| - GRCh37:
- Chr10:63845563
- GRCh38:
- Chr10:62085804
| ARID5B | N191fs, N434fs | Blue sclerae, Delayed speech and language development, Prominent forehead,
Retrognathia, Global developmental delay, Fetal growth restriction,
Abnormality of mouth size, Pes valgus | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr2:96755045-98021592
| CIAO1, CNNM3, CNNM4, DUSP2, FAHD2B, ANKRD36, ANKRD39, ARID5A, ASTL, ADRA2B, ANKRD23, FAM178B, FER1L5, ITPRIPL1, KANSL3, LMAN2L, NCAPH, SEMA4C, SNRNP200, STARD7, TMEM127 | | Cleft lip, Fetal growth restriction | Pathogenic
(Mar 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:388344-3872380
| HGFAC, HTT, ADD1, ADRA2C, ATP5ME, DGKQ, DOK7, C4orf48, CPLX1, CRIPAK, CTBP1, FAM193A, FAM53A, FGFR3, FGFRL1, GAK, GRK4, HAUS3, IDUA, LETM1, LRPAP1, MAEA, MFSD10, MSANTD1, MXD4, MYL5, NAT8L, NELFA, NKX1-1, NOP14, NSD2, PCGF3, PDE6B, PIGG, POLN, RGS12, RNF212, RNF4, SH3BP2, SLBP, SLC26A1, SLC49A3, SPON2, TACC3, TMEM129, TMEM175, TNIP2, UVSSA, ZFYVE28, ZNF721 | | Generalized hypotonia, Fetal growth restriction, Renal hypoplasia
| Pathogenic
(Mar 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:73914-4356052
| CHL1, CNTN4, CNTN6, CRBN, IL5RA, LRRN1, SETMAR, TRNT1 | | Fetal growth restriction | Likely pathogenic
(Oct 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:172050936-172181677
| DNM3, DNM3OS, MIR199A2, MIR214, MIR3120 | | Fetal growth restriction | Likely pathogenic
(Oct 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr12:49226274
- GRCh38:
- Chr12:48832491
| DDX23 | I629S | Motor delay, Abnormal facial shape, Failure to thrive,
Fetal growth restriction, not provided | Conflicting interpretations of pathogenicity
(Jul 20, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:25781191
- GRCh38:
- Chr3:25739700
| NGLY1 | C253F, C211F | Fetal growth restriction, Global developmental delay, Lactic acidosis
| Uncertain significance
(Aug 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr1:40424346-40424348
- GRCh38:
- Chr1:39958674-39958676
| MFSD2A | V82del | Cryptorchidism, Hyperammonemia, Delayed gross motor development,
Functional abnormality of male internal genitalia, Febrile seizure (within the age range of 3 months to 6 years), Microcephaly,
Fetal growth restriction, Intellectual disability | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:31602803
- GRCh38:
- Chr2:31379937
| XDH | P391L | Protein-losing enteropathy, Eczema, Short stature,
Immunodeficiency, Thrombocytopenia, Hydronephrosis,
Urachal cyst, Cataract, Neutropenia,
Fetal growth restriction | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr2:24807000-25700000
| CENPO, PTRHD1, DNAJC27, ADCY3, DTNB, DNMT3A, POMC, NCOA1, EFR3B | | Fetal growth restriction, Narrow nasal bridge, Mandibular prognathia,
Delayed speech and language development, Seizure | Uncertain significance
(May 1, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr9:139362970-139607528
| C9orf163, SEC16A, AGPAT2, EGFL7, DIPK1B, NOTCH1, MIR126 | | Fetal growth restriction, Narrow nasal bridge, Mandibular prognathia,
Delayed speech and language development, Seizure | Uncertain significance
(May 1, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr12:13722907
- GRCh38:
- Chr12:13569973
| GRIN2B | M739R | Craniosynostosis syndrome, Atypical behavior, Self-injurious behavior,
Scoliosis, Seizure, Microcephaly,
Intellectual disability, severe, Abnormal facial shape, Fetal growth restriction,
Difficulty walking, Absent speech ...see more | Likely pathogenic
(Jan 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr5:36985092-36985093
- GRCh38:
- Chr5:36984990-36984991
| NIPBL | | Cornelia de Lange syndrome 1, Right ventricular hypertrophy, Long philtrum,
Penile hypospadias, Single umbilical artery, Fetal growth restriction,
Microretrognathia, Pulmonary hypoplasia, Cryptorchidism,
Congenital diaphragmatic hernia | Likely pathogenic
(Jan 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr11:103126970
- GRCh38:
- Chr11:103256241
| DYNC2H1 | | Narrow chest, Fetal growth restriction, Bowing of the long bones
| Pathogenic
(Jul 2, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr14:88434737
- GRCh38:
- Chr14:87968393
| GALC | G284S, G258S, G261S | not provided, Galactosylceramide beta-galactosidase deficiency, EEG abnormality,
Amblyopia, EMG abnormality, Dysmyelinating leukodystrophy,
Nystagmus, Hemiparesis, EMG: axonal abnormality,
Developmental regression, Fetal growth restrictionSmall for gestational age,
Neonatal hypoglycemia, Loss of ambulation, Seizure,
Status epilepticus, Breech presentation, Leukodystrophy,
Global developmental delay, Strabismus, Progressive visual loss,
...see more | Pathogenic/Likely pathogenic
(Sep 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:88454867
- GRCh38:
- Chr14:87988523
| GALC | A66T, A40T | Galactosylceramide beta-galactosidase deficiency, EEG abnormality, Amblyopia,
EMG abnormality, Dysmyelinating leukodystrophy, Nystagmus,
Hemiparesis, EMG: axonal abnormality, Developmental regression,
Fetal growth restriction, Small for gestational ageNeonatal hypoglycemia,
Loss of ambulation, Seizure, Status epilepticus,
Breech presentation, Leukodystrophy, Global developmental delay,
Strabismus, Progressive visual loss, ...see more | Likely pathogenic
(Jan 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:31562482
- GRCh38:
- Chr2:31339616
| XDH | P1216H | Xanthinuria type II, Short stature, Fetal growth restriction,
Hydronephrosis, Cataract, Eczema,
Immunodeficiency, Protein-losing enteropathy, Urachal cyst,
Neutropenia, ThrombocytopeniaHereditary xanthinuria type 1,
...see more | Uncertain significance
(Aug 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:71715060
- GRCh38:
- ChrX:72495210
| HDAC8 | R166*, R75* | Inborn genetic diseases, not provided, Cornelia de Lange syndrome 1,
Fetal growth restriction, Abnormal facial shape, Sparse scalp hair,
Delayed speech and language development, Microcephaly, Global developmental delay
| Pathogenic
(Jul 21, 2023) | criteria provided, multiple submitters, no conflicts |
| | | | Microcephaly, Fetal growth restriction, Abnormal facial shape,
Failure to thrive | Likely pathogenic
(Aug 20, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr17:46024036
- GRCh38:
- Chr17:47946670
| PNPO | R225H | not provided, Neuronopathy, distal hereditary motor, type 5A, Pyridoxal phosphate-responsive seizures
| Pathogenic
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:103091449
- GRCh38:
- Chr11:103220720
| DYNC2H1 | D3015G | DYNC2H1-Related Disorders, Short rib-polydactyly syndrome, Jeune thoracic dystrophy,
not provided, Asphyxiating thoracic dystrophy 3, Narrow chest,
Bowing of the long bones, Fetal growth restriction | Conflicting interpretations of pathogenicity
(Sep 19, 2022) | criteria provided, conflicting interpretations |