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Links from Gene

Items: 99

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NIBAN1
(S592T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(M203T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(G916C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(P649L)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
NIBAN1
(S646R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(S577N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(E779K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(R310H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(T100I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(E277K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(T234I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(H226Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(V15M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(R186M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(K160R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(P141S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(N95H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(E726K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(V93L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(V911M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(A876T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(A669V +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
NIBAN1
(A669S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(S854R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(E610D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(P810S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(T602A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(S591N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(V791L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(E784Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(V538I +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
NIBAN1
(V724A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(S706L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(T502A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(E491Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(T487N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(P677S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(G473V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(P67S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(R659K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(K62T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(P518Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(Q300K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(R277Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(E465K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(L462V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(T453P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(V44M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(R419H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(R217C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(P400L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(V365A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(V163L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(L347V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABL2, ACBD6
+123 more
Copy number loss
not specified
GPathogenic
NIBAN1
(K160E)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
NIBAN1
(I36V +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
NIBAN1
(D10H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(Q381K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(L258M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(V462L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(R395W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(L815F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(T55M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(N104K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(R19Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(M609K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(P334L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIBAN1
(I324T +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ASPM, IPO9
+211 more
Copy number gain
not provided
GPathogenic
ACBD6, APOBEC4
+48 more
Copy number loss
not provided
GPathogenic
ACBD6, APOBEC4
+98 more
Copy number loss
not specified
GPathogenic
ABL2, ACBD6
+82 more
Copy number loss
not specified
GPathogenic
BRINP2, BRINP3
+101 more
Copy number loss
not specified
GPathogenic
ABL2, ACBD6
+56 more
Copy number loss
not provided
GPathogenic
FCGR3A, LCE3C
+956 more
Duplication
Parathyroid carcinoma
+2 more
GUncertain significance
EDEM3, NIBAN1
Copy number gain
not provided
GUncertain significance
ABL2, ACBD6
+88 more
Copy number loss
not provided
GPathogenic
NIBAN1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
NIBAN1
(G830S)
Single nucleotide variant
(missense variant)
not provided
GBenign
NIBAN1
(F171L)
Single nucleotide variant
(missense variant)
not provided
GBenign
C4BPB, CACNA1S
+433 more
Copy number gain
not provided
GPathogenic
ABL2, ACBD6
+71 more
Copy number gain
See cases
GLikely pathogenic
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
DENND1B, DHX9
+83 more
Copy number loss
See cases
GPathogenic
COLGALT2, LAMC1
+35 more
Copy number loss
See cases
GPathogenic
MYOC, MYOCOS
+540 more
Copy number loss
See cases
GPathogenic
LOC129932082, LOC129932083
+561 more
Copy number loss
See cases
GPathogenic
EDEM3, LOC129388659
+5 more
Copy number loss
See cases
GUncertain significance
C1orf21, C1orf21-DT
+46 more
Copy number loss
See cases
GUncertain significance
ABL2, ACBD6
+513 more
Copy number gain
See cases
GPathogenic
C1orf21, C1orf21-DT
+37 more
Copy number loss
See cases
GUncertain significance
MIR488, MR1
+456 more
Copy number loss
See cases
GPathogenic
GS1-204I12.4, HMCN1
+44 more
Copy number loss
See cases
GPathogenic
NIBAN1
(T734M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
APOBEC4, ARPC5
+160 more
Copy number loss
See cases
GPathogenic
LOC129932021, LOC129932022
+478 more
Copy number loss
See cases
GPathogenic
ABL2, ACBD6
+347 more
Copy number loss
See cases
GPathogenic
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