ClinVar for Gene (Select 4756) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3060542	NM_002499.4(NEO1):c.1719A>G (p.Lys573=)	NEO1	Single nucleotide variant (synonymous variant)	NEO1-related condition	GBenign
Select item 3060218	NM_002499.4(NEO1):c.1895-9T>C	NEO1	Single nucleotide variant (intron variant)	NEO1-related condition	GBenign
Select item 3060149	NM_002499.4(NEO1):c.2943C>T (p.Ser981=)	NEO1	Single nucleotide variant (synonymous variant)	NEO1-related condition	GBenign
Select item 3058588	NM_002499.4(NEO1):c.725-6T>G	NEO1	Single nucleotide variant (intron variant)	NEO1-related condition	GLikely benign
Select item 3056371	NM_002499.4(NEO1):c.2676C>T (p.Thr892=)	NEO1	Single nucleotide variant (synonymous variant)	NEO1-related condition	GBenign
Select item 3055618	NM_002499.4(NEO1):c.3948G>A (p.Ser1316=)	NEO1	Single nucleotide variant (synonymous variant)	NEO1-related condition	GLikely benign
Select item 3054970	NM_002499.4(NEO1):c.2887G>A (p.Val963Ile)	NEO1 (V963I +1 more)	Single nucleotide variant (missense variant)	NEO1-related condition	GLikely benign
Select item 3052571	NM_002499.4(NEO1):c.1015+6T>C	NEO1	Single nucleotide variant (intron variant)	NEO1-related condition	GLikely benign
Select item 3049068	NM_002499.4(NEO1):c.4368C>T (p.Asn1456=)	NEO1	Single nucleotide variant (synonymous variant)	NEO1-related condition	GLikely benign
Select item 3048145	NM_002499.4(NEO1):c.879-12_879-8del	NEO1	Deletion (intron variant)	NEO1-related condition	GLikely benign
Select item 3046484	NM_002499.4(NEO1):c.4290A>G (p.Glu1430=)	NEO1	Single nucleotide variant (synonymous variant)	NEO1-related condition	GLikely benign
Select item 3045473	NM_002499.4(NEO1):c.264A>G (p.Lys88=)	NEO1	Single nucleotide variant (synonymous variant)	NEO1-related condition	GLikely benign
Select item 3044791	NM_002499.4(NEO1):c.1291+9G>T	NEO1	Single nucleotide variant (intron variant)	NEO1-related condition	GBenign
Select item 3044362	NM_002499.4(NEO1):c.725-4_725-3del	NEO1	Deletion (intron variant)	NEO1-related condition	GBenign
Select item 3044016	NM_002499.4(NEO1):c.1282C>T (p.Leu428Phe)	NEO1 (L428F)	Single nucleotide variant (missense variant)	NEO1-related condition	GUncertain significance
Select item 3042512	NM_002499.4(NEO1):c.471A>G (p.Gln157=)	NEO1	Single nucleotide variant (synonymous variant)	NEO1-related condition	GBenign
Select item 3041880	NM_002499.4(NEO1):c.2204-14_2204-2dup	NEO1	Duplication (splice acceptor variant)	NEO1-related condition	GBenign
Select item 3039533	NM_002499.4(NEO1):c.542C>T (p.Pro181Leu)	NEO1 (P181L)	Single nucleotide variant (missense variant)	NEO1-related condition	GLikely benign
Select item 3039000	NM_002499.4(NEO1):c.2092+8A>G	NEO1	Single nucleotide variant (intron variant)	NEO1-related condition	GLikely benign
Select item 3038312	NM_002499.4(NEO1):c.879-11_879-8del	NEO1	Deletion (intron variant)	NEO1-related condition	GBenign
Select item 3037952	NM_002499.4(NEO1):c.879-10_879-8del	NEO1	Deletion (intron variant)	NEO1-related condition	GBenign
Select item 3037074	NM_002499.4(NEO1):c.3279T>G (p.His1093Gln)	NEO1 (H1082Q +2 more)	Single nucleotide variant (missense variant)	NEO1-related condition	GLikely benign
Select item 3035212	NM_002499.4(NEO1):c.2092+6C>A	NEO1	Single nucleotide variant (intron variant)	NEO1-related condition	GLikely benign
Select item 3033946	NM_002499.4(NEO1):c.1458T>C (p.Arg486=)	NEO1	Single nucleotide variant (synonymous variant)	NEO1-related condition	GBenign
Select item 3031088	NM_002499.4(NEO1):c.1338G>A (p.Val446=)	NEO1	Single nucleotide variant (synonymous variant)	NEO1-related condition	GLikely benign
Select item 2645515	NM_002499.4(NEO1):c.53T>C (p.Leu18Pro)	LOC130057491, NEO1 (L18P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2636884	NM_002499.4(NEO1):c.1985A>G (p.Gln662Arg)	NEO1 (Q662R +1 more)	Single nucleotide variant (missense variant)	NEO1-related condition	GUncertain significance
Select item 2628787	NM_002499.4(NEO1):c.2807G>A (p.Arg936Gln)	NEO1 (R936Q +1 more)	Single nucleotide variant (missense variant)	NEO1-related condition	GUncertain significance
Select item 2622155	NM_002499.4(NEO1):c.4157C>G (p.Ser1386Cys)	NEO1 (S1406C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620851	NM_002499.4(NEO1):c.2009A>G (p.Lys670Arg)	NEO1 (K670R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599326	NM_002499.4(NEO1):c.2143A>G (p.Asn715Asp)	NEO1 (N715D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597744	NM_002499.4(NEO1):c.2443G>A (p.Val815Met)	NEO1 (V835M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596670	NM_002499.4(NEO1):c.3955A>G (p.Thr1319Ala)	NEO1 (T1266A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591033	NM_002499.4(NEO1):c.3734C>T (p.Pro1245Leu)	NEO1 (P1234L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589902	NM_002499.4(NEO1):c.3370G>T (p.Ala1124Ser)	NEO1 (A1113S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2574692	GRCh37/hg19 15q24.1-24.2(chr15:72943184-76085232)	ADPGK, ARID3B +48 more	Copy number loss	Chromosome 15q24 deletion syndrome	GPathogenic
