"PreventionGenetics, part of Exact Sciences"[submitter] AND "P2RX2"[ge - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 737628	NM_170682.4(P2RX2):c.42C>T (p.Ala14=)	P2RX2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 737145	NM_170682.4(P2RX2):c.62G>A (p.Cys21Tyr)	P2RX2 (C21Y)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 226983	NM_170682.4(P2RX2):c.186C>T (p.Ile62=)	P2RX2 (R40C)	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign
Select item 3035401	NM_170682.4(P2RX2):c.222C>T (p.Pro74=)	P2RX2 (R52*)	Single nucleotide variant (synonymous variant +2 more)	P2RX2-related condition	GLikely benign
Select item 710972	NM_170682.4(P2RX2):c.444C>T (p.Asp148=)	P2RX2	Single nucleotide variant (synonymous variant +1 more)	P2RX2-related condition +1 more	GLikely benign
Select item 501253	NM_170682.4(P2RX2):c.491A>G (p.Gln164Arg)	P2RX2 (Q164R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 1207937	NM_170682.4(P2RX2):c.673C>G (p.Arg225Gly)	P2RX2 (A189G +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3034576	NM_170682.4(P2RX2):c.774+14A>T	P2RX2	Single nucleotide variant (intron variant)	P2RX2-related condition	GLikely benign
Select item 226989	NM_170682.4(P2RX2):c.775-8_775-6del	P2RX2	Microsatellite (intron variant)	P2RX2-related condition +2 more	GBenign
Select item 226990	NM_170682.4(P2RX2):c.831G>A (p.Ser277=)	P2RX2	Single nucleotide variant (synonymous variant)	P2RX2-related condition +2 more	GBenign
Select item 3057925	NM_170682.4(P2RX2):c.834G>A (p.Glu278=)	P2RX2	Single nucleotide variant (synonymous variant)	P2RX2-related condition	GLikely benign
Select item 2630430	NM_170682.4(P2RX2):c.898_900del (p.Asn300del)	P2RX2 (N208del +4 more)	Deletion (inframe_deletion)	P2RX2-related condition	GUncertain significance
Select item 1201136	NM_170682.4(P2RX2):c.906-7A>T	P2RX2	Single nucleotide variant (intron variant)	P2RX2-related condition +1 more	GBenign/Likely benign
Select item 514244	NM_170682.4(P2RX2):c.922A>G (p.Lys308Glu)	P2RX2 (K236E +4 more)	Single nucleotide variant (missense variant)	P2RX2-related condition +2 more	GLikely benign
Select item 2628721	NM_170682.4(P2RX2):c.970C>T (p.Arg324Cys)	P2RX2 (R232C +4 more)	Single nucleotide variant (missense variant)	P2RX2-related condition +1 more	GUncertain significance
Select item 3042326	NM_170682.4(P2RX2):c.996+27G>A	P2RX2	Single nucleotide variant (intron variant)	P2RX2-related condition	GLikely benign
Select item 2067845	NM_170682.4(P2RX2):c.1077C>T (p.Cys359=)	P2RX2	Single nucleotide variant (synonymous variant +1 more)	P2RX2-related condition +1 more	GLikely benign
Select item 227831	NM_170682.4(P2RX2):c.1413C>T (p.Leu471=)	P2RX2	Single nucleotide variant (synonymous variant +1 more)	P2RX2-related condition +2 more	GLikely benign