| | | Copy number gain | See cases | |
| | LOC126862582, LOC126862583 +1753 more | Copy number gain | See cases | |
| | LOC130060786, LOC130060787 +633 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Duplication | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Severe congenital neutropenia | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | G6PC3-related disorder | |
| | | Single nucleotide variant (missense variant +3 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | | Single nucleotide variant (missense variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | | Single nucleotide variant (missense variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | | Single nucleotide variant (missense variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | | Single nucleotide variant (missense variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | | Single nucleotide variant (missense variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | | Single nucleotide variant (missense variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | | Single nucleotide variant (missense variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | G6PC3, LOC130060959 (A20V) | Single nucleotide variant (missense variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | G6PC3, LOC130060959 (W21*) | Single nucleotide variant (nonsense +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | G6PC3, LOC130060959 (W21*) | Single nucleotide variant (nonsense +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | G6PC3, LOC130060959 (I29T) | Single nucleotide variant (missense variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | G6PC3, LOC130060959 (G33D) | Single nucleotide variant (missense variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | G6PC3, LOC130060959 (D34V) | Single nucleotide variant (5 prime UTR variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | G6PC3, LOC130060959 (K36Q) | Single nucleotide variant (missense variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | G6PC3, LOC130060959 (I37S) | Single nucleotide variant (missense variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | G6PC3, LOC130060959 (Y42N) | Single nucleotide variant (missense variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | G6PC3, LOC130060959 (P44S) | Single nucleotide variant (missense variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency +1 more | GPathogenic/Likely pathogenic |
| | G6PC3, LOC130060959 (P44L) | Single nucleotide variant (missense variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | G6PC3, LOC130060959 (Y47*) | Single nucleotide variant (nonsense +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | G6PC3, LOC130060959 (Y48D) | Single nucleotide variant (missense variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | G6PC3, LOC130060959 (Y48C) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | G6PC3, LOC130060959 (Y48*) | Single nucleotide variant (nonsense +2 more) | not provided +1 more | |
| | G6PC3, LOC130060959 (Y48*) | Single nucleotide variant (nonsense +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | G6PC3, LOC130060959 (A49T) | Single nucleotide variant (missense variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | G6PC3, LOC130060959 (A49V) | Single nucleotide variant (missense variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | G6PC3, LOC130060959 (G54S) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | G6PC3, LOC130060959 (I55fs) | Deletion (frameshift variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | G6PC3, LOC130060959 (A56T) | Single nucleotide variant (missense variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | G6PC3, LOC130060959 (V57M) | Single nucleotide variant (missense variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | G6PC3, LOC130060959 (W59R) | Single nucleotide variant (missense variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency +1 more | |
| | G6PC3, LOC130060959 (S61R) | Single nucleotide variant (missense variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | G6PC3, LOC130060959 (L62F) | Single nucleotide variant (missense variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | G6PC3, LOC130060959 (I63L) | Single nucleotide variant (missense variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency +2 more | GConflicting classifications of pathogenicity |
| | G6PC3, LOC130060959 (I63V) | Single nucleotide variant (5 prime UTR variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | | Deletion (5 prime UTR variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | GConflicting classifications of pathogenicity |
| | G6PC3, LOC130060959 (N68S) | Single nucleotide variant (missense variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | G6PC3, LOC130060959 (I70fs) | Duplication (frameshift variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | | Duplication (inframe_insertion +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | G6PC3, LOC130060959 (F71fs) | Deletion (frameshift variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | G6PC3, LOC130060959 (F71fs) | Deletion (frameshift variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | G6PC3, LOC130060959 (K72fs) | Deletion (frameshift variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | |