| | LOC126862863, LOC126862864 +536 more | Copy number gain | See cases | |
| | LOC130063608, LOC130063609 +484 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC112543445, LOC112543446 +355 more | Copy number loss | See cases | |
| | LOC129391074, LOC130063625 +351 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | GCDH, LOC126862860 +1 more | Deletion (intron variant) | Glutaric aciduria, type 1 | |
| | GCDH, LOC126862860 +1 more | Single nucleotide variant (intron variant) | Glutaric aciduria, type 1 | |
| | GCDH, LOC126862860 +1 more | Single nucleotide variant (intron variant) | Glutaric aciduria, type 1 | |
| | GCDH, LOC126862860 +1 more | Single nucleotide variant (intron variant) | Glutaric aciduria, type 1 | GConflicting classifications of pathogenicity |
| | GCDH, LOC126862860 +1 more | Single nucleotide variant (intron variant) | Glutaric aciduria, type 1 | |
| | LOC126862860, SYCE2 +1 more | Single nucleotide variant (intron variant) | Glutaric aciduria, type 1 | |
| | GCDH, LOC126862860 +1 more | Single nucleotide variant (intron variant) | Glutaric aciduria, type 1 | |
| | GCDH, LOC126862860 +1 more | Single nucleotide variant (intron variant) | Glutaric aciduria, type 1 | |
| | GCDH, LOC126862860 +1 more | Single nucleotide variant (intron variant) | Glutaric aciduria, type 1 | |
| | GCDH, LOC126862860 +1 more | Single nucleotide variant (intron variant) | Glutaric aciduria, type 1 | |
| | GCDH, LOC126862860 +1 more | Single nucleotide variant (splice acceptor variant +1 more) | Glutaric aciduria, type 1 | GPathogenic/Likely pathogenic |
| | GCDH, LOC126862860 +1 more | Single nucleotide variant (splice acceptor variant +1 more) | not provided +1 more | |
| | GCDH, LOC126862860 +1 more | Single nucleotide variant (splice acceptor variant +1 more) | Glutaric aciduria, type 1 | |
| | GCDH, LOC126862860 +1 more (T416I) | Single nucleotide variant (missense variant +2 more) | Glutaric aciduria, type 1 | |
| | GCDH, LOC126862860 +1 more (H417Y) | Single nucleotide variant (missense variant +2 more) | Glutaric aciduria, type 1 | |
| | GCDH, LOC126862860 +1 more (H417D) | Single nucleotide variant (missense variant +2 more) | Glutaric aciduria, type 1 | |
| | GCDH, LOC126862860 +1 more | Single nucleotide variant (synonymous variant +2 more) | Glutaric aciduria, type 1 | |
| | GCDH, LOC126862860 +1 more | Single nucleotide variant (synonymous variant +2 more) | Glutaric aciduria, type 1 | |
| | GCDH, LOC126862860 +1 more | Single nucleotide variant (synonymous variant +2 more) | Glutaric aciduria, type 1 | |
| | GCDH, LOC126862860 +1 more (A421T) | Single nucleotide variant (intron variant +2 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | GCDH, LOC126862860 +1 more (A421V) | Single nucleotide variant (missense variant +2 more) | Glutaric aciduria, type 1 +1 more | |
| | GCDH, LOC126862860 +1 more | Single nucleotide variant (synonymous variant +2 more) | Glutaric aciduria, type 1 | |
| | GCDH, LOC126862860 +1 more | Single nucleotide variant (synonymous variant +2 more) | Glutaric aciduria, type 1 | |
| | GCDH, LOC126862860 +1 more (G425V) | Single nucleotide variant (missense variant +2 more) | Glutaric aciduria, type 1 | |
| | GCDH, LOC126862860 +1 more (G425E) | Single nucleotide variant (missense variant +2 more) | Glutaric aciduria, type 1 | |
| | GCDH, LOC126862860 +1 more | Single nucleotide variant (synonymous variant +2 more) | Glutaric aciduria, type 1 | |
| | GCDH, LOC126862860 +1 more | Single nucleotide variant (synonymous variant +2 more) | Glutaric aciduria, type 1 | |
| | SYCE2, GCDH +1 more (T429M) | Single nucleotide variant (missense variant +2 more) | Glutaric aciduria, type 1 | GConflicting classifications of pathogenicity |
| | GCDH, LOC126862860 +1 more | Single nucleotide variant (synonymous variant +2 more) | Inborn genetic diseases +1 more | |
| | GCDH, LOC126862860 +1 more | Single nucleotide variant (synonymous variant +2 more) | Glutaric aciduria, type 1 +1 more | |
