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Links from Gene

Items: 1 to 100 of 103

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CTAGE1
(T215A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTAGE1
(G494D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTAGE1
(P743S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTAGE1
(T479A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTAGE1
(S145L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTAGE1
(N638D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTAGE1
(L320V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTAGE1
(S267N)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CTAGE1
(D258G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTAGE1
(L251F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTAGE1
(K230R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTAGE1
(R17H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTAGE1
(P733S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTAGE1
(I668V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTAGE1
(V661I)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CTAGE1
(F660L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTAGE1
(M620V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTAGE1
(L609P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTAGE1
(A601V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTAGE1
(T540I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTAGE1
(T37M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABHD3, ANKRD29
+29 more
Copy number gain
not specified
GUncertain significance
CTAGE1
(G54E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTAGE1
(T635A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTAGE1
(S343G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTAGE1
(R214I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTAGE1
(T744I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTAGE1
(L299S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTAGE1
(E264Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTAGE1
(P733T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTAGE1
(E382D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTAGE1
(A557S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTAGE1
(Y488H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTAGE1
(T236S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABHD3, ANKRD29
+15 more
Duplication
Niemann-Pick disease, type C1
GUncertain significance
CTAGE1
(S434L)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CTAGE1
(R669S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTAGE1
(P567L)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CTAGE1
(K386E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTAGE1
(K220E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTAGE1
(V675G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTAGE1
(T677I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTAGE1
(L671S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTAGE1
(P667S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTAGE1
(L474V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTAGE1
(G622R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTAGE1
(W437L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTAGE1
(V248I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTAGE1
(T500M)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CTAGE1
(V26D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTAGE1
(K353E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTAGE1
(P625S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTAGE1
(K128N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTAGE1
(P650L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTAGE1
(R173W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTAGE1
(S647A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTAGE1
(M614R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTAGE1
(M719T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTAGE1
(K636E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTAGE1
(S705P)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CTAGE1
(D702G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTAGE1
(P701R)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CTAGE1
(S343R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTAGE1
(I668F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTAGE1
(A502G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CABYR, CBLN2
+267 more
Copy number gain
Trisomy 18
GPathogenic
ABHD3, ACAA2
+267 more
Copy number gain
not specified
GPathogenic
ABHD3, ANKRD29
+29 more
Copy number gain
not provided
GUncertain significance
ABHD3, ADCYAP1
+95 more
Copy number gain
not provided
GPathogenic
AKAIN1, LIPG
+174 more
Deletion
Intellectual disability
GPathogenic
CTAGE1
(P686T)
Single nucleotide variant
(missense variant)
not provided
GBenign
CTAGE1
(V696M)
Single nucleotide variant
(missense variant)
not provided
GBenign
CTAGE1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CTAGE1
(E264G)
Single nucleotide variant
(missense variant)
not provided
GBenign
CTAGE1
(I682M)
Single nucleotide variant
(missense variant)
not provided
GBenign
CTAGE1
(Q305E)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CTAGE1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABHD3, ACAA2
+267 more
Copy number gain
See cases
GPathogenic
ABHD3, ACAA2
+200 more
Copy number gain
See cases
GPathogenic
ABHD3, ADCYAP1
+157 more
Copy number gain
See cases
GPathogenic
ABHD3, ACAA2
+163 more
Copy number gain
See cases
GPathogenic
ABHD3, ADCYAP1
+84 more
Copy number gain
See cases
GPathogenic
ABHD3, ACAA2
+267 more
Copy number gain
See cases
GPathogenic
ABHD3, AFG3L2
+40 more
Copy number gain
See cases
GPathogenic
ABHD3, ACAA2
+200 more
Copy number gain
See cases
GPathogenic
TNFRSF11A, TXNL1
+267 more
Copy number gain
See cases
GPathogenic
LOC126862732, LOC126862733
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062243, LOC130062244
+111 more
Copy number gain
See cases
GPathogenic
LOC130062667, LOC130062668
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062208, LOC130062209
+322 more
Copy number gain
See cases
GPathogenic
LOC132090510, LOC132090511
+1089 more
Copy number gain
See cases
GPathogenic
LOC130062278, LOC130062279
+1643 more
Copy number gain
See cases
GPathogenic
ABHD3, ANKRD29
+378 more
Copy number gain
See cases
GPathogenic
ABHD3, ANKRD29
+282 more
Copy number gain
See cases
GPathogenic
LOC125368553, LOC125368554
+1643 more
Copy number gain
See cases
GPathogenic
LOC126862711, LOC126862712
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062355, LOC130062356
+1642 more
Copy number gain
See cases
GPathogenic
LOC132211113, LOC132211114
+1266 more
Copy number gain
See cases
GPathogenic
ABHD3, ANKRD29
+204 more
Copy number gain
See cases
GPathogenic
LOC126862717, LOC126862718
+1266 more
Copy number gain
See cases
GPathogenic
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