ClinVar for Gene (Select 10570) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3273718	NM_006426.3(DPYSL4):c.998A>G (p.His333Arg)	DPYSL4 (H333R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273716	NM_006426.3(DPYSL4):c.1057G>A (p.Glu353Lys)	DPYSL4 (E353K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273715	NM_006426.3(DPYSL4):c.925C>G (p.Pro309Ala)	DPYSL4 (P309A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273714	NM_006426.3(DPYSL4):c.539A>G (p.Gln180Arg)	DPYSL4 (Q180R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273713	NM_006426.3(DPYSL4):c.605G>C (p.Gly202Ala)	DPYSL4 (G202A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273712	NM_006426.3(DPYSL4):c.1567C>T (p.Pro523Ser)	DPYSL4 (P523S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273711	NM_006426.3(DPYSL4):c.1333G>A (p.Val445Met)	DPYSL4 (V445M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273710	NM_006426.3(DPYSL4):c.1477G>A (p.Gly493Ser)	DPYSL4 (G493S)	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 3085683	NM_006426.3(DPYSL4):c.691G>A (p.Val231Met)	DPYSL4 (V231M)	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 3085681	NM_006426.3(DPYSL4):c.38C>T (p.Thr13Met)	DPYSL4 (T13M)	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 3085679	NM_006426.3(DPYSL4):c.1487G>A (p.Arg496His)	DPYSL4 (R496H)	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 3085677	NM_006426.3(DPYSL4):c.1325C>T (p.Ala442Val)	DPYSL4 (A442V)	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 3085675	NM_006426.3(DPYSL4):c.1046C>T (p.Ala349Val)	DPYSL4 (A349V)	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 3085673	NM_006426.3(DPYSL4):c.1004C>T (p.Thr335Ile)	DPYSL4 (T335I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3061841	GRCh38/hg38 10q26.2-26.3(chr10:125976998-133427130)x1	LOC126861083, LOC126861084 +201 more	Copy number loss	Duane syndrome type 1 +1 more	GPathogenic
Select item 3024574	GRCh37/hg19 10q26.3(chr10:131299771-135441274)x1	ADAM8, ADGRA1 +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	TCERG1L, TCERG1L-AS1 +38 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
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 2596801	NM_006426.3(DPYSL4):c.1507G>A (p.Val503Ile)	DPYSL4 (V503I)	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 2590698	NM_006426.3(DPYSL4):c.241C>A (p.Leu81Met)	DPYSL4 (L81M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574693	GRCh37/hg19 10q26.13-26.3(chr10:123477898-135427143)	GLRX3, GPR26 +77 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
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 2542204	NM_006426.3(DPYSL4):c.925C>T (p.Pro309Ser)	DPYSL4 (P309S)	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 2510699	NM_006426.3(DPYSL4):c.1466C>T (p.Ala489Val)	DPYSL4 (A489V)	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 2498475	GRCh37/hg19 10q26.12-26.3(chr10:122610933-135439810)x1	ABRAXAS2, ACADSB +80 more	Copy number loss	not provided	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 2466046	NM_006426.3(DPYSL4):c.1244A>G (p.Lys415Arg)	DPYSL4 (K415R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2456492	NM_006426.3(DPYSL4):c.1319G>A (p.Arg440Gln)	DPYSL4 (R440Q)	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 2406491	NM_006426.3(DPYSL4):c.151G>A (p.Val51Ile)	DPYSL4 (V51I)	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 2366184	NM_006426.3(DPYSL4):c.1562C>G (p.Ser521Cys)	DPYSL4 (S521C)	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 2358497	NM_006426.3(DPYSL4):c.938C>T (p.Thr313Met)	DPYSL4 (T313M)	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 2339718	NM_006426.3(DPYSL4):c.1478G>A (p.Gly493Asp)	DPYSL4 (G493D)	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 2313225	NM_006426.3(DPYSL4):c.1339A>T (p.Ile447Leu)	DPYSL4 (I447L)	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 2238796	NM_006426.3(DPYSL4):c.805C>T (p.Arg269Cys)	DPYSL4 (R269C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2218999	NM_006426.3(DPYSL4):c.1388C>T (p.Pro463Leu)	DPYSL4 (P463L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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
