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Items: 1 to 100 of 114

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALS2CL, AMIGO3
+379 more
Copy number gain
See cases
GPathogenic
SCAP
(V1015M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SCAP
(I994M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SCAP
(N1212S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(G1201D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SCAP
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SCAP
(T914N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(V1153L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(R896W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(V891I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(Y870C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(V869M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(T867M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SCAP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SCAP
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SCAP
(D1108N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(T1100I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(T1083I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(A811V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(A1067T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(G796S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(R1051Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(A783V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(G1027S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(G1027C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(L769P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(K1018E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(A1012T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(S986I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(E693K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(P684L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(P684S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(P938A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(S681L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(R678S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(V928I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(A926V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(G668V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(E667K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(R918Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(R647C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(R898Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(R898W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(R896W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(T618A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(P602L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(P858S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(S582P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(R580P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(R563C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(R811C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(G806R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(G519S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(A761V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SCAP
(G484R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(L467F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(A458V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(A457V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(P686A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(P684S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(R421H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(V399I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
Single nucleotide variant
(intron variant)
not provided
GBenign
SCAP
(T635M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(R376C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(R345H +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SCAP
(R345C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(S342T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(S338L +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SCAP
(Q591H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(P333L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(P320S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SCAP
(V308A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(R250H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(P237L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(T489A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(A224V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(A224T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(R221Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
SCAP
(E220K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(P216S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(V373A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(P86A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(L333F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(S71L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCAP
(R254H)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
SCAP
(F240L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SCAP
(T235A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SCAP
(H198Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SCAP
(H198L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SCAP
(H186R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SCAP
(Q179H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SCAP
(S142N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SCAP
(V114L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
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