, Frontometaphyseal dysplasia,
Oto-palato-digital syndrome, type II | Uncertain significance
(Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153585893
- GRCh38:
- ChrX:154357525
| FLNA | | Melnick-Needles syndrome, Heterotopia, periventricular, X-linked dominant, Frontometaphyseal dysplasia,
Oto-palato-digital syndrome, type II | Likely benign
(Jan 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153587835
- GRCh38:
- ChrX:154359467
| FLNA | | Melnick-Needles syndrome, Heterotopia, periventricular, X-linked dominant, Oto-palato-digital syndrome, type II,
Frontometaphyseal dysplasia | Likely benign
(Dec 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153588224
- GRCh38:
- ChrX:154359856
| FLNA | | Frontometaphyseal dysplasia, Heterotopia, periventricular, X-linked dominant, Oto-palato-digital syndrome, type II,
Melnick-Needles syndrome | Likely benign
(Oct 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153581061
- GRCh38:
- ChrX:154352693
| FLNA | | Frontometaphyseal dysplasia, Heterotopia, periventricular, X-linked dominant, Oto-palato-digital syndrome, type II,
Melnick-Needles syndrome | Likely benign
(Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153592909
- GRCh38:
- ChrX:154364541
| FLNA | D669E | Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Oto-palato-digital syndrome, type II,
Frontometaphyseal dysplasia | Uncertain significance
(Oct 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153587371
- GRCh38:
- ChrX:154359003
| FLNA | | not provided, Heterotopia, periventricular, X-linked dominant, Frontometaphyseal dysplasia,
Melnick-Needles syndrome, Oto-palato-digital syndrome, type II | Conflicting interpretations of pathogenicity
(Mar 29, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:153577281
- GRCh38:
- ChrX:154348913
| LOC107988032, FLNA | T2619R, T2627R | Melnick-Needles syndrome, Heterotopia, periventricular, X-linked dominant, Oto-palato-digital syndrome, type II,
Frontometaphyseal dysplasia | Benign
(Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153577324
- GRCh38:
- ChrX:154348956
| LOC107988032, FLNA | L2613V, L2605V | Melnick-Needles syndrome, Heterotopia, periventricular, X-linked dominant, Oto-palato-digital syndrome, type II,
Frontometaphyseal dysplasia | Likely benign
(Mar 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153583399
- GRCh38:
- ChrX:154355031
| FLNA | V1663M, V1671M | Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia, Melnick-Needles syndrome,
Heterotopia, periventricular, X-linked dominant | Uncertain significance
(Jan 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153578188
- GRCh38:
- ChrX:154349820
| FLNA | A2453T, A2461T | Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia, Melnick-Needles syndrome,
Heterotopia, periventricular, X-linked dominant | Uncertain significance
(Oct 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153582783
- GRCh38:
- ChrX:154354415
| FLNA | | Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia, Melnick-Needles syndrome,
Heterotopia, periventricular, X-linked dominant | Likely benign
(Jul 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153586936
- GRCh38:
- ChrX:154358568
| FLNA | G1492D | Heterotopia, periventricular, X-linked dominant, Frontometaphyseal dysplasia, Oto-palato-digital syndrome, type II,
Melnick-Needles syndrome | Uncertain significance
(Jul 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153577253
- GRCh38:
- ChrX:154348885
| LOC107988032, FLNA | | Heterotopia, periventricular, X-linked dominant, Frontometaphyseal dysplasia, Oto-palato-digital syndrome, type II,
Melnick-Needles syndrome | Likely benign
(Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153594575
- GRCh38:
- ChrX:154366207
| FLNA | V416L | Inborn 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 |
| - GRCh37:
- ChrX:153581410
- GRCh38:
- ChrX:154353042
| FLNA | T2054I, T2062I | Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Frontometaphyseal dysplasia,
Oto-palato-digital syndrome, type II | Likely benign
(Mar 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153594381
- GRCh38:
- ChrX:154366013
| FLNA | | Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Frontometaphyseal dysplasia,
Oto-palato-digital syndrome, type II | Likely benign
(Dec 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153581147
- GRCh38:
- ChrX:154352779
| FLNA | | Heterotopia, periventricular, X-linked dominant, Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia,
Melnick-Needles syndrome | Benign
(May 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153592614
- GRCh38:
- ChrX:154364246
| FLNA | | Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Frontometaphyseal dysplasia,
Oto-palato-digital syndrome, type II | Likely benign
(Sep 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153578159
- GRCh38:
- ChrX:154349791
| FLNA | | Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Frontometaphyseal dysplasia,
Oto-palato-digital syndrome, type II | Likely benign
(Oct 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153583175
- GRCh38:
- ChrX:154354807
| FLNA | | Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Frontometaphyseal dysplasia,
Oto-palato-digital syndrome, type II | Likely benign
(Mar 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153599520
- GRCh38:
- ChrX:154371152
| FLNA | E32K | Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia, Heterotopia, periventricular, X-linked dominant,
Melnick-Needles syndrome | Uncertain significance
(Apr 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153578177
- GRCh38:
- ChrX:154349809
