| | | Single nucleotide variant (intron variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (splice acceptor variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (splice acceptor variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Muscle eye brain disease +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Muscular dystrophy-dystroglycanopathy +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (splice acceptor variant) | Muscular dystrophy-dystroglycanopathy | |
| | | Single nucleotide variant (intron variant) | RASopathy +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant +1 more) | Idiopathic nephrotic syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Hypertrophic cardiomyopathy 2 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Dilated Cardiomyopathy, Dominant +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Usher syndrome | |
| | | Duplication | not specified | |
| | | Duplication | Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more | |
| | | Duplication | Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Primary dilated cardiomyopathy +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Dilated cardiomyopathy 1G +3 more | GConflicting classifications of pathogenicity |
| | | Duplication (intron variant) | Dilated cardiomyopathy 1G +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant +1 more) | Myopathy, myofibrillar, 9, with early respiratory failure +6 more | GConflicting classifications of pathogenicity |
| | | Duplication (intron variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Early-onset myopathy with fatal cardiomyopathy +7 more | GConflicting classifications of pathogenicity |
| | | Duplication (intron variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Insertion (frameshift variant +1 more) | Lynch syndrome +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (splice acceptor variant) | not provided +8 more | GPathogenic/Likely pathogenic |
| | | Deletion | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Tip-toe gait +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Arrhythmogenic right ventricular dysplasia 8 +2 more | GConflicting classifications of pathogenicity |
| | | Duplication | Cardiomyopathy +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Dilated cardiomyopathy 1JJ +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (intron variant) | Dilated cardiomyopathy 1JJ +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Pendred syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Myopathy +8 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Deletion | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more | |
| | | Duplication (frameshift variant) | POMK-related disorder | |
| | | Deletion | Rare genetic deafness | |
| | | Duplication | not specified | |
| | | Duplication | Limb-girdle muscular dystrophy due to POMK deficiency +1 more | |
| | | Single nucleotide variant (nonsense) | Fanconi anemia +3 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Hereditary cancer-predisposing syndrome | |
| | | Duplication (frameshift variant) | Hereditary cancer-predisposing syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Fanconi anemia complementation group C +1 more | |
| | | Deletion (frameshift variant) | Fanconi anemia +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2K +10 more | |
| | | Single nucleotide variant (splice acceptor variant) | Congenital generalized lipodystrophy +2 more | |
| | | Deletion | Autosomal recessive limb-girdle muscular dystrophy | |
| | | Deletion | Kleefstra syndrome 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +4 more | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Somatotroph adenoma +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Familial cancer of breast | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Colorectal cancer +4 more | |
| | | Single nucleotide variant (intron variant) | Nonsyndromic genetic hearing loss | |
| | | Deletion (intron variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Deletion | Breast-ovarian cancer, familial, susceptibility to, 2 +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Hereditary breast ovarian cancer syndrome +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Single nucleotide variant (splice acceptor variant) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Single nucleotide variant (splice acceptor variant) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Single nucleotide variant (splice acceptor variant) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Single nucleotide variant (splice acceptor variant) | BRCA2-related cancer predisposition | |
| | | Single nucleotide variant (splice acceptor variant) | Hereditary cancer-predisposing syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Single nucleotide variant (splice donor variant) | Hereditary breast ovarian cancer syndrome +3 more | |
| | | Indel (splice acceptor variant) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Single nucleotide variant (splice acceptor variant) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Deletion (frameshift variant) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Deletion (frameshift variant) | BRCA2-related cancer predisposition | |
| | | Duplication (frameshift variant) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Single nucleotide variant (nonsense) | Hereditary breast ovarian cancer syndrome | |
| | | Deletion (frameshift variant) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Deletion (frameshift variant) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Single nucleotide variant (nonsense) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Single nucleotide variant (nonsense) | BRCA2-related cancer predisposition | |
| | | Single nucleotide variant (intron variant) | Hypertrophic cardiomyopathy 14 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (splice acceptor variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +4 more | |
| | | Single nucleotide variant (missense variant) | Stiff skin syndrome +10 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 37 +5 more | |
| | ARHGAP11A, CHRNA7 +11 more | Duplication | Familial colorectal cancer | |
| | | Duplication | Familial colorectal cancer | |
| | | Single nucleotide variant (intron variant) | Dilated Cardiomyopathy, Dominant +1 more | GConflicting classifications of pathogenicity |