| - 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:
- Chr17:80049339-80049340
- GRCh38:
- Chr17:82091463-82091464
| FASN | A418fs | Hearing impairment, Clinodactyly, Midface retrusion,
Abnormal facial shape, Tremor, Finger clinodactyly,
Thrombocytopenia, Esotropia | Uncertain significance
(Jun 27, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:17753685
- GRCh38:
- Chr19:17642876
| UNC13A | P814L, P812L | UNC13A-associated disorder, Febrile seizure (within the age range of 3 months to 6 years), Cerebellar ataxia,
Tremor, Delayed speech and language development, Developmental regression
| Likely pathogenic
(Jan 2, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr6:152464862
- GRCh38:
- Chr6:152143727
| SYNE1 | G517C, G541C, G8291C, G8339C | Tremor | Uncertain significance
(Mar 17, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr5:140057005
- GRCh38:
- Chr5:140677420
| HARS1 | | Spastic ataxia, Oculomotor apraxia, Nystagmus,
Dysarthria, Intellectual disability, Choreoathetosis,
Peripheral neuropathy, Spastic ataxia, Cerebellar atrophy,
Dysmetria, Tremor ...see more | Pathogenic
(Jan 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:140057507
- GRCh38:
- Chr5:140677922
| HARS1 | D132Y, D146Y, D166Y, D177Y, D186Y, D206Y, D92Y | Spastic ataxia, Oculomotor apraxia, Nystagmus,
Dysarthria, Intellectual disability, Choreoathetosis,
Peripheral neuropathy, Spastic ataxia, Cerebellar atrophy,
Dysmetria, Tremor ...see more | Pathogenic
(Jan 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:9032
- GRCh38:
- ChrMT:9032
| MT-ATP6 | | Mitochondrial disease | Uncertain significance
(Oct 26, 2021) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr16:2547069
- GRCh38:
- Chr16:2497068
| TBC1D24 | N307S | TBC1D24-related condition, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1,
Autosomal dominant nonsyndromic hearing loss 65, Myoclonus, Tremor,
Seizure, Nystagmus, Dysarthria,
not specified | Conflicting interpretations of pathogenicity
(Jul 19, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:89971137
- GRCh38:
- Chr5:90675320
| ADGRV1 | I1730F | Cerebral arteriovenous malformation, Arteriovenous malformation, Hand tremor,
Tremor | Uncertain significance
(Jan 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr16:1270816
- GRCh38:
- Chr16:1220816
| CACNA1H | S2295F, S2289F | Arteriovenous malformation, Cerebral arteriovenous malformation, Tremor,
Hand tremor, Hyperaldosteronism, familial, type IV, Epilepsy, childhood absence, susceptibility to, 6
| Uncertain significance
(Jan 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:121746134
- GRCh38:
- Chr2:120988558
| GLI2 | T882S, T865S, T740S | Arteriovenous malformation, Cerebral arteriovenous malformation, Hand tremor,
Tremor, Exostoses, Hyperactivity,
Seizure, Deeply set eye, Secondary microcephaly,
Poor speech, Intellectual disability ...see more | Uncertain significance
(Jan 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:36359296-36359298
- GRCh38:
- Chr1:35893695-35893697
| AGO1 | F180del, F105del | not provided, Intellectual disability, severe, Severe global developmental delay,
Seizure, Self-injurious behavior, Tremor,
See cases, Inborn genetic diseases | Conflicting interpretations of pathogenicity
(Apr 19, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:161275714
- GRCh38:
- Chr1:161305924
| MPZ | S233R | Roussy-Lévy syndrome, Sensorimotor neuropathy, EMG: neuropathic changes,
Limb muscle weakness, Tremor | Likely pathogenic
(Jan 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr8:94798483
- GRCh38:
- Chr8:93786255
| TMEM67 | R360C, R441C | Meckel-Gruber syndrome, Familial aplasia of the vermis, Bardet-Biedl syndrome 14,
Meckel syndrome, type 3, Nephronophthisis 11, COACH syndrome 1,
Joubert syndrome 6, Absent speech, Pancreatitis,
Visual impairment, Intellectual disability, severeKidney damage,
Barrel-shaped chest, Congenital ocular coloboma, Peritonitis,
Nystagmus, Cerebellar malformation, Global developmental delay,
Infantile muscular hypotonia, Cerebellar vermis hypoplasia, Tremor,
Inborn genetic diseases, Joubert syndrome 6, Renal cyst,
Familial aplasia of the vermis, Oligohydramnios, ...see more | Pathogenic/Likely pathogenic
(Feb 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:130435529
- GRCh38:
- Chr9:127673250
| STXBP1 | R367*, R331*, R353*, R364* | Developmental and epileptic encephalopathy, 4, Early infantile epileptic encephalopathy with suppression bursts, Tremor,
Cerebellar ataxia, Moderate global developmental delay, not provided,
Epileptic encephalopathy, Intellectual disability | Pathogenic
(Mar 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:155206167
- GRCh38:
- Chr1:155236376
| GBA1, LOC106627981 | E365K, E278K, E316K | not provided, not specified, Gaucher disease,
Parkinson disease, late-onset, Gaucher disease perinatal lethal, Abnormality of speech or vocalization,
Hypertensive disorder, Dementia, Lower limb muscle weakness,
Parkinsonism, HyperlipidemiaParkinsonism,
Rigidity, Cogwheel rigidity, Parkinsonism,
Tremor, ...see more | Benign/Likely benign; risk factor
(Oct 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:116681080-119775014
| ASF1A, CALHM4, CALHM5, CALHM6, CEP85L, DCBLD1, DSE, FAM162B, FAM184A, GOPC, GPRC6A, KPNA5, MAN1A1, MCM9, NUS1, PLN, RFX6, ROS1, RSPH4A, RWDD1, SLC35F1, TRAPPC3L, VGLL2, ZUP1 | | Tremor, Delayed speech and language development, Microcephaly,
Intellectual disability | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr6:117971549-118218720
- GRCh38:
- Chr6:117650386-117897557
| LOC101927919, LOC129389624, LOC129389625, LOC129997069, NUS1 | | Intellectual disability, Tremor, generalized epilepsy with atypical absence and tonic/myoclonic seizures
| Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr6:117961791-118280044
- GRCh38:
- Chr6:117640628-117958881
| LOC101927919, LOC126859772, LOC129389624, LOC129389625, LOC129997069, NUS1, SLC35F1 | | Intellectual disability, Tremor, generalized epilepsy with atypical absence seizures
| Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr6:110064340
- GRCh38:
- Chr6:109743137
| FIG4 | E302K | Charcot-Marie-Tooth disease type 4, Tremor | Conflicting interpretations of pathogenicity
(Jul 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:30193654
- GRCh38:
- Chr19:29702747
| C19orf12 | K142E, K131E, K67E | Hereditary spastic paraplegia 43, not specified, not provided,
Neurodegeneration with brain iron accumulation 4, Hereditary spastic paraplegia, Hereditary spastic paraplegia 5A,
Adult-onset night blindness, Peripheral visual field loss, Dystonic disorder,
Mental deterioration, Tremor ...see more | Conflicting interpretations of pathogenicity
(May 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:30193873
- GRCh38:
- Chr19:29702966
| C19orf12 | G69R, G58R | Hereditary spastic paraplegia 43, not provided, Neurodegeneration with brain iron accumulation,
Neurodegeneration with brain iron accumulation 4, Dystonic disorder, Adult-onset night blindness,
Peripheral visual field loss, Mental deterioration, Tremor
| Pathogenic/Likely pathogenic
(May 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:155206167
- Chr1:155208361
- GRCh38:
- Chr1:155236376
- Chr1:155238570
| GBA1, LOC106627981, GBA1, LOC106627981 | E365K, E278K, E316K, D179H, D130H, D92H | Gaucher disease type I | Pathogenic
(Jun 1, 2004) | no assertion criteria provided |
| - GRCh37:
- Chr8:94808198
- GRCh38:
- Chr8:93795970
| TMEM67 | C615R, C534R | TMEM67-related condition, Cerebellar vermis hypoplasia, Tremor,
Intellectual disability, severe, Cerebellar malformation, Kidney damage,
Absent speech, Barrel-shaped chest, Infantile muscular hypotonia,
Congenital ocular coloboma, Visual impairmentPancreatitis,
Global developmental delay, Nystagmus, Peritonitis,
TMEM67-Related Disorders, RHYNS syndrome, Joubert syndrome 6,
COACH syndrome 1, Bardet-Biedl syndrome 14, Meckel syndrome, type 3,
Nephronophthisis 11, Inborn genetic diseases, Familial aplasia of the vermis,
Meckel-Gruber syndrome, not provided, Joubert syndrome 6,
Renal cyst, Familial aplasia of the vermis, Oligohydramnios,
...see more | Pathogenic/Likely pathogenic
(Sep 6, 2023) | criteria provided, multiple submitters, no conflicts |