| | LOC126860438, LOC126860439 +3663 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC105379224, LOC105379230 +3657 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129999966, LOC129999967 +3111 more | Copy number gain | See cases | |
| | LOC126860489, LOC126860490 +1963 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000591, LOC130000592 +470 more | Copy number gain | See cases | |
| | ARFGEF1, ARFGEF1-DT +245 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Deletion | Charcot-Marie-Tooth disease axonal type 2K | |
| | LOC130000646, LOC130000647 +191 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Duplication | Charcot-Marie-Tooth disease type 4A | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Duplication | not provided | |
| | | Duplication | not provided | |
| | | Duplication | not provided | |
| | | Duplication | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Deletion | Charcot-Marie-Tooth disease type 4A | |
| | | Deletion (5 prime UTR variant) | Charcot-Marie-Tooth with Vocal Cord Paresis +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Charcot-Marie-Tooth disease type 4A | |
| | GDAP1, LOC130000622 (M1fs) | Deletion (5 prime UTR variant +2 more) | Charcot-Marie-Tooth disease type 4A | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Charcot-Marie-Tooth disease +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4A | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4A | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Charcot-Marie-Tooth disease type 4A | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Charcot-Marie-Tooth disease type 4A | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Charcot-Marie-Tooth disease type 4A | |
| | GDAP1, LOC130000622 (G10fs) | Microsatellite (5 prime UTR variant +2 more) | Charcot-Marie-Tooth disease type 4A | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Charcot-Marie-Tooth disease type 4A +1 more | |
| | GDAP1, LOC130000622 (G10R) | Single nucleotide variant (5 prime UTR variant +2 more) | Charcot-Marie-Tooth disease | |
| | GDAP1, LOC130000622 (S11R) | Single nucleotide variant (5 prime UTR variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | GDAP1, LOC130000622 (P13S) | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Charcot-Marie-Tooth disease type 4A | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Charcot-Marie-Tooth disease type 4A | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Charcot-Marie-Tooth disease type 4A | |
| | GDAP1, LOC130000622 (K19E) | Single nucleotide variant (5 prime UTR variant +2 more) | Inborn genetic diseases +2 more | |
| | GDAP1, LOC130000622 (A20T) | Single nucleotide variant (5 prime UTR variant +2 more) | Charcot-Marie-Tooth disease type 4A +1 more | |
| | GDAP1, LOC130000622 (D21N) | Single nucleotide variant (5 prime UTR variant +2 more) | Inborn genetic diseases +1 more | |
| | GDAP1, LOC130000622 (D21fs) | Deletion (5 prime UTR variant +2 more) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | GDAP1, LOC130000622 (A22V) | Single nucleotide variant (5 prime UTR variant +2 more) | Charcot-Marie-Tooth disease type 4A | |
| | GDAP1, LOC130000622 (A22G) | Single nucleotide variant (5 prime UTR variant +2 more) | Charcot-Marie-Tooth disease type 4A | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Charcot-Marie-Tooth disease type 4A | |
| | GDAP1, LOC130000622 (V24F) | Single nucleotide variant (5 prime UTR variant +2 more) | Charcot-Marie-Tooth disease type 4A | |
| | | Single nucleotide variant (synonymous variant +2 more) | Charcot-Marie-Tooth disease type 4A | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Charcot-Marie-Tooth disease +1 more | |
| | GDAP1, LOC130000622 (L26P) | Single nucleotide variant (5 prime UTR variant +2 more) | Charcot-Marie-Tooth disease type 4A | |
| | GDAP1, LOC130000622 (Y29D) | Single nucleotide variant (5 prime UTR variant +2 more) | Charcot-Marie-Tooth disease type 4A | |
| | GDAP1, LOC130000622 (Y29S) | Single nucleotide variant (5 prime UTR variant +2 more) | Charcot-Marie-Tooth disease type 4A | |
| | LOC130000622, GDAP1 (H30L) | Single nucleotide variant (5 prime UTR variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Charcot-Marie-Tooth disease type 4A +3 more | |
| | GDAP1, LOC130000622 (W31*) | Single nucleotide variant (5 prime UTR variant +2 more) | Charcot-Marie-Tooth disease type 4A | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Charcot-Marie-Tooth disease type 4A | |
| | LOC130000622, GDAP1 (H33Y) | Single nucleotide variant (5 prime UTR variant +2 more) | Charcot-Marie-Tooth disease type 4A +1 more | |
| | GDAP1, LOC130000622 (S34fs) | Duplication (5 prime UTR variant +2 more) | Charcot-Marie-Tooth disease axonal type 2K +1 more | |
| | GDAP1, LOC130000622 (S34C) | Single nucleotide variant (5 prime UTR variant +2 more) | Autosomal dominant Charcot-Marie-Tooth disease type 2K +1 more | |
| | | Variation (no sequence alteration +1 more) | Charcot-Marie-Tooth disease type 4A | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Charcot-Marie-Tooth disease type 4A | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Charcot-Marie-Tooth disease type 4A | |
| | GDAP1, LOC130000622 (S36R) | Single nucleotide variant (5 prime UTR variant +2 more) | Charcot-Marie-Tooth disease type 4A | |
| | GDAP1, LOC130000622 (S36R) | Single nucleotide variant (5 prime UTR variant +2 more) | Charcot-Marie-Tooth disease type 4A | |
| | GDAP1, LOC130000622 (S37T) | Single nucleotide variant (5 prime UTR variant +2 more) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Charcot-Marie-Tooth disease type 4A | |
| | GDAP1, LOC130000622 (Q38*) | Single nucleotide variant (5 prime UTR variant +2 more) | Charcot-Marie-Tooth disease type 4A +1 more | GPathogenic/Likely pathogenic |
| | GDAP1, LOC130000622 (Q38R) | Single nucleotide variant (missense variant +2 more) | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | |
| | GDAP1, LOC130000622 (K39fs) | Deletion (5 prime UTR variant +2 more) | Charcot-Marie-Tooth disease type 4A | |
| | GDAP1, LOC130000622 (K39R) | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | GDAP1, LOC130000622 (K39N) | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (splice donor variant +1 more) | Charcot-Marie-Tooth disease type 4A | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 4A | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 4A | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease +2 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 4A | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease axonal type 2K +5 more | |
| | | 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) | Charcot-Marie-Tooth disease +1 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 4A | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 4A | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 4A | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 4A | |
| | | Deletion (intron variant) | not provided | |