PWWP3B[gene] and "single gene"[properties] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 718698	NM_001171020.2(PWWP3B):c.21A>G (p.Leu7=)	PWWP3B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1328352	NM_001171020.2(PWWP3B):c.27C>A (p.Asn9Lys)	PWWP3B (N9K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2535784	NM_001171020.2(PWWP3B):c.85A>G (p.Ser29Gly)	PWWP3B (S29G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150040	NM_001171020.2(PWWP3B):c.90G>T (p.Lys30Asn)	PWWP3B (K30N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311798	NM_001171020.2(PWWP3B):c.100G>A (p.Ala34Thr)	PWWP3B (A34T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3150021	NM_001171020.2(PWWP3B):c.124C>T (p.Leu42Phe)	PWWP3B (L42F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609935	NM_001171020.2(PWWP3B):c.152A>G (p.Asp51Gly)	PWWP3B (D51G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785706	NM_001171020.2(PWWP3B):c.236C>T (p.Pro79Leu)	PWWP3B (P79L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3311801	NM_001171020.2(PWWP3B):c.247G>A (p.Glu83Lys)	PWWP3B (E83K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150028	NM_001171020.2(PWWP3B):c.379G>A (p.Asp127Asn)	PWWP3B (D127N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150029	NM_001171020.2(PWWP3B):c.388C>T (p.Pro130Ser)	PWWP3B (P130S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150030	NM_001171020.2(PWWP3B):c.401A>T (p.Tyr134Phe)	PWWP3B (Y134F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311797	NM_001171020.2(PWWP3B):c.404G>A (p.Arg135Gln)	PWWP3B (R135Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150031	NM_001171020.2(PWWP3B):c.478A>G (p.Ser160Gly)	PWWP3B (S160G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150032	NM_001171020.2(PWWP3B):c.595C>T (p.Leu199Phe)	PWWP3B (L199F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150033	NM_001171020.2(PWWP3B):c.637G>C (p.Asp213His)	PWWP3B (D213H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605607	NM_001171020.2(PWWP3B):c.652A>T (p.Met218Leu)	PWWP3B (M218L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150034	NM_001171020.2(PWWP3B):c.694A>G (p.Lys232Glu)	PWWP3B (K232E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613270	NM_001171020.2(PWWP3B):c.698A>T (p.Asp233Val)	PWWP3B (D233V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465602	NM_001171020.2(PWWP3B):c.710C>T (p.Ala237Val)	PWWP3B (A237V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3150036	NM_001171020.2(PWWP3B):c.752C>T (p.Pro251Leu)	PWWP3B (P251L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150037	NM_001171020.2(PWWP3B):c.785G>A (p.Cys262Tyr)	PWWP3B (C262Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150038	NM_001171020.2(PWWP3B):c.809C>G (p.Ser270Cys)	PWWP3B (S270C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551533	NM_001171020.2(PWWP3B):c.862A>G (p.Asn288Asp)	PWWP3B (N288D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150039	NM_001171020.2(PWWP3B):c.874G>T (p.Asp292Tyr)	PWWP3B (D292Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311800	NM_001171020.2(PWWP3B):c.878C>T (p.Thr293Ile)	PWWP3B (T293I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150041	NM_001171020.2(PWWP3B):c.932G>A (p.Gly311Glu)	PWWP3B (G311E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150042	NM_001171020.2(PWWP3B):c.994C>T (p.His332Tyr)	PWWP3B (H332Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718793	NM_001171020.2(PWWP3B):c.1001T>C (p.Met334Thr)	PWWP3B (M334T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3150019	NM_001171020.2(PWWP3B):c.1024A>G (p.Arg342Gly)	PWWP3B (R342G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311799	NM_001171020.2(PWWP3B):c.1112A>G (p.Asp371Gly)	PWWP3B (D371G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462949	NM_001171020.2(PWWP3B):c.1123G>A (p.Asp375Asn)	PWWP3B (D375N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150020	NM_001171020.2(PWWP3B):c.1126G>A (p.Glu376Lys)	PWWP3B (E376K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475664	NM_001171020.2(PWWP3B):c.1300A>C (p.Lys434Gln)	PWWP3B (K434Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150022	NM_001171020.2(PWWP3B):c.1358T>C (p.Met453Thr)	PWWP3B (M453T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150023	NM_001171020.2(PWWP3B):c.1414C>A (p.Leu472Ile)	PWWP3B (L472I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539829	NM_001171020.2(PWWP3B):c.1522G>A (p.Asp508Asn)	PWWP3B (D508N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311802	NM_001171020.2(PWWP3B):c.1599G>C (p.Lys533Asn)	PWWP3B (K533N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150024	NM_001171020.2(PWWP3B):c.1645C>T (p.Arg549Trp)	PWWP3B (R549W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150025	NM_001171020.2(PWWP3B):c.1733A>T (p.Lys578Ile)	PWWP3B (K578I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150026	NM_001171020.2(PWWP3B):c.1773G>T (p.Arg591Ser)	PWWP3B (R591S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2661131	NM_001171020.2(PWWP3B):c.1926A>G (p.Pro642=)	PWWP3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3150027	NM_001171020.2(PWWP3B):c.2079T>G (p.Asn693Lys)	PWWP3B (N693K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 395578	GRCh37/hg19 Xq22.3(chrX:105401925-105450552)x3	PWWP3B	Copy number gain	See cases	GLikely benign

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Items: 44