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Items: 43

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
ACP5, BEST2
+261 more
Copy number loss
See cases
GPathogenic
LOC112543445, LOC112543446
+355 more
Copy number loss
See cases
GPathogenic
CNN1
(H5Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CNN1
(E17K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CNN1
(R30W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CNN1
(R30Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CNN1
(G3C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNN1
(D104N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNN1
(D104V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNN1
(I105V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNN1
(K87M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNN1
(P104Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNN1
(T120N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNN1
(K172N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNN1
(T130M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNN1
(R135W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNN1
(R135Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNN1
(R136C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNN1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CNN1
(N192S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNN1
(V193I +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CNN1
(L195Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNN1
(G207D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNN1
(Y218C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNN1
(H239D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNN1
(Y244H +1 more)
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
ACP5, ADGRE5
+82 more
Copy number gain
See cases
GUncertain significance
ADGRL1, ANGPTL6
+153 more
Copy number gain
See cases
GPathogenic
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