| - GRCh38:
- Chr20:87153-23635465
| ADAM33, ADISSP, ADRA1D, ANGPT4, ANKEF1, AP5S1, ATRN, AVP, BANF2, BFSP1, BMP2, BTBD3, C20orf141, C20orf202, C20orf96, CASC20, CD93, CDC25B, CDS2, CENPB, CFAP61, CFAP61-AS1, CHGB, CPXM1, CRLS1, CRNKL1, CSNK2A1, CST11, CST3, CST8, CST9, CST9L, CSTL1, DDRGK1, DEFB125, DEFB126, DEFB127, DEFB128, DEFB129, DEFB132, DNAAF9, DSTN, DTD1, DTD1-AS1, DZANK1, EBF4, ESF1, FAM110A, FASTKD5, FERMT1, FKBP1A, FKBP1A-SDCBP2, FLRT3, FOXA2, GFRA4, GNRH2, GPCPD1, GZF1, HAO1, HSPA12B, IDH3B, INSM1, ISM1, ISM1-AS1, ITPA, JAG1, KAT14, KIF16B, KIZ, KIZ-AS1, LAMP5, LAMP5-AS1, LCDR, LINC00237, LINC00261, LINC00652, LINC00654, LINC00656, LINC00658, LINC00687, LINC00851, LINC01427, LINC01428, LINC01431, LINC01432, LINC01433, LINC01706, LINC01713, LINC01722, LINC01723, LINC01726, LINC01727, LINC01729, LINC01730, LINC01747, LINC01751, LINC01752, LINC02871, LINC03086, LNCNEF, LOC101929413, LOC102606466, LOC102724545, LOC105372493, LOC105372524, LOC106799846, LOC107457602, LOC108178991, LOC108178992, LOC108228200, LOC108228202, LOC109363676, LOC109504727, LOC110120914, LOC110120921, LOC110120949, LOC110121332, LOC110121338, LOC111240478, LOC111240479, LOC111365169, LOC111365189, LOC111465001, LOC112268271, LOC112694687, LOC112694688, LOC112694689, LOC112694690, LOC112694691, LOC112694692, LOC112694693, LOC112694694, LOC112694697, LOC112694698, LOC112694699, LOC112694712, LOC112694713, LOC112694729, LOC112694730, LOC112694731, LOC113939990, LOC113939991, LOC113939992, LOC114004355, LOC114827862, LOC116286198, LOC116286199, LOC116286200, LOC116286201, LOC116286202, LOC116286203, LOC121627890, LOC121627891, LOC121627892, LOC121627893, LOC121627894, LOC121627895, LOC121627896, LOC121627897, LOC121627898, LOC121627899, LOC121852995, LOC121852996, LOC121852997, LOC121852998, LOC121852999, LOC121853000, LOC125384555, LOC125384556, LOC125384557, LOC125384558, LOC125384559, LOC125384560, LOC125384561, LOC125384562, LOC125384563, LOC125384564, LOC125384565, LOC125384566, LOC125384567, LOC125384568, LOC125384569, LOC125384570, LOC125384571, LOC125384572, LOC125384573, LOC125384574, LOC125384575, LOC125384576, LOC125384577, LOC125384578, LOC125384579, LOC125384580, LOC125384581, LOC125384582, LOC125384583, LOC125384584, LOC125384585, LOC125384586, LOC125384587, LOC125384588, LOC125384589, LOC125384590, LOC125384592, LOC125384593, LOC125384594, LOC125387241, LOC125387242, LOC125387243, LOC125387244, LOC125387245, LOC126862948, LOC126862949, LOC126862950, LOC126862951, LOC126862952, LOC126862953, LOC126862954, LOC126862955, LOC126862956, LOC126862957, LOC126862958, LOC126862959, LOC126862960, LOC126862961, LOC126862962, LOC126862963, LOC126862964, LOC126862965, LOC126862966, LOC126862967, LOC126862968, LOC126862969, LOC126862970, LOC126862971, LOC126862972, LOC126862973, LOC126862974, LOC126862975, LOC126862976, LOC126862977, LOC126862978, LOC126862979, LOC126862980, LOC126862981, LOC126862982, LOC126862983, LOC126862984, LOC126862985, LOC126862986, LOC126862987, LOC126862988, LOC126862989, LOC126862990, LOC126862991, LOC126862992, LOC126862993, LOC126862994, LOC126862995, LOC126862996, LOC126862997, LOC126862998, LOC126862999, LOC126863000, LOC126863001, LOC126863002, LOC126863003, LOC126863004, LOC128706665, LOC128706666, LOC284788, LOC339593, LOC613266, LOC643406, LRRN4, LZTS3, MACROD2, MACROD2-AS1, MACROD2-IT1, MAVS, MCM8, MCM8-AS1, MGME1, MIR103A2, MIR103B2, MIR1292, MIR3192, MIR6869, MIR6870, MIR8062, MKKS, MRPS26, NAA20, NAPB, NDUFAF5, NKX2-2, NKX2-4, NOP56, NRSN2, NRSN2-AS1, NSFL1C, NXT1, OTOR, OVOL2, OXT, PAK5, PANK2, PARAL1, PAX1, PCED1A, PCNA, PCNA-AS1, PCSK2, PDYN, PDYN-AS1, PET117, PLCB1, PLCB1-IT1, PLCB4, POLR3F, PRND, PRNP, PRNT, PROKR2, PSMF1, PTPRA, RAD21L1, RALGAPA2, RASSF2, RBBP9, RBCK1, RIN2, RNF24, RNU105B, RRBP1, RSPO4, SCP2D1, SCP2D1-AS1, SCRT2, SDCBP2, SDCBP2-AS1, SEC23B, SEL1L2, SHLD1, SIGLEC1, SIRPA, SIRPB1, SIRPB2, SIRPD, SIRPG, SIRPG-AS1, SLC23A2, SLC24A3, SLC24A3-AS1, SLC4A11, SLC52A3, SLX4IP, SMIM26, SMOX, SNAP25, SNAP25-AS1, SNORA51, SNORD110, SNORD119, SNORD17, SNORD56, SNORD57, SNORD86, SNPH, SNRPB, SNRPB2, SNX5, SOX12, SPEF1, SPTLC3, SRXN1, SSTR4, STK35, TASP1, TBC1D20, TCF15, TGM3, TGM6, THBD, TMC2, TMEM230, TMEM239, TMEM74B, TMX4, TMX4-AS1, TRIB3, TRMT6, UBOX5, UBOX5-AS1, VPS16, XRN2, ZCCHC3, ZNF133, ZNF133-AS1, ZNF343 | | Renal agenesis | Pathogenic
