| - GRCh37:
- Chr19:17927868
- GRCh38:
- Chr19:17817059
| INSL3 | R64L, V96L | Cryptorchidism | Uncertain significance
(May 6, 2021) | criteria provided, single submitter |
| | | | Familial Mediterranean fever | Pathogenic
(Dec 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:17932190
- GRCh38:
- Chr19:17821381
| INSL3 | | Cryptorchidism, not provided | Benign
(Aug 19, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:17932138
- GRCh38:
- Chr19:17821329
| INSL3 | T60A | Cryptorchidism, not provided | Benign
(Aug 19, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:139284464-141018984
| CCDC183, LRRC26, SNAPC4, SNHG7, TPRN, TRAF2, SSNA1, STPG3, TMEM141, TUBB4B, UAP1L1, TMEM203, TMEM210, TOR4A, NSMF, PAXX, PHPT1, PMPCA, PNPLA7, PTGDS, ZMYND19, MAMDC4, MAN1B1, MIR126, MRPL41, NDOR1, GRIN1, EDF1, EGFL7, LCN10, LCN12, INPP5E, NELFB, NOTCH1, NOXA1, NPDC1, NRARP, CLIC3, CYSRT1, DIPK1B, AGPAT2, DPH7, DPP7, FBXW5, FUT7, ABCA2, AJM1, ANAPC2, ARRDC1, C8G, C9orf163, CACNA1B, EHMT1, ENTPD2, ENTPD8, ENTR1, EXD3, FAM166A, LCN15, LCN6, LCN8, LCNL1, LINC02908, LOC651337, RABL6, RNF208, RNF224, SAPCD2, SEC16A, SLC34A3 | | Cryptorchidism, Coarctation of aorta | Pathogenic
(Mar 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:18909044-21464119
| AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6L, DGCR8, ESS2, FAM230A, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 | | Cryptorchidism, Neurodevelopmental delay | Pathogenic
(Oct 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:135848563
- GRCh38:
- Chr2:135090993
| RAB3GAP1 | | Congenital ptosis, Hypertrichosis, Abnormal corpus callosum morphology,
Bilateral microphthalmos, Infantile axial hypotonia, Intellectual disability, severe,
Cryptorchidism, Low-set ears, Spasticity,
Absent speech, RigidityThoracolumbar scoliosis,
Humeral cortical thickening, Cortical thickening of humeral diaphysis, Cerebral hypomyelination,
Developmental cataract, Cleft palate, Abnormality of movement,
...see more | Pathogenic
(Aug 1, 2016) | 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:
- Chr8:38027316
- GRCh38:
- Chr8:38169798
| LSM1 | | Hydroureter, Oligohydramnios, Abnormal facial shape,
Inguinal hernia, Feeding difficulties, Cryptorchidism,
Neurodevelopmental delay, Generalized hypotonia, Hemivertebrae,
Constipation, Fetal pyelectasisPatent ductus arteriosus after premature birth,
Bicuspid aortic valve, Intellectual disability, Penile hypospadias,
Triphalangeal thumb, Strabismus, Perimembranous ventricular septal defect,
Mitral stenosis, Complex neurodevelopmental disorder, ...see more | Uncertain significance
(May 28, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:102379082-102379083
- GRCh38:
- Chr13:101726732-101726733
| FGF14 | R116fs, R131fs, R163fs, R79fs, R101fs, R100fs, R103fs, R129fs, R168fs | Cryptorchidism, Hypertelorism, Cleft palate,
Bifid uvula, Scoliosis, Patent foramen ovale,
Midface retrusion, Cognitive impairment, Seizure,
Prominent supraorbital ridges, Overfolding of the superior helicesTalipes valgus,
Chronic lung disease, Hypermetropia, Pectus carinatum,
Autism, Disproportionate tall stature, Highly arched eyebrow,
...see more | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr1:165712409
- GRCh38:
- Chr1:165743172
| TMCO1 | R206*, R172*, R143* | Cerebro facio thoracic dysplasia, See cases, Relative macrocephaly,
Severely reduced visual acuity, Strabismus, Renal agenesis,
Unilateral renal agenesis, Cleft palate, Global developmental delay,
Abnormal sternum morphology, Sensorineural hearing impairmentRib fusion,
Bilateral cleft palate, Delayed speech and language development, Bilateral cleft lip,
Pulmonic stenosis, Autism, Hemivertebrae,
Cryptorchidism, Bilateral cleft lip and palate, Scoliosis,
...see more | Pathogenic
(Oct 18, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:43897129
- GRCh38:
- Chr1:43431458
| SZT2 | | See cases, Abnormality of the anterior fontanelle, Cryptorchidism,
Global developmental delay, Central hypotonia, Abnormal cerebral white matter morphology,
Seizure, Macrocephaly, Deep plantar creases
| Likely pathogenic
(Dec 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:76789795
- GRCh38:
- Chr10:75030037
| KAT6B | T1738I, T1383I, T957I, T1446I, T1043I, T1555I, T1175I, T1392I | Tapered finger, Neuropathic spinal arthropathy, Intellectual disability,
Short distal phalanx of toe, Cryptorchidism, Short nose,
Talipes equinovarus, Hypertelorism, Abnormal facial shape,
not provided | Conflicting interpretations of pathogenicity
(Jul 30, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:156772218-157870875
| ARID1B, TMEM242, ZDHHC14 | | Hypotonia, Cryptorchidism, Hypertrichosis,
Global developmental delay, Penile hypospadias, Abnormal facial shape,
Absent speech, Hypothyroidism | Uncertain significance
(Jan 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr18:2674017
- GRCh38:
- Chr18:2674018
| SMCHD1 | F171V | Arrhinia with choanal atresia and microphthalmia syndrome | Uncertain significance
(Jun 21, 2022) | 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:
- Chr3:15676986-15676987
- GRCh38:
- Chr3:15635479-15635480
| BTD | G14fs | Biotinidase deficiency | Pathogenic
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:43902925-43902927
- GRCh38:
- Chr1:43437254-43437256
| SZT2 | V1984del, V2041del | Developmental and epileptic encephalopathy, 18, Abnormal cerebral white matter morphology, Deep plantar creases,
Abnormality of the anterior fontanelle, Central hypotonia, Global developmental delay,
Cryptorchidism, Macrocephaly, Seizure,
not provided, See cases ...see more | Conflicting interpretations of pathogenicity
(Jul 1, 2023) | criteria provided, conflicting interpretations |
| | | | Macrocephaly, Lumbar hypertrichosis, Camptodactyly of finger,
Hypotonia, Sacral hypertrichosis, Strabismus,
Pes planus, Moderate global developmental delay, Metatarsus adductus,
Delayed speech and language development, High palateCryptorchidism,
Sensorineural hearing impairment, ...see more | Pathogenic
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Macrocephaly, Global developmental delay, Myopia,
Coarse hair, Impaired social interactions, Stereotypic movement disorder,
Epicanthus, Thick vermilion border, Attention deficit hyperactivity disorder,
Absent speech, Low-set earsAutistic behavior,
Seizure, Cryptorchidism, ...see more | Pathogenic
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Motor delay, Hallux valgus, Sacral dimple,
Appendicular hypotonia, Ulnar deviation of the hand, Cryptorchidism,
Absent vas deferens, Heart murmur, Axial hypotonia
| Pathogenic
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Growth delay, Abnormal facial shape, Receptive language delay,
Delayed gross motor development, Unilateral renal agenesis, Anxiety,
Missing ribs, Cryptorchidism, Autistic behavior,
Expressive language delay, SeizureFailure to thrive,
Global developmental delay, Dilatation of the sinus of Valsalva, Delayed fine motor development,
...see more | Pathogenic
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Duane anomaly, Global developmental delay, Asthma,
Proximal muscle weakness in lower limbs, Ventricular septal defect, Growth delay,
Chronic constipation, Atrial septal defect, Scoliosis,
Abnormal cardiovascular system morphology, Cryptorchidism ...see more | Uncertain significance
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Nystagmus, Plagiocephaly, Attention deficit hyperactivity disorder,
Short stature, Inguinal hernia, Cryptorchidism,
Esotropia, Global developmental delay | Uncertain significance
(Aug 20, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr16:89347633
- GRCh38:
- Chr16:89281225
| ANKRD11 | E1773* | Epicanthus, Astigmatism, Intellectual disability,
Hypertelorism, Cryptorchidism, Global developmental delay,
Hypermetropia, Wide nasal bridge, Retrognathia,
Esotropia | Pathogenic
(Jan 10, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr12:49578923
- GRCh38:
- Chr12:49185140
| TUBA1A | V409A, V374A | Tubulinopathy, not provided, Lissencephaly due to TUBA1A mutation
| Pathogenic/Likely pathogenic
(Mar 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:176662864
- GRCh38:
- Chr5:177235863
