118987[geneid] - 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 58782	GRCh38/hg38 10q25.1-26.11(chr10:107191100-118761489)x1	ABLIM1, ACSL5 +308 more	Copy number loss	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 148437	GRCh38/hg38 10q25.2-26.12(chr10:112701186-120970617)x3	LOC126861050, LOC126861051 +248 more	Copy number gain	See cases	GLikely pathogenic
Select item 154913	GRCh38/hg38 10q25.3-26.11(chr10:117205385-118509587)x3	CASC2, EMX2 +31 more	Copy number gain	See cases	GUncertain significance
Select item 1175418	NM_003054.6(SLC18A2):c.*232A>C	PDZD8, SLC18A2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2621855	NM_173791.5(PDZD8):c.3389A>G (p.Glu1130Gly)	PDZD8 (E1130G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544219	NM_173791.5(PDZD8):c.3317G>C (p.Ser1106Thr)	PDZD8 (S1106T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211195	NM_173791.5(PDZD8):c.3191C>T (p.Thr1064Ile)	PDZD8 (T1064I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211194	NM_173791.5(PDZD8):c.3166T>G (p.Ser1056Ala)	PDZD8 (S1056A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211193	NM_173791.5(PDZD8):c.3015G>T (p.Glu1005Asp)	PDZD8 (E1005D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305666	NM_173791.5(PDZD8):c.2969C>A (p.Pro990His)	PDZD8 (P990H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681479	NM_173791.5(PDZD8):c.2932G>A (p.Glu978Lys)	PDZD8 (E978K)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2541157	NM_173791.5(PDZD8):c.2890G>A (p.Val964Ile)	PDZD8 (V964I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460850	NM_173791.5(PDZD8):c.2884G>T (p.Asp962Tyr)	PDZD8 (D962Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305663	NM_173791.5(PDZD8):c.2819A>G (p.Asn940Ser)	PDZD8 (N940S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063702	NM_173791.5(PDZD8):c.2786A>G (p.Asn929Ser)	PDZD8 (N929S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531861	NM_173791.5(PDZD8):c.2773A>G (p.Ser925Gly)	PDZD8 (S925G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205980	NM_173791.5(PDZD8):c.2689C>G (p.Arg897Gly)	PDZD8 (R897G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594498	NM_173791.5(PDZD8):c.2446C>T (p.His816Tyr)	PDZD8 (H816Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640871	NM_173791.5(PDZD8):c.2411A>G (p.His804Arg)	PDZD8 (H804R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2291075	NM_173791.5(PDZD8):c.2367T>G (p.Ile789Met)	PDZD8 (I789M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253725	NM_173791.5(PDZD8):c.2357A>G (p.Tyr786Cys)	PDZD8 (Y786C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310406	NM_173791.5(PDZD8):c.2315G>A (p.Arg772His)	PDZD8 (R772H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305665	NM_173791.5(PDZD8):c.2278C>T (p.Pro760Ser)	PDZD8 (P760S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390908	NM_173791.5(PDZD8):c.2275G>C (p.Ala759Pro)	PDZD8 (A759P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211191	NM_173791.5(PDZD8):c.2246C>T (p.Thr749Met)	PDZD8 (T749M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2520695	NM_173791.5(PDZD8):c.2206C>T (p.Leu736Phe)	PDZD8 (L736F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703715	NM_173791.5(PDZD8):c.2197_2200del (p.Val732_Ser733insTer)	PDZD8	Deletion (nonsense)	Intellectual developmental disorder with autism and dysmorphic facies	GPathogenic
Select item 3211190	NM_173791.5(PDZD8):c.2197A>C (p.Ser733Arg)	PDZD8 (S733R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623806	NM_173791.5(PDZD8):c.2110A>G (p.Ile704Val)	PDZD8 (I704V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211189	NM_173791.5(PDZD8):c.2018C>T (p.Ser673Leu)	PDZD8 (S673L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536523	NM_173791.5(PDZD8):c.2011G>T (p.Asp671Tyr)	PDZD8 (D671Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483898	NM_173791.5(PDZD8):c.1934C>T (p.Ala645Val)	PDZD8 (A645V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278717	NM_173791.5(PDZD8):c.1882G>T (p.Val628Leu)	PDZD8 (V628L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313121	NM_173791.5(PDZD8):c.1768C>T (p.Pro590Ser)	PDZD8 (P590S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377355	NM_173791.5(PDZD8):c.1741C>T (p.Pro581Ser)	PDZD8 (P581S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250888	NM_173791.5(PDZD8):c.1658C>T (p.Pro553Leu)	PDZD8 (P553L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211188	NM_173791.5(PDZD8):c.1597C>A (p.Pro533Thr)	PDZD8 (P533T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211187	NM_173791.5(PDZD8):c.1591A>G (p.Ile531Val)	PDZD8 (I531V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3305662	NM_173791.5(PDZD8):c.1558C>T (p.His520Tyr)	PDZD8 (H520Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3254838	NM_173791.5(PDZD8):c.1526A>G (p.Asn509Ser)	PDZD8 (N509S)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and dysmorphic facies	GUncertain significance
Select item 2213585	NM_173791.5(PDZD8):c.1451G>A (p.Gly484Glu)	PDZD8 (G484E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211186	NM_173791.5(PDZD8):c.1450G>A (p.Gly484Arg)	PDZD8 (G484R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640872	NM_173791.5(PDZD8):c.1444G>A (p.Ala482Thr)	PDZD8 (A482T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2333119	NM_173791.5(PDZD8):c.1376A>G (p.Gln459Arg)	PDZD8 (Q459R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063701	NM_173791.5(PDZD8):c.1362A>G (p.Gln454=)	PDZD8	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2640873	NM_173791.5(PDZD8):c.1251C>T (p.Ile417=)	PDZD8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2523452	NM_173791.5(PDZD8):c.1243C>G (p.Arg415Gly)	PDZD8 (R415G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211185	NM_173791.5(PDZD8):c.1226A>T (p.Asp409Val)	PDZD8 (D409V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211184	NM_173791.5(PDZD8):c.1169A>G (p.Tyr390Cys)	PDZD8 (Y390C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211183	NM_173791.5(PDZD8):c.1097C>T (p.Thr366Met)	PDZD8 (T366M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381946	NM_173791.5(PDZD8):c.1090A>C (p.Ile364Leu)	PDZD8 (I364L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256882	NM_173791.5(PDZD8):c.1067G>C (p.Trp356Ser)	PDZD8 (W356S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294165	NM_173791.5(PDZD8):c.950C>T (p.Ala317Val)	PDZD8 (A317V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327515	NM_173791.5(PDZD8):c.899C>T (p.Thr300Ile)	PDZD8 (T300I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703716	NM_173791.5(PDZD8):c.894C>G (p.Tyr298Ter)	PDZD8 (Y298*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with autism and dysmorphic facies	GPathogenic
Select item 2482676	NM_173791.5(PDZD8):c.797A>G (p.Gln266Arg)	PDZD8 (Q266R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523086	NM_173791.5(PDZD8):c.767G>T (p.Arg256Leu)	PDZD8 (R256L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211199	NM_173791.5(PDZD8):c.726C>A (p.Phe242Leu)	PDZD8 (F242L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211198	NM_173791.5(PDZD8):c.715A>T (p.Thr239Ser)	PDZD8 (T239S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305667	NM_173791.5(PDZD8):c.704G>A (p.Arg235His)	PDZD8 (R235H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326786	NM_173791.5(PDZD8):c.538G>A (p.Glu180Lys)	PDZD8 (E180K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211197	NM_173791.5(PDZD8):c.530C>T (p.Pro177Leu)	PDZD8 (P177L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246218	NM_173791.5(PDZD8):c.526G>A (p.Gly176Ser)	PDZD8 (G176S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375529	NM_173791.5(PDZD8):c.409G>A (p.Gly137Arg)	PDZD8 (G137R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552905	NM_173791.5(PDZD8):c.381C>G (p.Phe127Leu)	PDZD8 (F127L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211196	NM_173791.5(PDZD8):c.349C>T (p.Arg117Cys)	PDZD8 (R117C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776546	NM_173791.5(PDZD8):c.306C>T (p.Ile102=)	PDZD8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3211192	NM_173791.5(PDZD8):c.296A>G (p.Asn99Ser)	LOC130004812, PDZD8 (N99S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640874	NM_173791.5(PDZD8):c.259C>G (p.Pro87Ala)	LOC130004812, PDZD8 (P87A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3233588	NM_173791.5(PDZD8):c.249C>G (p.Ala83=)	LOC130004812, PDZD8	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2358881	NM_173791.5(PDZD8):c.241A>C (p.Thr81Pro)	LOC130004812, PDZD8 (T81P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343040	NM_173791.5(PDZD8):c.218C>T (p.Ala73Val)	LOC130004812, PDZD8 (A73V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493787	NM_173791.5(PDZD8):c.119G>C (p.Arg40Pro)	LOC130004812, PDZD8 (R40P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305664	NM_173791.5(PDZD8):c.100C>T (p.Pro34Ser)	PDZD8 (P34S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211200	NM_173791.5(PDZD8):c.92C>G (p.Pro31Arg)	PDZD8 (P31R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594420	NM_173791.5(PDZD8):c.66G>T (p.Gln22His)	PDZD8 (Q22H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301526	NM_173791.5(PDZD8):c.66G>C (p.Gln22His)	PDZD8 (Q22H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244903	NC_000010.10:g.(?_117823909)_(119750414_?)dup	CCDC172, EMX2 +14 more	Duplication	Microphthalmia, syndromic 11	GUncertain significance
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 3063162	GRCh37/hg19 10q25.1-26.13(chr10:107129993-123817654)x3	ABLIM1, ACSL5 +70 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684621	GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3	ABLIM1, ABRAXAS2 +117 more	Copy number gain	not provided	GPathogenic
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 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	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 1527606	GRCh37/hg19 10q25.3-26.13(chr10:117019650-125217066)	ACADSB, ARMS2 +54 more	Copy number loss	not specified	GPathogenic
Select item 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic
Select item 1330213	GRCh37/hg19 10q25.3-26.12(chr10:118891670-122349064)x1	CACUL1, PLPP4 +22 more	Copy number loss	Astigmatism +4 more	GUncertain significance
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 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 625556	GRCh37/hg19 10q25.3-26.13(chr10:117024753-124942806)	ACADSB, ARMS2 +54 more	Copy number loss	Distal 10q deletion syndrome	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 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 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic

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