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Items: 1 to 100 of 199

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
GLA, RPL36A-HNRNPH2
(Q416*)
Single nucleotide variant
(nonsense +2 more)
not provided
GPathogenic
GLA, RPL36A-HNRNPH2
(T412fs)
Deletion
(frameshift variant +2 more)
not provided
+1 more
GPathogenic
RPL36A-HNRNPH2, GLA
(P409S)
Single nucleotide variant
(missense variant +2 more)
Fabry disease
+1 more
GPathogenic/Likely pathogenic
GLA, RPL36A-HNRNPH2
(L394P)
Single nucleotide variant
(missense variant +2 more)
Fabry disease
+2 more
GUncertain significance
GLA, RPL36A-HNRNPH2
(P389fs)
Deletion
(frameshift variant +2 more)
not provided
GPathogenic
GLA, RPL36A-HNRNPH2
(L388F)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
GLA, RPL36A-HNRNPH2
(Q386P)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
GLA, RPL36A-HNRNPH2
(G373D)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GPathogenic
GLA, RPL36A-HNRNPH2
(G373S)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
GLA, RPL36A-HNRNPH2
(R363H)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
GLA, RPL36A-HNRNPH2
(R363C)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
GLA, RPL36A-HNRNPH2
(P362L)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
GLA, RPL36A-HNRNPH2
(G360R)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
GLA, RPL36A-HNRNPH2
(I359fs)
Deletion
(frameshift variant +2 more)
not provided
GPathogenic
GLA, RPL36A-HNRNPH2
(E358del)
Deletion
(inframe_deletion +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
GLA, RPL36A-HNRNPH2
(E358K)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GPathogenic
GLA, RPL36A-HNRNPH2
(Q357*)
Single nucleotide variant
(nonsense +2 more)
not provided
GPathogenic
GLA, RPL36A-HNRNPH2
(R356Q)
Single nucleotide variant
(missense variant +2 more)
Fabry disease
+3 more
GConflicting classifications of pathogenicity
GLA, RPL36A-HNRNPH2
(M353fs)
Deletion
(frameshift variant +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
GLA, RPL36A-HNRNPH2
(W349S)
Single nucleotide variant
(missense variant +2 more)
Fabry disease
+2 more
GUncertain significance
GLA, RPL36A-HNRNPH2
(S345fs)
Microsatellite
(frameshift variant +2 more)
not provided
+1 more
GPathogenic
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GPathogenic
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely pathogenic
GLA, RPL36A-HNRNPH2
(R342*)
Single nucleotide variant
(nonsense +2 more)
GLA-related condition
+2 more
GPathogenic
RPL36A-HNRNPH2, GLA
(E341fs)
Deletion
(frameshift variant +2 more)
not provided
+1 more
GPathogenic
RPL36A-HNRNPH2, GLA
Single nucleotide variant
(intron variant)
not provided
GPathogenic
GLA, RPL36A-HNRNPH2
(W340*)
Insertion
(nonsense +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
GLA, RPL36A-HNRNPH2
(W340*)
Single nucleotide variant
(nonsense +2 more)
not provided
+1 more
GPathogenic
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
GLA, RPL36A-HNRNPH2
(V334A)
Single nucleotide variant
(missense variant +2 more)
Fabry disease
+1 more
GPathogenic
GLA, RPL36A-HNRNPH2
(Q333fs)
Deletion
(frameshift variant +2 more)
not provided
+1 more
GPathogenic
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GPathogenic
GLA, RPL36A-HNRNPH2
(G328R)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
GLA, RPL36A-HNRNPH2
(G328R)
Single nucleotide variant
(missense variant +2 more)
not provided
GPathogenic
GLA, RPL36A-HNRNPH2
(Q327*)
Single nucleotide variant
(nonsense +2 more)
not provided
GPathogenic
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(synonymous variant +2 more)
Cardiovascular phenotype
+3 more
GBenign/Likely benign
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GPathogenic
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
GLA, RPL36A-HNRNPH2
(D322E)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GPathogenic
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GPathogenic
GLA, RPL36A-HNRNPH2
(N320fs)
Microsatellite
(frameshift variant +2 more)
not provided
+1 more
GPathogenic
GLA, RPL36A-HNRNPH2
(D313Y)
Single nucleotide variant
(missense variant +2 more)
Sudden unexplained death
+6 more
GConflicting classifications of pathogenicity; other
GLA, RPL36A-HNRNPH2
(Q306*)
Single nucleotide variant
(nonsense +2 more)
not provided
GPathogenic
GLA, RPL36A-HNRNPH2
(R301Q)
Single nucleotide variant
(missense variant +2 more)
not provided
+3 more
GPathogenic
GLA, RPL36A-HNRNPH2
(R301*)
Single nucleotide variant
(nonsense +2 more)
not provided
+1 more
GPathogenic
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
GLA, RPL36A-HNRNPH2
(D299G)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely pathogenic
GLA, RPL36A-HNRNPH2
(N298S)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely pathogenic
GLA, RPL36A-HNRNPH2
(S297C)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
GLA, RPL36A-HNRNPH2
(M296T)
Single nucleotide variant
(missense variant +2 more)
Fabry disease
+1 more
GLikely pathogenic
GLA, RPL36A-HNRNPH2
(M296V)
Single nucleotide variant
(missense variant +2 more)
Fabry disease
+1 more
GPathogenic/Likely pathogenic
GLA, RPL36A-HNRNPH2
(L294fs)
Indel
(frameshift variant +2 more)
not provided
GPathogenic
GLA, RPL36A-HNRNPH2
(M290I)
Single nucleotide variant
(missense variant +2 more)
Fabry disease
+1 more
GConflicting classifications of pathogenicity
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
GLA, RPL36A-HNRNPH2
(W287C)
Single nucleotide variant
(missense variant +2 more)
Fabry disease
+1 more
GPathogenic/Likely pathogenic
GLA, RPL36A-HNRNPH2
(M284fs)
Duplication
(frameshift variant +2 more)
Fabry disease
+1 more
GPathogenic/Likely pathogenic
GLA, RPL36A-HNRNPH2
(Q283*)
Single nucleotide variant
(nonsense +2 more)
not provided
+1 more
GPathogenic
GLA, RPL36A-HNRNPH2
Deletion
(inframe_indel +2 more)
Fabry disease
+1 more
GConflicting classifications of pathogenicity
GLA, RPL36A-HNRNPH2
(W277*)
Single nucleotide variant
(nonsense +2 more)
Fabry disease
+1 more
GPathogenic
GLA, RPL36A-HNRNPH2
(S276G)
Single nucleotide variant
(missense variant +2 more)
Fabry disease
+1 more
GPathogenic
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely pathogenic
GLA, RPL36A-HNRNPH2
(I270F)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
GLA, RPL36A-HNRNPH2
(V269E)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(intron variant +1 more)
not provided
GPathogenic
GLA, RPL36A-HNRNPH2
Deletion
(intron variant +1 more)
not provided
+1 more
GPathogenic
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(intron variant)
not provided
+1 more
GPathogenic
GLA, RPL36A-HNRNPH2
(M267I)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GPathogenic
GLA, RPL36A-HNRNPH2
(M267fs)
Deletion
(frameshift variant +2 more)
not provided
GPathogenic
GLA, RPL36A-HNRNPH2
(D266V)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GPathogenic
GLA, RPL36A-HNRNPH2
(D264V)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
GLA, RPL36A-HNRNPH2
(W262*)
Single nucleotide variant
(nonsense +2 more)
not provided
GPathogenic
GLA, RPL36A-HNRNPH2
(G261S)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
GLA, RPL36A-HNRNPH2
(G261fs)
Deletion
(frameshift variant +2 more)
Fabry disease
+1 more
GPathogenic
GLA, RPL36A-HNRNPH2
(P259R)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GPathogenic
GLA, RPL36A-HNRNPH2
(Q250*)
Single nucleotide variant
(nonsense +2 more)
not provided
+1 more
GPathogenic
GLA, RPL36A-HNRNPH2
(W245*)
Single nucleotide variant
(nonsense +2 more)
not provided
+1 more
GPathogenic
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
GLA, RPL36A-HNRNPH2
(W245*)
Single nucleotide variant
(nonsense +2 more)
not provided
+1 more
GPathogenic
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(intron variant)
not provided
+1 more
GPathogenic
GLA, RPL36A-HNRNPH2
(K240fs)
Deletion
(frameshift variant +2 more)
Fabry disease
+1 more
GPathogenic
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(synonymous variant +2 more)
GLA-related condition
+5 more
GConflicting classifications of pathogenicity
GLA, RPL36A-HNRNPH2
(W236C)
Single nucleotide variant
(missense variant +2 more)
Fabry disease
+1 more
GPathogenic/Likely pathogenic
GLA, RPL36A-HNRNPH2
(W236R)
Single nucleotide variant
(missense variant +2 more)
not provided
GPathogenic
GLA, RPL36A-HNRNPH2
(S235C)
Single nucleotide variant
(missense variant +2 more)
Cardiovascular phenotype
+1 more
GPathogenic/Likely pathogenic
GLA, RPL36A-HNRNPH2
(D234V)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
GLA, RPL36A-HNRNPH2
(I232S)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GPathogenic
GLA, RPL36A-HNRNPH2
(R227*)
Single nucleotide variant
(nonsense +2 more)
not provided
+1 more
GPathogenic
GLA, RPL36A-HNRNPH2
(W226*)
Single nucleotide variant
(nonsense +2 more)
Cardiovascular phenotype
+1 more
GPathogenic
GLA, RPL36A-HNRNPH2
Deletion
(inframe_deletion +2 more)
not provided
GUncertain significance
GLA, RPL36A-HNRNPH2
(N224D)
Single nucleotide variant
(missense variant +2 more)
not provided
GPathogenic
GLA, RPL36A-HNRNPH2
(Y222*)
Single nucleotide variant
(nonsense +2 more)
not provided
+1 more
GPathogenic
GLA, RPL36A-HNRNPH2
(Q221fs)
Deletion
(frameshift variant +2 more)
not provided
GPathogenic
GLA, RPL36A-HNRNPH2
(Q221*)
Single nucleotide variant
(nonsense +2 more)
not provided
+1 more
GPathogenic
GLA, RPL36A-HNRNPH2
(R220*)
Single nucleotide variant
(nonsense +2 more)
not provided
+1 more
GPathogenic
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GPathogenic
GLA, RPL36A-HNRNPH2
(N215S)
Single nucleotide variant
(missense variant +2 more)
Fabry disease
+4 more
GPathogenic
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(intron variant +1 more)
Fabry disease
+1 more
GPathogenic
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(intron variant +1 more)
not provided
GPathogenic
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