| | ADAMTS12, ADAMTS16 +697 more | Copy number loss | See cases | |
| | ACTBL2, ADAMTS12 +1445 more | Copy number gain | See cases | |
| | ADAMTS16, ADAMTS16-DT +642 more | Copy number gain | See cases | |
| | ADAMTS12, ADAMTS16 +953 more | Copy number gain | See cases | |
| | LINC02116, LINC02120 +696 more | Copy number gain | See cases | |
| | ADAMTS12, ADAMTS16 +952 more | Copy number gain | See cases | |
| | ADAMTS12, ADAMTS16 +657 more | Copy number loss | See cases | |
| | ADAMTS12, ADAMTS16 +530 more | Copy number gain | See cases | |
| | AGXT2, LOC121725200 +385 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | NPR3-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | NPR3-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Microsatellite (5 prime UTR variant +1 more) | not provided | |
| | | Insertion (5 prime UTR variant +1 more) | not provided | |
| | | Insertion (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Deletion (inframe_deletion +1 more) | not provided | |
| | | Microsatellite (inframe_insertion +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC123493284, NPR3 (V83fs) | Deletion (frameshift variant +1 more) | Boudin-Mortier syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Deletion (inframe_deletion +1 more) | not provided | |
| | LOC123493284, NPR3 (D118E) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | NPR3, LOC123493284 (P128A) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC123493284, NPR3 (S148P) | Single nucleotide variant (missense variant +1 more) | Boudin-Mortier syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC123493284, NPR3 (A178E) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC123493284, NPR3 (M184L) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC123493284, NPR3 (H195Y) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC123493284, NPR3 (A200S) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC123493284, NPR3 (L209Q) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC123493284, NPR3 (V220fs) | Duplication (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC123493284, NPR3 (G228D) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | LOC123493284, NPR3 (T231fs) | Microsatellite (frameshift variant +1 more) | Boudin-Mortier syndrome | |
| | LOC123493284, NPR3 (H230Y) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | LOC123493284, NPR3 (T231K) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC123493284, NPR3 (E238Q) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC123493284, NPR3 (E238D) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC123493284, NPR3 (V248A) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC123493284, NPR3 (S254G) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC123493284, NPR3 (E255Q) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |