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Items: 1 to 100 of 163

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130057927, LOC130057928
+1764 more
Copy number gain
See cases
GPathogenic
ADPGK, ADPGK-AS1
+197 more
Copy number loss
See cases
GPathogenic
ACSBG1, ADPGK
+487 more
Copy number loss
See cases
GPathogenic
LOC116268473, LOC116268474
+1244 more
Copy number gain
See cases
GPathogenic
ADPGK, ADPGK-AS1
+204 more
Copy number gain
See cases
GPathogenic
LOC130057525, LOC130057526
+205 more
Duplication
Schizophrenia
GLikely pathogenic
LOC130057584, LOC130057585
+202 more
Copy number loss
See cases
GPathogenic
ADPGK, ADPGK-AS1
+195 more
Copy number loss
See cases
GLikely pathogenic
ADPGK, ADPGK-AS1
+236 more
Copy number loss
See cases
GPathogenic
LOC130057567, LOC130057568
+243 more
Copy number loss
See cases
GPathogenic
LOC130057491, NEO1
(S15Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130057491, NEO1
(L18P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC130057491, NEO1
(R35W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEO1
Single nucleotide variant
(synonymous variant)
NEO1-related disorder
GLikely benign
NEO1
(F92S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEO1
(D99N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEO1
(N120S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEO1
(R153G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEO1
Single nucleotide variant
(synonymous variant)
NEO1-related disorder
GBenign
NEO1
(N168S)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
NEO1
(P181L)
Single nucleotide variant
(missense variant)
NEO1-related disorder
GLikely benign
NEO1
(M205L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEO1
Single nucleotide variant
(synonymous variant)
NEO1-related disorder
+1 more
GBenign/Likely benign
NEO1
(V222I)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
NEO1
(E236K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEO1
Deletion
(intron variant)
NEO1-related disorder
GBenign
NEO1
Single nucleotide variant
(intron variant)
NEO1-related disorder
GLikely benign
NEO1
(I246K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEO1
(L249F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEO1
(P255L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEO1
(K284R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEO1
Deletion
(intron variant)
NEO1-related disorder
GLikely benign
NEO1
Deletion
(intron variant)
NEO1-related disorder
GBenign
NEO1
Deletion
(intron variant)
NEO1-related disorder
GBenign
NEO1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
NEO1
(L299V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEO1
(G303S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEO1
(S304I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEO1
(S304N)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
NEO1
Single nucleotide variant
(intron variant)
NEO1-related disorder
GLikely benign
NEO1
(Y351F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEO1
(V372M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEO1
(N394D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEO1
(V401L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEO1
(L428F)
Single nucleotide variant
(missense variant)
NEO1-related disorder
GUncertain significance
NEO1
Single nucleotide variant
(intron variant)
NEO1-related disorder
GBenign
NEO1
(T435M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEO1
(S440T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEO1
Single nucleotide variant
(synonymous variant)
NEO1-related disorder
GLikely benign
NEO1
(T461A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEO1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
NEO1
(L471V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEO1
Single nucleotide variant
(synonymous variant)
NEO1-related disorder
GBenign
NEO1
(V508L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEO1
(S551L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEO1
(T553A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEO1
(T558R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEO1
(N586S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEO1
Single nucleotide variant
(synonymous variant)
NEO1-related disorder
GBenign
NEO1
(V589A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEO1
(R628Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEO1
(H615Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEO1
(R627Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEO1
Single nucleotide variant
(intron variant)
NEO1-related disorder
GBenign
NEO1
(Q662R +1 more)
Single nucleotide variant
(missense variant)
NEO1-related disorder
GUncertain significance
NEO1
(K670R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEO1
(R672H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEO1
(R694Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEO1
(R678G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEO1
(G689R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEO1
(L692P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEO1
Single nucleotide variant
(intron variant)
NEO1-related disorder
GLikely benign
NEO1
Single nucleotide variant
(intron variant)
NEO1-related disorder
GLikely benign
NEO1
(N715D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEO1
(P719L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEO1
(A720P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEO1
Duplication
(splice acceptor variant)
NEO1-related disorder
GBenign
NEO1
(V751I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEO1
(S757G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEO1
(K786I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEO1
(V835M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEO1
(L879P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEO1
Single nucleotide variant
(synonymous variant)
NEO1-related disorder
GBenign
NEO1
(M951L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEO1
(R936Q +1 more)
Single nucleotide variant
(missense variant)
NEO1-related disorder
GUncertain significance
NEO1
(D960G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEO1
(V963I +1 more)
Single nucleotide variant
(missense variant)
NEO1-related disorder
GLikely benign
NEO1
(K971R)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
NEO1
(P979A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEO1
Single nucleotide variant
(synonymous variant)
NEO1-related disorder
GBenign
NEO1
(I992L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEO1
(I1002M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEO1
(N1013S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEO1
(M1043K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEO1
(A1054V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NEO1
(S1091N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEO1
(H1082Q +2 more)
Single nucleotide variant
(missense variant)
NEO1-related disorder
GLikely benign
NEO1
(S1087Y +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEO1
(A1113S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEO1
(R1118H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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