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Items: 33

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126862863, LOC126862864
+536 more
Copy number gain
See cases
GLikely pathogenic
LOC130063608, LOC130063609
+484 more
Copy number gain
See cases
GPathogenic
ACP5, ANGPTL8
+434 more
Copy number loss
See cases
GPathogenic
ANGPTL8, CCDC159
+52 more
Copy number gain
See cases
GUncertain significance
ABHD8, ACP5
+2135 more
Copy number gain
See cases
GPathogenic
RAB3D, TSPAN16
(M187I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RAB3D, TSPAN16
(R178C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RAB3D, TSPAN16
(E177K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RAB3D
(D156N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB3D
(P146H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB3D
(E142K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB3D
(T118M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB3D
Single nucleotide variant
(intron variant)
not provided
GBenign
RAB3D
(R93W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB3D
(R85H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB3D
(R85C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB3D
(Q74R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB3D
(D58N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB3D
(T48I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB3D
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RAB3D
(R41Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB3D
(R12W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MIR199A1, ODAD3
+87 more
Copy number loss
not specified
GPathogenic
ACP5, ANGPTL8
+68 more
Duplication
not provided
GUncertain significance
ACP5, ANGPTL8
+81 more
Duplication
Charcot-Marie-Tooth disease dominant intermediate B
+4 more
GUncertain significance
ACP5, ANGPTL6
+59 more
Copy number gain
not provided
GUncertain significance
ANGPTL8, C19orf38
+22 more
Copy number loss
See cases
GPathogenic
ZNF653, ZNF69
+63 more
Copy number loss
not provided
Gnot provided
ELOF1, EPOR
+23 more
Copy number gain
not provided
GUncertain significance
ACP5, ANGPTL8
+63 more
Deletion
not provided
Gnot provided
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
ADGRL1, ANGPTL6
+153 more
Copy number gain
See cases
GPathogenic
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