Select item 1527616	GRCh37/hg19 10q26.2-26.3(chr10:128465436-135427143)	ADAM8, ADGRA1 +38 more	Copy number loss	not specified	GPathogenic
Select item 1527609	GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143)	FAM24A, FAM24B +80 more	Copy number loss	not specified	GPathogenic
Select item 1527608	GRCh37/hg19 10q26.12-26.3(chr10:122125760-135062972)	ABRAXAS2, ACADSB +68 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic
Select item 1180521	GRCh37/hg19 10q25.3-26.3(chr10:118247181-135435319)x3	ECHS1, EDRF1 +110 more	Copy number gain	not provided	GPathogenic
Select item 1172570	GRCh37/hg19 10q26.12-26.3(chr10:122785023-135457222)x1	FANK1, FGFR2 +79 more	Copy number loss	See cases	GPathogenic
Select item 1077185	Single allele	STK32C, SYCE1 +43 more	Deletion	Distal 10q deletion syndrome	GPathogenic
Select item 1047895	GRCh37/hg19 10q26.2-26.3(chr10:129483682-135434178)	LINC01166, CLRN3 +35 more	Copy number loss	Global developmental delay	GPathogenic
Select item 979910	GRCh37/hg19 10q26.3(chr10:133833614-134198380)x3	JAKMIP3, STK32C +2 more	Copy number gain	not provided	GLikely benign
Select item 979909	GRCh37/hg19 10q26.2-26.3(chr10:129031265-135427143)x1	PPP2R2D, BNIP3 +37 more	Copy number loss	not provided	GPathogenic
Select item 815387	GRCh37/hg19 10q26.2-26.3(chr10:129381095-135427143)x1	ADAM8, ADGRA1 +35 more	Copy number loss	not provided	GPathogenic
Select item 815385	GRCh37/hg19 10q26.2-26.3(chr10:129009772-135427143)x1	DPYSL4, INPP5A +37 more	Copy number loss	not provided	GPathogenic
Select item 815379	GRCh37/hg19 10q26.11-26.3(chr10:119996339-135427143)x3	FGFR2, FOXI2 +95 more	Copy number gain	not provided	GPathogenic
Select item 688100	GRCh37/hg19 10q26.13-26.3(chr10:124988334-135427143)x3	ABRAXAS2, ADAM12 +58 more	Copy number gain	not provided	GPathogenic
Select item 687114	GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3	ABLIM1, ABRAXAS2 +130 more	Copy number gain	not provided	GPathogenic
Select item 625657	GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not provided	GPathogenic
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 563801	GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3	ABLIM1, ABRAXAS2 +157 more	Copy number gain	not provided	GPathogenic
Select item 563799	GRCh37/hg19 10q26.11-26.3(chr10:121269222-135427143)x3	ABRAXAS2, ACADSB +86 more	Copy number gain	not provided	GPathogenic
Select item 563798	GRCh37/hg19 10q26.12-26.3(chr10:122509781-135427143)x1	ABRAXAS2, ACADSB +79 more	Copy number loss	not provided	GPathogenic
Select item 563797	GRCh37/hg19 10q26.12-26.3(chr10:123019239-135427143)x1	ABRAXAS2, ACADSB +78 more	Copy number loss	not provided	GPathogenic
Select item 563796	GRCh37/hg19 10q26.13-26.3(chr10:125450893-135427143)x1	ABRAXAS2, ADAM12 +58 more	Copy number loss	not provided	GPathogenic
Select item 563794	GRCh37/hg19 10q26.13-26.3(chr10:127375792-135427143)x1	TCERG1L, LINC01166 +46 more	Copy number loss	not provided	GPathogenic
Select item 563785	GRCh37/hg19 10q26.3(chr10:131949020-135427143)x1	CFAP46, ECHS1 +29 more	Copy number loss	not provided	GPathogenic
Select item 563776	GRCh37/hg19 10q26.3(chr10:133574560-135296619)x4	STK32C, ECHS1 +24 more	Copy number gain	not provided	GUncertain significance
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443838	GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3	ABLIM1, ABRAXAS2 +151 more	Copy number gain	See cases	GPathogenic
Select item 443505	GRCh37/hg19 10q26.2-26.3(chr10:129007673-135427143)x3	ADAM8, ADGRA1 +37 more	Copy number gain	See cases	GPathogenic
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 442903	GRCh37/hg19 10q26.2-26.3(chr10:127658004-135427143)x1	ADAM12, ADAM8 +41 more	Copy number loss	See cases	GPathogenic

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