U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 834

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GLA, RPL36A-HNRNPH2
(G104D)
Single nucleotide variant
(intron variant +2 more)
Fabry disease
GBenign
GLA, RPL36A-HNRNPH2
Deletion
(intron variant +2 more)
Fabry disease
GLikely pathogenic
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(intron variant)
Fabry disease
GLikely benign
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(synonymous variant +2 more)
Fabry disease
GLikely benign
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(synonymous variant +2 more)
Fabry disease
GLikely benign
GLA, RPL36A-HNRNPH2
Microsatellite
(intron variant)
Fabry disease
GLikely benign
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(intron variant)
Fabry disease
GLikely benign
GLA, RPL36A-HNRNPH2
(Q2H)
Single nucleotide variant
(missense variant +2 more)
Fabry disease
GUncertain significance
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(intron variant)
Fabry disease
GLikely benign
GLA, RPL36A-HNRNPH2
(G411S +1 more)
Single nucleotide variant
(missense variant +2 more)
Fabry disease
GUncertain significance
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(intron variant)
Fabry disease
GLikely benign
GLA, RPL36A-HNRNPH2
(D244E +1 more)
Single nucleotide variant
(missense variant +2 more)
Fabry disease
GUncertain significance
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(intron variant)
Fabry disease
GLikely benign
GLA, RPL36A-HNRNPH2
Deletion
(non-coding transcript variant +1 more)
Fabry disease
GLikely benign
GLA, RPL36A-HNRNPH2
(L189fs +1 more)
Deletion
(frameshift variant +2 more)
Fabry disease
GPathogenic
GLA, RPL36A-HNRNPH2
(V380E +1 more)
Single nucleotide variant
(missense variant +2 more)
Fabry disease
GUncertain significance
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(synonymous variant +2 more)
Fabry disease
GLikely benign
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(intron variant)
Fabry disease
GLikely benign
GLA, RPL36A-HNRNPH2
(E103K +1 more)
Single nucleotide variant
(missense variant +2 more)
Fabry disease
GUncertain significance
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(synonymous variant +2 more)
Fabry disease
GLikely benign
GLA, RPL36A-HNRNPH2
(T217I +1 more)
Single nucleotide variant
(missense variant +2 more)
Fabry disease
GUncertain significance
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(intron variant)
Fabry disease
GLikely benign
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(intron variant)
Fabry disease
GLikely benign
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(intron variant)
Fabry disease
GLikely benign
GLA, RPL36A-HNRNPH2
(L45V)
Single nucleotide variant
(missense variant +2 more)
Fabry disease
GUncertain significance
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(synonymous variant +2 more)
Fabry disease
GUncertain significance
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(intron variant)
Fabry disease
GLikely benign
GLA, RPL36A-HNRNPH2
(P421L +1 more)
Single nucleotide variant
(missense variant +2 more)
Fabry disease
GUncertain significance
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(synonymous variant +2 more)
Fabry disease
GLikely benign
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(intron variant)
Fabry disease
GLikely benign
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(intron variant)
Fabry disease
GLikely benign
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(intron variant)
Fabry disease
GLikely benign
GLA, RPL36A-HNRNPH2
Duplication
(intron variant)
Fabry disease
GBenign
GLA, RPL36A-HNRNPH2
(L129M +1 more)
Single nucleotide variant
(missense variant +2 more)
Fabry disease
GUncertain significance
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(synonymous variant +2 more)
Fabry disease
GLikely benign
GLA, RPL36A-HNRNPH2
(A350G +1 more)
Single nucleotide variant
(missense variant +2 more)
Fabry disease
GUncertain significance
GLA, RPL36A-HNRNPH2
(I132L +1 more)
Single nucleotide variant
(missense variant +2 more)
Fabry disease
GUncertain significance
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(intron variant)
Fabry disease
GLikely benign
GLA, RPL36A-HNRNPH2
(A422V +1 more)
Single nucleotide variant
(missense variant +2 more)
Fabry disease
GUncertain significance
GLA, RPL36A-HNRNPH2
(R342fs +1 more)
Deletion
(frameshift variant +2 more)
Fabry disease
GPathogenic
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(synonymous variant +2 more)
Fabry disease
GLikely benign
GLA, RPL36A-HNRNPH2
(Q229H)
Single nucleotide variant
(intron variant +1 more)
Fabry disease
GLikely benign
GLA, RPL36A-HNRNPH2
(E59V)
Single nucleotide variant
(missense variant +2 more)
Fabry disease
GLikely pathogenic
GLA, RPL36A-HNRNPH2
Deletion
(nonsense +1 more)
Fabry disease
GLikely benign
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(intron variant)
Fabry disease
GLikely benign
GLA, RPL36A-HNRNPH2
Duplication
(inframe_insertion +2 more)
Fabry disease
GUncertain significance
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(synonymous variant +2 more)
Fabry disease
GLikely benign
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(synonymous variant +2 more)
Fabry disease
GLikely benign
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(intron variant)
Fabry disease
GLikely benign
GLA, RPL36A-HNRNPH2
(E178G +1 more)
Single nucleotide variant
(missense variant +2 more)
Fabry disease
GUncertain significance
