| Human | LRRK2 | 120892 | leucine-rich repeat kinase 2 | Reduced penetrance, estimated to be 15% at 60 years, 21% at 70 years, and 32% at 80 years |
| Human | GRDX | 117189 | Graves disease, susceptibility to, X-linked | Autosomal recessive vs. dominant with relative sex limitation to females and reduced penetrance postulated, but more likely multifactorial |
| Human | IFIH1 | 64135 | interferon induced with helicase C domain 1 | Autosomal recessive vs. dominant with relative sex limitation to females and reduced penetrance postulated, but more likely multifactorial |
| Human | ATL1 | 51062 | atlastin GTPase 1 | |
| Human | GRD2 | 50976 | Graves disease, susceptibility to, 2 | Autosomal recessive vs. dominant with relative sex limitation to females and reduced penetrance postulated, but more likely multifactorial |
| Human | ATXN10 | 25814 | ataxin 10 | |
| Human | KCNE3 | 10008 | potassium voltage-gated channel, Isk-related family, member 3 | Reduced penetrance in females |
| Human | MFN2 | 9927 | mitofusin 2 | Up to 25% of patients are asymptomatic or mildly affected, suggesting reduced penetrance |
| Human | LGI1 | 9211 | leucine-rich, glioma inactivated 1 | Reduced penetrance (approximately 54%) |
| Human | PHOX2B | 8929 | paired-like homeobox 2b | Autosomal recessive vs. dominant with reduced penetrance (or paternal gonadal mosaicism) |
| Human | SGCE | 8910 | sarcoglycan, epsilon | Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia Maternal imprinting of SGCE results in reduced penetrance of the disorder when the mutation is inherited from the mother |
| Human | SPAST | 6683 | spastin | These results confirm the existence of mutation in the SPG4 gene with a reduced penetrance, indicating that other genetic or environmental factors are required to trigger full-blown disease |
| Human | SOD1 | 6647 | superoxide dismutase 1, soluble | SOD1 glycine93aspartate mutation, found in DNA extracted from the hair bulbs in two deceased obligate carriers, causes a slowly developing lower motor neuron disease with a reduced penetrance |
| Human | SHH | 6469 | sonic hedgehog | |
| Human | SCN4A | 6329 | sodium channel, voltage-gated, type IV, alpha subunit | Reduced penetrance in females |
| Human | RET | 5979 | ret proto-oncogene | Autosomal recessive vs. dominant with reduced penetrance (or paternal gonadal mosaicism) |
| Human | MVK | 4598 | mevalonate kinase | Carrier frequency of 1:65 overestimates disease frequency, probably due to a reduced penetrance of V377I homozygosity |
| Human | MNX1 | 3110 | motor neuron and pancreas homeobox 1 | |
| Human | GDNF | 2668 | glial cell derived neurotrophic factor | Autosomal recessive vs. dominant with reduced penetrance (or paternal gonadal mosaicism) |
| Human | GC | 2638 | group-specific component (vitamin D binding protein) | Autosomal recessive vs. dominant with relative sex limitation to females and reduced penetrance postulated, but more likely multifactorial |
| Human | EDN3 | 1908 | endothelin 3 | Autosomal recessive vs. dominant with reduced penetrance (or paternal gonadal mosaicism) |
| Human | DRD2 | 1813 | dopamine receptor D2 | Maternal imprinting of SGCE results in reduced penetrance of the disorder when the mutation is inherited from the mother |
| Human | CTLA4 | 1493 | cytotoxic T-lymphocyte-associated protein 4 | Autosomal recessive vs. dominant with relative sex limitation to females and reduced penetrance postulated, but more likely multifactorial |
| Human | CACNA1S | 779 | calcium channel, voltage-dependent, L type, alpha 1S subunit | Reduced penetrance in females |
| Human | BDNF | 627 | brain-derived neurotrophic factor | Autosomal recessive vs. dominant with reduced penetrance (or paternal gonadal mosaicism) |
