| | LOC130000015, LOC130000016 +3658 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC110121192, LOC110121196 +3656 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000067, LOC130000068 +3656 more | Copy number gain | See cases | |
| | GPAT4, GPAT4-AS1 +3106 more | Copy number gain | See cases | |
| | LOC130000897, LOC130000898 +1960 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130000722, LOC130000723 +470 more | Copy number gain | See cases | |
| | ARFGEF1, ARFGEF1-DT +245 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Familial episodic pain syndrome with predominantly upper body involvement +1 more | |
| | | Single nucleotide variant (intron variant) | TRPA1-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | TRPA1-related condition +1 more | |
| | | Single nucleotide variant (intron variant) | Familial episodic pain syndrome with predominantly upper body involvement | |
| | | Single nucleotide variant (intron variant) | Familial episodic pain syndrome with predominantly upper body involvement | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | TRPA1-related condition +1 more | |
| | | Single nucleotide variant (intron variant) | Familial episodic pain syndrome with predominantly upper body involvement | |
| | LOC126860417, MSC-AS1 +1 more (L941I) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126860417, MSC-AS1 +1 more | Single nucleotide variant (synonymous variant) | TRPA1-related condition | |
| | LOC126860417, MSC-AS1 +1 more (R919*) | Single nucleotide variant (nonsense) | not provided | |
| | LOC126860417, MSC-AS1 +1 more (N917S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126860417, MSC-AS1 +1 more | Single nucleotide variant (synonymous variant) | TRPA1-related condition | |
| | LOC126860417, MSC-AS1 +1 more (V861F) | Single nucleotide variant (missense variant) | Familial episodic pain syndrome with predominantly upper body involvement | |
| | LOC126860417, MSC-AS1 +1 more (N855S) | Single nucleotide variant (missense variant) | Familial episodic pain syndrome with predominantly upper body involvement | |
| | | Single nucleotide variant (intron variant) | TRPA1-related condition | |
| | | Single nucleotide variant (nonsense) | not specified | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | TRPA1-related condition | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | TRPA1-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Familial episodic pain syndrome with predominantly upper body involvement | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Familial episodic pain syndrome with predominantly upper body involvement | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | TRPA1-related condition | |
| | | Single nucleotide variant (missense variant) | Familial episodic pain syndrome with predominantly upper body involvement | |
| | | Single nucleotide variant (missense variant) | Familial episodic pain syndrome with predominantly upper body involvement | |
| | | Single nucleotide variant (synonymous variant) | TRPA1-related condition | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | 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 (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | TRPA1-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Familial episodic pain syndrome with predominantly upper body involvement | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | TRPA1-related condition | |
| | | Deletion (non-coding transcript variant +1 more) | Familial episodic pain syndrome with predominantly upper body involvement | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial episodic pain syndrome with predominantly upper body involvement | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial episodic pain syndrome with predominantly upper body involvement | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial episodic pain syndrome with predominantly upper body involvement | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | TRPA1-related condition | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | | Deletion (non-coding transcript variant +1 more) | TRPA1-related condition | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication (intron variant) | TRPA1-related condition | |
| | | Single nucleotide variant (missense variant) | Familial episodic pain syndrome with predominantly upper body involvement | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | TRPA1-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |