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Items: 1 to 100 of 416

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ENC1, ERAP1
+690 more
Copy number gain
See cases
GPathogenic
ADGRV1, ARB2A
+435 more
Copy number loss
See cases
GPathogenic
ADGRV1, ALDH7A1
+682 more
Copy number loss
See cases
GPathogenic
LOC129994229, LOC129994230
+688 more
Copy number loss
See cases
GPathogenic
LOC129994369, LOC129994370
+495 more
Copy number loss
See cases
GPathogenic
LOC129994289, LOC129994290
+342 more
Copy number loss
See cases
GPathogenic
TSSK1B, WDR36
+275 more
Copy number gain
See cases
GPathogenic
EPB41L4A-DT, APC
+180 more
Copy number loss
See cases
GPathogenic
EPB41L4A-DT, APC
+134 more
Copy number loss
See cases
GPathogenic
ABLIM3, ACSL6
+1672 more
Copy number loss
See cases
GPathogenic
AP3S1, APC
+230 more
Copy number loss
See cases
GPathogenic
LOC129994389, LOC129994390
+340 more
Copy number loss
See cases
GPathogenic
AP3S1, APC
+186 more
Copy number loss
See cases
GPathogenic
CAMK4, LOC126807474
+32 more
Copy number loss
See cases
GUncertain significance
CAMK4, LOC126807474
+31 more
Copy number gain
See cases
GUncertain significance
LOC129389350, LOC129389351
+377 more
Copy number loss
See cases
GPathogenic
SLC25A46, TMEM232
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
SLC25A46, TMEM232
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC25A46, TMEM232
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC129994343, LOC129994344
+2 more
Indel
(intron variant)
Neuropathy, hereditary motor and sensory, type 6B
GPathogenic
LOC129994343, SLC25A46
Single nucleotide variant
(intron variant)
not provided
GBenign
SLC25A46
Single nucleotide variant
(5 prime UTR variant +2 more)
SLC25A46-related disorder
GLikely benign
SLC25A46
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GUncertain significance
LOC129994345, SLC25A46
Deletion
Neuropathy, hereditary motor and sensory, type 6B
GPathogenic
SLC25A46
(M1I)
Single nucleotide variant
(missense variant +3 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
Single nucleotide variant
(synonymous variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
(R5del)
Microsatellite
(inframe_deletion +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
(R5fs)
Insertion
(frameshift variant +2 more)
not provided
+3 more
GPathogenic
SLC25A46
Single nucleotide variant
(synonymous variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
(R5S)
Single nucleotide variant
(missense variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
(R5L)
Single nucleotide variant
(missense variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
Single nucleotide variant
(synonymous variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
(D7N)
Single nucleotide variant
(missense variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
(G8A)
Single nucleotide variant
(missense variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
(F9Y)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
SLC25A46
(F9S)
Single nucleotide variant
(missense variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
(G11D)
Single nucleotide variant
(missense variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
Single nucleotide variant
(synonymous variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
(Y14*)
Single nucleotide variant
(nonsense +2 more)
Pontocerebellar hypoplasia, type 1E
GPathogenic
SLC25A46
(R15W)
Single nucleotide variant
(missense variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
(R15P)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
SLC25A46
(G16fs)
Deletion
(frameshift variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GPathogenic
SLC25A46
(R15Q)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+2 more
GUncertain significance
SLC25A46
(G16C)
Single nucleotide variant
(missense variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
Single nucleotide variant
(synonymous variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
(G17D)
Single nucleotide variant
(missense variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
(A18S)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+2 more
GLikely benign
SLC25A46
Single nucleotide variant
(synonymous variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
Single nucleotide variant
(synonymous variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
+1 more
GConflicting classifications of pathogenicity
SLC25A46
(R19L)
Single nucleotide variant
(missense variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
(D20V)
Single nucleotide variant
(missense variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
(E21K)
Single nucleotide variant
(missense variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
(E21D)
Single nucleotide variant
(missense variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
Single nucleotide variant
(synonymous variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
Single nucleotide variant
(synonymous variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
Single nucleotide variant
(synonymous variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
+1 more
GLikely benign
SLC25A46
Single nucleotide variant
(synonymous variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
(F28L)
Single nucleotide variant
(missense variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
(R31K)
Single nucleotide variant
(missense variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
(R31S)
Single nucleotide variant
(missense variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
Single nucleotide variant
(synonymous variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
(S34G)
Single nucleotide variant
(missense variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
Single nucleotide variant
(synonymous variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
(G36R)
Single nucleotide variant
(missense variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
(G36R)
Single nucleotide variant
(missense variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
(G36E)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
SLC25A46
Single nucleotide variant
(synonymous variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
(L39P)
Single nucleotide variant
(missense variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
Single nucleotide variant
(synonymous variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
(W42G)
Single nucleotide variant
(missense variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
(V43M)
Single nucleotide variant
(missense variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
(T45I)
Single nucleotide variant
(missense variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
Single nucleotide variant
(synonymous variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
SLC25A46
Single nucleotide variant
(synonymous variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
(I49T)
Single nucleotide variant
(missense variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
Single nucleotide variant
(synonymous variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
Single nucleotide variant
(synonymous variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
+1 more
GBenign
SLC25A46
(P50T)
Single nucleotide variant
(missense variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
+2 more
GUncertain significance
SLC25A46
(R53L)
Single nucleotide variant
(missense variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
(N54H)
Single nucleotide variant
(missense variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
(N54D)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
SLC25A46
(H56fs)
Duplication
(frameshift variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GPathogenic
SLC25A46
Single nucleotide variant
(synonymous variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
(W57R)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
SLC25A46
Single nucleotide variant
(synonymous variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
(K60R)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
SLC25A46
Single nucleotide variant
(synonymous variant +2 more)
SLC25A46-related disorder
GLikely benign
SLC25A46
(P62fs)
Deletion
(frameshift variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GPathogenic
SLC25A46
Single nucleotide variant
(synonymous variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
SLC25A46
Duplication
(inframe_insertion +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
(G65A)
Single nucleotide variant
(missense variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
(V66L)
Single nucleotide variant
(missense variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
Single nucleotide variant
(synonymous variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
SLC25A46
(P67S)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
SLC25A46
(T68I)
Single nucleotide variant
(missense variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
(T68S)
Single nucleotide variant
(non-coding transcript variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
(S70C)
Single nucleotide variant
(missense variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GUncertain significance
SLC25A46
Single nucleotide variant
(synonymous variant +2 more)
Neuropathy, hereditary motor and sensory, type 6B
GLikely benign
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