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Items: 60

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTC1, AQR
+219 more
Copy number loss
See cases
GPathogenic
CDIN1, DPH6
+92 more
Copy number loss
See cases
GPathogenic
FSIP1
(K579N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FSIP1, LOC126862111
(E562K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FSIP1, LOC126862111
(P561L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FSIP1, LOC126862111
(L549F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FSIP1, LOC126862111
(P541A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FSIP1, LOC126862111
(F537L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FSIP1, LOC126862111
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FSIP1, LOC126862111
(M493V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FSIP1, LOC126862111
(M493L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FSIP1, LOC126862111
(L484V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FSIP1, LOC126862111
(A478T)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
FSIP1, LOC126862111
(E414A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD63, BMF
+47 more
Copy number gain
See cases
GUncertain significance
FSIP1
(E384D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FSIP1
(H379R)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
FSIP1
(I368L)
Single nucleotide variant
(missense variant)
not provided
GBenign
FSIP1
(M360V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FSIP1
(E357D)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
FSIP1
(R347Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
FSIP1
(D324N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FSIP1
(E322A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FSIP1
(D299Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FSIP1
(M271T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FSIP1
(R257G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FSIP1
(K236N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FSIP1
(K235R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FSIP1
(D223G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FSIP1
(K218N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FSIP1
(N217S)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
FSIP1
(Y209C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FSIP1
(G143V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FSIP1
(E101Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FSIP1
(D88G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FSIP1
(E74K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FSIP1
(D71V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FSIP1
(R66G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FSIP1
(E58K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FSIP1
(G52D)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
FSIP1
(G52A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FSIP1
(D44N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FSIP1
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
FSIP1
(A29P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FSIP1
(R21L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FSIP1
(D9G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EIF2AK4, FAM98B
+7 more
Duplication
not provided
GUncertain significance
ANKRD63, BAHD1
+49 more
Duplication
Mosaic variegated aneuploidy syndrome 1
GUncertain significance
ACTC1, ADAL
+200 more
Copy number gain
not specified
GPathogenic
FSIP1, LINC02694
+3 more
Copy number gain
not provided
GUncertain significance
ACTC1, AQR
+26 more
Copy number loss
15q14 microdeletion syndrome
GPathogenic
CGNL1, MAPDA
+472 more
Duplication
Familial colorectal cancer
+1 more
GUncertain significance
CCDC32, RTF1
+60 more
Complex
Spindle cell sarcoma
GPathogenic
THBS1, EIF2AK4
+22 more
Copy number loss
not provided
GPathogenic
PDIA3, PEAK1
+521 more
Duplication
not provided
GPathogenic
AAGAB, ABHD17C
+559 more
Copy number gain
See cases
GPathogenic
NOX5, NPAP1
+559 more
Copy number gain
See cases
GPathogenic
CDIN1, FAM98B
+8 more
Copy number gain
See cases
GPathogenic
CHRFAM7A, CHRM5
+566 more
Copy number gain
See cases
GPathogenic
BUB1B, EIF2AK4
+5 more
Copy number gain
Breast ductal adenocarcinoma
GUncertain significance
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