(Aug 24, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr10:60544841
- GRCh38:
- Chr10:58785081
| BICC1 | | Renal agenesis | Likely pathogenic
(Dec 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:79396656
- GRCh38:
- Chr4:78475502
| FRAS1 | Q2583* | Renal agenesis | Pathogenic
(Dec 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:79204042
- GRCh38:
- Chr4:78282888
| FRAS1 | Y392* | Renal agenesis | Pathogenic
(Dec 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:79188484
- GRCh38:
- Chr4:78267330
| FRAS1 | Y293* | Renal agenesis | Pathogenic
(Dec 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:19076438
- GRCh38:
- Chr18:21496477
| GREB1L | R1057P | Anhydramnios, Renal agenesis | Uncertain significance
(Dec 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:19029802
- GRCh38:
- Chr18:21449841
| GREB1L, LOC101927521 | | Anhydramnios, Renal agenesis | Uncertain significance
(Dec 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:19057202
- GRCh38:
- Chr18:21477241
| GREB1L | L814P | Anhydramnios, Renal agenesis | Uncertain significance
(Dec 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:54395733-54395734
- GRCh38:
- Chr1:53930060-53930061
| HSPB11 | L19fs, L62fs | Renal agenesis | Uncertain significance
(Apr 29, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr4:123271240
- GRCh38:
- Chr4:122350085
| KIAA1109 | | Right aortic arch, Renal agenesis, Hemivertebrae
| Uncertain significance
(Oct 16, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123207811
- GRCh38:
- Chr4:122286656
| KIAA1109 | V3052fs | Right aortic arch, Renal agenesis, Hemivertebrae
| Pathogenic
(Oct 16, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:85220808-85517846
| TBX18 | | Renal agenesis, Anophthalmia | Uncertain significance
(Jul 10, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr1:165712409
- GRCh38:
- Chr1:165743172
| TMCO1 | R206*, R172*, R143* | Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1, Autism, Pulmonic stenosis,
Sensorineural hearing impairment, Abnormal sternum morphology, Cryptorchidism,
Scoliosis, Hemivertebrae, Strabismus,
Bilateral cleft palate, Delayed speech and language developmentRelative macrocephaly,
Rib fusion, Severely reduced visual acuity, Renal agenesis,
Global developmental delay, Cleft palate, Unilateral renal agenesis,
Bilateral cleft lip, Bilateral cleft lip and palate, See cases,
...see more | Pathogenic
(Dec 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:139586488-139586489
- GRCh38:
- ChrX:140504323-140504324
| SOX3 | | Intellectual disability, X-linked, with panhypopituitarism, not provided, Cognitive impairment,
Pectus excavatum, Acute myeloid leukemia, Abnormality of the tongue,
Pancytopenia, Short stature, Webbed neck,
Autism, Severely reduced visual acuityStrabismus,
Cryptorchidism, Abnormal sternum morphology, Bilateral cleft palate,
Cleft palate, Bilateral cleft lip, Relative macrocephaly,
Delayed speech and language development, Sensorineural hearing impairment, Renal agenesis,
Unilateral renal agenesis, Scoliosis, Hemivertebrae,
Pulmonic stenosis, Rib fusion, Global developmental delay,
Bilateral cleft lip and palate, ...see more | Conflicting interpretations of pathogenicity
(Aug 5, 2022) | criteria provided, conflicting interpretations |