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Items: 52

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGL, AKNAD1
+195 more
Copy number loss
See cases
GPathogenic
AGL, AHCYL1
+333 more
Copy number loss
See cases
GPathogenic
ELAPOR1, EPS8L3
+276 more
Copy number loss
See cases
GPathogenic
AHCYL1, AKNAD1
+242 more
Deletion
Autism
GLikely pathogenic
LINC01780, LINC02868
+563 more
Copy number gain
See cases
GPathogenic
ADORA3, AHCYL1
+274 more
Copy number loss
See cases
GPathogenic
AHCYL1, AKNAD1
+148 more
Copy number loss
See cases
GPathogenic
LOC126805818, LOC129931063
+7 more
Copy number gain
See cases
GUncertain significance
PRMT6
Single nucleotide variant
(5 prime UTR variant)
PRMT6-related disorder
GLikely benign
PRMT6
(K5R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRMT6
(L9V)
Single nucleotide variant
(missense variant)
PRMT6-related disorder
GLikely benign
PRMT6
(G12W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRMT6
(G12R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRMT6
Single nucleotide variant
(synonymous variant)
PRMT6-related disorder
GLikely benign
PRMT6
(R37G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRMT6
(V54F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129931064, PRMT6
(R106W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129931064, PRMT6
(W117R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129931064, PRMT6
(R132Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRMT6
(P137L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129931065, PRMT6
(D150E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129931065, PRMT6
(S168N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129931065, PRMT6
(K179R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129931066, PRMT6
(F192L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129931066, PRMT6
(A194V)
Single nucleotide variant
(missense variant)
PRMT6-related disorder
GBenign
LOC129931066, PRMT6
(Q199H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129931066, PRMT6
(V211L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129931066, PRMT6
(L230F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129931066, PRMT6
(E244K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRMT6
(A254G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRMT6
(A261P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRMT6
(L263S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRMT6
(G273V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRMT6
(M285L)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PRMT6
(M285V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRMT6
(H286Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRMT6
(G298R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRMT6
(G298R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRMT6
(G298E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRMT6
Single nucleotide variant
(synonymous variant)
PRMT6-related disorder
GBenign
PRMT6
(A315S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRMT6
(E327K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRMT6
(R347W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRMT6
(R347G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NTNG1, PRMT6
Copy number gain
not provided
GUncertain significance
ADORA3, AGL
+124 more
Copy number loss
not specified
GPathogenic
NTNG1, PRMT6
Copy number gain
not provided
GLikely benign
ATP1A1, RAP1A
+131 more
Copy number loss
Seizure
+1 more
GPathogenic
ABCA4, ABCD3
+177 more
Copy number gain
See cases
GPathogenic
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
VAV3, PRMT6
+1 more
Copy number gain
See cases
GUncertain significance
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