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Links from Gene

Items: 67

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLK1
(F296L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLK1
(P361L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLK1
(R449H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLK1
(V206I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLK1
(R246H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLK1
(S24N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLK1, LOC129935393
(A3V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLK1
(I239L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLK1
(S122C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLK1
(I161M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLK1
(C84R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLK1
(I104V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLK1
(R449C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CLK1
(R416L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLK1
(R409H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLK1
(R346G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLK1
(H378P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLK1
(E334K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABI2, ACADL
+95 more
Copy number loss
not specified
GPathogenic
CLK1
(T258A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLK1
(R6K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLK1
(D79N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLK1, LOC129935393
(E38K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AAMP, ABCA12
+208 more
Copy number gain
See cases
GPathogenic
CLK1, LOC129935393
(W12R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLK1
(I179L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLK1
(H120Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLK1
(I73V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLK1
(Y114C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLK1
(I410V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLK1, LOC129935393
(G17D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLK1
(S111R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLK1
(Q208K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLK1
(R126C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLK1
(T49S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABI2, ADAM23
+107 more
Copy number loss
not provided
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
ABI2, ACADL
+127 more
Copy number loss
Chromosome 2q32-q33 deletion syndrome
GPathogenic
ABI2, ADAM23
+58 more
Copy number loss
not specified
GPathogenic
AGPS, ANKAR
+217 more
Copy number gain
not specified
GPathogenic
CLK1
(R127C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
AAMP, ABCA12
+384 more
Copy number gain
See cases
GPathogenic
CASP8, CAVIN2
+233 more
Copy number gain
not provided
GPathogenic
ABI2, ALS2
+35 more
Deletion
Pulmonary arterial hypertension
GPathogenic
ACSL3, ADAM23
+208 more
Duplication
Neurodevelopmental disorder
GPathogenic
ANKRD44, AOX1
+45 more
Copy number loss
not provided
GPathogenic
HSPD1, DNAH7
+34 more
Copy number loss
not provided
GPathogenic
RGPD4, RGPD5
+1214 more
Copy number gain
See cases
GPathogenic
IL1F10, IL1R1
+1214 more
Copy number gain
See cases
GPathogenic
ANKRD44, AOX1
+28 more
Copy number loss
See cases
GPathogenic
ALS2, AOX1
+25 more
Copy number gain
See cases
GUncertain significance
NIF3L1, KCTD18
+13 more
Copy number gain
Premature ovarian failure
GUncertain significance
ABI2, ADAM23
+298 more
Copy number loss
See cases
GPathogenic
AAMP, ABCA12
+1687 more
Copy number gain
See cases
GPathogenic
ABCA12, ABI2
+509 more
Copy number loss
See cases
GPathogenic
ABI2, ADAM23
+293 more
Copy number loss
See cases
GPathogenic
INPP1, ITGA4
+1097 more
Copy number gain
See cases
GPathogenic
AOX1, BZW1
+45 more
Copy number loss
See cases
GPathogenic
ALS2, AOX1
+117 more
Copy number loss
See cases
GPathogenic
ANKAR, ANKRD44
+329 more
Copy number loss
See cases
GPathogenic
ALS2, AOX1
+145 more
Copy number loss
See cases
GLikely pathogenic
ABI2, ALS2
+279 more
Copy number loss
See cases
GPathogenic
LOC129935726, LOC129935727
+1665 more
Copy number gain
See cases
GPathogenic
LOC129935343, LOC129935344
+1703 more
Copy number gain
See cases
GPathogenic
LOC126806416, LOC126806417
+591 more
Copy number loss
See cases
GPathogenic
LOC129935713, LOC129935714
+1299 more
Copy number gain
See cases
GPathogenic
LOC129935164, LOC129935165
+697 more
Copy number loss
See cases
GPathogenic
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