| | AASDHPPT, ABCG4 +1199 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130006895, LOC130006896 +355 more | Copy number gain | See cases | |
| | LOC130006826, LOC130006827 +90 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC128772366, LOC128772367 +764 more | Copy number gain | See cases | |
| | LOC130006864, LOC130006865 +763 more | Copy number gain | See cases | |
| | LOC130007002, LOC130007003 +499 more | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal hypomagnesemia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal Hypomagnesemia, Dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal hypomagnesemia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal hypomagnesemia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal hypomagnesemia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal hypomagnesemia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal hypomagnesemia 2 | |
| | | 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) | Renal hypomagnesemia 2 +1 more | |
| | | Single nucleotide variant (splice donor variant) | FXYD2-related disorder | |
| | | Single nucleotide variant (3 prime UTR variant) | FXYD2-related disorder | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal hypomagnesemia 2 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Renal hypomagnesemia 2 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Renal hypomagnesemia 2 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Renal hypomagnesemia 2 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | FXYD2, FXYD6-FXYD2 (E61K +2 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | FXYD2, FXYD6-FXYD2 (N140S +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | Renal hypomagnesemia 2 +1 more | |
| | | 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) | Renal hypomagnesemia 2 +1 more | |
| | FXYD2, FXYD6-FXYD2 (R59K +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | FXYD2, FXYD6-FXYD2 (R56H +2 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | FXYD2, FXYD6-FXYD2 (K56E +2 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | FXYD2, FXYD6-FXYD2 (P108L +3 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (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 (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | FXYD2, FXYD6-FXYD2 (G41R +2 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | FXYD2, FXYD6-FXYD2 (A37D +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | FXYD2, FXYD6-FXYD2 (V24I +2 more) | Single nucleotide variant (missense variant +1 more) | Renal hypomagnesemia 2 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Deletion (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | 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 | |
| | FXYD2, FXYD6-FXYD2 (W104R) | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | FXYD2, FXYD6-FXYD2 (Y19C +2 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | FXYD2, FXYD6-FXYD2 (F97L +3 more) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | FXYD2, FXYD6-FXYD2 (V101I) | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | FXYD2, FXYD6-FXYD2 (P16L +2 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Renal hypomagnesemia 2 | |
| | FXYD2, FXYD6-FXYD2 (G10S +3 more) | Single nucleotide variant (missense variant) | FXYD2-related disorder +2 more | GConflicting classifications of pathogenicity |
| | | 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 | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Renal hypomagnesemia 2 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Renal hypomagnesemia 2 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | 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 (5 prime UTR variant +1 more) | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | not provided | |
| | | Deletion | not provided | |
| | | Duplication | not provided | |
| | | Duplication | Immunodeficiency 19 +5 more | |
| | | Copy number gain | MISSED ABORTION | |
| | | Duplication | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Deletion | Intellectual disability | |
| | | Duplication | Distal trisomy 11q | |