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Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GLA, RPL36A-HNRNPH2
(N419D)
Single nucleotide variant
(missense variant +2 more)
Cardiovascular phenotype
+3 more
GUncertain significance
GLA, RPL36A-HNRNPH2
(T412A)
Single nucleotide variant
(missense variant +2 more)
Cardiomyopathy
GUncertain significance
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(synonymous variant +2 more)
Fabry disease
+3 more
GLikely benign
GLA, RPL36A-HNRNPH2
(D313Y)
Single nucleotide variant
(missense variant +2 more)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity; other
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(synonymous variant +2 more)
Cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
GLA, RPL36A-HNRNPH2
(R220Q)
Single nucleotide variant
(missense variant +2 more)
Fabry disease
+1 more
GUncertain significance
GLA, RPL36A-HNRNPH2
(N215S)
Single nucleotide variant
(missense variant +2 more)
Hypertrophic cardiomyopathy
+4 more
GPathogenic
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
GLA, RPL36A-HNRNPH2
Microsatellite
(intron variant)
Cardiomyopathy
+3 more
GBenign
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(intron variant)
Cardiomyopathy
GUncertain significance
GLA, RPL36A-HNRNPH2
(P205T)
Single nucleotide variant
(missense variant +2 more)
Cardiomyopathy
+3 more
GPathogenic/Likely pathogenic
GLA, RPL36A-HNRNPH2
(S201A)
Single nucleotide variant
(missense variant +2 more)
Cardiomyopathy
+1 more
GUncertain significance
GLA, RPL36A-HNRNPH2
(W162*)
Single nucleotide variant
(nonsense +2 more)
Fabry disease
+1 more
GPathogenic/Likely pathogenic
GLA, RPL36A-HNRNPH2
(A143T)
Single nucleotide variant
(missense variant +2 more)
not specified
+5 more
GConflicting classifications of pathogenicity
GLA, RPL36A-HNRNPH2
(S126G)
Single nucleotide variant
(missense variant +2 more)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
GLA, RPL36A-HNRNPH2
(R118C)
Single nucleotide variant
(missense variant +2 more)
not provided
+4 more
GConflicting classifications of pathogenicity
GLA, RPL36A-HNRNPH2
(Q99fs)
Deletion
(frameshift variant +2 more)
not provided
+2 more
GPathogenic/Likely pathogenic
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(synonymous variant +2 more)
Fabry disease
+4 more
GConflicting classifications of pathogenicity
GLA, RPL36A-HNRNPH2
(W24R)
Single nucleotide variant
(missense variant +2 more)
Cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(synonymous variant +2 more)
not specified
+2 more
GLikely benign
GLA, RPL36A-HNRNPH2
(L3P)
Single nucleotide variant
(missense variant +2 more)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(5 prime UTR variant +2 more)
Fabry disease
+3 more
GConflicting classifications of pathogenicity
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