| | LOC129389216, LOC129389217 +757 more | Copy number gain | See cases | |
| | CDKL2, LOC110120745 +360 more | Copy number loss | Piebaldism | |
| | LOC129992665, LOC129992666 +103 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Deletion | See cases | |
| | LOC129992695, LOC129992696 +533 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (synonymous variant) | SLC4A4-related disorder | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive proximal renal tubular acidosis +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive proximal renal tubular acidosis | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive proximal renal tubular acidosis | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | SLC4A4-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC129992668, SLC4A4 (S11G) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | LOC129992668, SLC4A4 (L13F) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC129992668, SLC4A4 (G14A) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC129992668, SLC4A4 (G14E) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC129992668, SLC4A4 (F24I) | Single nucleotide variant (missense variant +1 more) | Autosomal recessive proximal renal tubular acidosis | |
| | LOC129992668, SLC4A4 (F24C) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense +1 more) | Autosomal recessive proximal renal tubular acidosis | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive proximal renal tubular acidosis | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | 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) | Autosomal recessive proximal renal tubular acidosis +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Autosomal recessive proximal renal tubular acidosis +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal recessive proximal renal tubular acidosis +2 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive proximal renal tubular acidosis +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive proximal renal tubular acidosis +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive proximal renal tubular acidosis | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive proximal renal tubular acidosis +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive proximal renal tubular acidosis | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (frameshift variant) | Autosomal recessive proximal renal tubular acidosis | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | 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 (synonymous variant) | Autosomal recessive proximal renal tubular acidosis | |
| | | Single nucleotide variant (synonymous variant) | SLC4A4-related disorder +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Autosomal recessive proximal renal tubular acidosis +1 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 (synonymous variant) | Autosomal recessive proximal renal tubular acidosis +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive proximal renal tubular acidosis | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive proximal renal tubular acidosis | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive proximal renal tubular acidosis | |
| | | Single nucleotide variant (synonymous 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 (missense variant) | Autosomal recessive proximal renal tubular acidosis | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive proximal renal tubular acidosis | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive proximal renal tubular acidosis +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive proximal renal tubular acidosis +1 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive proximal renal tubular acidosis +1 more | |