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Links from Gene

Items: 36

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TSG101
(R276H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSG101
(S216N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSG101
(V213I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSG101
(Q203P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSG101
(L8F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSG101
(D315N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSG101
(T21A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSG101
(E223K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CSRP3, IGSF22
+11 more
Deletion
Hypertrophic cardiomyopathy 12
+1 more
GUncertain significance
TSG101
(Y390C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSG101
(N27S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSG101
(A337T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSG101
(N83T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSG101
(S176Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TSG101
(R248C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GTF2H1, HPS5
+19 more
Copy number gain
not provided
GUncertain significance
ART1, CD81
+308 more
Copy number gain
See cases
GPathogenic
IGSF22, LDHAL6A
+5 more
Copy number loss
not specified
GUncertain significance
ZDHHC13, CSRP3
+26 more
Duplication
Progressive myoclonic epilepsy type 7
GUncertain significance
ACER3, ACP2
+904 more
Deletion
Intellectual disability
GPathogenic
LDHAL6A, TSG101
+1 more
Copy number loss
not provided
GUncertain significance
ABCC8, ANO3
+67 more
Copy number gain
not provided
GPathogenic
RASSF10, RCN1
+116 more
Copy number gain
not provided
GPathogenic
CCKBR, OR56A4
+343 more
Copy number gain
not provided
GPathogenic
TSG101
Single nucleotide variant
(synonymous variant)
not provided
GBenign
GTF2H1, HPS5
+18 more
Copy number loss
not provided
GUncertain significance
ABCC8, ADM
+327 more
Copy number gain
See cases
GPathogenic
ACP2, CREBZF
+1289 more
Copy number gain
See cases
GPathogenic
GALNT18, MPZL3
+1289 more
Copy number gain
See cases
GPathogenic
ABCC8, ADM
+305 more
Copy number gain
See cases
GPathogenic
OR2AG2, OR2D2
+364 more
Copy number gain
See cases
GPathogenic
DCDC1, DNAJC24
+44 more
Copy number loss
Aniridia 1
GPathogenic
CSRP3, CSRP3-AS1
+83 more
Copy number gain
See cases
GUncertain significance
CHID1, CHRNA10
+917 more
Copy number gain
See cases
GPathogenic
CSRP3, CSRP3-AS1
+86 more
Copy number loss
See cases
GPathogenic
TSG101
Single nucleotide variant
Familial cancer of breast
GUncertain significance
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