| FLNA | | Heterotopia, periventricular, X-linked dominant, Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia,
Melnick-Needles syndrome | Likely benign
(Apr 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153578554
- GRCh38:
- ChrX:154350186
| FLNA | I2393N, I2385N | Heterotopia, periventricular, X-linked dominant, Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia,
Melnick-Needles syndrome | Uncertain significance
(Apr 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153592938
- GRCh38:
- ChrX:154364570
| FLNA | M660V | Heterotopia, periventricular, X-linked dominant, Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia,
Melnick-Needles syndrome | Likely benign
(Sep 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153578062
- GRCh38:
- ChrX:154349694
| FLNA | G2503S, G2495S | Heterotopia, periventricular, X-linked dominant, Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia,
Melnick-Needles syndrome | Uncertain significance
(Feb 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153590775
- GRCh38:
- ChrX:154362407
| FLNA | | Oto-palato-digital syndrome, type II, Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome,
Frontometaphyseal dysplasia | Likely benign
(Aug 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153594973
- GRCh38:
- ChrX:154366605
| FLNA | T341I | Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Frontometaphyseal dysplasia,
Oto-palato-digital syndrome, type II | Uncertain significance
(Apr 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153587725
- GRCh38:
- ChrX:154359357
| FLNA | A1398P | Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Frontometaphyseal dysplasia,
Oto-palato-digital syndrome, type II | Uncertain significance
(Feb 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153581960
- GRCh38:
- ChrX:154353592
| FLNA | Q1933R, Q1941R | Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Frontometaphyseal dysplasia,
Oto-palato-digital syndrome, type II | Uncertain significance
(Jan 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153590400
- GRCh38:
- ChrX:154362032
| FLNA | I925F | Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Frontometaphyseal dysplasia,
Oto-palato-digital syndrome, type II | Likely benign
(Aug 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153580533
- GRCh38:
- ChrX:154352165
| FLNA | | Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Frontometaphyseal dysplasia,
Oto-palato-digital syndrome, type II | Likely benign
(Dec 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153577855
- GRCh38:
- ChrX:154349487
| LOC107988032, FLNA | A2536D, A2544D | Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia, Heterotopia, periventricular, X-linked dominant,
Melnick-Needles syndrome | Uncertain significance
(Aug 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153580535
- GRCh38:
- ChrX:154352167
| FLNA | | Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia, Heterotopia, periventricular, X-linked dominant,
Melnick-Needles syndrome | Likely benign
(Feb 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153588821
- GRCh38:
- ChrX:154360453
| FLNA | C1114W | Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia, Heterotopia, periventricular, X-linked dominant,
Melnick-Needles syndrome | Uncertain significance
(Aug 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153592897
- GRCh38:
- ChrX:154364529
| FLNA | D673E | Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia, Heterotopia, periventricular, X-linked dominant,
Melnick-Needles syndrome | Uncertain significance
(Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153581815
- GRCh38:
- ChrX:154353447
| FLNA | | Heterotopia, periventricular, X-linked dominant, Frontometaphyseal dysplasia, Oto-palato-digital syndrome, type II,
Melnick-Needles syndrome | Likely benign
(Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153585977
- GRCh38:
- ChrX:154357609
| FLNA | K1590N | Heterotopia, periventricular, X-linked dominant, Frontometaphyseal dysplasia, Oto-palato-digital syndrome, type II,
Melnick-Needles syndrome | Uncertain significance
(Sep 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153592648
- GRCh38:
- ChrX:154364280
| FLNA | | Heterotopia, periventricular, X-linked dominant, Frontometaphyseal dysplasia, Oto-palato-digital syndrome, type II,
Melnick-Needles syndrome | Likely benign
(Jan 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153594410
- GRCh38:
- ChrX:154366042
| FLNA | T471A | Heterotopia, periventricular, X-linked dominant, Frontometaphyseal dysplasia, Oto-palato-digital syndrome, type II,
Melnick-Needles syndrome | Likely benign
(Sep 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153588935
- GRCh38:
- ChrX:154360567
| FLNA | | Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Frontometaphyseal dysplasia,
Oto-palato-digital syndrome, type II | Likely benign
(Apr 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153590954
- GRCh38:
- ChrX:154362586
| FLNA | | Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Frontometaphyseal dysplasia,
Oto-palato-digital syndrome, type II | Likely benign
(Sep 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153591142
- GRCh38:
- ChrX:154362774
| FLNA | G764A | Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Frontometaphyseal dysplasia,
Oto-palato-digital syndrome, type II | Benign
(Oct 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153595904
- GRCh38:
- ChrX:154367536
| FLNA | | Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Frontometaphyseal dysplasia,
Oto-palato-digital syndrome, type II | Likely benign
(May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153592913
- GRCh38:
- ChrX:154364545
