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Items: 1 to 100 of 164

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126860438, LOC126860439
+3663 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3663 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
LOC105379224, LOC105379230
+3657 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
LOC129999966, LOC129999967
+3111 more
Copy number gain
See cases
GPathogenic
LOC126860489, LOC126860490
+1963 more
Copy number gain
See cases
GPathogenic
ADHFE1, ARFGEF1
+421 more
Copy number gain
See cases
GPathogenic
ADHFE1, ARFGEF1
+417 more
Copy number gain
See cases
GPathogenic
ADHFE1, ARFGEF1
+228 more
Copy number loss
See cases
GPathogenic
LOC130000591, LOC130000592
+470 more
Copy number gain
See cases
GPathogenic
ARFGEF1, ARFGEF1-DT
+245 more
Copy number gain
See cases
GPathogenic
C8orf89, ELOC
+78 more
Copy number gain
See cases
GPathogenic
MSC-AS1, TRPA1
(L1117P)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
MSC-AS1, TRPA1
(F1056L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MSC-AS1, TRPA1
(M1042V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MSC-AS1, TRPA1
(Q1031fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
MSC-AS1, TRPA1
(H1018R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
MSC-AS1, TRPA1
Single nucleotide variant
(intron variant)
not provided
GBenign
MSC-AS1, TRPA1
(R996C)
Single nucleotide variant
(missense variant)
not provided
GBenign
MSC-AS1, TRPA1
(W993*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
MSC-AS1, TRPA1
Single nucleotide variant
(intron variant)
Familial episodic pain syndrome with predominantly upper body involvement
+1 more
GBenign
MSC-AS1, TRPA1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
TRPA1, MSC-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign/Likely benign
MSC-AS1, TRPA1
(M978V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MSC-AS1, TRPA1
(V967F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MSC-AS1, TRPA1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MSC-AS1, TRPA1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
LOC126860417, MSC-AS1
+1 more
(L941I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126860417, MSC-AS1
+1 more
Single nucleotide variant
(synonymous variant)
TRPA1-related disorder
GLikely benign
LOC126860417, MSC-AS1
+1 more
(R919*)
Single nucleotide variant
(nonsense)
not provided
GLikely benign
LOC126860417, MSC-AS1
+1 more
(N917S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126860417, MSC-AS1
+1 more
Single nucleotide variant
(synonymous variant)
TRPA1-related disorder
GLikely benign
LOC126860417, MSC-AS1
+1 more
(V861F)
Single nucleotide variant
(missense variant)
Familial episodic pain syndrome with predominantly upper body involvement
GUncertain significance
LOC126860417, MSC-AS1
+1 more
(N855S)
Single nucleotide variant
(missense variant)
Familial episodic pain syndrome with predominantly upper body involvement
GPathogenic
LOC126860417, MSC-AS1
+1 more
(F853C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MSC-AS1, TRPA1
Single nucleotide variant
(intron variant)
TRPA1-related disorder
GLikely benign
MSC-AS1, TRPA1
(Y840*)
Single nucleotide variant
(nonsense)
not specified
GUncertain significance
MSC-AS1, TRPA1
(Y840S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MSC-AS1, TRPA1
Single nucleotide variant
(synonymous variant)
TRPA1-related disorder
GBenign
MSC-AS1, TRPA1
(L830P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MSC-AS1, TRPA1
Single nucleotide variant
(synonymous variant)
TRPA1-related disorder
GBenign
MSC-AS1, TRPA1
(M801V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MSC-AS1, TRPA1
(F800fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
MSC-AS1, TRPA1
(A789V)
Single nucleotide variant
(missense variant)
Familial episodic pain syndrome with predominantly upper body involvement
GUncertain significance
MSC-AS1, TRPA1
(T765M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TRPA1, MSC-AS1
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
MSC-AS1, TRPA1
(G750D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MSC-AS1, TRPA1
(M733V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MSC-AS1, TRPA1
(P732A)
Single nucleotide variant
(missense variant)
Familial episodic pain syndrome with predominantly upper body involvement
GUncertain significance
MSC-AS1, TRPA1
(L730F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MSC-AS1, TRPA1
