PWWP2B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 more	Copy number gain	See cases	GPathogenic
Select item 59728	GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3	ABRAXAS2, ACADSB +514 more	Copy number gain	See cases	GPathogenic
Select item 153718	GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3	LOC130004884, LOC130004885 +438 more	Copy number gain	See cases	GPathogenic
Select item 57403	GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1	LOC130004881, LOC130004882 +418 more	Copy number loss	See cases	GPathogenic
Select item 150499	GRCh38/hg38 10q26.12-26.3(chr10:120970558-133622588)x1	LOC130005014, LOC130005015 +409 more	Copy number loss	See cases	GPathogenic
Select item 154374	GRCh38/hg38 10q26.13-26.3(chr10:121588992-133620674)x1	FUOM, GLRX3 +399 more	Copy number loss	See cases	GPathogenic
Select item 154670	GRCh38/hg38 10q26.13-26.3(chr10:121918547-133620674)x1	LOC130004911, LOC130004912 +395 more	Copy number loss	See cases	GPathogenic
Select item 57376	GRCh38/hg38 10q26.13-26.3(chr10:122265252-133620674)x1	ABRAXAS2, ACADSB +383 more	Copy number loss	See cases	GPathogenic
Select item 149417	GRCh38/hg38 10q26.13-26.3(chr10:122881207-133620609)x1	LOC130004994, LOC130004995 +361 more	Copy number loss	See cases	GPathogenic
Select item 57447	GRCh38/hg38 10q26.13-26.3(chr10:123307835-133620674)x1	ABRAXAS2, ADAM12 +331 more	Copy number loss	See cases	GPathogenic
Select item 155477	GRCh38/hg38 10q26.13-26.3(chr10:123576393-133613639)x1	ABRAXAS2, ADAM12 +318 more	Copy number loss	See cases	GPathogenic
Select item 58822	GRCh38/hg38 10q26.13-26.3(chr10:123580320-133558988)x1	ABRAXAS2, ADAM12 +318 more	Copy number loss	See cases	GPathogenic
Select item 155556	GRCh38/hg38 10q26.13-26.3(chr10:123986772-133613639)x1	ABRAXAS2, ADAM12 +311 more	Copy number loss	See cases	GPathogenic
Select item 146789	GRCh38/hg38 10q26.13-26.3(chr10:124473108-133620609)x1	ABRAXAS2, ADAM12 +297 more	Copy number loss	See cases	GPathogenic
Select item 148580	GRCh38/hg38 10q26.13-26.3(chr10:124834858-133622588)x1	LOC130005026, LOC130005027 +257 more	Copy number loss	See cases	GPathogenic
Select item 150776	GRCh38/hg38 10q26.13-26.3(chr10:125021995-133620609)x1	LOC126861090, LOC126861091 +250 more	Copy number loss	See cases	GPathogenic
Select item 152830	GRCh38/hg38 10q26.13-26.3(chr10:125452905-133785874)x3	ADAM12, ADAM8 +241 more	Copy number gain	See cases	GPathogenic
Select item 144259	GRCh38/hg38 10q26.13-26.3(chr10:125657472-133620674)x1	ADAM12, ADAM8 +234 more	Copy number loss	See cases	GPathogenic
Select item 3061841	GRCh38/hg38 10q26.2-26.3(chr10:125976998-133427130)x1	CLRN3, DOCK1 +201 more	Copy number loss	Hypotonia, ataxia, and delayed development syndrome +1 more	GPathogenic
Select item 58823	GRCh38/hg38 10q26.2-26.3(chr10:126256585-133613938)x1	ADAM12, ADAM8 +207 more	Copy number loss	See cases	GPathogenic
Select item 144558	GRCh38/hg38 10q26.2-26.3(chr10:126730896-133620609)x1	LOC130005011, LOC130005012 +199 more	Copy number loss	See cases	GPathogenic
Select item 155548	GRCh38/hg38 10q26.2-26.3(chr10:126794646-133613639)x1	ADAM8, ADGRA1 +199 more	Copy number loss	See cases	GPathogenic
Select item 155174	GRCh38/hg38 10q26.2-26.3(chr10:127435985-133622588)x1	ADAM8, ADGRA1 +192 more	Copy number loss	See cases	GPathogenic
Select item 146431	GRCh38/hg38 10q26.2-26.3(chr10:127640489-132776585)x1	AS-PTPRE, BNIP3 +121 more	Copy number loss	See cases	GPathogenic
Select item 152433	GRCh38/hg38 10q26.2-26.3(chr10:127664168-133622588)x3	ADAM8, ADGRA1 +190 more	Copy number gain	See cases	GLikely pathogenic
Select item 149102	GRCh38/hg38 10q26.2-26.3(chr10:127849717-133622588)x1	ADAM8, ADGRA1 +189 more	Copy number loss	See cases	GPathogenic
Select item 149101	GRCh38/hg38 10q26.2-26.3(chr10:128549913-133622588)x1	LOC130004973, LOC130004974 +170 more	Copy number loss	See cases	GPathogenic
Select item 147736	GRCh38/hg38 10q26.3(chr10:128872419-133564028)x3	ADAM8, ADGRA1 +168 more	Copy number gain	See cases	GPathogenic
Select item 148897	GRCh38/hg38 10q26.3(chr10:129427520-133622588)x1	ADAM8, ADGRA1 +165 more	Copy number loss	See cases	GPathogenic
