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Items: 1 to 100 of 127

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CUL1, CUX1
+4737 more
Copy number loss
See cases
GPathogenic
LOC123956257, LOC123956258
+2213 more
Copy number gain
See cases
GPathogenic
AASS, ABCB8
+1547 more
Copy number gain
See cases
GPathogenic
LOC129999373, LOC129999374
+492 more
Copy number loss
See cases
GPathogenic
AASS, ABCB8
+1380 more
Copy number gain
See cases
GPathogenic
AASS, ARF5
+163 more
Copy number loss
See cases
GPathogenic
ARF5, FSCN3
+60 more
Copy number loss
See cases
GLikely pathogenic
COPG2, COPG2IT1
+342 more
Copy number loss
See cases
GPathogenic
GRM8, LOC126860169
+8 more
Copy number loss
See cases
GPathogenic
GRM8
(F899L)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
GRM8
(K872R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
GRM8
(R852H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GRM8
(R852C +1 more)
Single nucleotide variant
(missense variant +1 more)
Malignant tumor of prostate
GUncertain significance
GRM8
(K837R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GRM8
(L818I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GRM8
(M811R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GRM8
Duplication
(intron variant)
GRM8-related disorder
GBenign
GRM8
(T770M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GRM8
(L758F +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GRM8
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
GRM8
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
GRM8
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
GRM8
(I721M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GRM8
(H515Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GRM8
Single nucleotide variant
(synonymous variant +1 more)
GRM8-related disorder
GLikely benign
GRM8
(P482S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GRM8
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
GRM8
(T465R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GRM8
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
GRM8
(R447Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GRM8
(R651Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GRM8
(M434V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GRM8
(T627M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GRM8
Single nucleotide variant
(synonymous variant +1 more)
GRM8-related disorder
GLikely benign
GRM8
(V624M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GRM8
(G618R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GRM8
(I613M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GRM8
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
GRM8
(R402C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GRM8
(F400L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GRM8
(T394I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GRM8
(R361H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GRM8
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
GRM8
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
GRM8
(L350R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
GRM8
(N545K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GRM8
(G543D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GRM8
(R335C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GRM8
Single nucleotide variant
(synonymous variant +1 more)
GRM8-related disorder
GLikely benign
GRM8
(P314L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GRM8
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
GRM8
(A308V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
GRM8
(P307A +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
GRM8
(W299R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GRM8
Single nucleotide variant
(intron variant)
not provided
GBenign
GRM8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GRM8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GRM8
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
GRM8
(R242W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GRM8
(G234R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GRM8
(M214V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GRM8
(S411T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GRM8
(G195R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GRM8
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
GRM8
Single nucleotide variant
(intron variant)
GRM8-related disorder
GBenign
LOC129999356, LOC129999357
+284 more
Copy number loss
See cases
GPathogenic
GRM8
(I176V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GRM8
(N148D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GRM8
(R143* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
GRM8
(Q115L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GRM8
(H302R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
GRM8
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
GRM8
(M75T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GRM8
(I265T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
GRM8
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
GRM8
(R258K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GRM8
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
GRM8
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
GRM8
(G214R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GRM8
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
GRM8
(A180S)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
GRM8
(M161T)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
GRM8
(V158M)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
GRM8
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
GRM8
(G149C)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
GRM8
(D145N)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
GRM8
(G136R)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
GRM8
(D130E)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
GRM8
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
GRM8
(V120M)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
GRM8
Single nucleotide variant
(synonymous variant +2 more)
not provided
GBenign
GRM8
(Q115K)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
GRM8
(T110I)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
GRM8
(G61E)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
GRM8
(H32Q)
Single nucleotide variant
(missense variant +2 more)
not provided
GBenign
GRM8
(F21C)
Single nucleotide variant
(missense variant +2 more)
not provided
GBenign
GRM8
(T18N)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
GRM8
(S10C)
Single nucleotide variant
(missense variant +2 more)
not provided
GBenign
GRM8
(A9G)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
GRM8
(R7L)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
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