Single nucleotide variant
(synonymous variant)
TRPA1-related disorder
GLikely benign
MSC-AS1, TRPA1
(N692H)
Single nucleotide variant
(missense variant)
Familial episodic pain syndrome with predominantly upper body involvement
GUncertain significance
MSC-AS1, TRPA1
(M689V)
Single nucleotide variant
(missense variant)
Familial episodic pain syndrome with predominantly upper body involvement
GUncertain significance
MSC-AS1, TRPA1
Single nucleotide variant
(synonymous variant)
TRPA1-related disorder
GLikely benign
MSC-AS1, TRPA1
(P682S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MSC-AS1, TRPA1
(I679T)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
MSC-AS1, TRPA1
(P674S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MSC-AS1, TRPA1
(L663H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MSC-AS1, TRPA1
(E657K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MSC-AS1, TRPA1
(I656M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MSC-AS1, TRPA1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MSC-AS1, TRPA1
(R652*)
Single nucleotide variant
(nonsense)
not provided
GLikely benign
MSC-AS1, TRPA1
(C651F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MSC-AS1, TRPA1
(T646R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MSC-AS1, TRPA1
Single nucleotide variant
(synonymous variant)
TRPA1-related disorder
GLikely benign
MSC-AS1, TRPA1
(L637I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MSC-AS1, TRPA1
Single nucleotide variant
(intron variant)
Familial episodic pain syndrome with predominantly upper body involvement
+1 more
GBenign
MSC-AS1, TRPA1
(I627V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
MSC-AS1, TRPA1
(M626I)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
MSC-AS1, TRPA1
(K620fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
MSC-AS1, TRPA1
(K620N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MSC-AS1, TRPA1
(K620R)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
MSC-AS1, TRPA1
Single nucleotide variant
(intron variant)
TRPA1-related disorder
GBenign
MSC-AS1, TRPA1
(S582fs)
Deletion
(non-coding transcript variant +1 more)
Familial episodic pain syndrome with predominantly upper body involvement
GUncertain significance
MSC-AS1, TRPA1
(N577D)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
MSC-AS1, TRPA1
(N571K)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
MSC-AS1, TRPA1
(A565V)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
MSC-AS1, TRPA1
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial episodic pain syndrome with predominantly upper body involvement
+1 more
GBenign
MSC-AS1, TRPA1
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial episodic pain syndrome with predominantly upper body involvement
+1 more
GBenign
MSC-AS1, TRPA1
(G525R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
MSC-AS1, TRPA1
(A521V)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
MSC-AS1, TRPA1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
MSC-AS1, TRPA1
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial episodic pain syndrome with predominantly upper body involvement
+1 more
GBenign
MSC-AS1, TRPA1
(K504R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
MSC-AS1, TRPA1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
MSC-AS1, TRPA1
(L480H)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
MSC-AS1, TRPA1
(L480F)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
MSC-AS1, TRPA1
Single nucleotide variant
(non-coding transcript variant +1 more)
TRPA1-related disorder
GLikely benign
MSC-AS1, TRPA1
(T472M)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
MSC-AS1, TRPA1
(I469V)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
MSC-AS1, TRPA1
(D468E)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
MSC-AS1, TRPA1
(L465I)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
MSC-AS1, TRPA1
(R458C)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
MSC-AS1, TRPA1
(G425S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
MSC-AS1, TRPA1
(Y419*)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
MSC-AS1, TRPA1
(D412N)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
MSC-AS1, TRPA1
Deletion
(non-coding transcript variant +1 more)
TRPA1-related disorder
GBenign
TRPA1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TRPA1
(M397R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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