| | GJD2-DT, ACTC1 (R227H +2 more) | Single nucleotide variant (missense variant) | Arthrogryposis | |
| | | Single nucleotide variant (missense variant) | Neu-Laxova syndrome 2 | |
| | NEB, RIF1 (I5611fs +2 more) | Deletion (frameshift variant) | Arthrogryposis multiplex congenita 6 | |
| | | Single nucleotide variant (missense variant +1 more) | Arthrogryposis multiplex congenita 6 | |
| | | Single nucleotide variant (missense variant) | Alkuraya-Kucinskas syndrome | |
| | | Single nucleotide variant (nonsense +2 more) | COG6-congenital disorder of glycosylation | |
| | | Single nucleotide variant (nonsense) | Nemaline myopathy 8 | |
| | | Indel (intron variant) | Ritscher-Schinzel syndrome 1 | |
| | | Deletion | Alagille syndrome due to a JAG1 point mutation | |
| | | Single nucleotide variant | Alagille syndrome due to a JAG1 point mutation | |
| | | Deletion | Alagille syndrome due to a JAG1 point mutation | |
| | | Deletion | Alagille syndrome due to a JAG1 point mutation | |
| | | Single nucleotide variant (nonsense) | Interstitial pulmonary disease | |
| | | Single nucleotide variant (intron variant) | Central precocious puberty | |
| | | Single nucleotide variant (nonsense) | Central precocious puberty | |
| | LOC129993734, RETREG1
+1 more (A35fs) | Deletion (frameshift variant) | Neuropathy, hereditary sensory and autonomic, type 2B | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Duplication (frameshift variant) | Fraser syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form | |
| | | Single nucleotide variant (missense variant +1 more) | Tay-Sachs disease | |
| | | Single nucleotide variant (missense variant) | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | |
| | | Single nucleotide variant (splice donor variant) | Ehlers-Danlos syndrome, classic type, 1 +1 more | |
| | | Single nucleotide variant (nonsense) | Norman-Roberts syndrome | |
| | | Microsatellite (inframe_deletion) | Lissencephaly type 1 due to doublecortin gene mutation | |
| | | Single nucleotide variant (missense variant) | Fanconi anemia complementation group A | |
| | FANCA, LOC130059837 (W893*) | Single nucleotide variant (nonsense) | Fanconi anemia complementation group A | |
| | | Microsatellite (frameshift variant) | Fanconi anemia complementation group F | |
| | | Deletion (frameshift variant +1 more) | Fanconi anemia complementation group A | |
| | | Deletion | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Cold-induced sweating syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | PERCHING syndrome | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta, perinatal lethal | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta, perinatal lethal | |
| | | Single nucleotide variant (missense variant) | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | |
| | | Deletion (frameshift variant) | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | |
| | GALT, LOC130001683 (R67fs) | Deletion (frameshift variant +1 more) | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | |
| | | Single nucleotide variant (nonsense) | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | |
| | | Deletion (nonsense) | Osteogenesis imperfecta type 8 | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta, perinatal lethal | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta, perinatal lethal | |
| | | Single nucleotide variant (splice acceptor variant) | Osteogenesis imperfecta, perinatal lethal | |
| | | Single nucleotide variant (splice acceptor variant) | 3M syndrome 1 | |
| | LOC126859871, PRKN (V164fs) | Deletion (frameshift variant +1 more) | Autosomal recessive juvenile Parkinson disease 2 | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 8 | |
| | | Single nucleotide variant (nonsense) | Combined oxidative phosphorylation defect type 8 | |
| | | Single nucleotide variant (missense variant) | ALG8 congenital disorder of glycosylation | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Deletion (frameshift variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (missense variant +1 more) | Succinyl-CoA acetoacetate transferase deficiency | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Deletion (frameshift variant +1 more) | See cases | |
| | | Single nucleotide variant (nonsense) | Isolated growth hormone deficiency, type 4 | |
| | | Single nucleotide variant (missense variant) | Familial acute necrotizing encephalopathy | |
| | | Single nucleotide variant (nonsense) | CARASIL syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | |
| | | Single nucleotide variant (missense variant) | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | |
| | | Single nucleotide variant (missense variant) | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | |
| | | Duplication (frameshift variant) | Cleidocranial dysostosis | |
| | | Deletion (splice donor variant) | Cleidocranial dysostosis | |
| | | Deletion (frameshift variant +1 more) | Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome | |
| | | Indel (frameshift variant) | Cleidocranial dysostosis | |
| | | Duplication (frameshift variant +2 more) | Cleidocranial dysostosis | |
| | | Indel (frameshift variant) | Cleidocranial dysostosis | |
| | | Deletion (frameshift variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (missense variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (missense variant) | not provided | GPathogenic/Likely pathogenic |
| | LOC109611589, RUNX2 (Q54fs +1 more) | Indel (frameshift variant) | Cleidocranial dysostosis | |
| | | Single nucleotide variant (intron variant) | Cleidocranial dysostosis | |
| | | Deletion (frameshift variant) | Familial cancer of breast +2 more | |
| | | Single nucleotide variant (splice donor variant +1 more) | Fanconi anemia complementation group E | |
| | | Single nucleotide variant (nonsense) | Fanconi anemia | |
| | | Single nucleotide variant (intron variant) | Fanconi anemia complementation group A | |
| | | Single nucleotide variant (intron variant) | Fanconi anemia complementation group A | |
| | | Microsatellite (nonsense) | Fanconi anemia +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Fanconi anemia complementation group A | |
| | | Single nucleotide variant (missense variant) | Fanconi anemia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Fanconi anemia | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency +1 more | |
| | | Microsatellite (inframe_deletion) | Fanconi anemia +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite (inframe_insertion) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | PERCHING syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Fanconi anemia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Shwachman-Diamond syndrome 1 +2 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Fetal akinesia deformation sequence 2 +3 more | GPathogenic/Likely pathogenic |