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Links from Gene

Items: 48

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARSG, PRKAR1A
+1 more
(S159N +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PRKAR1A, WIPI1
(G53R)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ARSG, PRKAR1A
+1 more
(R65H)
Single nucleotide variant
(3 prime UTR variant +4 more)
not specified
GUncertain significance
ARSG, PRKAR1A
+1 more
(R81Q)
Single nucleotide variant
(3 prime UTR variant +4 more)
not specified
GUncertain significance
ARSG, PRKAR1A
+1 more
(M215V +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ARSG, PRKAR1A
+1 more
(G267R +1 more)
Single nucleotide variant
(3 prime UTR variant +3 more)
not specified
GUncertain significance
ARSG, PRKAR1A
+1 more
(R28W +1 more)
Single nucleotide variant
(3 prime UTR variant +3 more)
not specified
GUncertain significance
ARSG, PRKAR1A
+1 more
(E104K +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ARSG, PRKAR1A
+1 more
(V63M)
Single nucleotide variant
(3 prime UTR variant +4 more)
not specified
GUncertain significance
ARSG, PRKAR1A
+1 more
(D59Y)
Single nucleotide variant
(3 prime UTR variant +4 more)
not specified
GUncertain significance
PRKAR1A, WIPI1
(H52Y)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ARSG, PRKAR1A
+1 more
(G441D +1 more)
Single nucleotide variant
(3 prime UTR variant +3 more)
not specified
GUncertain significance
ARSG, PRKAR1A
+1 more
(T283R +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ABCA10, ABCA6
+7 more
Copy number gain
not specified
GUncertain significance
ARSG, PRKAR1A
+1 more
Single nucleotide variant
(synonymous variant +2 more)
WIPI1-related disorder
GLikely benign
ARSG, PRKAR1A
+1 more
(M147I +1 more)
Single nucleotide variant
(missense variant +2 more)
WIPI1-related disorder
GLikely benign
ARSG, PRKAR1A
+1 more
(R407Q +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ARSG, PRKAR1A
+1 more
(F201L +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ARSG, PRKAR1A
+1 more
(I317N +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ARSG, PRKAR1A
+1 more
(A323V +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ARSG, PRKAR1A
+1 more
(A76V +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ARSG, PRKAR1A
+1 more
(T313M +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ARSG, PRKAR1A
+1 more
(E254K +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ARSG, PRKAR1A
+1 more
(H275Y +1 more)
Single nucleotide variant
(3 prime UTR variant +3 more)
not specified
GUncertain significance
ARSG, PRKAR1A
+1 more
(Y278N +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ARSG, PRKAR1A
+1 more
(T183A +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PRKAR1A, WIPI1
+1 more
(G267E +1 more)
Single nucleotide variant
(3 prime UTR variant +3 more)
not specified
GUncertain significance
ARSG, PRKAR1A
+1 more
(E206K +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ARSG, PRKAR1A
+1 more
(T224I +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ARSG, PRKAR1A
+1 more
(P217A +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ARSG, PRKAR1A
+1 more
(R226C +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ARSG, FAM20A
+2 more
Duplication
not provided
GUncertain significance
ARSG, PRKAR1A
+1 more
Single nucleotide variant
(3 prime UTR variant +4 more)
not provided
GBenign
ARSG, PRKAR1A
+1 more
Single nucleotide variant
(intron variant)
not provided
GBenign
ARSG, PRKAR1A
+1 more
(R308H +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GBenign
AANAT, AATK
+226 more
Copy number gain
not provided
GPathogenic
ABCA6, ABCA8
+79 more
Copy number gain
not provided
GPathogenic
ARSG, PRKAR1A
+1 more
(R246Q +1 more)
Single nucleotide variant
(3 prime UTR variant +3 more)
Neural tube defect
GAffects
LLGL2, MAP2K6
+119 more
Copy number gain
not provided
GLikely pathogenic
AANAT, AATK
+222 more
Copy number gain
not provided
GPathogenic
ALOX12, ALOX12B
+1143 more
Copy number gain
See cases
GPathogenic
SPEM2, TBCD
+1143 more
Copy number gain
See cases
GPathogenic
AANAT, AATK
+458 more
Copy number gain
See cases
GPathogenic
ABCA10, ABCA5
+18 more
Copy number gain
See cases
GUncertain significance
LOC129390924, LOC129390925
+59 more
Copy number loss
See cases
GPathogenic
AMZ2, ARSG
+62 more
Copy number loss
See cases
GPathogenic
AARSD1, AATF
+2032 more
Copy number gain
See cases
GPathogenic
ABCA10, ABCA5
+85 more
Copy number loss
See cases
GPathogenic
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