| | | Microsatellite (frameshift variant) | Neural tube defects, folate-sensitive +5 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | not specified +6 more | |
| | | Single nucleotide variant (missense variant) | Abnormal circulating lipid concentration +7 more | GPathogenic/Likely pathogenic |
| | | Deletion (nonsense) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | See cases +2 more | GPathogenic/Likely pathogenic |
| | ADAMTSL4, ADAMTSL4-AS2 (E382fs) | Deletion (frameshift variant) | See cases +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Autoimmune interstitial lung disease-arthritis syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Trimethylaminuria +2 more | |
| | | Single nucleotide variant (missense variant) | Rare genetic deafness +6 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Retinal dystrophy +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Usher syndrome | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Noonan syndrome and Noonan-related syndrome | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | Cobalamin C disease +2 more | GConflicting classifications of pathogenicity |
| | NEB, RIF1 (E8100fs +1 more) | Duplication (frameshift variant +1 more) | See cases +4 more | |
| | NEB, RIF1 (Y6011fs +2 more) | Indel (frameshift variant) | See cases +1 more | |
| | LOC129935184, TTN
+1 more (S35172del +5 more) | Deletion (inframe_deletion) | See cases +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +2 more) | Retinitis pigmentosa 26 +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inherited Immunodeficiency Diseases +17 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | See cases +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | See cases +2 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Noonan syndrome | |
| | | Microsatellite (frameshift variant +2 more) | XPC-related condition +4 more | |
| | | Single nucleotide variant (missense variant +2 more) | See cases +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type IV +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | See cases +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant +1 more) | See cases +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +32 more | |
| | | Single nucleotide variant (missense variant +1 more) | Malignant tumor of urinary bladder +17 more | |
| | | Single nucleotide variant (missense variant +2 more) | Thanatophoric dysplasia type 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | |
| | | Single nucleotide variant (stop lost +2 more) | not provided | |
| | | Duplication (3 prime UTR variant +1 more) | not provided +8 more | |
| | CNGA1, LOC101927157 (S389F) | Single nucleotide variant (missense variant) | Retinal dystrophy +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Intellectual disability, autosomal dominant 50 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Methylmalonic aciduria, cblA type +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Single nucleotide variant (splice acceptor variant) | Joubert syndrome 17 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | PIK3R1-related condition +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | See cases +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autoinflammation with episodic fever and lymphadenopathy +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | See cases +4 more | GPathogenic/Likely pathogenic |
| | LOC126859646, VARS2 (R512W +2 more) | Single nucleotide variant (missense variant) | not provided +3 more | |
| | CYP21A2, LOC106780800 (P454S +2 more) | Single nucleotide variant (missense variant) | CYP21A2-related condition +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | See cases +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Heimler syndrome 2 +4 more | GPathogenic/Likely pathogenic |
| | MEA1, PPP2R5D (E198K +3 more) | Single nucleotide variant (missense variant) | Neurodevelopmental delay +6 more | |
| | | Deletion (frameshift variant) | Autosomal recessive polycystic kidney disease +3 more | |
| | | Single nucleotide variant (nonsense) | Polycystic kidney disease 4 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | See cases +4 more | GPathogenic/Likely pathogenic |
| | ARG1, MED23 (T135I +1 more) | Single nucleotide variant (missense variant +2 more) | See cases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Coffin-Siris syndrome 1 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Young-onset Parkinson disease +7 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (inframe_deletion) | See cases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Peroxisome biogenesis disorder 1A (Zellweger) +7 more | |
| | | Single nucleotide variant (missense variant) | DLD-Related Disorders +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (inframe_deletion) | Cystic fibrosis | |
| | | Duplication (frameshift variant) | Cystic fibrosis | |
| | | Single nucleotide variant (splice acceptor variant) | Neurodevelopmental disorder +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (5 prime UTR variant +1 more) | Hereditary breast ovarian cancer syndrome +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | See cases +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia type 1B +5 more | |
| | | Single nucleotide variant (missense variant) | Hereditary fructosuria +4 more | |
| | | Single nucleotide variant (missense variant) | Hereditary fructosuria +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | See cases +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Citrullinemia type I +3 more | GPathogenic/Likely pathogenic |
| | | Insertion (5 prime UTR variant +1 more) | Mitochondrial complex IV deficiency, nuclear type 1 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 14 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Autism +12 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Costello syndrome | |
| | HBB, LOC106099062
+1 more (E7V) | Single nucleotide variant (missense variant) | not provided +16 more | |
| | | Single nucleotide variant (nonsense +2 more) | Niemann-Pick disease, type A +4 more | |
| | | Single nucleotide variant (missense variant) | Left ventricular noncompaction 10 +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease, type V +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | See cases +3 more | |
| | | Single nucleotide variant (missense variant) | Aortic root aneurysm +13 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Global developmental delay +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Smith-Lemli-Opitz syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Tyrosinase-negative oculocutaneous albinism +5 more | |
| | | Single nucleotide variant (missense variant) | Tyrosinase-negative oculocutaneous albinism +5 more | |
| | | Single nucleotide variant (missense variant) | MRE11-related condition +6 more | |
| | | Deletion (frameshift variant) | Familial cancer of breast +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | Familial cancer of breast +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | ALG9 congenital disorder of glycosylation +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | See cases +3 more | |