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Items: 1 to 100 of 629

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNV2
(K3fs)
Deletion
(frameshift variant)
Retinal dystrophy
+1 more
GPathogenic
KCNV2
(Q4E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNV2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNV2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNV2
(E6Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
KCNV2
(R7fs)
Microsatellite
(frameshift variant)
Retinal dystrophy
+1 more
GPathogenic
KCNV2
(R7T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNV2
(R7K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNV2
(R7S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNV2
(R9W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNV2
(R9Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNV2
(S10C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNV2
(S10F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNV2
(S12T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNV2
(Y13C)
Single nucleotide variant
(missense variant)
Cone dystrophy with supernormal rod response
+1 more
GUncertain significance
KCNV2
(Y13*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
KCNV2
(R14K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
KCNV2
(P15L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNV2
(W16L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNV2
(W16C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
KCNV2
(N17K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNV2
(T19M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNV2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNV2
(E20K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
KCNV2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNV2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNV2
(Q25H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNV2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNV2
(R27H)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+3 more
GConflicting classifications of pathogenicity
KCNV2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNV2
(S29G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
KCNV2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNV2
(C31Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNV2
(S32A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNV2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KCNV2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNV2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNV2
(R36H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNV2
(Q40E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNV2
(A41T)
Single nucleotide variant
(missense variant)
Cone dystrophy with supernormal rod response
+1 more
GConflicting classifications of pathogenicity
KCNV2
(S42T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNV2
(I43Y)
Indel
(missense variant)
not provided
GUncertain significance
KCNV2
(H44Y)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KCNV2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KCNV2
(G45S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNV2
(W46R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KCNV2
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
KCNV2
(G49S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KCNV2
(G49D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNV2
(N50D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNV2
(N50H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNV2
(N50S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNV2
(N50K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNV2
(Y51C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNV2
(Y51*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
KCNV2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNV2
(Y54H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNV2
(I55T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNV2
(E56K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNV2
(E56D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNV2
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
KCNV2
(E57A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNV2
(D60H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNV2
Insertion
(inframe_insertion)
not provided
GUncertain significance
KCNV2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KCNV2
Insertion
(inframe_insertion)
not provided
GUncertain significance
KCNV2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNV2
(E62K)
Indel
(missense variant)
not provided
GUncertain significance
KCNV2
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
KCNV2
(E62K)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
KCNV2
(E64del)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
KCNV2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNV2
(E64K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNV2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNV2
(E64D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNV2
(D65Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNV2
(D65N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNV2
(Q66*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
KCNV2
(W67R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNV2
(W67G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNV2
(W67R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
KCNV2
(W67C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
KCNV2
(K68Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNV2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
KCNV2
(D70Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNV2
(L71M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNV2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNV2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNV2
(A72S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNV2
(E74Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNV2
(E74K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KCNV2
(E74D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNV2
(D75G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNV2
(Q76*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
KCNV2
(Q77P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNV2
(E80D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNV2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNV2
(V81I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNV2
(T82I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
KCNV2
(T83I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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