| | GUCY2C, PLBD1-AS1 (E1017K) | Single nucleotide variant (missense variant) | Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency | |
| | GUCY2C, LOC130007489 +1 more (T1012I) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | GUCY2C, PLBD1-AS1 (T997fs) | Deletion (frameshift variant) | not provided | |
| | GUCY2C, PLBD1-AS1 (F1026C) | Single nucleotide variant (missense variant) | 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) | not provided | |
| | GUCY2C, PLBD1-AS1 (L1034S) | Single nucleotide variant (missense variant) | not provided | |
| | GUCY2C, PLBD1-AS1 (Q1020*) | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Indel (non-coding transcript variant +1 more) | not provided | |
| | GUCY2C, PLBD1-AS1 (N1032K) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | GUCY2C, PLBD1-AS1 (L1058P) | Single nucleotide variant (missense variant) | not provided | |
| | GUCY2C, LOC130007489 +1 more (F1008fs) | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | GUCY2C, PLBD1-AS1 (D1067E) | Single nucleotide variant (missense variant) | not provided | |
| | GUCY2C, LOC130007489 +1 more (P1014L) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | C12orf60, GUCY2C +1 more (T987P) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | C12orf60, GUCY2C +1 more (M1029L) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | C12orf60, GUCY2C +1 more (V983M) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | GUCY2C, PLBD1-AS1 (R1021H) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | GUCY2C, LOC130007489 +1 more (T1012N) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | GUCY2C, LOC130007489 +1 more | Single nucleotide variant (intron variant) | not provided | |
| | GUCY2C, PLBD1-AS1 (E1017V) | Single nucleotide variant (missense variant) | 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 (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Congenital diarrhea 6 | |
| | | 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 (intron variant) | not provided | |
| | | Deletion (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | GUCY2C, PLBD1-AS1 (R1049W) | Single nucleotide variant (missense variant) | not provided | |
| | GUCY2C, PLBD1-AS1 (N1032T) | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (splice donor variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | GUCY2C, LOC130007489 +1 more (P1013R) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | GUCY2C, PLBD1-AS1 (R1049Q) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | 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 | |
| | GUCY2C, PLBD1-AS1 (Q1023*) | Single nucleotide variant (nonsense) | not provided | |
| | GUCY2C, PLBD1-AS1 (Y1072C) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | GUCY2C-related condition +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | C12orf60, GUCY2C +1 more (C928R) | Single nucleotide variant (non-coding transcript variant +1 more) | Meconium ileus | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126861648, LOC126861649 +4836 more | Copy number gain | See cases | |
| | LOC130007425, LOC130007426 +1257 more | Copy number gain | See cases | |
| | LOC130007339, LOC130007340 +698 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC124625919, LOC124625920 +1009 more | Copy number gain | See cases | |
| | LOC130007649, LOC130007650 +1258 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |