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Items: 1 to 100 of 134

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAMTS14
(C19S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(C19S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(A21T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(A22S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(C44Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(R49W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(R51C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(R84W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(G93E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(R100S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(R120C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(R122Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(G131V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(R141W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(R145Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(R149W)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ADAMTS14
(R149Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ADAMTS14
(M161V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(P162S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ADAMTS14
(A175V)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ADAMTS14
(R209Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(Q214H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ADAMTS14
(D246Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(R249Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(G257D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADAMTS14
(L287F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
Single nucleotide variant
(intron variant)
not provided
GBenign
ADAMTS14
(D292E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(V302A)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ADAMTS14
(R310H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(E324K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(R337C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(A339V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(R361W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADAMTS14
(P371S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(F397I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(A397T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(L407F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(G405S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(A429E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADAMTS14
(S439F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(R443S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(R440C +1 more)
Single nucleotide variant
(missense variant)
Fraser syndrome 3
GUncertain significance
ADAMTS14
(R448H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(C455Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(Q481P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(R483H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(T492N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(C493F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(P513H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(P513L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(P522T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(G532S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ADAMTS14
(C540Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(G550S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(R566Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(E597K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(E607K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(E605K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(R614Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(V626M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(S633N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(E638K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(P639T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(D641N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(A646T +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ADAMTS14
(V667M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(R670H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(V679I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(G692C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(E693K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(V716M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(G721E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(T719M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(I754T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(N758S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(G762R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(G765S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(R776W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(L802P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(P806S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(P815R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(P813A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(P813S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(T814A +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ADAMTS14
(R819C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(R822H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(V830I +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ADAMTS14
(A855T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(G873S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(R898C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(R902W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(R900H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(N902S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS14
(P905L +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
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