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Items: 1 to 100 of 138

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GAS2L2
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
GAS2L2
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
GAS2L2
(L867F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS2L2
(P864L)
Single nucleotide variant
(missense variant)
GAS2L2-related disorder
GBenign
GAS2L2
(A850T)
Single nucleotide variant
(missense variant)
GAS2L2-related disorder
GBenign
GAS2L2
(E839K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS2L2
(R829Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
GAS2L2
(R829W)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
GAS2L2
Single nucleotide variant
(synonymous variant)
GAS2L2-related disorder
GLikely benign
GAS2L2
(A827P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS2L2
(G824E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS2L2
Single nucleotide variant
(synonymous variant)
GAS2L2-related disorder
GBenign
GAS2L2
Single nucleotide variant
(synonymous variant)
GAS2L2-related disorder
GLikely benign
GAS2L2
(P810S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS2L2
(R781P)
Single nucleotide variant
(missense variant)
GAS2L2-related disorder
GBenign
GAS2L2
(R781Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS2L2
(R781W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS2L2
(P769L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS2L2
(R763Q)
Single nucleotide variant
(missense variant)
GAS2L2-related disorder
GLikely benign
GAS2L2
(R760del)
Deletion
(inframe_deletion)
not provided
GLikely benign
GAS2L2
Single nucleotide variant
(synonymous variant)
GAS2L2-related disorder
GBenign
GAS2L2
(N747S)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
GAS2L2
(P736L)
Single nucleotide variant
(missense variant)
Ciliary dyskinesia, primary, 41
GUncertain significance
GAS2L2
(P721T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS2L2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GAS2L2
(S708G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS2L2
(A707G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS2L2
(S680F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS2L2
(A672V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS2L2
(L666P)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
GAS2L2
(P663S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS2L2
(A654V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
GAS2L2
(G628E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS2L2
(T625A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS2L2
(G594R)
Single nucleotide variant
(missense variant)
GAS2L2-related disorder
GLikely benign
GAS2L2
(G593C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS2L2
(R586Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
GAS2L2
(W576R)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
GAS2L2
(E574D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS2L2
(M569I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS2L2
(V568L)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
GAS2L2
(E560D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS2L2
(G551R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS2L2
(H550R)
Single nucleotide variant
(missense variant)
GAS2L2-related disorder
GLikely benign
GAS2L2
(H550Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS2L2
Single nucleotide variant
(synonymous variant)
GAS2L2-related disorder
GLikely benign
GAS2L2
(V541I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GAS2L2
Single nucleotide variant
(synonymous variant)
GAS2L2-related disorder
GLikely benign
GAS2L2
(A540T)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
GAS2L2
(P535H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS2L2
(P535S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS2L2
(P535A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS2L2
(D534E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS2L2
(G532E)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
GAS2L2
(L531R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS2L2
(R528S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS2L2
(S524G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS2L2
(P520S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS2L2
(R511L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS2L2
(R511C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS2L2
Single nucleotide variant
(synonymous variant)
GAS2L2-related disorder
GLikely benign
GAS2L2
(R492C)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
GAS2L2
(P488R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS2L2
(A481V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS2L2
(A481T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GAS2L2
(R475W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS2L2
(L470F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS2L2
(E466K)
Single nucleotide variant
(missense variant)
GAS2L2-related disorder
GBenign
GAS2L2
(R460C)
Single nucleotide variant
(missense variant)
GAS2L2-related disorder
GBenign
GAS2L2
Deletion
GAS2L2-related disorder
GUncertain significance
GAS2L2
(S451T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS2L2
(I450M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS2L2
(T447S)
Single nucleotide variant
(missense variant)
Ciliary dyskinesia, primary, 41
GUncertain significance
GAS2L2
(I443T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS2L2
(R441Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
GAS2L2
(G433R)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
GAS2L2
(A432T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS2L2
(D431N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS2L2
Single nucleotide variant
(synonymous variant)
GAS2L2-related disorder
GLikely benign
GAS2L2
(H422Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS2L2
(Y407*)
Single nucleotide variant
(nonsense)
not specified
GUncertain significance
GAS2L2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
GAS2L2
(S399L)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
GAS2L2
(C397G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS2L2
(P395L)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
GAS2L2
(Q390R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS2L2
Single nucleotide variant
(synonymous variant)
GAS2L2-related disorder
GLikely benign
GAS2L2
(W372R)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
GAS2L2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
GAS2L2
(F360L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS2L2
(F360I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS2L2
(A353S)
Single nucleotide variant
(missense variant)
GAS2L2-related disorder
GLikely benign
GAS2L2
(G352E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS2L2
(T351M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS2L2
(R344H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
GAS2L2
(P336S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS2L2
(T327I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAS2L2
(V321A)
Single nucleotide variant
(missense variant)
GAS2L2-related disorder
GLikely benign
GAS2L2
(R313H)
Single nucleotide variant
(missense variant)
Ciliary dyskinesia, primary, 41
+1 more
GUncertain significance
GAS2L2
(V296fs)
Deletion
(frameshift variant)
GAS2L2-related disorder
GUncertain significance
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