| | A2ML1-AS2, A3GALT2 +2151 more | Copy number gain | Trisomy 12p | |
| | LINC02783, LINC03126 +804 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | AADACL3, AADACL4 +563 more | Copy number gain | See cases | |
| | AADACL3, AADACL4 +462 more | Copy number loss | See cases | |
| | LOC110120623, LOC110120648 +361 more | Duplication | not specified | |
| | AADACL3, AADACL4 +337 more | Copy number loss | See cases | |
| | LOC112577504, LOC112577505 +316 more | Copy number loss | See cases | |
| | AADACL3, AADACL4 +288 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129929515, LOC129929516 +211 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126805640, LOC126805641 +206 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Bartter disease type 4B | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Bartter disease type 4B +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | 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 (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | 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) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | CLCNKA, LOC106501712 (H78P) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CLCNKA, LOC106501712 (W80C) | Single nucleotide variant (missense variant +1 more) | Bartter disease type 4B | |
| | CLCNKA, LOC106501712 (R83G) | Single nucleotide variant (missense variant +1 more) | not specified +2 more | |
| | CLCNKA, LOC106501712 (V104I) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | CLCNKA, LOC106501712 (G109D) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | 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 | |
| | CLCNKA, LOC106501712 (P81L +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CLCNKA, LOC106501712 (V106E +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | CLCNKA, LOC106501712 (P125S +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CLCNKA, LOC106501712 (R141C +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CLCNKA, LOC106501712 (R141L +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CLCNKA, LOC106501712 (E149G +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CLCNKA, LOC106501712 (S152T +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | 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 | |
| | CLCNKA, LOC106501712 (R191W +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CLCNKA, LOC106501712 (I206M +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | CLCNKA, LOC106501712 (L252F +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | CLCNKA, LOC106501712 (N214D +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | CLCNKA, LOC106501712 (Q260* +1 more) | Single nucleotide variant (nonsense) | Bartter disease type 4B | |
| | | Single nucleotide variant (intron variant) | Bartter disease type 4B +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | CLCNKA, LOC106501712 (V232I +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | CLCNKA, LOC106501712 (A244T +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CLCNKA, LOC106501712 (A244V +1 more) | Single nucleotide variant (missense variant) | Bartter disease type 4B +1 more | |
| | | Single nucleotide variant (intron variant) | Bartter disease type 4B +1 more | |
| | CLCNKA, LOC106501712 (G290C +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | CLCNKA, LOC106501712 (V251I +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CLCNKA, LOC106501712 (T312I +1 more) | Single nucleotide variant (missense variant) | Bartter disease type 4B +1 more | GConflicting classifications of pathogenicity |
| | CLCNKA, LOC106501712 (R314W +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CLCNKA, LOC106501712 (Y272F +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | CLCNKA, LOC106501712 (S274Y +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Duplication (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 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | CLCNKA, LOC106501712 (L291V +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | CLCNKA, LOC106501712 (H346R +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |