ClinVar for Gene (Select 23288) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3529713	NM_152558.5(IQCE):c.802A>G (p.Ser268Gly)	IQCE (S268G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3529712	NM_152558.5(IQCE):c.2080C>G (p.Pro694Ala)	IQCE (P678A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3529711	NM_152558.5(IQCE):c.893C>T (p.Ser298Phe)	IQCE (S282F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3529710	NM_152558.5(IQCE):c.472C>T (p.His158Tyr)	IQCE (H158Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3529709	NM_152558.5(IQCE):c.1429G>A (p.Val477Ile)	IQCE (V412I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3529708	NM_152558.5(IQCE):c.1886C>T (p.Thr629Ile)	IQCE (T629I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3529707	NM_152558.5(IQCE):c.1135C>T (p.His379Tyr)	IQCE (H363Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3529706	NM_152558.5(IQCE):c.520C>G (p.Leu174Val)	IQCE (L174V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3529703	NM_152558.5(IQCE):c.1960G>A (p.Ala654Thr)	IQCE (A589T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3529702	NM_152558.5(IQCE):c.205G>A (p.Gly69Ser)	IQCE (G4S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3529701	NM_152558.5(IQCE):c.146C>T (p.Ser49Phe)	IQCE (S33F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3529700	NM_152558.5(IQCE):c.152C>T (p.Pro51Leu)	IQCE (P51L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3529699	NM_152558.5(IQCE):c.1570A>G (p.Arg524Gly)	IQCE (R508G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3529698	NM_152558.5(IQCE):c.1496C>G (p.Pro499Arg)	IQCE (P434R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3529697	NM_152558.5(IQCE):c.1099C>T (p.His367Tyr)	IQCE (H302Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3529696	NM_152558.5(IQCE):c.715G>A (p.Asp239Asn)	IQCE (D239N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3529694	NM_152558.5(IQCE):c.1852C>T (p.Arg618Trp)	IQCE (R618W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3377151	NM_152558.5(IQCE):c.1493G>A (p.Trp498Ter)	IQCE (W433* +2 more)	Single nucleotide variant (nonsense)	Polydactyly, postaxial, type a7	GPathogenic
Select item 3377144	NM_152558.5(IQCE):c.1540del (p.Cys514fs)	IQCE (C449fs +2 more)	Deletion (frameshift variant)	Polydactyly, postaxial, type a7	GPathogenic
Select item 3368250	NM_152558.5(IQCE):c.1613A>G (p.Lys538Arg)	IQCE (K473R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359828	NM_152558.5(IQCE):c.900_909del (p.Val301fs)	IQCE (V236fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3352690	NM_152558.5(IQCE):c.1609-6_1609-5dup	IQCE	Duplication (intron variant)	IQCE-related disorder	GLikely benign
Select item 3350769	NM_152558.5(IQCE):c.1180C>T (p.Arg394Ter)	IQCE (R329* +2 more)	Single nucleotide variant (nonsense)	IQCE-related disorder	GLikely pathogenic
Select item 3342736	NM_152558.5(IQCE):c.825-8T>G	IQCE	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3342735	NM_152558.5(IQCE):c.2042del (p.Asp681fs)	IQCE (D616fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3286356	NM_152558.5(IQCE):c.821A>G (p.Lys274Arg)	IQCE (K209R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286355	NM_152558.5(IQCE):c.640G>C (p.Gly214Arg)	IQCE (G214R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286353	NM_152558.5(IQCE):c.227C>T (p.Pro76Leu)	IQCE (P60L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286352	NM_152558.5(IQCE):c.336C>G (p.Asp112Glu)	IQCE, LOC126859928 (D96E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286351	NM_152558.5(IQCE):c.380G>A (p.Arg127His)	IQCE, LOC126859928 (R111H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286350	NM_152558.5(IQCE):c.745C>T (p.Arg249Trp)	IQCE (R184W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286349	NM_152558.5(IQCE):c.365G>A (p.Arg122Lys)	IQCE, LOC126859928 (R122K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286348	NM_152558.5(IQCE):c.1144C>A (p.Pro382Thr)	IQCE (P317T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245808	NC_000007.13:g.(?_2559496)_(2998140_?)del	AMZ1, BRAT1 +5 more	Deletion	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GPathogenic
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 disorder	GBenign
Select item 3057490	NM_152558.5(IQCE):c.-2C>T	IQCE, LOC129997827	Single nucleotide variant (5 prime UTR variant)	IQCE-related disorder	GLikely benign
Select item 3056377	NM_152558.5(IQCE):c.1233G>A (p.Leu411=)	IQCE	Single nucleotide variant (synonymous variant)	IQCE-related disorder	GBenign
Select item 3048135	NM_152558.5(IQCE):c.624C>T (p.Ala208=)	IQCE	Single nucleotide variant (synonymous variant)	IQCE-related disorder	GLikely benign
Select item 3044958	NM_152558.5(IQCE):c.1641G>T (p.Val547=)	IQCE	Single nucleotide variant (synonymous variant)	IQCE-related disorder	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 disorder	GLikely benign
Select item 3040127	NM_152558.5(IQCE):c.690C>T (p.Asp230=)	IQCE	Single nucleotide variant (synonymous variant)	IQCE-related disorder	GLikely benign
Select item 3039032	NM_152558.5(IQCE):c.1148G>T (p.Arg383Leu)	IQCE (R318L +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3037606	NM_152558.5(IQCE):c.2057C>T (p.Pro686Leu)	IQCE (P621L +2 more)	Single nucleotide variant (missense variant)	IQCE-related disorder	GBenign
Select item 3037466	NM_152558.5(IQCE):c.1022G>A (p.Arg341Lys)	IQCE (R276K +2 more)	Single nucleotide variant (missense variant)	IQCE-related disorder	GBenign
Select item 3037323	NM_152558.5(IQCE):c.1179C>G (p.Leu393=)	IQCE	Single nucleotide variant (synonymous variant)	IQCE-related disorder	GLikely benign
Select item 3035295	NM_152558.5(IQCE):c.1635G>A (p.Ala545=)	IQCE	Single nucleotide variant (synonymous variant)	IQCE-related disorder	GLikely benign
Select item 3034330	NM_152558.5(IQCE):c.1425G>A (p.Pro475=)	IQCE	Single nucleotide variant (synonymous variant)	IQCE-related disorder	GLikely benign
Select item 3029029	NM_152558.5(IQCE):c.865A>T (p.Lys289Ter)	IQCE (K224* +2 more)	Single nucleotide variant (nonsense)	IQCE-related disorder	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	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	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GUncertain significance

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