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Items: 68

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130059125, LOC130059126
+675 more
Copy number gain
See cases
GPathogenic
MIR138-2, MIR140
+1738 more
Copy number gain
See cases
GPathogenic
LOC130059330, LOC130059331
+599 more
Copy number gain
See cases
GPathogenic
LOC130059197, LOC130059198
+575 more
Copy number gain
See cases
GPathogenic
AARS1, ACD
+939 more
Copy number gain
See cases
GPathogenic
LOC130059829, LOC130059830
+1429 more
Copy number gain
See cases
GPathogenic
LOC108281164, LOC109029536
+1426 more
Copy number gain
See cases
GPathogenic
LOC130059834, LOC130059835
+1424 more
Copy number gain
See cases
GPathogenic
LOC130059420, LOC130059421
+869 more
Copy number gain
See cases
GPathogenic
SLC7A6, SLC7A6OS
(D307Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC7A6, SLC7A6OS
(S288R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC7A6, SLC7A6OS
(R279G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC7A6OS
(S259G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC7A6OS
(Y253*)
Single nucleotide variant
(nonsense)
not specified
GUncertain significance
SLC7A6OS
(N251S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC7A6OS
(N248S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC7A6OS
(Y237H)
Single nucleotide variant
(missense variant)
Epilepsy, progressive myoclonic, 12
GUncertain significance
SLC7A6OS
(W224R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC7A6OS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC7A6OS
(Q218H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC7A6OS
(V217M)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
SLC7A6OS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC7A6OS
(P208A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC7A6OS
(T205M)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SLC7A6OS
(V197A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC7A6OS
(C156F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC7A6OS
(D140H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC7A6OS
(F136Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC7A6OS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC7A6OS
(N127S)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
SLC7A6OS
(E120K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC7A6OS
(G118C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC7A6OS
(S111Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC7A6OS
(L106F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC7A6OS
(R104Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC7A6OS
(L71V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC7A6OS
(P70S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC7A6OS
(Q69H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRMT7, SLC7A6OS
(Q64R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SLC7A6OS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC7A6OS
(R48K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC7A6OS
(V24M)
Single nucleotide variant
(missense variant)
not provided
GBenign
SLC7A6OS
(A22V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC7A6OS
(A20V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC7A6OS
(S16G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC7A6OS
(R5G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC7A6OS
(A3S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRMT7, PRSS54
+195 more
Duplication
Chromosome 16q12 duplication syndrome
GLikely pathogenic
ACD, C16orf86
+48 more
Copy number gain
not specified
GUncertain significance
CDH1, CDH3
+17 more
Copy number gain
not provided
GUncertain significance
ACD, AGRP
+33 more
Copy number gain
not provided
GUncertain significance
CYB5B, DDX19A
+127 more
Deletion
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
CDH1, CDH3
+6 more
Copy number gain
not provided
GUncertain significance
AARS1, ABCC11
+368 more
Copy number gain
not provided
GPathogenic
AARS1, ACD
+268 more
Copy number gain
not provided
Gnot provided
EXOC3L1, ESRP2
+95 more
Copy number loss
not provided
GPathogenic
AARS1, ACD
+194 more
Copy number gain
not provided
GPathogenic
CA7, COG8
+368 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
KCTD19, KIAA0513
+368 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
CBLN1, CCDC102A
+591 more
Copy number gain
See cases
GUncertain significance
AARS1, ABAT
+811 more
Copy number gain
See cases
GPathogenic
CCL22, CCNF
+811 more
Copy number gain
See cases
GPathogenic
AARS1, ACD
+292 more
Copy number gain
See cases
GPathogenic
ABCC6, BCL7C
+811 more
Copy number gain
See cases
GPathogenic
ACD, C16orf86
+28 more
Copy number loss
See cases
GLikely pathogenic
AARS1, ACD
+174 more
Copy number loss
Breast ductal adenocarcinoma
GUncertain significance
ATXN1L, B3GNT9
+368 more
Copy number loss
Breast ductal adenocarcinoma
GUncertain significance
ADGRG5, CFAP263
+324 more
Complex
Breast ductal adenocarcinoma
GUncertain significance
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