| FLNA | Q668P | Oto-palato-digital syndrome, type II, Heterotopia, periventricular, X-linked dominant, Frontometaphyseal dysplasia,
Melnick-Needles syndrome | Uncertain significance
(Dec 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153590175
- GRCh38:
- ChrX:154361807
| FLNA | | Melnick-Needles syndrome, Oto-palato-digital syndrome, type II, Heterotopia, periventricular, X-linked dominant,
Frontometaphyseal dysplasia | Likely benign
(Sep 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153590831
- GRCh38:
- ChrX:154362463
| FLNA | | Melnick-Needles syndrome, Oto-palato-digital syndrome, type II, Heterotopia, periventricular, X-linked dominant,
Frontometaphyseal dysplasia | Likely benign
(Apr 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153599572
- GRCh38:
- ChrX:154371204
| FLNA | | Melnick-Needles syndrome, Oto-palato-digital syndrome, type II, Heterotopia, periventricular, X-linked dominant,
Frontometaphyseal dysplasia | Likely benign
(Jul 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153591166-153591171
- GRCh38:
- ChrX:154362798-154362803
| FLNA | | Melnick-Needles syndrome, Oto-palato-digital syndrome, type II, Heterotopia, periventricular, X-linked dominant,
Frontometaphyseal dysplasia | Likely benign
(Sep 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153591063
- GRCh38:
- ChrX:154362695
| FLNA | | Melnick-Needles syndrome, Oto-palato-digital syndrome, type II, Heterotopia, periventricular, X-linked dominant,
Frontometaphyseal dysplasia | Likely benign
(May 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153578543
- GRCh38:
- ChrX:154350175
| FLNA | N2389D, N2397D | Melnick-Needles syndrome, Oto-palato-digital syndrome, type II, Heterotopia, periventricular, X-linked dominant,
Frontometaphyseal dysplasia | Uncertain significance
(Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153593594
- GRCh38:
- ChrX:154365226
| FLNA | G534V | not provided, Melnick-Needles syndrome, Frontometaphyseal dysplasia,
Oto-palato-digital syndrome, type II, Heterotopia, periventricular, X-linked dominant | Conflicting interpretations of pathogenicity
(Jul 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:153593253
- GRCh38:
- ChrX:154364885
| FLNA | | Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia, Heterotopia, periventricular, X-linked dominant,
Melnick-Needles syndrome | Likely benign
(Dec 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153586818
- GRCh38:
- ChrX:154358450
| FLNA | | Heterotopia, periventricular, X-linked dominant, Frontometaphyseal dysplasia, Oto-palato-digital syndrome, type II,
Melnick-Needles syndrome | Likely benign
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153582526
- GRCh38:
- ChrX:154354158
| FLNA | H1842Q, H1850Q | Heterotopia, periventricular, X-linked dominant, Frontometaphyseal dysplasia, Oto-palato-digital syndrome, type II,
Melnick-Needles syndrome | Uncertain significance
(Oct 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153594576
- GRCh38:
- ChrX:154366208
| FLNA | | Heterotopia, periventricular, X-linked dominant, Frontometaphyseal dysplasia, Oto-palato-digital syndrome, type II,
Melnick-Needles syndrome | Likely benign
(May 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153594464
- GRCh38:
- ChrX:154366096
| FLNA | V453I | Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia, Heterotopia, periventricular, X-linked dominant,
Melnick-Needles syndrome | Uncertain significance
(Aug 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153594425
- GRCh38:
- ChrX:154366057
| FLNA | P466S | Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia, Heterotopia, periventricular, X-linked dominant,
Melnick-Needles syndrome | Uncertain significance
(Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153581421
- GRCh38:
- ChrX:154353053
| FLNA | H2058Q, H2050Q | Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia, Heterotopia, periventricular, X-linked dominant,
Melnick-Needles syndrome | Uncertain significance
(Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153593538
- GRCh38:
- ChrX:154365170
| FLNA | T553A | Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia, Heterotopia, periventricular, X-linked dominant,
Melnick-Needles syndrome | Uncertain significance
(Jul 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153577870
- GRCh38:
- ChrX:154349502
| LOC107988032, FLNA | T2531I, T2539I | Melnick-Needles syndrome, Oto-palato-digital syndrome, type II, Heterotopia, periventricular, X-linked dominant,
Frontometaphyseal dysplasia | Uncertain significance
(Dec 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153593297
- GRCh38:
- ChrX:154364929
| FLNA | C574R | Melnick-Needles syndrome, Oto-palato-digital syndrome, type II, Heterotopia, periventricular, X-linked dominant,
Frontometaphyseal dysplasia | Benign
(Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153587842
- GRCh38:
- ChrX:154359474
| FLNA | | Melnick-Needles syndrome, Oto-palato-digital syndrome, type II, Heterotopia, periventricular, X-linked dominant,
Frontometaphyseal dysplasia | Likely benign
(Jun 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153583322
- GRCh38:
- ChrX:154354954
| FLNA | | Melnick-Needles syndrome, Oto-palato-digital syndrome, type II, Heterotopia, periventricular, X-linked dominant,
Frontometaphyseal dysplasia | Likely benign
(Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153588338
- GRCh38:
- ChrX:154359970
| FLNA | | Melnick-Needles syndrome, Oto-palato-digital syndrome, type II, Heterotopia, periventricular, X-linked dominant,
Frontometaphyseal dysplasia | Likely benign
(Mar 8, 2022) | criteria provided, single submitter |