| - GRCh37:
- Chr15:66170198
- GRCh38:
- Chr15:65877860
| RAB11A | H112R | Intellectual disability, mild, Precocious puberty in females, Delayed fine motor development,
EEG abnormality, Coarse facial features, Primary microcephaly,
Delayed speech and language development | Likely pathogenic
(Jan 27, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr10:67789692-67927125
| CTNNA3 | | Intellectual disability, mild | Uncertain significance
(Jun 19, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr18:53243454-53287927
| TCF4 | | Intellectual disability, mild | Pathogenic
(Dec 2, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr6:15496961
- GRCh38:
- Chr6:15496730
| JARID2 | T331fs, T503fs | Intellectual disability, mild | Pathogenic
(Dec 2, 2021) | criteria provided, single submitter |
| | NRXN1 | | Autism, Hyperopia, high, Mild microcephaly,
Intellectual disability, mild, Moderate global developmental delay | Pathogenic
(Sep 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:93673670-93673671
- GRCh38:
- Chr14:93207325-93207326
| UBR7 | S19fs | Intellectual disability, mild | Pathogenic
(Aug 11, 2020) | no assertion criteria provided |
| - GRCh37:
- ChrX:48759756
- GRCh38:
- ChrX:48902479
| PQBP1 | R172H, R180H, R80H | not provided, Inborn genetic diseases, Intellectual disability, mild
| Conflicting interpretations of pathogenicity
(Oct 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:87966803-87966806
- GRCh38:
- Chr6:87257085-87257088
| ZNF292 | V1014fs, V1154fs | Short stature, Microcephaly, Intellectual disability, mild
| Likely pathogenic
(Nov 16, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr5:36976061
- GRCh38:
- Chr5:36975959
| NIPBL | P351L | Intellectual disability, mild, Seizure, Plagiocephaly,
Horseshoe kidney, Vesicoureteral reflux | Likely pathogenic
(Jan 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:73843208
- GRCh38:
- Chr6:73133485
| KCNQ5 | R429G, R438G, R448G, R457G | not provided | Benign
(Oct 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155309133
- GRCh38:
- Chr1:155339342
| ASH1L | K2829N, K2834N | Intellectual disability, mild, Delayed speech and language development, Seizure
| Uncertain significance
(Dec 3, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr5:113822787
- GRCh38:
- Chr5:114487090
| LOC101927078, KCNN2 | L644P, L84P, L710P | Dyskinesia, Intellectual disability, mild, Global developmental delay,
Cerebellar ataxia | Pathogenic
(Jul 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr5:113798828
- GRCh38:
- Chr5:114463131
| KCNN2, LOC101927078 | G640S, G14S, G574S | Autistic behavior, Intellectual disability, mild, Seizure,
Global developmental delay, not provided | Pathogenic/Likely pathogenic
(Sep 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:113740349-113740352
- GRCh38:
- Chr5:114404652-114404655
| KCNN2 | | Intellectual disability, mild, Global developmental delay, Cerebellar ataxia
| Pathogenic
(Jul 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:49070635-49070636
- GRCh38:
- Chr3:49033202-49033203
| QRICH1 | E605fs | Ververi-Brady syndrome, Intellectual disability, mild | Pathogenic
(Dec 21, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:46931582
- GRCh38:
- Chr16:46897670
| GPT2 | E89G | Frequent falls, Delayed speech and language development, Intellectual disability, mild,
Aggressive behavior | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr1:10333430-103467088
| ANGPTL7, C1orf127, C1orf141, CDKN2C, CSF3R, DNAI4, EPHA8, FOXD3, GPX7, GRHL3, GRIK3, IGSF21, IL12RB2, LAPTM5, MAD2L2, MUTYH, MYCBP, PADI2, POU3F1, PPCS, PPIE, RAP1GAP, RWDD3, SNHG3, SNIP1, SNORA73A, TAS1R2, TCEA3, TCEANC2, TRAPPC3, TRE-TTC3-1, TRG-CCC1-1, XKR8, ZRANB2-DT, ZYG11B, ZZZ3, ZSCAN20, ZBTB8A, ZBTB8B, ZBTB8OS, ZC3H12A, ZCCHC17, ZDHHC18, YBX1, YIPF1, YRDC, YTHDF2, ZSWIM5, TRIM62, TRIM63, TRIT1, TRMT13, TRNAU1AP, TRNP1, TRQ-CTG14-1, TTC22, TTC39A, TTC4, TTLL7, TUT4, TXLNA, TEX38, TEX46, TXNDC12, TYW3, UBE2U, TSPAN1, TSSK3, ZYG11A, YARS1, ZBTB17, ZBTB40, TEKT2, TINAGL1, TLCD4, TM2D1, SNX7, SPATA1, SRSF11, SSX2IP, SPATA21, SPATA6, TENT5B, TESK2, TFAP2E, TGFBR3, THEMIS2, THRAP3, TIE1, TMCO2, S100PBP, S1PR1, SAMD13, SESN2, SF3A3, SFN, SFPQ, SGIP1, SH2D5, SH3BGRL3, SH3D21, SH3GLB1, SASS6, SCMH1, SCP2, SDC3, TMCO4, TMED5, SNORD21, SNRNP40, SRSF4, SSBP3, ST3GAL3, RAVER2, RBBP4, RHCE, RHD, RIMKLA, RIMS3, PRAMEF17, PRAMEF1, PRAMEF13, PRAMEF15, PRDM2, RLF, RBMXL1, RNF11, RNF186, RCAN3, RCC1, PADI3, PADI4, PADI6, PAFAH2, PATJ, PAX7, PEX14, PHACTR4, PHC2, PIGK, PIGV, PALMD, PAQR7, PARS2, PGD, PGM1, RCC2, RHBDL2, PPIH, PPP1R8, PPT1, PRAMEF10, PRAMEF11, MYCL, MYOM3, NCDN, NDUFS5, NECAP2, NCMAP, NDC1, MIGA1, MIIP, MANEAL, MAP3K6, MAP7D1, MCOLN3, MDS2, NEGR1, NEGR1-IT1, NEXN, MYSM1, NASP, NBL1, NBPF1, NBPF3, PRAMEF12, LDLRAD1, LDLRAD2, LDLRAP1, LEPR, LHX8, LIN28A, LINC00853, LINC01783, LMO4, LEPROT, LOC101927434, MAGOH, MAN1C1, MARCKSL1, MASP2, MAST2, MATN1, MCOLN2, MEAF6, MECR, MED18, IL22RA1, IL23R, INPP5B, INSL5, KCNQ4, KDF1, IPP, IQCC, KANK4, KAZN, ITGB3BP, IPO13, JAK1, JUN, MED8, MFAP2, LCK, GTF2B, GUCA2A, GUCA2B, HCRTR1, HDAC1, HECTD3, HEYL, HFM1, HPDL, HS2ST1, HSPB7, HSPG2, FUBP1, GBP7, GCLM, FUCA1, FYB2, FAAH, FABP3, EPHX4, EPS15, EVA1B, EVI5, FAF1, GADD45A, GBP4, GBP5, GBP6, GALE, GBP1, DNAJB4, DNAJC16, DNTTIP2, DOCK7, DPH2, DNALI1, DPH5, DPYD, DR1, DRAXIN, DYNLT4, DYNLT5, DNAJC6, DNAJC8, DNASE2B, GBP2, GBP3, EPHB2, FAM110D, FAM131C, ERI3, CSMD2, CTBS, CTH, CTPS1, CYB5RL, CYP2J2, CYP4A11, CYP4A22, CYP4B1, CITED4, CLCA1, CLCA2, CELA3B, CENPS, CZIB, DAB1, DBT, DCDC2B, CTRC, CYP4X1, CYP4Z1, ERICH3, ERMAP, C1orf167, C1orf185, C1orf210, C1orf216, C1orf52, C1orf87, C1orf50, C1orf94, C8A, CELA2A, CELA2B, CELA3A, CENPS-CORT, CEP85, CFAP107, CFAP144, ANKRD13C, ANKRD13