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Links from Gene

Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZDHHC3
(L228F +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZDHHC3
(C167Y +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126806665, ZDHHC3
(V74M)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CDCP1, CLEC3B
+12 more
Copy number gain
not provided
GUncertain significance
EXOSC7, KIF15
+3 more
Copy number loss
not provided
GUncertain significance
LOC126806665, ZDHHC3
(P28R)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LOC126806665, ZDHHC3
(R96Q)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LOC126806665, ZDHHC3
(R71Q)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZDHHC3
(E116K +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126806665, ZDHHC3
(I81V)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LOC126806665, ZDHHC3
(A46T)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NCKIPSD, NDUFAF3
+71 more
Copy number loss
not provided
GPathogenic
CDCP1, CLEC3B
+16 more
Copy number loss
not provided
GUncertain significance
ZDHHC3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
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
LOC126806665, ZDHHC3
(Y29C)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LOC126806665, ZDHHC3
Single nucleotide variant
(synonymous variant +2 more)
not provided
Gnot provided
ZDHHC3
(S206T +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
Gnot provided
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