"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "GLA"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 558790	NM_000169.3(GLA):c.1290A>G (p.Ter430=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease	GLikely benign
Select item 379288	NM_000169.3(GLA):c.1102G>C (p.Ala368Pro)	GLA, RPL36A-HNRNPH2 (A368P +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease +2 more	GConflicting classifications of pathogenicity
Select item 42451	NM_000169.3(GLA):c.1102G>A (p.Ala368Thr)	GLA, RPL36A-HNRNPH2 (A368T +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease +3 more	GConflicting classifications of pathogenicity
Select item 222112	NM_000169.3(GLA):c.1000-22C>T	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1162909	NM_000169.3(GLA):c.897C>A (p.Asp299Glu)	GLA, RPL36A-HNRNPH2 (D299E +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 217400	NM_000169.3(GLA):c.865A>G (p.Ile289Val)	GLA, RPL36A-HNRNPH2 (I289V +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 10732	NM_000169.3(GLA):c.680G>A (p.Arg227Gln)	GLA, RPL36A-HNRNPH2 (R268Q)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic
Select item 10730	NM_000169.3(GLA):c.644A>G (p.Asn215Ser)	GLA, RPL36A-HNRNPH2 (N215S +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiomyopathy +4 more	GPathogenic
Select item 92559	NM_000169.3(GLA):c.640-16A>G	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 10748	NM_000169.3(GLA):c.427G>A (p.Ala143Thr)	GLA, RPL36A-HNRNPH2 (A143T +1 more)	Single nucleotide variant (missense variant +2 more)	Primary familial hypertrophic cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 42454	NM_000169.3(GLA):c.352C>T (p.Arg118Cys)	RPL36A-HNRNPH2, GLA (R118C +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease +4 more	GConflicting classifications of pathogenicity
Select item 195028	NM_000169.3(GLA):c.335G>A (p.Arg112His)	GLA, HNRNPH2 +1 more (R112H +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 36280	NM_000169.3(GLA):c.-10C>T	RPL36A-HNRNPH2, GLA	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +4 more	GBenign/Likely benign
Select item 42449	NM_000169.3(GLA):c.-12G>A	GLA, RPL36A-HNRNPH2	Single nucleotide variant (5 prime UTR variant +2 more)	Fabry disease +3 more	GBenign/Likely benign
Select item 222092	NM_000169.2(GLA):c.-105A>G	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	Fabry disease +2 more	GBenign/Likely benign