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Items: 62

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ILRUN-AS1, IP6K3
+2582 more
Copy number gain
See cases
GPathogenic
LOC129996415, LOC129996416
+435 more
Copy number loss
See cases
GPathogenic
LOC132089395, LOC132089396
+324 more
Copy number loss
See cases
GPathogenic
AARS2, ABCC10
+221 more
Copy number loss
See cases
GPathogenic
AARS2, CAPN11
+85 more
Copy number gain
See cases
GLikely benign
CAPN11
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CAPN11
(R25P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAPN11
(A29P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAPN11
(T36M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAPN11
(R46W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAPN11
(R46Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAPN11
(G53D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAPN11
(D56N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAPN11, LOC126859679
(K95E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAPN11, LOC126859679
(D124N)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CAPN11, LOC126859679
(I131T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAPN11, LOC126859679
(Q133*)
Single nucleotide variant
(nonsense)
not provided
GLikely benign
CAPN11
(T150S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAPN11
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CAPN11
(R157H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAPN11
(V158M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAPN11
(V158G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAPN11
(K166N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAPN11
(I172V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAPN11
(G224E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAPN11
(G237S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAPN11
(D240N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAPN11
(V245M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAPN11
(G273A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAPN11
(G323D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAPN11
(A335S)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CAPN11
(T353M)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CAPN11
(G356R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAPN11
(Y362H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAPN11
(T378M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAPN11
(E396Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAPN11
(R400C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAPN11
(R400H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAPN11
(P412R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAPN11
(F415L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAPN11
(V441I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAPN11
(R457W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAPN11
(Q458K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAPN11
(A472T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAPN11
(F490S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAPN11
(Y493C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAPN11
(S509R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAPN11
(V579M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAPN11
(M618T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAPN11
(M622L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAPN11
(G626C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAPN11
(R666L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAPN11
(F697V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAPN11
(C703R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAPN11
(H724Y)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ABCC10, BICRAL
+43 more
Deletion
not provided
GUncertain significance
CAPN11, GTPBP2
+8 more
Copy number gain
not provided
GUncertain significance
PAQR8, PGK2
+92 more
Copy number gain
not provided
GLikely pathogenic
ADGRF5, ANKRD66
+50 more
Copy number loss
not specified
GPathogenic
ERVH-3, ETV7
+427 more
Copy number gain
not provided
GPathogenic
AARS2, ABCC10
+1028 more
Copy number gain
See cases
GPathogenic
RING1, RIOK1
+1028 more
Copy number gain
See cases
GPathogenic
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