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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126862060, LOC126862061
+3282 more
Copy number gain
See cases
GPathogenic
LOC125048449, LOC125048450
+3277 more
Copy number gain
See cases
GPathogenic
SAMD15, SEL1L
+503 more
Copy number loss
See cases
GPathogenic
LOC111811966, LOC121529652
+48 more
Copy number gain
See cases
GUncertain significance
MAP3K9, MAP3K9-DT
(G124S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAP3K9, MAP3K9-DT
(R120H)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
MAP3K9, MAP3K9-DT
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
MAP3K9, MAP3K9-DT
(A65S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
MAP3K9, MAP3K9-DT
(E36A)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC130056003, MAP3K9
+1 more
(G26R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130056003, MAP3K9
+1 more
(G21W)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC130056003, MAP3K9
+1 more
(P19Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC130056003, MAP3K9
+1 more
(C10S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
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