| | | Deletion (frameshift variant +1 more) | Hereditary cancer-predisposing syndrome | |
| | | Deletion (frameshift variant) | Cobalamin C disease | |
| | SCNM1, TNFAIP8L2-SCNM1 (R28fs +1 more) | Deletion (frameshift variant +1 more) | Orofaciodigital syndrome 19 | |
| | | Duplication (frameshift variant) | Loricrin keratoderma | |
| | | Duplication (frameshift variant) | Loricrin keratoderma +1 more | |
| | | Single nucleotide variant (missense variant) | Noonan syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Immunodeficiency 113 with autoimmunity and autoinflammation | |
| | | Duplication (splice acceptor variant +1 more) | C3 glomerulonephritis | |
| | | Single nucleotide variant (stop lost +1 more) | Orofaciodigital syndrome V | |
| | | Deletion (frameshift variant) | Myopathy, distal, 6, adult-onset, autosomal dominant +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Nonsyndromic genetic hearing loss +2 more | GPathogenic/Likely pathogenic |
| | | Deletion | not provided | |
| | | Deletion (frameshift variant) | Hereditary pheochromocytoma-paraganglioma +1 more | GConflicting classifications of pathogenicity |
| | | Deletion | Nephronophthisis 1 +1 more | |
| | | Deletion (frameshift variant) | Thrombophilia due to protein C deficiency, autosomal dominant | |
| | | Microsatellite (frameshift variant +1 more) | Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Dilated cardiomyopathy 1NN | |
| | | Duplication (frameshift variant +1 more) | Infantile GM1 gangliosidosis | |
| | | Deletion (frameshift variant +1 more) | Brugada syndrome 1 | |
| | | Duplication (inframe_insertion) | not provided +1 more | |
| | | Deletion (frameshift variant) | Hypotonia with lactic acidemia and hyperammonemia | |
| | | Microsatellite | not provided | |
| | | Deletion (frameshift variant) | Seizures, early-onset, with neurodegeneration and brain calcifications | |
| | | Single nucleotide variant (stop lost +2 more) | Achondroplasia +14 more | |
| | | Single nucleotide variant (stop lost +2 more) | not provided | |
| | | Single nucleotide variant (stop lost +2 more) | FGFR3-related disorder | |
| | | Deletion (frameshift variant) | Rauch-Steindl syndrome | |
| | | Deletion (frameshift variant) | Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | |
| | | Single nucleotide variant (missense variant) | Glucocorticoid deficiency 4 | |
| | | Single nucleotide variant (stop lost +1 more) | not provided | GPathogenic/Likely pathogenic |
| | | Duplication (splice acceptor variant) | Sandhoff disease +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pontocerebellar hypoplasia, type 1E | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive congenital ichthyosis 6 +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Dyskeratosis congenita, autosomal recessive 2 | |
| | LOC121740638, TFAP2A-AS2
+1 more (R251G +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | LOC106780803, TNXB (N4174fs +2 more) | Duplication (frameshift variant) | Ehlers-Danlos syndrome due to tenascin-X deficiency | |
| | | Single nucleotide variant (stop lost) | Polycystic kidney disease 4 +1 more | |
| | | Microsatellite (frameshift variant) | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | |
| | | Insertion (frameshift variant) | Sialic acid storage disease, severe infantile type +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with absent language and variable seizures +1 more | |
| | | Deletion (frameshift variant) | not specified | |
| | | Microsatellite | Spinocerebellar ataxia type 17 +1 more | |
| | | Duplication (frameshift variant) | not provided | |
| | | Indel (frameshift variant +1 more) | Monogenic diabetes | |
| | | Deletion (frameshift variant +1 more) | Monogenic diabetes | |
| | | Single nucleotide variant (stop lost +1 more) | Monogenic diabetes | |
| | | Single nucleotide variant (stop lost +1 more) | Monogenic diabetes | |
| | | Single nucleotide variant (stop lost +1 more) | Monogenic diabetes | |
| | | Deletion (frameshift variant +1 more) | Monogenic diabetes | |
| | | Deletion (frameshift variant +1 more) | Maturity-onset diabetes of the young type 2 | |
| | | Deletion (frameshift variant +1 more) | Monogenic diabetes | |
| | | Deletion (frameshift variant +1 more) | Monogenic diabetes | |
| | | Deletion (frameshift variant) | Monogenic diabetes | |
| | | Deletion (frameshift variant) | Maturity-onset diabetes of the young type 2 | |
| | | Deletion (frameshift variant) | Monogenic diabetes | |
| | | Deletion (frameshift variant) | Monogenic diabetes | |
| | | Deletion (frameshift variant) | Monogenic diabetes | |
| | | Deletion (frameshift variant) | Monogenic diabetes | |
| | | Deletion (frameshift variant) | Monogenic diabetes | |
| | | Deletion (frameshift variant) | Monogenic diabetes | |
| | | Deletion (frameshift variant) | Monogenic diabetes | |
| | | Duplication (frameshift variant) | Monogenic diabetes | |
| | | Deletion (frameshift variant) | Maturity-onset diabetes of the young type 2 | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Male infertility | |
| | | Duplication (frameshift variant +1 more) | Male infertility | |
| | | Single nucleotide variant (splice acceptor variant) | Male infertility | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Dilated cardiomyopathy 2B | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | not provided | |
| | | Deletion (frameshift variant +1 more) | Jackson-Weiss syndrome | |
| | | Deletion (frameshift variant) | not provided +1 more | |
| | | Deletion (frameshift variant +2 more) | Mitochondrial complex 1 deficiency, nuclear type 17 +1 more | |
| | | Single nucleotide variant (missense variant) | Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome | |
| | | Deletion (frameshift variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myopathy 23 | |
| | | Deletion (frameshift variant) | Kleefstra syndrome 1 | |
| | | Deletion (3 prime UTR variant +2 more) | H syndrome | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Insertion (frameshift variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Postmenopausal osteoporosis +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Congenital long QT syndrome +22 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (3 prime UTR variant) | beta Thalassemia +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant) | Beta-thalassemia HBB/LCRB +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Beta-thalassemia HBB/LCRB +3 more | |
| | HBB, LOC107133510
+1 more (K145fs) | Deletion (frameshift variant) | HEMOGLOBIN TRENTO | |
| | | Deletion (intron variant) | +1 more | |
| | HBB, LOC106099062
+1 more (H78D) | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
| | HBB, LOC106099062
+1 more (T39P) | Single nucleotide variant (missense variant) | HEMOGLOBIN HAZEBROUCK | |
| | HBB, LOC106099062
+1 more (E7V +1 more) | Single nucleotide variant (missense variant) | HEMOGLOBIN S (ANTILLES) | |
| | HBB, LOC106099062
+1 more (H3P) | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion | not provided +5 more | GPathogenic/Likely pathogenic |
| | KCNK4, KCNK4-CATSPERZ (R375fs) | Duplication (non-coding transcript variant +1 more) | KCNK4-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |