INTS5[gene] - ClinVar

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Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149385	GRCh38/hg38 11q12.3(chr11:62249520-62946093)x3	AHNAK, ASRGL1 +110 more	Copy number gain	See cases	GPathogenic
Select item 59754	GRCh38/hg38 11q12.3(chr11:62433886-63096003)x3	AHNAK, B3GAT3 +105 more	Copy number gain	See cases	GPathogenic
Select item 59755	GRCh38/hg38 11q12.3(chr11:62452571-62862781)x3	AHNAK, B3GAT3 +95 more	Copy number gain	See cases	GPathogenic
Select item 145432	GRCh38/hg38 11q12.3(chr11:62562836-62840570)x3	B3GAT3, BSCL2 +70 more	Copy number gain	See cases	GUncertain significance
Select item 2456810	NM_030628.2(INTS5):c.3018C>G (p.Phe1006Leu)	INTS5 (F1006L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288444	NM_030628.2(INTS5):c.2984A>G (p.Asn995Ser)	INTS5 (N995S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641883	NM_030628.2(INTS5):c.2973C>T (p.Val991=)	INTS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2268308	NM_030628.2(INTS5):c.2956G>T (p.Ala986Ser)	INTS5 (A986S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286243	NM_030628.2(INTS5):c.2930G>A (p.Gly977Asp)	INTS5 (G977D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286587	NM_030628.2(INTS5):c.2882T>C (p.Ile961Thr)	INTS5 (I961T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273570	NM_030628.2(INTS5):c.2851C>T (p.Arg951Trp)	INTS5 (R951W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372600	NM_030628.2(INTS5):c.2842G>A (p.Gly948Ser)	INTS5 (G948S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319821	NM_030628.2(INTS5):c.2719T>A (p.Ser907Thr)	INTS5 (S907T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641884	NM_030628.2(INTS5):c.2710C>T (p.Leu904=)	INTS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3286247	NM_030628.2(INTS5):c.2695C>T (p.His899Tyr)	INTS5 (H899Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110207	NM_030628.2(INTS5):c.2647G>A (p.Ala883Thr)	INTS5 (A883T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110206	NM_030628.2(INTS5):c.2635C>T (p.Arg879Trp)	INTS5 (R879W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465179	NM_030628.2(INTS5):c.2626G>T (p.Val876Leu)	INTS5 (V876L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110205	NM_030628.2(INTS5):c.2596G>C (p.Ala866Pro)	INTS5 (A866P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641885	NM_030628.2(INTS5):c.2556C>T (p.Arg852=)	INTS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3110204	NM_030628.2(INTS5):c.2509G>A (p.Ala837Thr)	INTS5 (A837T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249357	NM_030628.2(INTS5):c.2498C>G (p.Pro833Arg)	INTS5 (P833R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110203	NM_030628.2(INTS5):c.2494C>T (p.Pro832Ser)	INTS5 (P832S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110202	NM_030628.2(INTS5):c.2384G>A (p.Cys795Tyr)	INTS5 (C795Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210689	NM_030628.2(INTS5):c.2378C>G (p.Thr793Ser)	INTS5 (T793S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279556	NM_030628.2(INTS5):c.2272T>G (p.Leu758Val)	INTS5 (L758V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383459	NM_030628.2(INTS5):c.2267G>A (p.Arg756His)	INTS5 (R756H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272897	NM_030628.2(INTS5):c.2266C>T (p.Arg756Cys)	INTS5 (R756C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548616	NM_030628.2(INTS5):c.2218C>T (p.Pro740Ser)	INTS5 (P740S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550934	NM_030628.2(INTS5):c.2192C>G (p.Thr731Ser)	INTS5 (T731S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545301	NM_030628.2(INTS5):c.2161G>T (p.Ala721Ser)	INTS5 (A721S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110200	NM_030628.2(INTS5):c.2054T>C (p.Leu685Pro)	INTS5 (L685P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334935	NM_030628.2(INTS5):c.2045C>T (p.Pro682Leu)	INTS5 (P682L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558068	NM_030628.2(INTS5):c.2027G>A (p.Arg676His)	INTS5 (R676H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277530	NM_030628.2(INTS5):c.1990C>T (p.Pro664Ser)	INTS5 (P664S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110198	NM_030628.2(INTS5):c.1919C>G (p.Ser640Cys)	INTS5 (S640C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281775	NM_030628.2(INTS5):c.1744G>T (p.Val582Leu)	INTS5 (V582L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492851	NM_030628.2(INTS5):c.1712C>T (p.Thr571Met)	INTS5 (T571M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286242	NM_030628.2(INTS5):c.1697T>C (p.Leu566Ser)	INTS5 (L566S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460690	NM_030628.2(INTS5):c.1678C>T (p.Arg560Trp)	INTS5 (R560W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255962	NM_030628.2(INTS5):c.1664G>A (p.Arg555Gln)	INTS5 (R555Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110197	NM_030628.2(INTS5):c.1574G>A (p.Arg525Gln)	INTS5 (R525Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611022	NM_030628.2(INTS5):c.1562A>G (p.His521Arg)	INTS5 (H521R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110196	NM_030628.2(INTS5):c.1531C>T (p.Arg511Trp)	INTS5 (R511W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216379	NM_030628.2(INTS5):c.1526A>T (p.Tyr509Phe)	INTS5 (Y509F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524273	NM_030628.2(INTS5):c.1483C>T (p.Arg495Cys)	INTS5 (R495C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110195	NM_030628.2(INTS5):c.1427C>T (p.Ala476Val)	INTS5 (A476V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364071	NM_030628.2(INTS5):c.1406G>A (p.Arg469His)	INTS5 (R469H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641886	NM_030628.2(INTS5):c.1390C>T (p.Pro464Ser)	INTS5 (P464S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2286381	NM_030628.2(INTS5):c.1267C>G (p.Gln423Glu)	INTS5 (Q423E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611279	NM_030628.2(INTS5):c.1237A>T (p.Thr413Ser)	INTS5 (T413S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286244	NM_030628.2(INTS5):c.1213C>T (p.Arg405Cys)	INTS5 (R405C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110194	NM_030628.2(INTS5):c.1150C>A (p.Leu384Met)	INTS5 (L384M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641887	NM_030628.2(INTS5):c.1011G>T (p.Thr337=)	INTS5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2543331	NM_030628.2(INTS5):c.1010C>T (p.Thr337Met)	INTS5 (T337M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471814	NM_030628.2(INTS5):c.994C>A (p.Pro332Thr)	INTS5 (P332T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617176	NM_030628.2(INTS5):c.956A>T (p.Asp319Val)	INTS5 (D319V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589592	NM_030628.2(INTS5):c.944G>A (p.Arg315Gln)	INTS5 (R315Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110213	NM_030628.2(INTS5):c.929G>A (p.Arg310Gln)	INTS5 (R310Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528261	NM_030628.2(INTS5):c.853G>C (p.Glu285Gln)	INTS5 (E285Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110212	NM_030628.2(INTS5):c.823C>A (p.Pro275Thr)	INTS5 (P275T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286246	NM_030628.2(INTS5):c.809C>G (p.Thr270Ser)	INTS5 (T270S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282175	NM_030628.2(INTS5):c.725T>G (p.Val242Gly)	INTS5 (V242G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641888	NM_030628.2(INTS5):c.693C>T (p.Gly231=)	INTS5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 779941	NM_030628.2(INTS5):c.507T>A (p.Ala169=)	INTS5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3286245	NM_030628.2(INTS5):c.500C>T (p.Pro167Leu)	INTS5 (P167L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224179	NM_030628.2(INTS5):c.473C>T (p.Thr158Met)	INTS5 (T158M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278688	NM_030628.2(INTS5):c.337G>C (p.Ala113Pro)	INTS5 (A113P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110208	NM_030628.2(INTS5):c.302C>T (p.Pro101Leu)	INTS5 (P101L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570431	NM_030628.2(INTS5):c.157C>T (p.Arg53Trp)	INTS5 (R53W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110210	NM_030628.2(INTS5):c.53C>T (p.Pro18Leu)	INTS5 (P18L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110209	NM_030628.2(INTS5):c.49G>T (p.Ala17Ser)	INTS5 (A17S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402488	NM_030628.2(INTS5):c.22C>T (p.Pro8Ser)	INTS5 (P8S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244796	NC_000011.9:g.(?_62414014)_(62439586_?)dup	CSKMT, GANAB +3 more	Duplication	not provided	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1411712	NC_000011.9:g.(?_62380754)_(62472984_?)dup	B3GAT3, BSCL2 +8 more	Duplication	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815435	GRCh37/hg19 11q12.2-12.3(chr11:60385382-62456278)x3	CD5, CD6 +58 more	Copy number gain	not provided	GUncertain significance
Select item 810838	NC_000011.10:g.62628412_62655064del	GANAB, INTS5	Deletion	Polycystic kidney disease 3 with or without polycystic liver disease	GPathogenic
Select item 689150	GRCh37/hg19 11q12.3(chr11:62314663-62788240)x3	B3GAT3, BSCL2 +36 more	Copy number gain	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 394819	GRCh37/hg19 11q12.3(chr11:61840997-62987330)x1	AHNAK, ASRGL1 +47 more	Copy number loss	See cases	GLikely pathogenic

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Items: 87