P2RX6[gene] and "single gene"[properties] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2605709	NM_005446.5(P2RX6):c.50C>T (p.Thr17Met)	P2RX6 (T17M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207650	NM_005446.5(P2RX6):c.110G>T (p.Arg37Leu)	P2RX6 (R37L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2378862	NM_005446.5(P2RX6):c.155A>G (p.Tyr52Cys)	P2RX6 (Y52C)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 3207652	NM_005446.5(P2RX6):c.161T>G (p.Val54Gly)	P2RX6 (V54G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3207653	NM_005446.5(P2RX6):c.178G>T (p.Ala60Ser)	P2RX6 (A34S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479983	NM_005446.5(P2RX6):c.217T>A (p.Phe73Ile)	P2RX6 (F47I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3207654	NM_005446.5(P2RX6):c.223A>G (p.Ile75Val)	P2RX6 (I49V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2522373	NM_005446.5(P2RX6):c.233A>G (p.Lys78Arg)	P2RX6 (K52R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367785	NM_005446.5(P2RX6):c.250G>A (p.Val84Ile)	P2RX6 (V58I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207656	NM_005446.5(P2RX6):c.314A>T (p.Gln105Leu)	P2RX6 (Q79L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220843	NM_005446.5(P2RX6):c.325G>A (p.Val109Met)	P2RX6 (V83M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2332008	NM_005446.5(P2RX6):c.392C>T (p.Pro131Leu)	P2RX6 (P107L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409438	NM_005446.5(P2RX6):c.461A>G (p.His154Arg)	P2RX6 (H154R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207657	NM_005446.5(P2RX6):c.563C>T (p.Pro188Leu)	P2RX6 (P162L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303796	NM_005446.5(P2RX6):c.718G>A (p.Val240Met)	P2RX6 (V190M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400069	NM_005446.5(P2RX6):c.728T>C (p.Ile243Thr)	P2RX6 (I217T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207658	NM_005446.5(P2RX6):c.745A>G (p.Lys249Glu)	P2RX6 (K225E +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2317516	NM_005446.5(P2RX6):c.779T>C (p.Leu260Pro)	P2RX6 (L234P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613841	NM_005446.5(P2RX6):c.852C>G (p.His284Gln)	P2RX6 (H258Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220178	NM_005446.5(P2RX6):c.857C>A (p.Ser286Tyr)	P2RX6 (S236Y +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329637	NM_005446.5(P2RX6):c.899C>T (p.Thr300Ile)	P2RX6 (L296F +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303795	NM_005446.5(P2RX6):c.916C>A (p.Pro306Thr)	P2RX6 (N301K +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593714	NM_005446.5(P2RX6):c.917C>T (p.Pro306Leu)	P2RX6 (P282L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207659	NM_005446.5(P2RX6):c.931C>T (p.Arg311Cys)	P2RX6 (R160C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601191	NM_005446.5(P2RX6):c.970C>T (p.Leu324Phe)	P2RX6 (L298F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207648	NM_005446.5(P2RX6):c.1001T>G (p.Leu334Arg)	P2RX6 (L183R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396832	NM_005446.5(P2RX6):c.1030G>A (p.Gly344Arg)	P2RX6 (G318R +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3207649	NM_005446.5(P2RX6):c.1048G>A (p.Val350Met)	P2RX6 (V300M +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2379450	NM_005446.5(P2RX6):c.1139C>T (p.Pro380Leu)	P2RX6 (P328L +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303797	NM_005446.5(P2RX6):c.1144G>A (p.Ala382Thr)	P2RX6 (A330T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358473	NM_005446.5(P2RX6):c.1193G>A (p.Arg398Gln)	P2RX6 (R247Q +8 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2474021	NM_005446.5(P2RX6):c.1198G>T (p.Ala400Ser)	P2RX6 (A400S +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336228	NM_005446.5(P2RX6):c.1213C>T (p.Arg405Trp)	P2RX6 (R383W +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207651	NM_005446.5(P2RX6):c.1214G>A (p.Arg405Gln)	P2RX6 (R355Q +8 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2537541	NM_005446.5(P2RX6):c.1235C>A (p.Thr412Lys)	P2RX6 (T360K +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303794	NM_005446.5(P2RX6):c.1315G>A (p.Gly439Arg)	P2RX6 (G288R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 394293	GRCh37/hg19 22q11.21(chr22:21368160-21377192)x3	P2RX6	Copy number gain	See cases	GBenign

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Items: 37