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Links from Gene

Items: 49

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KLHL32
(S471C +7 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
KLHL32
(E281G +6 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
KLHL32
(A31V)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
KLHL32
(I225V +6 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
KLHL32
(H133R +2 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
KLHL32
(A32V +1 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
KLHL32
(T192A +6 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
KLHL32
(G322D +6 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
KLHL32
(S152T +6 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ASCC3, CCNC
+20 more
Copy number gain
not specified
GUncertain significance
AFG1L, ARMC2
+43 more
Copy number loss
not provided
GPathogenic
KLHL32
(P278S)
Single nucleotide variant
(synonymous variant +3 more)
not provided
GLikely benign
KLHL32
(A156S +6 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
KLHL32
(I199V +6 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
KLHL32
(Y136C +6 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
KLHL32
(Q35P)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
KLHL32
(R338H +6 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
KLHL32
(R162H +3 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
KLHL32
(D101N +3 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
KLHL32
(E22K)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
KLHL32
(D14A +6 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
KLHL32
(R305H +6 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
KLHL32
(K298E +6 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
KLHL32
(Q358R +6 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
KLHL32
(A54E +2 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
KLHL32
(P304R +6 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
KLHL32
(R129C +3 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
KLHL32
(A186P +6 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
KLHL32
(C284R +6 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
KLHL32
(A55V)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
KLHL32
(K233E +6 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
KLHL32
(R445C +7 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ASCC3, BVES
+21 more
Copy number loss
not provided
GPathogenic
ASCC3, BVES
+22 more
Copy number loss
not provided
GPathogenic
AKIRIN2, ANKRD6
+65 more
Copy number loss
See cases
GUncertain significance
ASCC3, CCNC
+20 more
Copy number loss
not specified
GPathogenic
AFG1L, AK9
+98 more
Copy number loss
not specified
GPathogenic
AFG1L, AK9
+138 more
Copy number loss
not specified
GPathogenic
KLHL32, NDUFAF4
Microsatellite
(5 prime UTR variant)
not provided
GLikely benign
KLHL32, NDUFAF4
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
AFG1L, AK9
+80 more
Copy number loss
not provided
GPathogenic
AKIRIN2, ANKRD6
+56 more
Copy number gain
not provided
GPathogenic
AARS2, ABCC10
+1028 more
Copy number gain
See cases
GPathogenic
RING1, RIOK1
+1028 more
Copy number gain
See cases
GPathogenic
ZBTB24, AFG1L
+49 more
Copy number loss
See cases
GPathogenic
AFG1L, AK9
+44 more
Copy number loss
See cases
GPathogenic
LOC129996876, LOC129996877
+1449 more
Copy number gain
See cases
GPathogenic
AFG1L, AK9
+558 more
Copy number loss
See cases
GPathogenic
SMIM8, SNHG5
+247 more
Copy number loss
See cases
GPathogenic
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