C-DT, ARHGAP29, ARHGEF10L, ARHGEF19, ATP13A2, AADACL3, AADACL4, ABCA4, ABCD3, ACADM, ATP5IF1, AUNIP, AZIN2, ATP6V0B, ATPAF1, CFAP57, CIMAP2, C1orf146, A3GALT2, ACOT11, ACTL8, ADGRB2, ADGRL2, ADGRL4, ADPRS, AGBL4, AGL, AGMAT, AGO1, AGO3, AGO4, AGTRAP, AHDC1, AIRIM, AK2, AK4, AK5, AKIRIN1, AKR1A1, AKR7A2, AKR7A3, AKR7L, ALDH4A1, ALG14, ALG6, ALPL, ANGPTL3, ARID1A, ARMH1, ARTN, ASAP3, ASB17, ATG4C, B4GALT2, BARHL2, BCAR3, BCL10, BEND5, BEST4, BMP8A, BMP8B, BRDT, BSDC1, BSND, BTBD19, BTBD8, BTF3L4, C1QA, C1QB, C1QC, C1orf122, C8B, CACHD1, CAMK2N1, CAP1, CAPZB, CASP9, CASZ1, CATSPER4, CC2D1B, CCDC17, CCDC18, CCDC24, CCDC28B, CCDC30, CCN1, CD164L2, CD52, CDA, CDC14A, CDC20, CDC42, CDC7, CDCA8, CDCP2, CLCA4, CLCN6, CLCNKA, CLCNKB, CLDN19, CLIC4, CLSPN, CMPK1, CNKSR1, CNN3, CNR2, COA7, COL11A1, COL16A1, COL24A1, COL8A2, COL9A2, CORT, CPLANE2, CPT2, CROCC, CRYBG2, CRYZ, DDAH1, DDI2, DDOST, DEPDC1, DFFA, DHCR24, DHDDS, DHRS3, DIO1, DIPK1A, DIRAS3, DISP3, DLGAP3, DMAP1, DMBX1, DMRTA2, DMRTB1, DNAI3, E2F2, EBNA1BP2, ECE1, ECHDC2, EDN2, EFCAB14, EFCAB7, EFHD2, EIF2B3, EIF3I, EIF4G3, ELAVL4, ELOA, ELOVL1, EMC1, EPB41, EPHA10, EPHA2, EXO5, EXOSC10, EXTL1, EXTL2, EYA3, F3, FAM151A, FAM167B, FAM229A, FAM43B, FAM76A, FBLIM1, FBXO2, FBXO42, FBXO44, FBXO6, FCN3, FGGY, FGR, FHAD1, FHL3, FNBP1L, FNDC5, FOXD2, FOXE3, FOXJ3, FOXO6, FPGT, FPGT-TNNI3K, FRRS1, GFI1, GIPC2, GJA4, GJA9, GJB3, GJB4, GJB5, GLIS1, GLMN, GMEB1, GNG12, GNG5, GNL2, GPATCH3, GPBP1L1, GPN2, GPR3, GPR88, HIVEP3, HMGB4, HMGCL, HMGN2, HNRNPCL1, HNRNPCL2, HNRNPR, HOOK1, HP1BP3, HPCA, HPCAL4, ID3, HTR1D, HTR6, HYI, IFFO2, IFI44, IFI44L, IFI6, IFNLR1, IFT25, KDM1A, KDM4A, KHDRBS1, KIAA0319L, KIAA0754, KIAA1522, KIAA2013, KIF17, KIF1B, KIF2C, KLF17, KLHDC7A, KNCN, KPNA6, KTI12, KYAT3, L1TD1, LACTBL1, LPAR3, LRP8, LRRC38, LRRC39, LRRC40, LRRC41, LRRC42, LRRC7, LRRC8B, LRRC8C, LRRC8D, LRRIQ3, LSM10, LURAP1, LUZP1, LYPLA2, MACF1, MACO1, MFN2, MFSD14A, MFSD2A, MICOS10, MICOS10-NBL1, MIER1, MIR101-1, MIR137, MIR30C1, MKNK1, MMACHC, MOB3C, MPL, MROH7, MRPL37, MRPS15, MRTO4, MSH4, MTF1, MTF2, MTFR1L, MTHFR, MTOR, MUL1, NFIA, NFYC, NIPAL3, NKAIN1, NPPA, NPPB, NR0B2, NRDC, NSUN4, NT5C1A, NUDC, ODF2L, OLFM3, OMA1, OPRD1, ORC1, OSBPL9, OSCP1, OTUD3, OXCT2, P3H1, PABPC4, PABPC4-AS1, PADI1, PCSK9, PDE4B, PDIK1L, PDPN, PDZK1IP1, PEF1, PIK3R3, PINK1, PITHD1, PKN2, PLA2G2A, PLA2G2C, PLA2G2D, PLA2G2E, PLA2G2F, PLA2G5, PLEKHM2, PLK3, PLOD1, PLPP3, PLPPR4, PNRC2, PODN, POMGNT1, PRAMEF18, PRAMEF19, PRAMEF2, PRAMEF20, PRAMEF22, PRAMEF4, PRAMEF5, PRAMEF6, PRAMEF7, PRAMEF8, PRAMEF9, PRDX1, PRKAA2, PRKACB, PRPF38A, PSMB2, PTAFR, PTBP2, PTCH2, PTGER3, PTGFR, PTP4A2, PTPRF, PTPRU, PUM1, RAB3B, RAB42, RABGGTB, RAD54L, RNF19B, RNF220, RNU1-4, ROR1, RPA2, RPAP2, RPE65, RPF1, RPL11, RPL5, RPS6KA1, RPS8, RRAGC, RSC1A1, RSPO1, RSRP1, RTCA, RUNX3, SDHB, SELENOF, SELENON, SERBP1, SERINC2, SHISAL2A, SLC1A7, SLC25