| NSD1 | W1280*, W1011*, W989*, W1029*, W1140* | Patent foramen ovale, Prominent supraorbital ridges, Disproportionate tall stature,
Overfolding of the superior helices, Talipes valgus, Autism,
Cryptorchidism, Highly arched eyebrow, Hypermetropia,
Cognitive impairment, HypertelorismMidface retrusion,
Chronic lung disease, Bifid uvula, Scoliosis,
Cleft palate, Pectus carinatum, Seizure,
Sotos syndrome, See cases, ...see more | Pathogenic
(Dec 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:3299705
- GRCh38:
- Chr16:3249705
| MEFV | R329H, R118H | Cryptorchidism, Macrocephaly, Seizure,
Deep plantar creases, Abnormal cerebral white matter morphology, Abnormality of the anterior fontanelle,
Central hypotonia, Global developmental delay, Autoinflammatory syndrome,
Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominantnot specified,
not provided, Familial Mediterranean fever, Familial Mediterranean fever,
Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis, ...see more | Conflicting interpretations of pathogenicity
(Jul 27, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:139586488-139586489
- GRCh38:
- ChrX:140504323-140504324
| SOX3 | | Pectus excavatum, Abnormality of the tongue, Pancytopenia,
Short stature, Webbed neck, Cognitive impairment,
Acute myeloid leukemia, Abnormal sternum morphology, Bilateral cleft palate,
Autism, Severely reduced visual acuityDelayed speech and language development,
Sensorineural hearing impairment, Rib fusion, Cleft palate,
Relative macrocephaly, Renal agenesis, Unilateral renal agenesis,
Scoliosis, Hemivertebrae, Bilateral cleft lip,
Strabismus, Global developmental delay, Bilateral cleft lip and palate,
Cryptorchidism, Pulmonic stenosis, not provided,
Intellectual disability, X-linked, with panhypopituitarism, ...see more | Conflicting interpretations of pathogenicity
(Aug 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:17927842
- GRCh38:
- Chr19:17817033
| INSL3 | R73* | Cryptorchidism | Pathogenic
(Nov 1, 2000) | no assertion criteria provided |
| - GRCh37:
- Chr19:17927754
- GRCh38:
- Chr19:17816945
| INSL3 | R102H, A134T | not specified, Cryptorchidism | Uncertain significance
(May 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:17927755
- GRCh38:
- Chr19:17816946
| INSL3 | R102C | Cryptorchidism | Pathogenic
(Sep 1, 2003) | no assertion criteria provided |
| - GRCh37:
- Chr19:17927781
- GRCh38:
- Chr19:17816972
| INSL3 | P93L, P125S | Cryptorchidism | Pathogenic
(Sep 1, 2003) | no assertion criteria provided |
| - GRCh37:
- Chr19:17927729
- GRCh38:
- Chr19:17816920
| INSL3 | N110K, T142S | Cryptorchidism | Pathogenic
(Jan 1, 2003) | no assertion criteria provided |
| - GRCh37:
- ChrX:76776310
- GRCh38:
- ChrX:77520832
| ATRX | R2348*, R2386* | ATRX-related condition, Ambiguous genitalia, Bone osteosarcoma,
Cryptorchidism, Intellectual disability, severe, Microcephaly,
not provided, Intellectual disability-hypotonic facies syndrome, X-linked, 1, Alpha thalassemia-X-linked intellectual disability syndrome,
See cases | Pathogenic
(Sep 18, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:32351535
- GRCh38:
- Chr13:31777398
| RXFP2 | T222P | not provided | Likely benign
(Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3293407
- GRCh38:
- Chr16:3243407
| LOC126862264, MEFV | | MEFV-related disorders, Inborn genetic diseases, Acute febrile neutrophilic dermatosis,
Autoinflammatory syndrome, Central hypotonia, Cryptorchidism,
Global developmental delay, Abnormality of the anterior fontanelle, Macrocephaly,
Deep plantar creases, Abnormal cerebral white matter morphologySeizure,
Brachydactyly, Autistic behavior, Generalized hypotonia,
Abnormal nonverbal communicative behavior, Abnormal facial shape, Profound global developmental delay,
Stereotypic movement disorder, Microcephaly, Synophrys,
Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant, not provided,
Familial Mediterranean fever, Recurrent fever, Familial Mediterranean fever,
Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis, Familial Mediterranean fever, autosomal dominant,
...see more | Pathogenic/Likely pathogenic
(Oct 1, 2023) | criteria provided, multiple submitters, no conflicts |