C0002986[trait identifier] AND "Blueprint Genetics"[submitter] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155821	NM_033118.4(MYLK2):c.902C>A (p.Thr301Asn)	MYLK2 (T301N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GLikely benign
Select item 222643	NM_000169.3(GLA):c.1229C>T (p.Thr410Ile)	GLA, RPL36A-HNRNPH2 (T410I +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GLikely pathogenic
Select item 222644	NM_000169.3(GLA):c.823del (p.Leu275fs)	GLA, RPL36A-HNRNPH2 (L275fs +1 more)	Deletion (frameshift variant +2 more)	Fabry disease	GLikely pathogenic
Select item 578114	NM_000169.3(GLA):c.692A>C (p.Asp231Ala)	GLA, RPL36A-HNRNPH2 (D231A +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 10733	NM_000169.3(GLA):c.679C>T (p.Arg227Ter)	GLA, RPL36A-HNRNPH2 (R227* +1 more)	Single nucleotide variant (nonsense +2 more)	Fabry disease +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 10768	NM_000169.3(GLA):c.640-801G>A	GLA, RPL36A-HNRNPH2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +4 more	GPathogenic
Select item 636547	NM_000169.3(GLA):c.640-814T>C	GLA, RPL36A-HNRNPH2	Single nucleotide variant (non-coding transcript variant +1 more)	Fabry disease +1 more	GConflicting classifications of pathogenicity
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