A34, SLC2A1, SLC30A2, SLC30A7, SLC35A3, SLC35D1, SLC44A3, SLC44A5, SLC5A9, SLC66A1, SLC6A9, SLC9A1, SLFNL1, SMAP2, SMIM12, SMPDL3B, SPEN, SPOCD1, SRARP, SRM, SRRM1, SRSF10, ST6GALNAC3, ST6GALNAC5, STIL, STK40, STMN1, STPG1, STX12, SVBP, SYDE2, SYF2, SYNC, SYTL1, SZRD1, SZT2, TACSTD2, TAF12, TAL1, TARDBP, TMEM125, TMEM200B, TMEM222, TMEM234, TMEM35B, TMEM39B, TMEM50A, TMEM51, TMEM53, TMEM54, TMEM59, TMEM61, TMEM69, TMEM82, TNFRSF1B, TNFRSF8, TNNI3K, TOE1, TRABD2B, UBIAD1, UBR4, UBXN10, UBXN11, UQCRH, UROD, USP1, USP24, USP33, USP48, UTP11, VCAM1, VPS13D, VWA5B1, WASF2, WDTC1, WLS, WNT4, ZFP69, ZFP69B, ZFYVE9, ZMPSTE24, ZMYM1, ZMYM4, ZMYM6, ZMYND12, ZNF326, ZNF362, ZNF436, ZNF593, ZNF644, ZNF683, ZNF684, ZNF691, ZNHIT6, ZRANB2 | | Intellectual disability, mild, Global developmental delay | Uncertain significance
(Apr 4, 2019) | no assertion criteria provided |
|
| | | Intellectual disability, mild | Uncertain significance
(Feb 19, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr22:42609501-42609502
- GRCh38:
- Chr22:42213495-42213496
| TCF20 | V604fs | not provided, Autism, Intellectual disability, mild
| Pathogenic
(Jun 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:42608718
- GRCh38:
- Chr22:42212712
| TCF20 | S865* | Myoclonus, Autism, Intellectual disability, mild
| Pathogenic
(Nov 6, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:38240318-38435497
| BTBD9 | | Intellectual disability, mild | Uncertain significance
(Sep 27, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7124585-7400253
| ACADVL, ACAP1, CHRNB1, CLDN7, CTDNEP1, DVL2, EIF5A, ELP5, FGF11, GABARAP, GPS2, KCTD11, NEURL4, NLGN2, PHF23, PLSCR3, POLR2A, SLC2A4, SLC35G6, SPEM1, SPEM2, TMEM102, TMEM256, TMEM95, TNK1, YBX2, ZBTB4 | | Bilateral conductive hearing impairment, Isolated Pierre-Robin syndrome, Abnormal esophagus physiology,
Intellectual disability, mild | Likely pathogenic
(Sep 26, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr2:172344870-173038935
| SLC25A12, DLX1, DYNC1I2, HAT1, METAP1D, DLX2, CYBRD1 | | Isolated Pierre-Robin syndrome, Abnormal esophagus physiology, Intellectual disability, mild,
Bilateral conductive hearing impairment | Uncertain significance
(May 1, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr16:4264335-4387622
- GRCh38:
- Chr16:4214334-4337621
| GLIS2, GLIS2-AS1, LINC01569, LOC125146387, LOC125146388, LOC130058361, LOC130058362, LOC130058363, LOC130058364, LOC130058365, SRL, TFAP4 | | Low-set ears, Prominent nasal bridge, Underdeveloped nasal alae,
Intellectual disability, mild, Secondary microcephaly, Atypical behavior
| Uncertain significance
(May 1, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr6:118823423-118880554
| CEP85L, PLN | | Ebstein anomaly, Intellectual disability, mild, Decreased response to growth hormone stimulation test
| Uncertain significance
