U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 371

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130008916, LOC130008917
+4836 more
Copy number gain
See cases
GPathogenic
TRD-GTC2-10, TRD-GTC2-9
+906 more
Copy number gain
See cases
GPathogenic
AACS, ABCB9
+892 more
Copy number gain
See cases
GPathogenic
HNF1A, HNF1A-AS1
+786 more
Copy number gain
See cases
GPathogenic
CFAP251, CIT
+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 provided
+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)
ZCCHC8-related disorder
+1 more
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
+1 more
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
+1 more
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)
ZCCHC8-related disorder
+1 more
GConflicting classifications of pathogenicity
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
(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
+1 more
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 specified
+2 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 provided
+1 more
GConflicting classifications of pathogenicity
ZCCHC8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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 provided
+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
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZCCHC8
(S318T +3 more)
Single nucleotide variant
(missense variant)
not provided
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
+1 more
GConflicting classifications of pathogenicity
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 provided
+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 provided
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
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
GUncertain significance
LOC130009053, ZCCHC8
(A514S +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC130009053, ZCCHC8
(D513E +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC130009053, ZCCHC8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC130009053, ZCCHC8
(V272A +3 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
Format
Items per page
Sort by
Choose Destination