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Items: 1 to 100 of 383

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FERRY3, FGD4
+4837 more
Copy number gain
See cases
GPathogenic
LOC130009126, LOC130009127
+906 more
Copy number gain
See cases
GPathogenic
LOC130009192, LOC130009193
+892 more
Copy number gain
See cases
GPathogenic
LOC132090050, LOC132090051
+786 more
Copy number gain
See cases
GPathogenic
LOC130008976, LOC130008977
+264 more
Copy number gain
See cases
GUncertain significance
AACS, ABCB9
+663 more
Copy number gain
See cases
GPathogenic
AACS, ABCB9
+416 more
Copy number loss
See cases
GPathogenic
ANAPC5, B3GNT4
+127 more
Copy number loss
See cases
GPathogenic
AACS, ABCB9
+330 more
Copy number loss
See cases
GPathogenic
ZCCHC8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZCCHC8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZCCHC8
(K466Q +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZCCHC8
(N621I +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZCCHC8
(R459Q +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZCCHC8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZCCHC8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZCCHC8
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ZCCHC8
(S443P +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZCCHC8
(T572M +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZCCHC8
(T569A +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ZCCHC8
(A429V +3 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
ZCCHC8
(K427R +3 more)
Single nucleotide variant
(missense variant)
ZCCHC8-related disorder
GUncertain significance
ZCCHC8
(S426N +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZCCHC8
(M425V +3 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
ZCCHC8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZCCHC8
(K417N +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZCCHC8
(K655R +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZCCHC8
(T416I +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZCCHC8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZCCHC8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZCCHC8
(P551T +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZCCHC8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZCCHC8
(P546S +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZCCHC8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZCCHC8
(N399S +3 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ZCCHC8
(N637I +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZCCHC8
(N394H +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZCCHC8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZCCHC8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZCCHC8
(S529G +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZCCHC8
(G389V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZCCHC8
(N388K +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZCCHC8
(L623F +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZCCHC8
(G522A +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZCCHC8
(E382D +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZCCHC8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZCCHC8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZCCHC8
(P378L +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZCCHC8
(A377V +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZCCHC8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZCCHC8
(E375Q +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZCCHC8
(A513E +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZCCHC8
(E372V +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZCCHC8
(L368F +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZCCHC8
(S367A +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZCCHC8
(S498C +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZCCHC8
(A355S +3 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ZCCHC8
(E354D +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZCCHC8
(K590N +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ZCCHC8
(P584S +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZCCHC8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZCCHC8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZCCHC8
(D480V +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZCCHC8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZCCHC8
(T339M +3 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
ZCCHC8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZCCHC8
(E497K +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZCCHC8
(S474C +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZCCHC8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZCCHC8
(P469L +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZCCHC8
(P328L +3 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
ZCCHC8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZCCHC8
(N323K +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZCCHC8
(N462D +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZCCHC8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZCCHC8
(S318T +3 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
ZCCHC8
(V316I +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZCCHC8
(G452D +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZCCHC8
(G452S +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZCCHC8
(P449S +3 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ZCCHC8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZCCHC8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZCCHC8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZCCHC8
(V444I +3 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
ZCCHC8
(D304N +3 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
ZCCHC8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZCCHC8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZCCHC8
(D302N +3 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
ZCCHC8
(S462G +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZCCHC8
(V299I +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZCCHC8
(V299L +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZCCHC8
(E297G +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZCCHC8
(E297K +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZCCHC8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZCCHC8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZCCHC8
(R449Q +3 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
ZCCHC8
(R288W +3 more)
Single nucleotide variant
(missense variant)
ZCCHC8-related disorder
+1 more
GUncertain significance
LOC130009053, ZCCHC8
(L517P +3 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
LOC130009053, ZCCHC8
(A276T +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LOC130009053, ZCCHC8
(A514S +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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