DISP2[gene] - ClinVar

Search results

Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2365664	NM_033510.3(DISP2):c.7G>A (p.Gly3Ser)	DISP2, LOC130056841 (G3S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592059	NM_033510.3(DISP2):c.43G>A (p.Ala15Thr)	DISP2, LOC130056841 (A15T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310089	NM_033510.3(DISP2):c.112C>G (p.Pro38Ala)	DISP2 (P38A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270777	NM_033510.3(DISP2):c.113C>G (p.Pro38Arg)	DISP2 (P38R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381131	NM_033510.3(DISP2):c.274C>T (p.His92Tyr)	DISP2 (H92Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2412379	NM_033510.3(DISP2):c.289C>T (p.Arg97Trp)	DISP2 (R97W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457730	NM_033510.3(DISP2):c.299A>C (p.Gln100Pro)	DISP2 (Q100P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489085	NM_033510.3(DISP2):c.308A>C (p.Gln103Pro)	DISP2 (Q103P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2330835	NM_033510.3(DISP2):c.480C>A (p.Ser160Arg)	DISP2 (S160R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 720007	NM_033510.3(DISP2):c.582C>T (p.Pro194=)	DISP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2306477	NM_033510.3(DISP2):c.592A>G (p.Lys198Glu)	DISP2 (K198E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2645168	NM_033510.3(DISP2):c.627C>T (p.Asp209=)	DISP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645169	NM_033510.3(DISP2):c.646G>A (p.Val216Ile)	DISP2 (V216I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2267648	NM_033510.3(DISP2):c.755G>A (p.Arg252Lys)	DISP2 (R252K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606926	NM_033510.3(DISP2):c.775G>A (p.Ala259Thr)	DISP2 (A259T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249110	NM_033510.3(DISP2):c.782G>A (p.Arg261Gln)	DISP2 (R261Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380671	NM_033510.3(DISP2):c.787C>T (p.Arg263Trp)	DISP2 (R263W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254064	NM_033510.3(DISP2):c.869T>C (p.Val290Ala)	DISP2 (V290A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333227	NM_033510.3(DISP2):c.903C>A (p.Asn301Lys)	DISP2 (N301K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218440	NM_033510.3(DISP2):c.931A>G (p.Met311Val)	DISP2 (M311V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335689	NM_033510.3(DISP2):c.988G>A (p.Ala330Thr)	DISP2 (A330T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405134	NM_033510.3(DISP2):c.1097C>T (p.Ala366Val)	DISP2 (A366V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310964	NM_033510.3(DISP2):c.1114G>A (p.Ala372Thr)	DISP2 (A372T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280483	NM_033510.3(DISP2):c.1199C>T (p.Thr400Ile)	DISP2 (T400I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403614	NM_033510.3(DISP2):c.1334G>A (p.Gly445Asp)	DISP2 (G445D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531185	NM_033510.3(DISP2):c.1366C>A (p.Leu456Met)	DISP2 (L456M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2645170	NM_033510.3(DISP2):c.1370C>T (p.Ala457Val)	DISP2 (A457V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2541007	NM_033510.3(DISP2):c.1416G>T (p.Met472Ile)	DISP2 (M472I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473427	NM_033510.3(DISP2):c.1430A>G (p.Lys477Arg)	DISP2 (K477R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295689	NM_033510.3(DISP2):c.1631A>G (p.Asn544Ser)	DISP2 (N544S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302130	NM_033510.3(DISP2):c.1721C>T (p.Pro574Leu)	DISP2 (P574L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461439	NM_033510.3(DISP2):c.1727G>C (p.Gly576Ala)	DISP2 (G576A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597431	NM_033510.3(DISP2):c.1855G>A (p.Ala619Thr)	DISP2 (A619T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399571	NM_033510.3(DISP2):c.1871C>T (p.Thr624Met)	DISP2 (T624M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305383	NM_033510.3(DISP2):c.1930C>A (p.His644Asn)	DISP2 (H644N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363817	NM_033510.3(DISP2):c.1969C>T (p.Arg657Trp)	DISP2 (R657W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486497	NM_033510.3(DISP2):c.1990G>C (p.Ala664Pro)	DISP2 (A664P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316732	NM_033510.3(DISP2):c.2192C>T (p.Thr731Met)	DISP2, LOC130056842 (T731M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592458	NM_033510.3(DISP2):c.2209G>A (p.Gly737Ser)	LOC130056842, DISP2 (G737S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233342	NM_033510.3(DISP2):c.2215G>A (p.Val739Ile)	DISP2, LOC130056842 (V739I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559071	NM_033510.3(DISP2):c.2251G>T (p.Ala751Ser)	DISP2, LOC130056842 (A751S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279294	NM_033510.3(DISP2):c.2255A>C (p.Glu752Ala)	DISP2, LOC130056842 (E752A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279200	NM_033510.3(DISP2):c.2456C>T (p.Ala819Val)	DISP2 (A819V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397132	NM_033510.3(DISP2):c.2458C>G (p.Arg820Gly)	DISP2 (R820G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409750	NM_033510.3(DISP2):c.2494T>A (p.Trp832Arg)	DISP2 (W832R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599523	NM_033510.3(DISP2):c.2511C>G (p.Phe837Leu)	DISP2 (F837L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315406	NM_033510.3(DISP2):c.2540G>C (p.Ser847Thr)	DISP2 (S847T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392433	NM_033510.3(DISP2):c.2578G>A (p.Gly860Ser)	DISP2 (G860S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296166	NM_033510.3(DISP2):c.2680T>G (p.Phe894Val)	DISP2 (F894V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530426	NM_033510.3(DISP2):c.2696G>A (p.Ser899Asn)	DISP2 (S899N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2310341	NM_033510.3(DISP2):c.2753A>T (p.Asn918Ile)	DISP2 (N918I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292179	NM_033510.3(DISP2):c.2950T>C (p.Trp984Arg)	DISP2 (W984R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558124	NM_033510.3(DISP2):c.2952G>C (p.Trp984Cys)	DISP2 (W984C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486267	NM_033510.3(DISP2):c.3053A>G (p.Glu1018Gly)	DISP2 (E1018G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220372	NM_033510.3(DISP2):c.3122A>G (p.His1041Arg)	DISP2 (H1041R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597040	NM_033510.3(DISP2):c.3254A>G (p.Tyr1085Cys)	DISP2 (Y1085C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364329	NM_033510.3(DISP2):c.3410G>C (p.Gly1137Ala)	DISP2 (G1137A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340444	NM_033510.3(DISP2):c.3481G>A (p.Glu1161Lys)	DISP2 (E1161K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364295	NM_033510.3(DISP2):c.3508C>T (p.Arg1170Trp)	DISP2 (R1170W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240654	NM_033510.3(DISP2):c.3509G>A (p.Arg1170Gln)	DISP2 (R1170Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550857	NM_033510.3(DISP2):c.3511C>T (p.Arg1171Cys)	DISP2 (R1171C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357847	NM_033510.3(DISP2):c.3515G>A (p.Arg1172Gln)	DISP2 (R1172Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214432	NM_033510.3(DISP2):c.3611G>A (p.Cys1204Tyr)	DISP2 (C1204Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326923	NM_033510.3(DISP2):c.3616C>T (p.Arg1206Trp)	DISP2 (R1206W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213280	NM_033510.3(DISP2):c.3629C>G (p.Ala1210Gly)	DISP2 (A1210G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336389	NM_033510.3(DISP2):c.3728G>T (p.Ser1243Ile)	DISP2 (S1243I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213281	NM_033510.3(DISP2):c.3764A>G (p.Glu1255Gly)	DISP2 (E1255G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271027	NM_033510.3(DISP2):c.3835C>T (p.Pro1279Ser)	DISP2 (P1279S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532772	NM_033510.3(DISP2):c.3851C>T (p.Ser1284Phe)	DISP2 (S1284F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321256	NM_033510.3(DISP2):c.3859A>G (p.Ser1287Gly)	DISP2 (S1287G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379150	NM_033510.3(DISP2):c.3872G>A (p.Gly1291Glu)	DISP2 (G1291E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532035	NM_033510.3(DISP2):c.3880G>A (p.Val1294Ile)	DISP2 (V1294I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219045	NM_033510.3(DISP2):c.3923G>A (p.Arg1308His)	DISP2 (R1308H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291946	NM_033510.3(DISP2):c.3929C>G (p.Pro1310Arg)	DISP2 (P1310R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613426	NM_033510.3(DISP2):c.4073A>C (p.His1358Pro)	DISP2 (H1358P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373556	NM_033510.3(DISP2):c.4082T>C (p.Leu1361Ser)	DISP2 (L1361S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980032	GRCh37/hg19 15q15.1(chr15:40464942-41196807)x4	DISP2, C15orf62 +23 more	Copy number gain	not provided	GUncertain significance
Select item 585332	GRCh37/hg19 15q14-15.1 chr15:34638237..42057083 complex variant	CCDC32, RTF1 +60 more	Complex	Spindle cell sarcoma	GPathogenic
Select item 564194	GRCh37/hg19 15q14-15.1(chr15:38170429-40775075)x1	THBS1, EIF2AK4 +22 more	Copy number loss	not provided	GPathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	GPR176, GRAMD2A +568 more	Copy number gain	See cases	GPathogenic

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Items: 85