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Links from Gene

Items: 40

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZKSCAN8
(I222M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZKSCAN8
(E403K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZKSCAN8
(R196H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZKSCAN8
(V154E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZKSCAN8
(R73W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZKSCAN8
(G291R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZKSCAN8
(E45A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZKSCAN8
(V144L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZKSCAN8
(I135T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZKSCAN8
(S483G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZKSCAN8
(N409S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZKSCAN8
(K404R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZKSCAN8
(I399S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZKSCAN8
(L72P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZKSCAN8
(S287G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZKSCAN8
(Q210H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZKSCAN8
(G119R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZKSCAN8
(I268V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZKSCAN8
(R58G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZKSCAN8
(A171D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZKSCAN8
(P14S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZKSCAN8
(R313Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZKSCAN8
(E387K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZKSCAN8
(L290V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZKSCAN8
(S42N)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ZKSCAN8
(R51H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZKSCAN8
(K187Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZKSCAN8
(V144I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZKSCAN8
(N341S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZKSCAN8
(E120Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZKSCAN8
(S560G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZKSCAN8
(Q370R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZKSCAN8
(K334E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZKSCAN8
(C193R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCF1, ABHD16A
+106 more
Deletion
Megacolon
GLikely pathogenic
AARS2, ABCC10
+1028 more
Copy number gain
See cases
GPathogenic
RING1, RIOK1
+1028 more
Copy number gain
See cases
GPathogenic
ILRUN-AS1, IP6K3
+2582 more
Copy number gain
See cases
GPathogenic
ABCF1, ABT1
+1340 more
Copy number gain
See cases
GPathogenic
ABT1, BTN1A1
+344 more
Copy number gain
See cases
GUncertain significance
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