Select item 146234	GRCh38/hg38 10q26.3(chr10:129549258-133620674)x1	LOC130004974, LOC130004975 +163 more	Copy number loss	See cases	GPathogenic
Select item 58825	GRCh38/hg38 10q26.3(chr10:129673966-133613938)x1	ADAM8, ADGRA1 +158 more	Copy number loss	See cases	GPathogenic
Select item 155487	GRCh38/hg38 10q26.3(chr10:130625650-133613639)x1	ADAM8, ADGRA1 +135 more	Copy number loss	See cases	GUncertain significance
Select item 155695	GRCh38/hg38 10q26.3(chr10:131424682-133613639)x1	ADAM8, ADGRA1 +127 more	Copy number loss	See cases	GLikely pathogenic
Select item 57314	GRCh38/hg38 10q26.3(chr10:131457361-133620674)x1	ADAM8, ADGRA1 +127 more	Copy number loss	See cases	GPathogenic
Select item 58853	GRCh38/hg38 10q26.3(chr10:131914873-133613938)x1	ADAM8, ADGRA1 +115 more	Copy number loss	See cases	GPathogenic
Select item 146073	GRCh38/hg38 10q26.3(chr10:132178475-133620674)x1	ADAM8, ADGRA1 +105 more	Copy number loss	See cases	GPathogenic
Select item 3149955	NM_138499.4(PWWP2B):c.29C>T (p.Pro10Leu)	LOC130004990, PWWP2B (P10L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307025	NM_138499.4(PWWP2B):c.73G>A (p.Val25Met)	LOC130004990, PWWP2B (V25M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149948	NM_138499.4(PWWP2B):c.128C>G (p.Ser43Cys)	PWWP2B (S43C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367543	NM_138499.4(PWWP2B):c.203G>A (p.Arg68Gln)	PWWP2B (R68Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602426	NM_138499.4(PWWP2B):c.220G>A (p.Asp74Asn)	PWWP2B (D74N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149954	NM_138499.4(PWWP2B):c.236A>G (p.Gln79Arg)	PWWP2B (Q79R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520575	NM_138499.4(PWWP2B):c.331G>A (p.Ala111Thr)	PWWP2B (A111T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521710	NM_138499.4(PWWP2B):c.398G>A (p.Arg133Gln)	PWWP2B (R133Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149956	NM_138499.4(PWWP2B):c.449G>A (p.Arg150His)	PWWP2B (R150H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283375	NM_138499.4(PWWP2B):c.452C>T (p.Thr151Met)	PWWP2B (T151M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236046	NM_138499.4(PWWP2B):c.455G>A (p.Arg152Gln)	PWWP2B (R152Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149957	NM_138499.4(PWWP2B):c.481C>G (p.Pro161Ala)	PWWP2B (P161A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149958	NM_138499.4(PWWP2B):c.482C>T (p.Pro161Leu)	PWWP2B (P161L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149959	NM_138499.4(PWWP2B):c.488G>A (p.Arg163His)	PWWP2B (R163H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149960	NM_138499.4(PWWP2B):c.509G>A (p.Arg170His)	PWWP2B (R170H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467307	NM_138499.4(PWWP2B):c.563C>T (p.Pro188Leu)	PWWP2B (P188L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515091	NM_138499.4(PWWP2B):c.590C>T (p.Ala197Val)	PWWP2B (A197V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252595	NM_138499.4(PWWP2B):c.638G>A (p.Arg213His)	PWWP2B (R213H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149961	NM_138499.4(PWWP2B):c.649G>C (p.Glu217Gln)	PWWP2B (E217Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516970	NM_138499.4(PWWP2B):c.655G>A (p.Glu219Lys)	PWWP2B (E219K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549262	NM_138499.4(PWWP2B):c.706A>T (p.Arg236Trp)	PWWP2B (R236W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379880	NM_138499.4(PWWP2B):c.709C>T (p.Arg237Cys)	PWWP2B (R237C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149962	NM_138499.4(PWWP2B):c.841C>T (p.Arg281Cys)	PWWP2B (R281C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2225769	NM_138499.4(PWWP2B):c.868G>A (p.Gly290Ser)	PWWP2B (G290S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231576	NM_138499.4(PWWP2B):c.883G>A (p.Glu295Lys)	PWWP2B (E295K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149963	NM_138499.4(PWWP2B):c.895A>G (p.Arg299Gly)	PWWP2B (R299G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149964	NM_138499.4(PWWP2B):c.898G>C (p.Glu300Gln)	PWWP2B (E300Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149965	NM_138499.4(PWWP2B):c.911G>A (p.Arg304Gln)	PWWP2B (R304Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388910	NM_138499.4(PWWP2B):c.923C>T (p.Ala308Val)	PWWP2B (A308V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546787	NM_138499.4(PWWP2B):c.970G>A (p.Ala324Thr)	PWWP2B (A324T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149966	NM_138499.4(PWWP2B):c.979G>A (p.Asp327Asn)	PWWP2B (D327N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149943	NM_138499.4(PWWP2B):c.1000C>T (p.Arg334Cys)	PWWP2B (R334C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345669	NM_138499.4(PWWP2B):c.1001G>T (p.Arg334Leu)	PWWP2B (R334L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324180	NM_138499.4(PWWP2B):c.1001G>C (p.Arg334Pro)	PWWP2B (R334P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293128	NM_138499.4(PWWP2B):c.1015C>A (p.Arg339Ser)	PWWP2B (R339S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545308	NM_138499.4(PWWP2B):c.1084C>T (p.Arg362Trp)	PWWP2B (R362W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355828	NM_138499.4(PWWP2B):c.1126G>A (p.Gly376Arg)	PWWP2B (G376R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149945	NM_138499.4(PWWP2B):c.1176G>C (p.Lys392Asn)	PWWP2B (K392N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149946	NM_138499.4(PWWP2B):c.1180T>C (p.Cys394Arg)	PWWP2B (C394R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454662	NM_138499.4(PWWP2B):c.1189G>A (p.Gly397Ser)	PWWP2B (G397S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149947	NM_138499.4(PWWP2B):c.1231C>G (p.Pro411Ala)	PWWP2B (P411A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332569	NM_138499.4(PWWP2B):c.1270A>G (p.Ser424Gly)	PWWP2B (S424G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529204	NM_138499.4(PWWP2B):c.1304G>A (p.Gly435Asp)	PWWP2B (G435D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370259	NM_138499.4(PWWP2B):c.1319C>T (p.Pro440Leu)	PWWP2B (P440L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227872	NM_138499.4(PWWP2B):c.1322C>T (p.Ala441Val)	PWWP2B (A441V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404917	NM_138499.4(PWWP2B):c.1340C>T (p.Ser447Leu)	PWWP2B (S447L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386884	NM_138499.4(PWWP2B):c.1350C>A (p.His450Gln)	PWWP2B (H450Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149950	NM_138499.4(PWWP2B):c.1351G>A (p.Gly451Ser)	PWWP2B (G451S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149951	NM_138499.4(PWWP2B):c.1360G>A (p.Ala454Thr)	PWWP2B (A454T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346352	NM_138499.4(PWWP2B):c.1375A>G (p.Arg459Gly)	PWWP2B (R459G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354484	NM_138499.4(PWWP2B):c.1384C>T (p.Arg462Cys)	PWWP2B (R462C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467852	NM_138499.4(PWWP2B):c.1415T>C (p.Leu472Pro)	PWWP2B (L472P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149952	NM_138499.4(PWWP2B):c.1419C>G (p.His473Gln)	PWWP2B (H473Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557209	NM_138499.4(PWWP2B):c.1433C>T (p.Ser478Leu)	PWWP2B (S478L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149953	NM_138499.4(PWWP2B):c.1441A>T (p.Ile481Phe)	PWWP2B (I481F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376040	NM_138499.4(PWWP2B):c.1669C>T (p.Arg557Cys)	PWWP2B (R557C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466484	NM_138499.4(PWWP2B):c.1691G>A (p.Arg564Gln)	PWWP2B (R564Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148924	GRCh37/hg19 10q26.12-26.3(chr10:122331280-135426386)x1	ABRAXAS2, ACADSB +80 more	Copy number loss	not provided	GPathogenic
Select item 3063175	GRCh37/hg19 10q26.13-26.3(chr10:125987494-135427143)x1	ABRAXAS2, ADAM12 +55 more	Copy number loss	not specified	GPathogenic
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063154	GRCh37/hg19 10q26.3(chr10:131398569-135427143)x1	ADAM8, ADGRA1 +31 more	Copy number loss	not specified	GPathogenic

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