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Items: 41

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD8, ACP5
+2135 more
Copy number gain
See cases
GPathogenic
ABHD8, ADGRE2
+695 more
Copy number gain
See cases
GPathogenic
ABHD8, AKAP8
+574 more
Copy number gain
See cases
GPathogenic
LOC130064154, LOC130064155
+625 more
Copy number gain
See cases
GPathogenic
ARRDC2, CCDC124
+85 more
Copy number loss
See cases
GPathogenic
KCNN1
(G22R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KCNN1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
KCNN1
(P34L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KCNN1
(P37L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KCNN1
(P40L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KCNN1
(A47G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KCNN1
(R53Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
KCNN1
(G57S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KCNN1
(R60Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KCNN1
(V119F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KCNN1
(V119I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KCNN1
(A162T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KCNN1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
KCNN1
(R302C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KCNN1
Single nucleotide variant
(intron variant)
not provided
GBenign
KCNN1
(G345V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KCNN1
(L360F +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KCNN1
(R370W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KCNN1
(V378M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KCNN1
(R390Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KCNN1
(H408L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KCNN1
(R410S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KCNN1
(A418S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KCNN1
(A418V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KCNN1
(D456N +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KCNN1
(E474V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KCNN1
(R481H +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KCNN1
(A488V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KCNN1
(P525R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KCNN1
(R530Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KCNN1
(S537L +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CYP4F8, DCAF15
+109 more
Copy number gain
not specified
GUncertain significance
ISYNA1, JAK3
+44 more
Duplication
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GUncertain significance
BST2, NWD1
+158 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
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