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Items: 19

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLEC3B
(C11Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLEC3B
(E22K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLEC3B
(G74E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLEC3B
(Q81H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLEC3B
(V125L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLEC3B
(E130K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLEC3B
(E141K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLEC3B
(A111S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLEC3B
(T120I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLEC3B
(A180D +1 more)
Single nucleotide variant
(missense variant)
Macular dystrophy, retinal, 4
GPathogenic
CLEC3B
(K187N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLEC3B
(V160M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDCP1, CLEC3B
+12 more
Copy number gain
not provided
GUncertain significance
NCKIPSD, NDUFAF3
+71 more
Copy number loss
not provided
GPathogenic
CDCP1, CLEC3B
+16 more
Copy number loss
not provided
GUncertain significance
ABHD5, ACAA1
+135 more
Copy number gain
not provided
GPathogenic
HHLA2, HIGD1A
+1054 more
Copy number gain
See cases
GPathogenic
A4GNT, AADAC
+1054 more
Copy number gain
See cases
GPathogenic
ABHD5, ACAA1
+177 more
Copy number gain
See cases
GLikely pathogenic
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