| | GCDH, LOC126862860 +1 more | Single nucleotide variant (synonymous variant +2 more) | Glutaric aciduria, type 1 | |
| | GCDH, LOC126862860 +1 more (A433E) | Single nucleotide variant (missense variant +2 more) | Glutaric aciduria, type 1 | GPathogenic/Likely pathogenic |
| | GCDH, LOC126862860 +1 more (A433V) | Single nucleotide variant (missense variant +2 more) | Glutaric aciduria, type 1 | GPathogenic/Likely pathogenic |
| | GCDH, LOC126862860 +1 more | Single nucleotide variant (synonymous variant +2 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | GCDH, LOC126862860 +1 more | Single nucleotide variant (synonymous variant +2 more) | Glutaric aciduria, type 1 | |
| | GCDH, LOC126862860 +1 more | Single nucleotide variant (synonymous variant +2 more) | not provided +1 more | |
| | GCDH, LOC126862860 +1 more | Duplication (frameshift variant +3 more) | Glutaric aciduria, type 1 | |
| | GCDH, LOC126862860 +1 more | Single nucleotide variant (stop lost +2 more) | Glutaric aciduria, type 1 | |
| | GCDH, LOC126862860 +1 more | Single nucleotide variant (stop lost +2 more) | Glutaric aciduria, type 1 | |
| | GCDH, LOC126862860 +1 more | Single nucleotide variant (3 prime UTR variant +2 more) | Glutaric aciduria, type 1 | |
| | GCDH, LOC126862860 +1 more | Single nucleotide variant (3 prime UTR variant +2 more) | Glutaric aciduria, type 1 | |
| | GCDH, LOC126862860 +1 more | Single nucleotide variant (3 prime UTR variant +2 more) | Glutaric aciduria, type 1 | |
| | GCDH, LOC126862860 +1 more | Single nucleotide variant (non-coding transcript variant +2 more) | Glutaric aciduria, type 1 | |
| | GCDH, LOC126862860 +1 more (V416I) | Single nucleotide variant (3 prime UTR variant +3 more) | not provided | |
| | SYCE2, GCDH +1 more (Q417R) | Single nucleotide variant (3 prime UTR variant +3 more) | Glutaric aciduria, type 1 +2 more | |
| | GCDH, LOC126862860 +1 more (R424del) | Microsatellite (3 prime UTR variant +3 more) | Glutaric aciduria, type 1 | |
| | GCDH, LOC126862860 +1 more | Single nucleotide variant (3 prime UTR variant +3 more) | Glutaric aciduria, type 1 | |
| | LOC126862860, SYCE2 +1 more | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | GCDH, LOC126862860 +1 more | Single nucleotide variant (3 prime UTR variant +2 more) | not provided +2 more | |
| | GCDH, LOC126862860 +1 more | Single nucleotide variant (3 prime UTR variant +2 more) | Glutaric aciduria, type 1 | |
| | GCDH, LOC126862860 +1 more | Single nucleotide variant (3 prime UTR variant +2 more) | Glutaric aciduria, type 1 | |
| | GCDH, LOC126862860 +1 more | Single nucleotide variant (3 prime UTR variant +2 more) | Glutaric aciduria, type 1 | |
| | GCDH, LOC126862860 +1 more | Single nucleotide variant (3 prime UTR variant +2 more) | Glutaric aciduria, type 1 | |
| | LOC126862860, SYCE2 (T202I) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126862860, SYCE2 (T202A) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126862860, SYCE2 (S197F) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126862860, SYCE2 (G186S) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC126862860, SYCE2 (R184C) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126862860, SYCE2 (P182L) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126862860, SYCE2 (K180T) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126862860, SYCE2 (V153M) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication | Episodic ataxia type 2 +1 more | |
| | | Deletion | Episodic ataxia type 2 +1 more | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not provided | |
| | | Duplication | Aicardi-Goutieres syndrome 4 | |
| | | Duplication | not provided | |
| | | Duplication | Charcot-Marie-Tooth disease dominant intermediate B +4 more | |
| | | Deletion | not provided | |
| | | Deletion | Developmental and epileptic encephalopathy, 42 +3 more | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | PGLYRP1, PGLYRP2 +1364 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |