| - GRCh37:
- Chr19:6826704
- GRCh38:
- Chr19:6826693
| VAV1 | D271fs, D303fs | Anxiety, Attention deficit hyperactivity disorder, Hearing impairment,
Pes planus, Tremor, Precocious puberty,
Autism, Expressive language delay, Hyperactivity,
Macrocephaly, Autistic behavior ...see more | Uncertain significance
(Feb 8, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr12:4920574
- GRCh38:
- Chr12:4811408
| KCNA6 | V456D | Focal-onset seizure, Generalized-onset seizure, Pes planus,
Cerebellar ataxia, Moderate global developmental delay, Hypermetropia,
Inversion of nipple, Epicanthus, Macrocephaly,
Short philtrum, Atypical behavior ...see more | Likely pathogenic
(Jan 31, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:144468561
- GRCh38:
- Chr4:143547408
| SMARCA5 | E893K | Pes planus, Delayed CNS myelination, Global developmental delay,
Hypotonia | Pathogenic
(Jan 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:48776093-48776096
- GRCh38:
- Chr15:48483896-48483899
| FBN1 | Q1253fs | Pes planus, Myopia, Aortic root aneurysm,
Pes valgus, Ectopia lentis, Scoliosis,
Pectus carinatum, Striae distensae, Mitral valve prolapse
| Pathogenic
(Jan 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10620297
- GRCh38:
- Chr20:10639649
| JAG1 | R1169Q | Cardiovascular phenotype, Deafness, congenital heart defects, and posterior embryotoxon, Charcot-Marie-Tooth disease, axonal, Type 2HH,
Tetralogy of Fallot, Alagille syndrome due to a JAG1 point mutation | Uncertain significance
(Jun 10, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:140054329
- GRCh38:
- Chr5:140674744
| HARS1 | I351L, I391L, I405L, I425L, I436L, I445L, I465L | Peripheral neuropathy, Intellectual disability, Distal muscle weakness,
Cerebellar ataxia, Microcephaly, Motor delay,
Dysarthria, Pes planus, Scoliosis,
Hammertoe, Joint laxityUrinary urgency,
Usher syndrome type 3B, Spastic ataxia, ...see more | Conflicting interpretations of pathogenicity
(Jul 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:140056612-140056613
- GRCh38:
- Chr5:140677027-140677028
| HARS1 | | Spastic ataxia, Intellectual disability, Distal muscle weakness,
Cerebellar ataxia, Microcephaly, Motor delay,
Dysarthria, Pes planus, Scoliosis,
Hammertoe, Joint laxityUrinary urgency,
...see more | Pathogenic
(Jan 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:48797282
- GRCh38:
- Chr15:48505085
| FBN1 | S634P | Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm,
Mitral valve prolapse, Arachnodactyly, Lens luxation,
Pes planus | Conflicting interpretations of pathogenicity
(Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:50872926
- GRCh38:
- Chr10:49664880
| CHAT | S576C, S694C, S612C | Apnea, central sleep, Aspiration pneumonia, External ophthalmoplegia,
Febrile seizure (within the age range of 3 months to 6 years), Pes planus, Gastroesophageal reflux,
Decreased activity of the pyruvate dehydrogenase complex, Progressive muscle weakness, Progressive ptosis,
Lactic acidosis, Respiratory insufficiency ...see more | Pathogenic
(Jan 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr10:50835781
- GRCh38:
- Chr10:49627735
| CHAT | T236M, T354M, T272M | Familial infantile myasthenia, External ophthalmoplegia, Lactic acidosis,
Decreased activity of the pyruvate dehydrogenase complex, Progressive muscle weakness, Apnea, central sleep,
Gastroesophageal reflux, Respiratory insufficiency, Aspiration pneumonia,
Progressive ptosis, Febrile seizure (within the age range of 3 months to 6 years)Pes planus,
...see more | Pathogenic
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:69573536
- GRCh38:
- ChrX:70353686
| KIF4A | R518P | Hypotonia, Generalized hypotonia, Poor motor coordination,
Difficulty walking, Horizontal nystagmus, Gynecomastia,
Obesity, Pes planus, Sleep disturbance,
Delayed speech and language development | Uncertain significance
(Jan 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr12:81064144
- GRCh38:
- Chr12:80670365
| PTPRQ | R2159* | Pes cavus, Impaired vibration sensation in the lower limbs, Loss of ambulation,
Hearing impairment, Pain, Unsteady gait,
Pes planus, not provided | Pathogenic
(Jun 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:53676782
- GRCh38:
- Chr1:53211110
| CPT2 | Y479F | Carnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyltransferase II deficiency, not specified,
not provided, Genu valgum, Myopathic facies,
Generalized hypotonia, Pes planus, Hyperextensibility of the finger joints,
Hyperextensibility at elbow, Hyperextensible hand joints ...see more | Conflicting interpretations of pathogenicity
(Aug 20, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:18894835-21505417
| COMT, CRKL, SERPIND1, SLC25A1, TSSK2, USP41, TANGO2, TBX1, TMEM191B, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, GNB1L, GSC2, HIRA, KLHL22, GP1BB, FAM230A, GGTLC3, SLC7A4, SNAP29, TXNRD2, UFD1, THAP7, TRMT2A, CLTCL1, AIFM3, ARVCF, C22orf39, CDC45, CLDN5, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, ZDHHC8, ZNF74 | | Abnormality of the ear, Intellectual disability, mild, Generalized hypotonia,
Attention deficit hyperactivity disorder, Clinodactyly, Pes planus,
High palate, Hypernasal speech, Delayed speech and language development,
Triangular face, Failure to thriveHypotelorism,
Leukopenia, Normocytic anemia, ...see more | Pathogenic
(Jan 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:53667997
- GRCh38:
- Chr1:53202325
| CPT2 | K79T | Carnitine palmitoyl transferase II deficiency, severe infantile form, Hyperextensibility at elbow, Genu valgum,
Pes planus, Hyperextensibility of the finger joints, Generalized hypotonia,
Myopathic facies, Hyperextensible hand joints, Carnitine palmitoyltransferase II deficiency,
not provided | Uncertain significance
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:129271109
- GRCh38:
- ChrX:130137134
| AIFM1, RAB33A | M340T, M1T, M336T | not provided, Sensorineural hearing impairment, Distal muscle weakness,
Foot dorsiflexor weakness, Pes planus, Combined oxidative phosphorylation deficiency,
Charcot-Marie-Tooth Neuropathy X | Pathogenic/Likely pathogenic
(Aug 26, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:48722939
- GRCh38:
- Chr15:48430742
| FBN1 | N2267I | Dolichocephaly, Pes planus, Mitral valve prolapse,
Scoliosis, High palate, Myopia,
Dilatation of the ascending aorta | Pathogenic
(Mar 24, 2016) | no assertion criteria provided |
| | | | Macrocephaly, Sensorineural hearing impairment, Sacral hypertrichosis,
Pes planus, Hypotonia, Camptodactyly of finger,
Lumbar hypertrichosis, Moderate global developmental delay, Cryptorchidism,
Metatarsus adductus, StrabismusDelayed speech and language development,
High palate, ...see more | Pathogenic
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Attention deficit hyperactivity disorder, Pes planus, Abnormal facial shape,
Delayed speech and language development, High palate, Upslanted palpebral fissure,
Atypical behavior, Prominent forehead, Autism with high cognitive abilities,
Aggressive behavior, Global developmental delayAbnormal hair pattern,
Abnormal aggressive, impulsive or violent behavior, Abnormal subcutaneous fat tissue distribution, ...see more | Pathogenic
(Aug 20, 2016) | criteria provided, single submitter |