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(intron variant)
Fabry disease
GLikely benign
RPL36A-HNRNPH2, GLA
Single nucleotide variant
(synonymous variant +2 more)
Fabry disease
GLikely benign
GLA, RPL36A-HNRNPH2
(M70T +1 more)
Single nucleotide variant
(missense variant +2 more)
Fabry disease
GUncertain significance
GLA, RPL36A-HNRNPH2
(L324V +1 more)
Single nucleotide variant
(missense variant +2 more)
Fabry disease
GUncertain significance
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(synonymous variant +2 more)
Fabry disease
GLikely benign
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(intron variant)
Fabry disease
GLikely benign
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(synonymous variant +2 more)
Fabry disease
GLikely benign
GLA, RPL36A-HNRNPH2
(A29P)
Single nucleotide variant
(missense variant +2 more)
Fabry disease
GUncertain significance
GLA, RPL36A-HNRNPH2
(E251G +1 more)
Single nucleotide variant
(missense variant +2 more)
Fabry disease
GUncertain significance
GLA, RPL36A-HNRNPH2
(S102fs +1 more)
Deletion
(frameshift variant +2 more)
Fabry disease
GPathogenic
GLA, RPL36A-HNRNPH2
(A389D +1 more)
Single nucleotide variant
(missense variant +2 more)
Fabry disease
GUncertain significance
GLA, RPL36A-HNRNPH2
(G163fs +1 more)
Deletion
(frameshift variant +2 more)
Fabry disease
GPathogenic
GLA, RPL36A-HNRNPH2
(W95C +1 more)
Single nucleotide variant
(missense variant +2 more)
Fabry disease
GUncertain significance
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(synonymous variant +2 more)
Fabry disease
GLikely benign
GLA, RPL36A-HNRNPH2
(F340L)
Single nucleotide variant
(missense variant +1 more)
Fabry disease
GLikely benign
GLA, RPL36A-HNRNPH2
Indel
(intron variant)
Fabry disease
GUncertain significance
GLA, RPL36A-HNRNPH2
Deletion
(intron variant)
Fabry disease
GLikely benign
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(synonymous variant +2 more)
Fabry disease
GLikely benign
GLA, RPL36A-HNRNPH2
Microsatellite
(intron variant)
Fabry disease
GLikely benign
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(intron variant)
Fabry disease
GBenign
RPL36A-HNRNPH2, GLA
Single nucleotide variant
(intron variant +1 more)
Fabry disease
GPathogenic
GLA, RPL36A-HNRNPH2
(C172R +1 more)
Single nucleotide variant
(missense variant +2 more)
Fabry disease
GPathogenic
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(intron variant)
Fabry disease
GLikely pathogenic
GLA, RPL36A-HNRNPH2
(I270T +1 more)
Single nucleotide variant
(missense variant +2 more)
Fabry disease
GPathogenic
GLA, RPL36A-HNRNPH2
(A288D)
Single nucleotide variant
(missense variant +2 more)
Fabry disease
GUncertain significance
GLA, RPL36A-HNRNPH2
(M296L +1 more)
Single nucleotide variant
(missense variant +2 more)
Fabry disease
GLikely pathogenic
GLA, RPL36A-HNRNPH2
(I344N +1 more)
Single nucleotide variant
(missense variant +2 more)
Fabry disease
GLikely pathogenic
GLA, RPL36A-HNRNPH2
(I317fs)
Duplication
(frameshift variant +2 more)
Fabry disease
GPathogenic
GLA, RPL36A-HNRNPH2
(P430R +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Fabry disease
GUncertain significance
GLA, RPL36A-HNRNPH2
(E439A +1 more)
Single nucleotide variant
(missense variant +2 more)
Fabry disease
GUncertain significance
GLA, RPL36A-HNRNPH2
(A307V)
Single nucleotide variant
(missense variant +2 more)
Fabry disease
GUncertain significance
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(synonymous variant +2 more)
Fabry disease
GLikely benign
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(intron variant)
Fabry disease
GLikely benign
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(intron variant)
Fabry disease
GLikely benign
GLA, RPL36A-HNRNPH2
(V22I)
Single nucleotide variant
(missense variant +2 more)
Fabry disease
GUncertain significance
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(synonymous variant +2 more)
Fabry disease
GLikely benign
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(intron variant)
Fabry disease
GLikely benign
GLA, RPL36A-HNRNPH2
(C378fs +1 more)
Duplication
(frameshift variant +2 more)
Fabry disease
GPathogenic
GLA, RPL36A-HNRNPH2
(E398Q +1 more)
Single nucleotide variant
(missense variant +2 more)
Fabry disease
GUncertain significance
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(intron variant)
Fabry disease
GLikely benign
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(synonymous variant +2 more)
Fabry disease
GLikely benign
GLA, RPL36A-HNRNPH2
(K336Q)
Single nucleotide variant
(missense variant +1 more)
Fabry disease
GLikely benign
GLA, RPL36A-HNRNPH2
Indel
(nonsense +2 more)
Fabry disease
GPathogenic
GLA, RPL36A-HNRNPH2
(S238G +1 more)
Single nucleotide variant
(missense variant +2 more)
Fabry disease
GUncertain significance
GLA, RPL36A-HNRNPH2
(E66G)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
GLA, RPL36A-HNRNPH2
(T39R)
Single nucleotide variant
(missense variant +2 more)
Fabry disease
GLikely pathogenic
GLA, RPL36A-HNRNPH2
(Y222* +1 more)
Single nucleotide variant
(nonsense +2 more)
Fabry disease
GPathogenic
RPL36A-HNRNPH2, GLA
(C378Y +1 more)
Single nucleotide variant
(missense variant +2 more)
Fabry disease
GLikely pathogenic
GLA, RPL36A-HNRNPH2
(V390M +1 more)
Single nucleotide variant
(missense variant +2 more)
Fabry disease
GLikely pathogenic
GLA, RPL36A-HNRNPH2
Duplication
(intron variant)
not specified
+1 more
GConflicting classifications of pathogenicity
Format
Items per page
Sort by
Choose Destination