(May 1, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr6:21594963
- GRCh38:
- Chr6:21594732
| SOX4 | F66L | Intellectual disability, mild | Likely pathogenic
(Feb 20, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr8:109990022-110168343
| TRHR | | Cognitive impairment, Brachycephaly, Motor delay,
Abnormality of the eye, Global developmental delay, Intellectual disability, mild,
Generalized hypotonia, Neonatal hypotonia, Delayed speech and language development
| Uncertain significance
(Jan 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr8:194617-6816918
| AGPAT5, ANGPT2, ARHGEF10, CLN8, CSMD1, DEFA4, DEFA6, DEFB1, DLGAP2, ERICH1, FBXO25, KBTBD11, MCPH1, MYOM2, TDRP, XKR5, ZNF596 | | Intellectual disability, mild, Autism, Delayed fine motor development,
Narrow forehead, Wide nasal bridge, Delayed speech and language development,
Micrognathia, Low-set ears | Pathogenic
(Jan 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr8:12580104-25947329
| ADAM28, ADAM7, ADAMDEC1, ASAH1, ASAH1-AS1, ATP6V1B2, BIN3, BMP1, C8orf48, C8orf58, CCAR2, CDCA2, CHMP7, CNOT7, CSGALNACT1, DLC1, DMTN, DOCK5, DOK2, EBF2, EGR3, ENTPD4, FGF17, FGF20, FGL1, FHIP2B, GFRA2, GNRH1, HR, INTS10, KCTD9, LGI3, LONRF1, LOXL2, LPL, LZTS1, MICU3, MIR320A, MSR1, MTMR7, MTUS1, NAT1, NAT2, NEFL, NEFM, NKX2-6, NKX3-1, NPM2, NUDT18, PCM1, PDGFRL, PDLIM2, PEBP4, PHYHIP, PIWIL2, POLR3D, PPP3CC, PSD3, R3HCC1, REEP4, RHOBTB2, SFTPC, SGCZ, SH2D4A, SLC18A1, SLC25A37, SLC39A14, SLC7A2, SORBS3, STC1, TNFRSF10A, TNFRSF10B, TNFRSF10C, TNFRSF10D, TRMT9B, TUSC3, VPS37A, XPO7, ZDHHC2 | | Intellectual disability, mild, Autism, Delayed fine motor development,
Narrow forehead, Wide nasal bridge, Delayed speech and language development,
Micrognathia, Low-set ears | Pathogenic
(Jan 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr7:72772522-74133319
| CLDN3, CLDN4, CLIP2, DNAJC30, ABHD11, ABHD11-AS1, BAZ1B, BCL7B, BUD23, EIF4H, ELN, FKBP6, FZD9, GTF2I, GTF2IRD1, LAT2, LIMK1, METTL27, MIR590, MLXIPL, RFC2, STX1A, TBL2, TMEM270, VPS37D | | Decreased body weight, Broad forehead, Delayed speech and language development,
Narrow nose, Short nose, Wide mouth,
Short stature, Thick vermilion border, Long philtrum,
Microcephaly, Upturned corners of mouthDelayed fine motor development,
Delayed gross motor development, Periorbital fullness, Intellectual disability, mild,
...see more | Pathogenic
(Jan 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr22:21081260-21431174
| LZTR1, P2RX6, PI4KA, SERPIND1, THAP7, SLC7A4, SNAP29, AIFM3, CRKL | | Cognitive impairment, Brachycephaly, Motor delay,
Abnormality of the eye, Global developmental delay, Intellectual disability, mild,
Generalized hypotonia, Neonatal hypotonia, Delayed speech and language development
| Uncertain significance
(Jan 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr22:18894835-21505417
| DGCR8, ESS2, FAM230A, GGTLC3, MED15, MRPL40, P2RX6, PI4KA, PRODH, GNB1L, GP1BB, RANBP1, RIMBP3, GSC2, HIRA, KLHL22, LZTR1, AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6, DGCR6L, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 | | Leukopenia, Normocytic anemia, Pes planus,
Abnormality of the ear, Generalized hypotonia, High palate,
Clinodactyly, Delayed speech and language development, Triangular face,
Failure to thrive, HypotelorismAttention deficit hyperactivity disorder,
Intellectual disability, mild, Hypernasal speech, ...see more | Pathogenic
(Jan 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr16:29656684-30197341
| MVP, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, SEZ6L2, SPN, PAGR1, ZG16, PPP4C, PRRT2, QPRT, ALDOA, ASPHD1, C16orf54, C16orf92, CDIPT, CORO1A, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, MAPK3, MAZ | | Cognitive impairment, Brachycephaly, Motor delay,
Abnormality of the eye, Global developmental delay, Intellectual disability, mild,
Generalized hypotonia, Neonatal hypotonia, Delayed speech and language development
| Likely pathogenic
(Jan 1, 2017) | criteria provided, single submitter |
| | | | Few cafe-au-lait spots, Intellectual disability, mild, Facial asymmetry,
Severe global developmental delay, Abducens nerve disorder, Delayed speech and language development,
Short attention span, Motor delay, Abnormal emotion
| Uncertain significance
(Aug 20, 2016) | criteria provided, single submitter |
| | | | High myopia, Unilateral ptosis, Delayed speech and language development,
Frequent falls, Motor delay, Short stature,
Upslanted palpebral fissure, Camptodactyly of finger, Interictal epileptiform activity,
Obesity, ClumsinessDevelopmental regression,
Intellectual disability, mild, Bilateral tonic-clonic seizure, Generalized myoclonic seizure,
Thin upper lip vermilion, ...see more | Uncertain significance
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Narrow nasal base, Mild global developmental delay, Eczema,
Macrotia, Arachnodactyly, Autistic behavior,
High forehead, Hemangioma, Sandal gap,
Intellectual disability, mild | Uncertain significance
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Intellectual disability, mild, Joint hypermobility, Psychotic episodes,
Epicanthus, Mild global developmental delay, Talipes equinovarus,
Abnormal emotion | Pathogenic
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Eczema, Delayed speech and language development, Intellectual disability, mild,
Global developmental delay | Pathogenic
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Intellectual disability, mild, Hypotonia, Autistic behavior
| Uncertain significance
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Delayed speech and language development, Motor delay, Enuresis,
Cleft upper lip, Mild global developmental delay, Heart murmur,
Intellectual disability, mild, Anxiety, Abnormal skull morphology,
