| | LOC550113, TMPRSS11F (V329I) | Single nucleotide variant (missense variant) | not specified | |
| | LOC550113, TMPRSS11F (I319V) | Single nucleotide variant (missense variant) | not specified | |
| | LOC550113, TMPRSS11F (A261V) | Single nucleotide variant (missense variant) | not specified | |
| | LOC550113, TMPRSS11F (L182R) | Single nucleotide variant (missense variant) | not specified | |
| | LOC550113, TMPRSS11F (I173V) | Single nucleotide variant (missense variant) | not specified | |
| | LOC550113, TMPRSS11F (N164S) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC550113, TMPRSS11F (D430N) | Single nucleotide variant (missense variant) | not specified | |
| | LOC550113, TMPRSS11F (D362H) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC550113, TMPRSS11F (Q204E) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC550113, TMPRSS11F (G264D) | Single nucleotide variant (missense variant) | not specified | |
| | LOC550113, TMPRSS11F (R179S) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC550113, TMPRSS11F (I227T) | Single nucleotide variant (missense variant) | not specified | |
| | LOC550113, TMPRSS11F (A213S) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC550113, TMPRSS11F (T325A) | Single nucleotide variant (missense variant) | not specified | |
| | LOC550113, TMPRSS11F (A271T) | Single nucleotide variant (missense variant) | not specified | |
| | LOC550113, TMPRSS11F (P172R) | Single nucleotide variant (missense variant) | not specified | |
| | LOC550113, TMPRSS11F (W242R) | Single nucleotide variant (missense variant) | not specified | |
| | LOC550113, TMPRSS11F (V327A) | Single nucleotide variant (missense variant) | not specified | |
| | LOC550113, TMPRSS11F (R429Q) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC550113, TMPRSS11F (A265V) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | TMPRSS11B, TMPRSS11F +1 more | Copy number loss | not provided | |
| | LOC116158500, LOC116158501 +330 more | Deletion | See cases | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not provided | |
| | LOC110120745, LOC129992610 +360 more | Copy number loss | Piebaldism | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Delayed speech and language development +1 more | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129992665, LOC129992666 +103 more | Copy number loss | See cases | |
| | LOC129389216, LOC129389217 +757 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |