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Links from Gene

Items: 47

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
C15orf40, RAMAC
(N56H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
C15orf40, RAMAC
(P74S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
C15orf40, RAMAC
(W71G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
C15orf40, RAMAC
(K24N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C15orf40, RAMAC
(G116S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
C15orf40, RAMAC
(Y107H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
C15orf40, RAMAC
(N89K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
C15orf40, RAMAC
(W82C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
C15orf40, RAMAC
(N56S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
BTBD1, SCARNA15
+11 more
Copy number loss
not provided
GPathogenic
ADAMTSL3, ALPK3
+19 more
Copy number gain
not provided
GUncertain significance
C15orf40
(K141R)
Single nucleotide variant
(missense variant +2 more)
EBV-positive nodal T- and NK-cell lymphoma
GLikely benign
C15orf40, RAMAC
(D60N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABHD17C, ABHD2
+174 more
Copy number gain
See cases
GPathogenic
AP3S2, ARID3B
+209 more
Copy number gain
not provided
GPathogenic
C15orf40, RAMAC
(R78Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
C15orf40
(C25Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
C15orf40
(R22Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABHD17C, ABHD2
+139 more
Copy number gain
not provided
GPathogenic
CGNL1, MAPDA
+472 more
Duplication
Familial colorectal cancer
+1 more
GUncertain significance
ADAMTSL3, ALPK3
+19 more
Copy number loss
not provided
GPathogenic
ABHD17C, AP3B2
+22 more
Copy number loss
not provided
GPathogenic
ADAMTSL3, AP3B2
+12 more
Copy number loss
not provided
GPathogenic
ADAMTSL3, AP3B2
+14 more
Copy number gain
not provided
GUncertain significance
TM6SF1, WHAMM
+11 more
Copy number loss
not provided
GPathogenic
ABHD17C, ADAMTS7
+49 more
Copy number gain
not provided
GPathogenic
ABHD17C, ABHD2
+143 more
Copy number gain
not provided
GPathogenic
ABHD17C, ABHD2
+215 more
Copy number gain
not provided
GPathogenic
PDIA3, PEAK1
+521 more
Duplication
not provided
GPathogenic
ADAMTSL3, AP3B2
+11 more
Deletion
Primary amenorrhea
GLikely pathogenic
ABHD17C, ABHD2
+153 more
Copy number gain
See cases
GPathogenic
AAGAB, ABHD17C
+559 more
Copy number gain
See cases
GPathogenic
NOX5, NPAP1
+559 more
Copy number gain
See cases
GPathogenic
ADAMTSL3, AP3B2
+12 more
Copy number gain
See cases
GUncertain significance
ADAMTSL3, AP3B2
+11 more
Copy number loss
See cases
GLikely pathogenic
CHRFAM7A, CHRM5
+566 more
Copy number gain
See cases
GPathogenic
ABHD17C, AP3B2
+22 more
Copy number loss
See cases
GPathogenic
ALDH1A2, ALDH1A3
+444 more
Copy number gain
See cases
GPathogenic
WHAMM, CCNB2
+308 more
Copy number gain
not provided
GLikely pathogenic
AAGAB, ABHD17C
+278 more
Copy number gain
See cases
GPathogenic
ADAMTSL3, AP3B2
+11 more
Copy number loss
Premature ovarian failure
GLikely pathogenic
ADAMTSL3, ALPK3
+119 more
Copy number loss
See cases
GLikely pathogenic
LOC116268473, LOC116268474
+1244 more
Copy number gain
See cases
GPathogenic
LOC130057927, LOC130057928
+1764 more
Copy number gain
See cases
GPathogenic
ADAMTSL3, ALPK3
+119 more
Copy number loss
See cases
GLikely pathogenic
LOC130057943, LOC130057944
+664 more
Copy number gain
See cases
GPathogenic
LOC130057773, LOC130057774
+72 more
Copy number gain
See cases
GPathogenic
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