DPYSL4[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 2468198	NM_006426.3(DPYSL4):c.32G>A (p.Arg11Gln)	DPYSL4 (R11Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085681	NM_006426.3(DPYSL4):c.38C>T (p.Thr13Met)	DPYSL4 (T13M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085682	NM_006426.3(DPYSL4):c.46C>T (p.Arg16Cys)	DPYSL4 (R16C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542768	NM_006426.3(DPYSL4):c.133A>G (p.Ile45Val)	DPYSL4 (I45V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406491	NM_006426.3(DPYSL4):c.151G>A (p.Val51Ile)	DPYSL4 (V51I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590698	NM_006426.3(DPYSL4):c.241C>A (p.Leu81Met)	DPYSL4 (L81M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466033	NM_006426.3(DPYSL4):c.261C>A (p.Asp87Glu)	DPYSL4 (D87E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337793	NM_006426.3(DPYSL4):c.262G>A (p.Asp88Asn)	DPYSL4 (D88N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345793	NM_006426.3(DPYSL4):c.308T>C (p.Met103Thr)	DPYSL4 (M103T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341595	NM_006426.3(DPYSL4):c.331G>A (p.Asp111Asn)	DPYSL4 (D111N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595961	NM_006426.3(DPYSL4):c.384C>G (p.Asp128Glu)	DPYSL4 (D128E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248501	NM_006426.3(DPYSL4):c.502A>G (p.Met168Val)	DPYSL4 (M168V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409450	NM_006426.3(DPYSL4):c.517C>T (p.Arg173Trp)	DPYSL4 (R173W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359041	NM_006426.3(DPYSL4):c.646G>A (p.Gly216Ser)	DPYSL4 (G216S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085683	NM_006426.3(DPYSL4):c.691G>A (p.Val231Met)	DPYSL4 (V231M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238796	NM_006426.3(DPYSL4):c.805C>T (p.Arg269Cys)	DPYSL4 (R269C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525734	NM_006426.3(DPYSL4):c.856G>A (p.Asp286Asn)	DPYSL4 (D286N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542204	NM_006426.3(DPYSL4):c.925C>T (p.Pro309Ser)	DPYSL4 (P309S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358497	NM_006426.3(DPYSL4):c.938C>T (p.Thr313Met)	DPYSL4 (T313M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085673	NM_006426.3(DPYSL4):c.1004C>T (p.Thr335Ile)	DPYSL4 (T335I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085674	NM_006426.3(DPYSL4):c.1044C>A (p.Phe348Leu)	DPYSL4 (F348L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085675	NM_006426.3(DPYSL4):c.1046C>T (p.Ala349Val)	DPYSL4 (A349V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405853	NM_006426.3(DPYSL4):c.1180T>G (p.Phe394Val)	DPYSL4 (F394V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466046	NM_006426.3(DPYSL4):c.1244A>G (p.Lys415Arg)	DPYSL4 (K415R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2232735	NM_006426.3(DPYSL4):c.1255A>T (p.Ile419Phe)	DPYSL4 (I419F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507657	NM_006426.3(DPYSL4):c.1277A>G (p.Asn426Ser)	DPYSL4 (N426S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085676	NM_006426.3(DPYSL4):c.1318C>T (p.Arg440Trp)	DPYSL4 (R440W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456492	NM_006426.3(DPYSL4):c.1319G>A (p.Arg440Gln)	DPYSL4 (R440Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085677	NM_006426.3(DPYSL4):c.1325C>T (p.Ala442Val)	DPYSL4 (A442V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313225	NM_006426.3(DPYSL4):c.1339A>T (p.Ile447Leu)	DPYSL4 (I447L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611620	NM_006426.3(DPYSL4):c.1369G>A (p.Gly457Arg)	DPYSL4 (G457R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218999	NM_006426.3(DPYSL4):c.1388C>T (p.Pro463Leu)	DPYSL4 (P463L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510699	NM_006426.3(DPYSL4):c.1466C>T (p.Ala489Val)	DPYSL4 (A489V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339718	NM_006426.3(DPYSL4):c.1478G>A (p.Gly493Asp)	DPYSL4 (G493D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085678	NM_006426.3(DPYSL4):c.1486C>T (p.Arg496Cys)	DPYSL4 (R496C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085679	NM_006426.3(DPYSL4):c.1487G>A (p.Arg496His)	DPYSL4 (R496H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085680	NM_006426.3(DPYSL4):c.1501G>A (p.Gly501Arg)	DPYSL4 (G501R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596801	NM_006426.3(DPYSL4):c.1507G>A (p.Val503Ile)	DPYSL4 (V503I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366184	NM_006426.3(DPYSL4):c.1562C>G (p.Ser521Cys)	DPYSL4 (S521C)	Single nucleotide variant (missense variant)	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
Select item 3063149	GRCh37/hg19 10q26.13-26.3(chr10:126127397-135427143)x1	ABRAXAS2, ADAM12 +54 more	Copy number loss	not specified	GPathogenic
Select item 3024574	GRCh37/hg19 10q26.3(chr10:131299771-135441274)x1	CYP2E1, MTG1 +32 more	Copy number loss	not provided	GPathogenic
Select item 2685393	GRCh37/hg19 10q26.3(chr10:133435524-135427143)x1	ADAM8, ADGRA1 +26 more	Copy number loss	not provided	GUncertain significance
Select item 2685391	GRCh37/hg19 10q26.2-26.3(chr10:128925940-135427143)x1	ADAM8, ADGRA1 +38 more	Copy number loss	not provided	GPathogenic
Select item 2684628	GRCh37/hg19 10q26.3(chr10:132852693-134505024)x3	BNIP3, DPYSL4 +9 more	Copy number gain	not provided	GUncertain significance
Select item 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2671973	GRCh37/hg19 10q26.2-26.3(chr10:128289206-135427143)x1	ADAM8, ADGRA1 +38 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2580338	GRCh37/hg19 10q26.13-26.3(chr10:124895517-135440296)x1	ABRAXAS2, ADAM12 +62 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574693	GRCh37/hg19 10q26.13-26.3(chr10:123477898-135427143)	ABRAXAS2, ACADSB +77 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2498475	GRCh37/hg19 10q26.12-26.3(chr10:122610933-135439810)x1	ABRAXAS2, ACADSB +80 more	Copy number loss	not provided	GPathogenic
Select item 1809436	GRCh37/hg19 10q26.3(chr10:132631529-135354972)x1	ADAM8, ADGRA1 +27 more	Copy number loss	not provided	GUncertain significance
Select item 1808640	GRCh37/hg19 10q26.2-26.3(chr10:130043370-135345340)x1	ADAM8, ADGRA1 +30 more	Copy number loss	not provided	GPathogenic
Select item 1711099	GRCh37/hg19 10q26.13-26.3(chr10:127198625-135427143)x3	ADAM12, ADAM8 +47 more	Copy number gain	See cases	GPathogenic
Select item 1711096	GRCh37/hg19 10q26.13-26.3(chr10:126914469-135427143)x1	ADAM12, ADAM8 +47 more	Copy number loss	See cases	GPathogenic
Select item 1706486	GRCh37/hg19 10q26.2-26.3(chr10:129605105-135427143)x1	GLRX3, INPP5A +34 more	Copy number loss	See cases	GPathogenic
Select item 1527622	GRCh37/hg19 10q26.2-26.3(chr10:129914228-135427143)	ADAM8, ADGRA1 +32 more	Copy number loss	not specified	GPathogenic

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