Facial asymmetry | Pathogenic
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Coloboma of optic nerve, Partial albinism, Hyperconvex toenail,
Bulbous tips of toes, Conductive hearing impairment, Intellectual disability, mild,
Joint laxity, Abnormality of thyroid physiology, Unsteady gait,
Reduced visual acuity, Ventricular septal defectLower limb asymmetry,
White forelock, Hyperpigmentation of the skin, Bruising susceptibility,
Hypopigmented skin patches, ...see more | Uncertain significance
(Aug 20, 2016) | criteria provided, single submitter |
|
| MED13L | | Hypertelorism, Equinovarus deformity, Strabismus,
Bulbous nose, Flat occiput, Wide nasal bridge,
Metatarsus adductus, Camptodactyly, Developmental delay,
Intellectual disability, mild, Isolated Pierre-Robin syndromeSmooth philtrum,
Scoliosis, Hirsutism, ...see more | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr7:98782640
- GRCh38:
- Chr7:99185017
| KPNA7 | L349P | Intellectual disability, mild | Uncertain significance
(Oct 7, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr7:98800824
- GRCh38:
- Chr7:99203201
| KPNA7 | R36* | not provided, Intellectual disability, mild | Conflicting interpretations of pathogenicity
(Aug 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr14:73152115-77698582
| RBM25, LIN52, ACOT4, SYNDIG1L, PSEN1, JDP2, ZC2HC1C, VSX2, NPC2, ZNF410, ESRRB, BATF, NEK9, PGF, ENTPD5, VRTN, HEATR4, ANGEL1, ERG28, ACYP1, AREL1, ZFYVE1, DPF3, ACOT2, PAPLN, PROX2, ACOT1, TMED10, DLST, FLVCR2, PTGR2, CIPC, FOS, ALDH6A1, MLH3, FCF1, LTBP2, RPS6KL1, IRF2BPL, TMEM63C, ACOT6, TTLL5, DNAL1, RIOX1, GPATCH2L, ABCD4, VASH1, ZDHHC22, PNMA1, COQ6, BBOF1, LRRC74A, ISCA2, MIDEAS, YLPM1, TGFB3, NUMB, FAM161B, IFT43, DCAF4, EIF2B2 | | Intellectual disability, mild, Ventricular septal defect, Multiple skeletal anomalies,
Aplasia/Hypoplasia of the thumb | Likely pathogenic
(Oct 1, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr2:166903480
- GRCh38:
- Chr2:166046970
| SCN1A | R393C | Early infantile epileptic encephalopathy with suppression bursts, Severe myoclonic epilepsy in infancy, not provided,
Migraine, familial hemiplegic, 3, Severe myoclonic epilepsy in infancy, Developmental and epileptic encephalopathy 6B,
Generalized epilepsy with febrile seizures plus, type 2, Intellectual disability, mild, Seizure
| Pathogenic
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:112926873
- GRCh38:
- Chr12:112489069
| PTPN11 | R498L, R502L, R497L | Noonan syndrome and Noonan-related syndrome, Noonan syndrome with multiple lentigines, Noonan syndrome,
not provided, RASopathy, LEOPARD syndrome 1,
Noonan syndrome 1, Intellectual disability, mild, Cafe-au-lait spot,
Specific learning disability, Abnormal facial shapeScoliosis,
...see more | Pathogenic
(Feb 22, 2023) | criteria provided, multiple submitters, no conflicts |