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Items: 53

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130063608, LOC130063609
+484 more
Copy number gain
See cases
GPathogenic
ABHD8, ACP5
+2135 more
Copy number gain
See cases
GPathogenic
LOC112543445, LOC112543446
+355 more
Copy number loss
See cases
GPathogenic
LOC129391074, LOC130063625
+351 more
Copy number gain
See cases
GPathogenic
ADGRE2, ADGRE3
+318 more
Copy number loss
See cases
GPathogenic
ADGRE2, ADGRE3
+180 more
Copy number loss
See cases
GPathogenic
ADGRL1, ADGRL1-AS1
+87 more
Copy number loss
See cases
GUncertain significance
DCAF15, PODNL1
(N10S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCAF15, PODNL1
(G14R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCAF15, PODNL1
(G21A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCAF15, PODNL1
(A23G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCAF15
(S95C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCAF15
(A130T +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCAF15
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
DCAF15
(R160H +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCAF15
(A143G +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCAF15
(R178H +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCAF15
(P206L +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCAF15
(A193V +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DCAF15
(R196C +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DCAF15
(R196P +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DCAF15
(S198F +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DCAF15
(A206T +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DCAF15
(K211R +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DCAF15
(R214Q +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DCAF15
(P223S +5 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
DCAF15
(R240C +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DCAF15
(A247V +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DCAF15
(G365E +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DCAF15
(L396P +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DCAF15
(R422C +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DCAF15
(R307H +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DCAF15
(N316S +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DCAF15
(R315Q +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DCAF15
(E316K +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DCAF15
(A352D +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DCAF15
Duplication
(splice donor variant)
not provided
GBenign
DCAF15
(V488I +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DCAF15
(I492L +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DCAF15
(D419H +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCAF15
(R533C +7 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DCAF15
(K561R +7 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DCAF15
(W562R +7 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DCAF15
(V537I +7 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DCAF15
(T584M +7 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP4F8, DCAF15
+109 more
Copy number gain
not specified
GUncertain significance
BEST2, BRME1
+45 more
Copy number loss
not provided
GPathogenic
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
ACP5, ADGRE5
+82 more
Copy number gain
See cases
GUncertain significance
ADGRE5, ADGRL1
+64 more
Copy number loss
See cases
GPathogenic
ADGRE5, ADGRL1
+30 more
Copy number loss
See cases
GLikely pathogenic
ADGRL1, ANGPTL6
+153 more
Copy number gain
See cases
GPathogenic
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