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Links from Gene

Items: 62

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GSPT1, RSL1D1-DT
(N251S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GSPT1, RSL1D1-DT
(M100V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GSPT1, RSL1D1-DT
(E211Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GSPT1
(S21G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GSPT1, RSL1D1-DT
(P203L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GSPT1
(S17G)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
GSPT1, LOC130058512
(N105K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GSPT1
(N70S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GSPT1, RSL1D1-DT
(P634S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GSPT1
(E59A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
BCAR4, GSPT1
+8 more
Copy number loss
not provided
GUncertain significance
BCAR4, GSPT1
+3 more
Copy number gain
not provided
GUncertain significance
BCAR4, GSPT1
+6 more
Copy number gain
not provided
GUncertain significance
GSPT1, RSL1D1-DT
(Q588E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GSPT1
(A95V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GSPT1, RSL1D1-DT
(N134D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GSPT1, RSL1D1-DT
(R282H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GSPT1, RSL1D1-DT
(P154T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GSPT1, RSL1D1-DT
(G34C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GSPT1, RSL1D1-DT
(P119R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GSPT1, RSL1D1-DT
(I194V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GSPT1
(P28L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GSPT1
(S19G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GSPT1
(S18G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GSPT1, RSL1D1-DT
(E181D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GSPT1, RSL1D1-DT
(V317I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GSPT1, RSL1D1-DT
(G172R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GSPT1, RSL1D1-DT
(D394G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GSPT1, RSL1D1-DT
(L175M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GSPT1, RSL1D1-DT
(T242M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GSPT1, RSL1D1-DT
(N548S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GSPT1
(M36V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GSPT1, RSL1D1-DT
(E181G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GSPT1, RSL1D1-DT
(N369K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GSPT1
(D35E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GSPT1, RSL1D1-DT
(V200A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GSPT1
(S19T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GSPT1, SNX29
+1 more
Copy number loss
not provided
GUncertain significance
CIITA, ATF7IP2
+21 more
Copy number gain
not provided
GUncertain significance
ABAT, ABCC1
+226 more
Copy number gain
not provided
GPathogenic
SNN, SNX29
+13 more
Copy number gain
not specified
GUncertain significance
GSPT1, SNX29
+1 more
Copy number loss
not provided
GUncertain significance
ABAT, ABCC1
+252 more
Copy number gain
See cases
GPathogenic
ABAT, ABCC1
+250 more
Copy number gain
Microcephaly
GPathogenic
BCAR4, GSPT1
+3 more
Copy number gain
not provided
GUncertain significance
BFAR, CPPED1
+10 more
Copy number loss
not provided
GUncertain significance
GSPT1, TNFRSF17
+1 more
Copy number gain
not provided
GUncertain significance
BCAR4, CPPED1
+85 more
Duplication
Schizophrenia
GLikely pathogenic
ABAT, ABCA3
+295 more
Copy number gain
See cases
GPathogenic
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
PRSS27, PRSS33
+263 more
Copy number gain
See cases
GPathogenic
ATF7IP2, BCAR4
+22 more
Copy number gain
See cases
GUncertain significance
ABCC6, BCL7C
+811 more
Copy number gain
See cases
GPathogenic
ALG1, BICDL2
+388 more
Complex
Hemimegalencephaly
GPathogenic
AMDHD2, ANKS3
+202 more
Copy number gain
Breast ductal adenocarcinoma
GUncertain significance
ABAT, ABCA3
+384 more
Copy number gain
Breast ductal adenocarcinoma
GUncertain significance
ABAT, ABCA3
+330 more
Copy number gain
See cases
GPathogenic
ABAT, ABCA3
+926 more
Copy number gain
See cases
GPathogenic
EEF2KMT, ELOB
+917 more
Copy number gain
See cases
GPathogenic
ABAT, ABCC1
+852 more
Copy number gain
See cases
GPathogenic
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