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Items: 93

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLPTM1
Single nucleotide variant
(intron variant +1 more)
CLPTM1-related disorder
GLikely benign
CLPTM1, LOC130064657
(A2V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLPTM1, LOC130064657
Single nucleotide variant
(synonymous variant +1 more)
CLPTM1-related disorder
GLikely benign
CLPTM1, LOC130064657
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CLPTM1, LOC130064657
(V14M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLPTM1, LOC130064657
(G18E)
Single nucleotide variant
(missense variant +1 more)
CLPTM1-related disorder
GUncertain significance
CLPTM1, LOC130064657
(G18A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLPTM1, LOC130064657
(G20D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLPTM1, LOC130064657
(G23D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLPTM1
Single nucleotide variant
(intron variant)
CLPTM1-related disorder
GLikely benign
CLPTM1
(G32R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLPTM1
(P35L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLPTM1
(A37V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLPTM1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
LOC129391127, LOC129391128
+363 more
Copy number gain
See cases
GPathogenic
CLPTM1
Single nucleotide variant
(synonymous variant +1 more)
CLPTM1-related disorder
GLikely benign
CLPTM1
(R60C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLPTM1
(R60H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLPTM1
Single nucleotide variant
(synonymous variant +1 more)
CLPTM1-related disorder
GLikely benign
CLPTM1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
CLPTM1
(G72R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLPTM1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
CLPTM1
Single nucleotide variant
(synonymous variant +1 more)
CLPTM1-related disorder
GLikely benign
CLPTM1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CLPTM1
(N119S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLPTM1
(A106T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLPTM1
(G134S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLPTM1
(E38K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLPTM1
(E133K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLPTM1
(D153N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLPTM1
(I140V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLPTM1
(P141L +2 more)
Single nucleotide variant
(missense variant)
CLPTM1-related disorder
GUncertain significance
CLPTM1
Single nucleotide variant
(intron variant)
CLPTM1-related disorder
GBenign
CLPTM1
(R166W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLPTM1
(R172C +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
CLPTM1
Single nucleotide variant
(synonymous variant)
CLPTM1-related disorder
GLikely benign
CLPTM1
Single nucleotide variant
(synonymous variant)
CLPTM1-related disorder
GLikely benign
CLPTM1
(V132M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLPTM1
(H148Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLPTM1
Single nucleotide variant
(synonymous variant)
CLPTM1-related disorder
GLikely benign
CLPTM1
(I279V +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
CLPTM1
Single nucleotide variant
(synonymous variant)
CLPTM1-related disorder
GLikely benign
CLPTM1
(N193S +2 more)
Single nucleotide variant
(missense variant)
CLPTM1-related disorder
GUncertain significance
CLPTM1
(E282K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLPTM1
Single nucleotide variant
(synonymous variant)
CLPTM1-related disorder
GLikely benign
CLPTM1
Single nucleotide variant
(synonymous variant)
CLPTM1-related disorder
GLikely benign
CLPTM1
(V291I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLPTM1
Single nucleotide variant
(synonymous variant)
CLPTM1-related disorder
GLikely benign
CLPTM1
Single nucleotide variant
(intron variant)
CLPTM1-related disorder
GLikely benign
CLPTM1
Single nucleotide variant
(intron variant)
not provided
GBenign
CLPTM1
(R380L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLPTM1
(F295V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLPTM1
(T313I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLPTM1
(I425T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLPTM1
(L326V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLPTM1
(L326F +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLPTM1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CLPTM1
(T333S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLPTM1
(R339Q +2 more)
Single nucleotide variant
(missense variant)
CLPTM1-related disorder
GLikely benign
CLPTM1
(E343D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLPTM1
(R440C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLPTM1
(D357G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLPTM1
(E451K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLPTM1
(R375W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLPTM1
(Y376C +2 more)
Single nucleotide variant
(missense variant)
CLPTM1-related disorder
GBenign
CLPTM1
Single nucleotide variant
(synonymous variant)
CLPTM1-related disorder
GBenign
CLPTM1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CLPTM1
(G474A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLPTM1
(V390I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLPTM1
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
CLPTM1
Single nucleotide variant
(synonymous variant)
CLPTM1-related disorder
GBenign
CLPTM1
Single nucleotide variant
(intron variant)
CLPTM1-related disorder
GLikely benign
CLPTM1
(Y567C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLPTM1
(R575H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLPTM1
Single nucleotide variant
(synonymous variant)
CLPTM1-related disorder
GLikely benign
CLPTM1
(P591L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLPTM1
(A507T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLPTM1
(V611M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLPTM1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CLPTM1
(E511K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLPTM1
(G605A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLPTM1
Single nucleotide variant
(synonymous variant)
CLPTM1-related disorder
GLikely benign
CLPTM1
(P543R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLPTM1
Single nucleotide variant
(synonymous variant)
CLPTM1-related disorder
GLikely benign
CLPTM1
(A649G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
APOC1, APOC2
+36 more
Copy number gain
not specified
GUncertain significance
C5AR1, C5AR2
+293 more
Copy number gain
not provided
GPathogenic
ZNF607, ZNF780A
+432 more
Copy number gain
not provided
GPathogenic
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
APOC1, APOC2
+39 more
Copy number loss
See cases
GUncertain significance
NECTIN2, APOE
+24 more
Copy number gain
See cases
GUncertain significance
APOC1, APOC2
+120 more
Copy number loss
See cases
GPathogenic
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