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Items: 1 to 100 of 352

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AP4E1, ATP8B4
+190 more
Copy number loss
See cases
GPathogenic
LOC130057143, LOC130057144
+287 more
Copy number loss
See cases
GPathogenic
ARPP19, ATOSA
+176 more
Copy number loss
See cases
GPathogenic
LOC130057077, LOC130057078
+23 more
Copy number loss
not provided
GLikely pathogenic
MYO5A
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
MYO5A
Single nucleotide variant
(3 prime UTR variant)
not specified
GLikely benign
MYO5A
(R1879P +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYO5A
Single nucleotide variant
(synonymous variant)
not specified
GUncertain significance
MYO5A
(S1895T +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYO5A
(S1870G +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYO5A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MYO5A
(A1861T +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO5A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYO5A
(R1782* +5 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
MYO5A
Single nucleotide variant
(intron variant)
not provided
GBenign
MYO5A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYO5A
(S1772L +4 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
MYO5A
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign/Likely benign
MYO5A
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign/Likely benign
MYO5A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYO5A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYO5A
Single nucleotide variant
(intron variant)
Inborn genetic diseases
GUncertain significance
MYO5A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYO5A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYO5A
Single nucleotide variant
(intron variant)
not provided
GBenign
MYO5A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYO5A
(V1689I +4 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
MYO5A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYO5A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYO5A
(V1647D +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYO5A
(S1673L +4 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
MYO5A
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
MYO5A
(D1652N +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYO5A
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
MYO5A
(V1641L +4 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
MYO5A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYO5A
Single nucleotide variant
(synonymous variant)
not specified
GUncertain significance
MYO5A
(T1607M +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO5A
Single nucleotide variant
(intron variant)
not provided
GBenign
MYO5A
Deletion
(intron variant)
not provided
GLikely benign
MYO5A
Single nucleotide variant
(intron variant)
not provided
GBenign
MYO5A
Single nucleotide variant
(intron variant)
not provided
GBenign
MYO5A
Single nucleotide variant
(intron variant)
not provided
GBenign
MYO5A
Single nucleotide variant
(intron variant)
not provided
GBenign
MYO5A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MYO5A
(Y1583F +4 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
MYO5A
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MYO5A
Single nucleotide variant
(intron variant)
not provided
GBenign
MYO5A
Single nucleotide variant
(intron variant)
not provided
GBenign
MYO5A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYO5A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYO5A
(V1554I +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYO5A
Single nucleotide variant
(intron variant)
not provided
GBenign
MYO5A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYO5A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYO5A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYO5A
(P1479A +4 more)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
GUncertain significance
MYO5A
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GUncertain significance
MYO5A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MYO5A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYO5A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYO5A
(P1426S +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
MYO5A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYO5A
(G1471S +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYO5A
Single nucleotide variant
(intron variant)
not provided
GBenign
MYO5A
Single nucleotide variant
(intron variant)
not provided
GBenign
MYO5A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYO5A
(T1398M +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO5A
(T1449A +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYO5A
(Q1391R +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO5A
Deletion
(intron variant +2 more)
Griscelli syndrome type 3
GPathogenic
MYO5A
Single nucleotide variant
(intron variant)
not provided
GBenign
MYO5A
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign/Likely benign
MYO5A
(E1384K +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO5A
(S1400R +2 more)
Single nucleotide variant
(missense variant)
Cerebellar cortical atrophy
+4 more
GPathogenic
MYO5A
(I1397T +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYO5A
(L1362M +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYO5A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYO5A
(R1341H +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO5A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYO5A
Single nucleotide variant
(intron variant)
not provided
GBenign
MYO5A
Single nucleotide variant
(intron variant)
not provided
GBenign
MYO5A
Single nucleotide variant
(intron variant)
not provided
GBenign
MYO5A
Duplication
(intron variant)
not provided
GBenign
MYO5A
(K1343R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MYO5A
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MYO5A
(E1334Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MYO5A
(S1346F +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MYO5A
(R1320S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign
MYO5A
Single nucleotide variant
(intron variant)
not provided
GBenign
MYO5A
Single nucleotide variant
(intron variant)
not provided
GBenign
MYO5A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYO5A
(V1299I +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO5A
Single nucleotide variant
(intron variant)
not provided
GBenign
MYO5A
Duplication
(intron variant)
Griscelli syndrome type 1
+1 more
GBenign
MYO5A
Duplication
(intron variant)
not provided
GBenign
MYO5A
Single nucleotide variant
(intron variant)
not provided
GBenign
MYO5A
Single nucleotide variant
(intron variant)
not provided
GBenign
MYO5A
Single nucleotide variant
(intron variant)
not provided
GBenign
MYO5A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
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