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Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARL8B, ARPC4
+281 more
Copy number loss
See cases
GPathogenic
LOC110120630, LOC111429626
+608 more
Copy number gain
See cases
GPathogenic
ARL8B, BHLHE40
+140 more
Copy number loss
See cases
GPathogenic
ARL8B, BHLHE40
+184 more
Copy number loss
See cases
GPathogenic
GRM7
(A29T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GRM7
(R104L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GRM7
Single nucleotide variant
(intron variant)
not provided
GBenign
GRM7
(R190Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
GRM7
(N279K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GRM7
(I295V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
GRM7
(G345R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GRM7
(G345W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GRM7
Single nucleotide variant
(synonymous variant)
not provided
GBenign
GRM7
(P529A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GRM7
(T535P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GRM7
(C548S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GRM7
Single nucleotide variant
(synonymous variant)
not provided
GBenign
GRM7
(I613V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GRM7
(R614C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GRM7
(S656F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GRM7
(R659*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
GRM7
(C770S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
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