ClinVar for Gene (Select 23288) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 186

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3110436	NM_152558.5(IQCE):c.896G>A (p.Arg299Gln)	IQCE (R283Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110435	NM_152558.5(IQCE):c.432A>C (p.Glu144Asp)	IQCE (E128D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110434	NM_152558.5(IQCE):c.404C>A (p.Pro135His)	IQCE (P70H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110433	NM_152558.5(IQCE):c.388A>G (p.Ser130Gly)	IQCE, LOC126859928 (S130G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110432	NM_152558.5(IQCE):c.272A>T (p.Gln91Leu)	IQCE, LOC126859928 (Q26L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110431	NM_152558.5(IQCE):c.2029G>A (p.Asp677Asn)	IQCE (D677N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110430	NM_152558.5(IQCE):c.2020G>A (p.Val674Ile)	IQCE (V658I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110429	NM_152558.5(IQCE):c.2014G>C (p.Asp672His)	IQCE (D672H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110428	NM_152558.5(IQCE):c.1972C>T (p.Pro658Ser)	IQCE (P658S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3110427	NM_152558.5(IQCE):c.1895C>A (p.Ala632Asp)	IQCE (A567D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110426	NM_152558.5(IQCE):c.1832C>T (p.Ala611Val)	IQCE (A595V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3110425	NM_152558.5(IQCE):c.1819A>G (p.Ile607Val)	IQCE (I542V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3110424	NM_152558.5(IQCE):c.1778C>T (p.Ala593Val)	IQCE (A593V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3110423	NM_152558.5(IQCE):c.1759C>T (p.Arg587Cys)	IQCE (R522C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110422	NM_152558.5(IQCE):c.1741C>G (p.Gln581Glu)	IQCE (Q516E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110421	NM_152558.5(IQCE):c.1676G>A (p.Arg559Gln)	IQCE (R543Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110419	NM_152558.5(IQCE):c.1604A>C (p.His535Pro)	IQCE (H470P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110418	NM_152558.5(IQCE):c.1354G>C (p.Glu452Gln)	IQCE (E387Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110417	NM_152558.5(IQCE):c.1210C>T (p.Arg404Trp)	IQCE (R339W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110416	NM_152558.5(IQCE):c.1187C>T (p.Ala396Val)	IQCE (A331V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110415	NM_152558.5(IQCE):c.1171G>A (p.Glu391Lys)	IQCE (E326K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065859	NM_152558.5(IQCE):c.1616dup (p.Ala540fs)	IQCE (A475fs +2 more)	Duplication (frameshift variant)	Polydactyly, postaxial, type a7	GLikely pathogenic
Select item 3062980	GRCh37/hg19 7p22.3-22.2(chr7:2163435-2987198)x3	AMZ1, BRAT1 +11 more	Copy number gain	not specified	GUncertain significance
Select item 3062963	GRCh37/hg19 7p22.3-22.2(chr7:2088540-3127784)x3	AMZ1, BRAT1 +11 more	Copy number gain	not specified	GUncertain significance
Select item 3059534	NM_152558.5(IQCE):c.1969+146G>A	IQCE	Single nucleotide variant (3 prime UTR variant +1 more)	IQCE-related condition	GBenign
Select item 3057490	NM_152558.5(IQCE):c.-2C>T	IQCE, LOC129997827	Single nucleotide variant (5 prime UTR variant)	IQCE-related condition	GLikely benign
Select item 3056377	NM_152558.5(IQCE):c.1233G>A (p.Leu411=)	IQCE	Single nucleotide variant (synonymous variant)	IQCE-related condition	GBenign
Select item 3048135	NM_152558.5(IQCE):c.624C>T (p.Ala208=)	IQCE	Single nucleotide variant (synonymous variant)	IQCE-related condition	GLikely benign
Select item 3044958	NM_152558.5(IQCE):c.1641G>T (p.Val547=)	IQCE	Single nucleotide variant (synonymous variant)	IQCE-related condition	GLikely benign
Select item 3044277	NM_152558.5(IQCE):c.702C>G (p.Ser234Arg)	IQCE (S169R +2 more)	Single nucleotide variant (missense variant)	IQCE-related condition	GLikely benign
Select item 3040127	NM_152558.5(IQCE):c.690C>T (p.Asp230=)	IQCE	Single nucleotide variant (synonymous variant)	IQCE-related condition	GLikely benign
Select item 3039032	NM_152558.5(IQCE):c.1148G>T (p.Arg383Leu)	IQCE (R318L +2 more)	Single nucleotide variant (missense variant)	IQCE-related condition	GBenign
Select item 3037606	NM_152558.5(IQCE):c.2057C>T (p.Pro686Leu)	IQCE (P621L +2 more)	Single nucleotide variant (missense variant)	IQCE-related condition	GBenign
Select item 3037466	NM_152558.5(IQCE):c.1022G>A (p.Arg341Lys)	IQCE (R276K +2 more)	Single nucleotide variant (missense variant)	IQCE-related condition	GBenign
Select item 3037323	NM_152558.5(IQCE):c.1179C>G (p.Leu393=)	IQCE	Single nucleotide variant (synonymous variant)	IQCE-related condition	GLikely benign
Select item 3035295	NM_152558.5(IQCE):c.1635G>A (p.Ala545=)	IQCE	Single nucleotide variant (synonymous variant)	IQCE-related condition	GLikely benign
Select item 3034330	NM_152558.5(IQCE):c.1425G>A (p.Pro475=)	IQCE	Single nucleotide variant (synonymous variant)	IQCE-related condition	GLikely benign
Select item 3029029	NM_152558.5(IQCE):c.865A>T (p.Lys289Ter)	IQCE (K224* +2 more)	Single nucleotide variant (nonsense)	IQCE-related condition	GUncertain significance
Select item 2685230	GRCh37/hg19 7p22.3(chr7:2469259-2610093)x1	BRAT1, CHST12 +2 more	Copy number loss	not provided	GUncertain significance
Select item 2684477	GRCh37/hg19 7p22.3-22.2(chr7:2409035-2850679)x3	AMZ1, BRAT1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2684476	GRCh37/hg19 7p22.3-22.2(chr7:2380155-2885274)x3	AMZ1, BRAT1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2684473	GRCh37/hg19 7p22.3(chr7:2163436-2610093)x3	BRAT1, CHST12 +7 more	Copy number gain	not provided	GUncertain significance
Select item 2684470	GRCh37/hg19 7p22.3-22.1(chr7:43361-5965440)x3	RNF216, SDK1 +48 more	Copy number gain	not provided	GPathogenic
Select item 2684469	GRCh37/hg19 7p22.3-21.3(chr7:43361-8890475)x3	PSMG3, RAC1 +73 more	Copy number gain	not provided	GPathogenic
Select item 2673139	GRCh37/hg19 7p22.3(chr7:2472275-2629740)x1	BRAT1, CHST12 +2 more	Copy number loss	not provided	GUncertain significance
Select item 2673097	NM_152558.5(IQCE):c.849C>T (p.Gly283=)	IQCE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657235	NM_152558.5(IQCE):c.1198C>T (p.Leu400=)	IQCE	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2657234	NM_152558.5(IQCE):c.249C>T (p.Thr83=)	IQCE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621297	NM_152558.5(IQCE):c.1697A>G (p.Lys566Arg)	IQCE (K550R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604618	NM_152558.5(IQCE):c.1065C>G (p.Ser355Arg)	IQCE (S355R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594669	NM_152558.5(IQCE):c.574A>G (p.Ser192Gly)	IQCE (S127G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588443	NM_152558.5(IQCE):c.1025G>T (p.Arg342Leu)	IQCE (R326L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569687	NM_152558.5(IQCE):c.1723G>A (p.Val575Met)	IQCE (V559M +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2548108	NM_152558.5(IQCE):c.921G>C (p.Glu307Asp)	IQCE (E291D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524225	NM_152558.5(IQCE):c.1435C>T (p.His479Tyr)	IQCE (H463Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519289	NM_152558.5(IQCE):c.926A>T (p.Gln309Leu)	IQCE (Q309L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513193	NM_152558.5(IQCE):c.1505C>G (p.Ser502Cys)	IQCE (S437C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510126	NM_152558.5(IQCE):c.1532G>A (p.Arg511His)	IQCE (R446H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506557	GRCh37/hg19 7p22.3(chr7:2606751-2641098)	IQCE	Copy number loss	Polydactyly, postaxial, type a7	GLikely pathogenic
Select item 2495441	NM_152558.5(IQCE):c.1999G>A (p.Ala667Thr)	IQCE (A667T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486655	NM_152558.5(IQCE):c.1024C>T (p.Arg342Cys)	IQCE (R342C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485024	NM_152558.5(IQCE):c.724A>G (p.Thr242Ala)	IQCE (T177A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477684	NM_152558.5(IQCE):c.518G>T (p.Arg173Leu)	IQCE (R157L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468557	NM_152558.5(IQCE):c.1156C>T (p.Arg386Cys)	IQCE (R321C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460760	NM_152558.5(IQCE):c.316G>A (p.Val106Ile)	IQCE, LOC126859928 (V106I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427036	NC_000007.13:g.(?_2577703)_(2972240_?)dup	AMZ1, BRAT1 +4 more	Duplication	BENTA disease +1 more	GUncertain significance
Select item 2406915	NM_152558.5(IQCE):c.64T>C (p.Phe22Leu)	IQCE (F22L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406889	NM_152558.5(IQCE):c.506C>T (p.Thr169Met)	IQCE (T104M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398512	NM_152558.5(IQCE):c.1479C>G (p.His493Gln)	IQCE (H428Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391191	NM_152558.5(IQCE):c.1888A>G (p.Thr630Ala)	IQCE (T614A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389571	NM_152558.5(IQCE):c.578G>A (p.Arg193His)	IQCE (R128H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383407	NM_152558.5(IQCE):c.1978C>T (p.Pro660Ser)	IQCE (P660S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378076	NM_152558.5(IQCE):c.322G>A (p.Gly108Ser)	IQCE, LOC126859928 (G108S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2359176	NM_152558.5(IQCE):c.1562C>T (p.Ala521Val)	IQCE (A456V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358592	NM_152558.5(IQCE):c.125C>T (p.Ser42Leu)	IQCE (S26L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349988	NM_152558.5(IQCE):c.356G>A (p.Arg119Lys)	IQCE, LOC126859928 (R54K +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2328119	NM_152558.5(IQCE):c.914C>T (p.Thr305Met)	IQCE (T240M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325088	NM_152558.5(IQCE):c.938A>G (p.Glu313Gly)	IQCE (E297G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322049	NM_152558.5(IQCE):c.1384G>A (p.Glu462Lys)	IQCE (E397K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319491	NM_152558.5(IQCE):c.1307G>C (p.Arg436Thr)	IQCE (R371T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310972	NM_152558.5(IQCE):c.1595T>G (p.Val532Gly)	IQCE (V467G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302563	NM_152558.5(IQCE):c.1239G>C (p.Gln413His)	IQCE (Q348H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301524	NM_152558.5(IQCE):c.1013G>A (p.Arg338Gln)	IQCE (R338Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294497	NM_152558.5(IQCE):c.1655C>G (p.Ala552Gly)	IQCE (A487G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293342	NM_152558.5(IQCE):c.325G>A (p.Gly109Ser)	IQCE, LOC126859928 (G93S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2291882	NM_152558.5(IQCE):c.699C>G (p.Ile233Met)	IQCE (I217M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275013	NM_152558.5(IQCE):c.731A>G (p.Asn244Ser)	IQCE (N179S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266189	NM_152558.5(IQCE):c.818G>C (p.Gly273Ala)	IQCE (G273A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259392	NM_152558.5(IQCE):c.1605C>A (p.His535Gln)	IQCE (H470Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258071	NM_152558.5(IQCE):c.1798G>C (p.Val600Leu)	IQCE (V600L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257584	NM_152558.5(IQCE):c.808G>A (p.Glu270Lys)	IQCE (E270K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251061	NM_152558.5(IQCE):c.835G>A (p.Glu279Lys)	IQCE (E263K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248244	NM_152558.5(IQCE):c.1523C>T (p.Pro508Leu)	IQCE (P492L +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2241709	NM_152558.5(IQCE):c.1853G>A (p.Arg618Gln)	IQCE (R553Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711132	GRCh37/hg19 7p22.3-21.3(chr7:43360-9649794)x3	MAD1L1, MAFK +73 more	Copy number gain	See cases	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1708194	GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3	ACTB, ADAP1 +98 more	Copy number gain	See cases	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527332	GRCh37/hg19 7p22.3(chr7:2319788-2700303)	BRAT1, CHST12 +5 more	Copy number gain	not specified	GUncertain significance
Select item 1300127	NM_152558.5(IQCE):c.1970-5T>C	IQCE	Single nucleotide variant (intron variant)	Polydactyly, postaxial, type a7 +1 more	GBenign

<< First< Prev

Page of 2