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Items: 1 to 100 of 122

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACCS, ACCSL
+264 more
Copy number loss
See cases
GPathogenic
LOC130005585, LOC130005586
+258 more
Copy number loss
See cases
GPathogenic
ACCS, ACCSL
+254 more
Copy number gain
See cases
GLikely pathogenic
ACP2, AGBL2
+88 more
Copy number loss
See cases
GPathogenic
FNBP4, LOC111464990
+29 more
Copy number gain
See cases
GUncertain significance
LOC130005691, PTPRJ
Microsatellite
(inframe_insertion)
PTPRJ-related condition
GUncertain significance
LOC130005691, PTPRJ
(R29C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC111464990, LOC112081399
+18 more
Copy number gain
See cases
GUncertain significance
LOC111464990, LOC112081399
+15 more
Copy number gain
See cases
Gconflicting data from submitters
MIR3161, OR4A47
+7 more
Copy number gain
See cases
Gconflicting data from submitters
PTPRJ
Single nucleotide variant
(splice acceptor variant)
Thrombocytopenia 10
GPathogenic
PTPRJ
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PTPRJ
Single nucleotide variant
(synonymous variant)
PTPRJ-related condition
GLikely benign
OR4A47, OR4B1
+6 more
Copy number gain
See cases
GLikely benign
PTPRJ
(P44T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PTPRJ
(I58L)
Single nucleotide variant
(missense variant)
PTPRJ-related condition
GUncertain significance
PTPRJ
(F68C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PTPRJ
(D94N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PTPRJ
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PTPRJ
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PTPRJ
(K150T)
Single nucleotide variant
(missense variant)
PTPRJ-related condition
GUncertain significance
PTPRJ
(H155Y)
Single nucleotide variant
(missense variant)
PTPRJ-related condition
GUncertain significance
PTPRJ
(N192S)
Single nucleotide variant
(missense variant)
not provided
GBenign
PTPRJ
Single nucleotide variant
(synonymous variant)
PTPRJ-related condition
GLikely benign
PTPRJ
(P207L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PTPRJ
(R214C)
Single nucleotide variant
(missense variant)
Carcinoma of colon
GPathogenic
PTPRJ
(L239F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PTPRJ
(S260L)
Single nucleotide variant
(missense variant)
PTPRJ-related condition
+1 more
GUncertain significance
PTPRJ
(P272L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
PTPRJ
(Q276P)
Single nucleotide variant
(missense variant)
PTPRJ-related condition
+2 more
GBenign/Likely benign
PTPRJ
(K281N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PTPRJ
(A293T)
Single nucleotide variant
(missense variant)
not provided
GBenign
PTPRJ
(E336Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PTPRJ
(Q356R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PTPRJ
(Q358R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PTPRJ
(E361K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PTPRJ
Single nucleotide variant
(synonymous variant)
PTPRJ-related condition
GLikely benign
PTPRJ
(R418C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PTPRJ
(R418H)
Single nucleotide variant
(missense variant)
not specified
+1 more
GLikely benign
PTPRJ
(G423R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PTPRJ
(R425C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PTPRJ
(R425H)
Single nucleotide variant
(missense variant)
PTPRJ-related condition
GLikely benign
PTPRJ
(H451R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
PTPRJ
(P456A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PTPRJ
(I470M)
Single nucleotide variant
(missense variant)
PTPRJ-related condition
GLikely benign
PTPRJ
(G471S)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
PTPRJ
(Q488H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PTPRJ
(T499A)
Single nucleotide variant
(missense variant)
PTPRJ-related condition
GBenign
PTPRJ
(S531F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PTPRJ
(N536D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PTPRJ
(S541C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTPRJ
Single nucleotide variant
(synonymous variant)
PTPRJ-related condition
GLikely benign
PTPRJ
Single nucleotide variant
(synonymous variant)
PTPRJ-related condition
GLikely benign
PTPRJ
Deletion
(splice acceptor variant)
Thrombocytopenia 10
GPathogenic
PTPRJ
(I632T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PTPRJ
(S635R)
Single nucleotide variant
(missense variant)
not provided
GBenign
PTPRJ
(N666D)
Single nucleotide variant
(missense variant)
PTPRJ-related condition
GUncertain significance
PTPRJ
(A670T)
Single nucleotide variant
(missense variant)
PTPRJ-related condition
GUncertain significance
PTPRJ
Single nucleotide variant
(synonymous variant)
PTPRJ-related condition
GLikely benign
PTPRJ
(M722V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
PTPRJ
Single nucleotide variant
(synonymous variant)
PTPRJ-related condition
GLikely benign
PTPRJ
(E728K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTPRJ
(P744R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PTPRJ
(A762V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
PTPRJ
(S767N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PTPRJ
(G773D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PTPRJ
Single nucleotide variant
(intron variant)
PTPRJ-related condition
GLikely benign
PTPRJ
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PTPRJ
Single nucleotide variant
(synonymous variant)
PTPRJ-related condition
GLikely benign
PTPRJ
(N831H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PTPRJ
Single nucleotide variant
(synonymous variant)
PTPRJ-related condition
GLikely benign
PTPRJ
(K848I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PTPRJ
Single nucleotide variant
(synonymous variant)
PTPRJ-related condition
GLikely benign
PTPRJ
(T870M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PTPRJ
(R894C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PTPRJ
(R959H)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
PTPRJ
(T989S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PTPRJ
(A1003T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PTPRJ
Single nucleotide variant
(intron variant)
not provided
GBenign
PTPRJ
(Q1033H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PTPRJ
Single nucleotide variant
(intron variant)
PTPRJ-related condition
GLikely benign
PTPRJ
(S1085L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PTPRJ
(R1125C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PTPRJ
(Y1161D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PTPRJ
(M1168V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTPRJ
(T1169I)
Single nucleotide variant
(missense variant)
PTPRJ-related condition
GLikely benign
PTPRJ
(I1172T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PTPRJ
(V1222I)
Single nucleotide variant
(missense variant)
PTPRJ-related condition
GLikely benign
PTPRJ
(Y1225C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PTPRJ
(Q1228R)
Single nucleotide variant
(missense variant)
PTPRJ-related condition
GLikely benign
PTPRJ
(S1233L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PTPRJ
(I1235T)
Single nucleotide variant
(missense variant)
not provided
GBenign
PTPRJ
Single nucleotide variant
(intron variant)
PTPRJ-related condition
GLikely benign
PTPRJ
(I1259T)
Single nucleotide variant
(missense variant)
PTPRJ-related condition
GUncertain significance
PTPRJ
Single nucleotide variant
(synonymous variant)
PTPRJ-related condition
GLikely benign
PTPRJ
(D1286H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PTPRJ
(T1315A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PTPRJ
Single nucleotide variant
(synonymous variant)
PTPRJ-related condition
GLikely benign
PTPRJ
Single nucleotide variant
(synonymous variant)
not provided
GBenign
OR4B1, OR4C3
+4 more
Copy number loss
not provided
GUncertain significance
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