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Items: 1 to 100 of 1051

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABLIM3, ACSL6
+1672 more
Copy number loss
See cases
GPathogenic
LOC129994992, LOC129994993
+1157 more
Copy number gain
See cases
GPathogenic
ABLIM3, ACSL6
+1218 more
Copy number gain
See cases
GPathogenic
ADAM19, ADAMTS2
+1166 more
Copy number gain
See cases
GPathogenic
FAT2, SLC36A1
(M4348V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAT2, SLC36A1
(C4344Y)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
FAT2, SLC36A1
(D4335N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAT2, SLC36A1
(E4332G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAT2, SLC36A1
(N4330S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAT2, SLC36A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FAT2, SLC36A1
(A4320V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAT2, SLC36A1
(A4320T)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
FAT2, SLC36A1
(V4314E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAT2, SLC36A1
(C4312fs)
Microsatellite
(frameshift variant)
not specified
GUncertain significance
FAT2, SLC36A1
(A4305T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FAT2, SLC36A1
(R4304Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAT2, SLC36A1
(R4304*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
FAT2, SLC36A1
(R4301H)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
FAT2, SLC36A1
(R4301G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAT2, SLC36A1
(M4300T)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia 45
GUncertain significance
FAT2, SLC36A1
(G4294V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FAT2, SLC36A1
(G4293R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAT2, SLC36A1
(C4289Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAT2, SLC36A1
(P4288T)
Indel
(missense variant)
not provided
GUncertain significance
FAT2, SLC36A1
(G4285V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAT2, SLC36A1
(G4285A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
FAT2, SLC36A1
(G4285R)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
FAT2, SLC36A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FAT2, SLC36A1
(R4282W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAT2, SLC36A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FAT2, SLC36A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FAT2, SLC36A1
(C4267fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
FAT2, SLC36A1
(C4267fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
FAT2, SLC36A1
(V4264I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAT2, SLC36A1
(R4262H)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
FAT2, SLC36A1
(R4262C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAT2, SLC36A1
(R4260Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAT2, SLC36A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FAT2, SLC36A1
(R4255Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SLC36A1, FAT2
(R4255W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAT2, SLC36A1
(L4251V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAT2, SLC36A1
(R4242H)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
FAT2, SLC36A1
(R4242C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAT2, SLC36A1
(F4228L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FAT2, SLC36A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FAT2, SLC36A1
(G4221A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAT2, SLC36A1
(M4216T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAT2, SLC36A1
(R4209H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC36A1, FAT2
(R4209C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAT2, SLC36A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FAT2, SLC36A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FAT2, SLC36A1
(P4204L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAT2, SLC36A1
(E4197K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAT2, SLC36A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FAT2, SLC36A1
(V4180L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FAT2, SLC36A1
(M4179T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAT2, SLC36A1
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
FAT2, SLC36A1
Duplication
(intron variant)
not provided
GBenign
FAT2, SLC36A1
Duplication
(intron variant)
not provided
GBenign
FAT2, SLC36A1
Single nucleotide variant
(intron variant)
not provided
GBenign
FAT2, SLC36A1
Single nucleotide variant
(intron variant)
not provided
GBenign
FAT2, SLC36A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FAT2, SLC36A1
Single nucleotide variant
(intron variant)
not provided
GBenign
FAT2, SLC36A1
(M4172T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAT2, SLC36A1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
FAT2, SLC36A1
(K4164R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAT2, SLC36A1
Single nucleotide variant
(synonymous variant)
FAT2-related disorder
GLikely benign
FAT2, SLC36A1
(H4156Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAT2, SLC36A1
(S4155C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
FAT2, SLC36A1
(P4154T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FAT2, SLC36A1
(P4150T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC36A1, FAT2
(R4147T)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
FAT2, SLC36A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FAT2, SLC36A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC36A1, FAT2
(V4140A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAT2, SLC36A1
(R4138Q)
Single nucleotide variant
(missense variant)
not provided
GBenign
FAT2, SLC36A1
(R4138W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
FAT2, SLC36A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FAT2, SLC36A1
(S4123P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAT2, SLC36A1
(P4119L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAT2, SLC36A1
(P4117M)
Indel
(missense variant)
not provided
GUncertain significance
FAT2, SLC36A1
(P4117L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
FAT2, SLC36A1
(P4117T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAT2, SLC36A1
(N4113K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAT2, SLC36A1
(N4113D)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia 45
GUncertain significance
FAT2, SLC36A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FAT2, SLC36A1
(N4112D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
FAT2, SLC36A1
(N4112fs)
Duplication
(frameshift variant)
not provided
GUncertain significance
FAT2, SLC36A1
(A4108V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAT2, SLC36A1
(S4107N)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
FAT2, SLC36A1
(P4105Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAT2, SLC36A1
(E4102K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAT2, SLC36A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FAT2, SLC36A1
(A4100D)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
FAT2, SLC36A1
(T4095A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAT2, SLC36A1
(D4094H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAT2, SLC36A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FAT2, SLC36A1
(A4088T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAT2, SLC36A1
(P4084R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAT2, SLC36A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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