"Invitae"[submitter] AND "P2RX7"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 489390	NM_002562.6(P2RX7):c.125+1G>T	P2RX7	Single nucleotide variant (splice donor variant)	not provided	GLikely benign
Select item 723307	NM_002562.6(P2RX7):c.225C>T (p.Ile75=)	P2RX7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 725343	NM_002562.6(P2RX7):c.234T>C (p.Asn78=)	P2RX7	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 716590	NM_002562.6(P2RX7):c.437-8C>T	P2RX7	Single nucleotide variant (non-coding transcript variant +1 more)	P2RX7-related condition +1 more	GBenign/Likely benign
Select item 773687	NM_002562.6(P2RX7):c.808C>T (p.Arg270Cys)	P2RX7 (R270C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 718081	NM_002562.6(P2RX7):c.862T>C (p.Tyr288His)	P2RX7 (Y288H)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 775100	NM_002562.6(P2RX7):c.920G>A (p.Arg307Gln)	P2RX7 (R307Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 716992	NM_002562.6(P2RX7):c.959T>C (p.Leu320Pro)	P2RX7 (L320P)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 784475	NM_002562.6(P2RX7):c.1564G>A (p.Val522Ile)	P2RX7 (V522I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 444309	NM_002562.6(P2RX7):c.1733G>A (p.Arg578Gln)	P2RX7 (R578Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign