| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | GINS1, LOC130065587 (A23T) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | GINS1, LOC130065587 (R15S) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | GINS1, LOC130065587 (N25D) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | GINS1, LOC130065587 (G19E) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | GINS1, LOC130065587 (I10S) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | GINS1, LOC130065587 (E18fs) | Indel (frameshift variant +1 more) | Combined immunodeficiency due to GINS1 deficiency | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Combined immunodeficiency due to GINS1 deficiency | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
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