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Links from Gene

Items: 79

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IQUB
(I713T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IQUB
(M698I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IQUB
(V188G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IQUB
(I768S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IQUB
(F357I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IQUB
(P85Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IQUB
(D764V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IQUB
(V135I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IQUB
(V229A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IQUB
(S424C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IQUB
(A332S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IQUB
(T306A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IQUB
(T304I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IQUB
(T303K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IQUB
(H95R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IQUB
(P92L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IQUB
(N750K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IQUB
(S736L)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
IQUB
(T479N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IQUB
(V358I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AASS, AGBL3
+100 more
Copy number loss
not specified
GPathogenic
IQUB
(R175S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IQUB
(P73R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IQUB
(E80Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IQUB
(V344E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IQUB
(M79L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IQUB
(H335Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IQUB
(R420C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IQUB
(Q443L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IQUB
(Q499K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IQUB
(D22N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IQUB
(T261A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IQUB
(R621C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IQUB
(N75S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IQUB
(A446V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IQUB
(L437F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IQUB
(H56R)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
IQUB
(T492I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IQUB
(N296S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IQUB
(E544K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IQUB
(I224V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IQUB
(A759V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IQUB
(N627K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IQUB
(V145I)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
IQUB
(D765V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IQUB
(R621H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IQUB
(C690F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IQUB
(R393Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IQUB
(P790T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IQUB
(R420H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AASS, ABCA13
+896 more
Copy number loss
See cases
GUncertain significance
CACNA2D1, CADPS2
+896 more
Complex
Ring chromosome 7
GPathogenic
FEZF1, GPR37
+38 more
Deletion
Delayed speech and language development
GLikely pathogenic
PRRT4, PTPRZ1
+92 more
Copy number gain
not specified
GPathogenic
AASS, ANKRD7
+35 more
Copy number loss
Global developmental delay
+2 more
GPathogenic
IQUB, ASB15
+3 more
Copy number gain
not provided
GUncertain significance
SPAM1, HYAL4
+6 more
Copy number gain
not provided
GLikely benign
CHRM2, KRBA1
+295 more
Copy number gain
not provided
GPathogenic
TMEM168, LAMB4
+59 more
Copy number loss
not provided
GPathogenic
IQUB
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
PRSS1, PRSS37
+896 more
Copy number gain
not provided
GPathogenic
AASS, AHCYL2
+46 more
Copy number loss
not provided
GPathogenic
AASS, ABCB8
+436 more
Copy number gain
not provided
GPathogenic
LMOD2, IQUB
+6 more
Copy number gain
not provided
GLikely benign
AVL9, AZGP1
+896 more
Copy number gain
See cases
GPathogenic
MCM7, MDFIC
+896 more
Copy number gain
See cases
GPathogenic
AASS, ABCA13
+678 more
Deletion
Pleomorphic xanthoastrocytoma
GPathogenic
AASS, RNU2-1
+57 more
Copy number loss
See cases
GPathogenic
ASB15, ASB15-AS1
+20 more
Copy number gain
See cases
GUncertain significance
ASB15, ASB15-AS1
+20 more
Copy number gain
See cases
GUncertain significance
AASS, ARF5
+163 more
Copy number loss
See cases
GPathogenic
AASS, ABCB8
+1547 more
Copy number gain
See cases
GPathogenic
AASS, ABCB8
+1380 more
Copy number gain
See cases
GPathogenic
LOC129999373, LOC129999374
+492 more
Copy number loss
See cases
GPathogenic
LOC123956257, LOC123956258
+2213 more
Copy number gain
See cases
GPathogenic
CUL1, CUX1
+4737 more
Copy number loss
See cases
GPathogenic
AASS, ANKRD7
+253 more
Copy number loss
See cases
GPathogenic
ASB15, ASB15-AS1
+20 more
Copy number gain
See cases
GUncertain significance
AASS, ANKRD7
+248 more
Copy number loss
See cases
GPathogenic
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