| | | Copy number gain | See cases | |
| | CLEC12A, CLEC12A-AS1 +1258 more | Copy number gain | See cases | |
| | LOC126861410, LOC126861411 +1258 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130007230, LOC130007231 +1257 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126861494, LOC126861495 +1257 more | Copy number gain | See cases | |
| | CACNA1C-AS2, CACNA1C-AS4 +1242 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130007190, LOC130007191 +698 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | GUCY2C, PLBD1-AS1 (Y1072C) | Single nucleotide variant (missense variant) | not provided | |
| | GUCY2C, PLBD1-AS1 (D1067E) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | GUCY2C, PLBD1-AS1 (L1058P) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | GUCY2C, PLBD1-AS1 (A1051T) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | GUCY2C, PLBD1-AS1 (R1049Q) | Single nucleotide variant (missense variant) | not provided | |
| | GUCY2C, PLBD1-AS1 (R1049W) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | GUCY2C, PLBD1-AS1 (L1034S) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | GUCY2C, PLBD1-AS1 (N1032K) | Single nucleotide variant (missense variant) | not provided | |
| | GUCY2C, PLBD1-AS1 (N1032T) | Single nucleotide variant (missense variant) | not provided | |
| | GUCY2C, PLBD1-AS1 (M1029L) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | PLBD1-AS1, GUCY2C (F1026C) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | GUCY2C, PLBD1-AS1 (Q1023*) | Single nucleotide variant (nonsense) | not provided | |
| | GUCY2C, PLBD1-AS1 (R1021H) | Single nucleotide variant (missense variant) | not provided | |
| | GUCY2C, PLBD1-AS1 (Q1020*) | Single nucleotide variant (nonsense) | not provided | |
| | GUCY2C, PLBD1-AS1 (E1017V) | Single nucleotide variant (missense variant) | not provided | |
| | GUCY2C, PLBD1-AS1 (E1017K) | Single nucleotide variant (missense variant) | Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency | |
| | | 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 | |
| | GUCY2C, LOC130007489 +1 more | Single nucleotide variant (intron variant) | not provided | |
| | GUCY2C, LOC130007489 +1 more (T1015I) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | GUCY2C, LOC130007489 +1 more (P1014L) | Single nucleotide variant (missense variant) | not provided | |
| | GUCY2C, LOC130007489 +1 more (P1013R) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | GUCY2C, LOC130007489 +1 more (T1012I) | Single nucleotide variant (missense variant) | not provided | |
| | GUCY2C, LOC130007489 +1 more (T1012N) | Single nucleotide variant (missense variant) | not provided | |
| | GUCY2C, LOC130007489 +1 more (F1008fs) | Deletion (frameshift variant) | not provided | |
| | GUCY2C, PLBD1-AS1 (T997fs) | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous 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 | |
| | | Deletion (splice donor variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense 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) | Congenital diarrhea 6 | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | | Deletion (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Indel (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | C12orf60, GUCY2C +1 more (C928R) | Single nucleotide variant (non-coding transcript variant +1 more) | Meconium ileus | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Deletion (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | GUCY2C-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency +1 more | |