Select item 2534965	NM_002499.4(NEO1):c.2158G>C (p.Ala720Pro)	NEO1 (A720P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530877	NM_002499.4(NEO1):c.1114G>A (p.Val372Met)	NEO1 (V372M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527411	NM_002499.4(NEO1):c.1652C>T (p.Ser551Leu)	NEO1 (S551L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526352	NM_002499.4(NEO1):c.3718C>G (p.Pro1240Ala)	NEO1 (P1260A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521289	NM_002499.4(NEO1):c.737T>A (p.Ile246Lys)	NEO1 (I246K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512563	NM_002499.4(NEO1):c.2021G>A (p.Arg674Gln)	NEO1 (R694Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511454	NM_002499.4(NEO1):c.44C>A (p.Ser15Tyr)	LOC130057491, NEO1 (S15Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	ISLR2, MESD +209 more	Copy number gain	not provided	GPathogenic
Select item 2495097	NM_002499.4(NEO1):c.1766T>C (p.Val589Ala)	NEO1 (V589A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490154	NM_002499.4(NEO1):c.2032C>G (p.Arg678Gly)	NEO1 (R678G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479522	NM_002499.4(NEO1):c.2636T>C (p.Leu879Pro)	NEO1 (L879P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461778	NM_002499.4(NEO1):c.3128T>A (p.Met1043Lys)	NEO1 (M1043K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456080	NM_002499.4(NEO1):c.1880G>A (p.Arg627Gln)	NEO1 (R627Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2427095	NC_000015.9:g.(?_72978569)_(75190071_?)dup	ADPGK, ARID3B +29 more	Duplication	Bardet-Biedl syndrome	GUncertain significance
Select item 2425358	NC_000015.9:g.(?_72847592)_(73660611_?)dup	ADPGK, ARIH1 +4 more	Duplication	Brugada syndrome 8	GUncertain significance
Select item 2423198	NC_000015.9:g.(?_72636418)_(73660611_?)dup	ADPGK, ARIH1 +6 more	Duplication	Tay-Sachs disease	GUncertain significance
Select item 2410591	NM_002499.4(NEO1):c.3038A>G (p.Asn1013Ser)	NEO1 (N1013S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408233	NM_002499.4(NEO1):c.1201G>T (p.Val401Leu)	NEO1 (V401L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407004	NM_002499.4(NEO1):c.1304C>T (p.Thr435Met)	NEO1 (T435M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399932	NM_002499.4(NEO1):c.3578A>G (p.Asn1193Ser)	NEO1 (N1182S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388029	NM_002499.4(NEO1):c.3416G>A (p.Arg1139Gln)	NEO1 (R1139Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376337	NM_002499.4(NEO1):c.103A>T (p.Arg35Trp)	LOC130057491, NEO1 (R35W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362662	NM_002499.4(NEO1):c.3524T>C (p.Ile1175Thr)	NEO1 (I1164T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359447	NM_002499.4(NEO1):c.3161C>T (p.Ala1054Val)	NEO1 (A1054V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2357420	NM_002499.4(NEO1):c.706G>A (p.Glu236Lys)	NEO1 (E236K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353844	NM_002499.4(NEO1):c.907G>A (p.Gly303Ser)	NEO1 (G303S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351420	NM_002499.4(NEO1):c.2015G>A (p.Arg672His)	NEO1 (R672H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346822	NM_002499.4(NEO1):c.1522G>T (p.Val508Leu)	NEO1 (V508L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343123	NM_002499.4(NEO1):c.295G>A (p.Asp99Asn)	NEO1 (D99N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342145	NM_002499.4(NEO1):c.2974A>C (p.Ile992Leu)	NEO1 (I992L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340956	NM_002499.4(NEO1):c.2251G>A (p.Val751Ile)	NEO1 (V751I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338301	NM_002499.4(NEO1):c.3682G>T (p.Ala1228Ser)	NEO1 (A1228S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330595	NM_002499.4(NEO1):c.3272G>A (p.Ser1091Asn)	NEO1 (S1091N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330155	NM_002499.4(NEO1):c.2912A>G (p.Lys971Arg)	NEO1 (K971R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2328671	NM_002499.4(NEO1):c.3445C>T (p.His1149Tyr)	NEO1 (H1149Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325468	NM_002499.4(NEO1):c.4021G>C (p.Glu1341Gln)	NEO1 (E1330Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313369	NM_002499.4(NEO1):c.3386G>A (p.Arg1129His)	NEO1 (R1118H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310632	NM_002499.4(NEO1):c.503A>G (p.Asn168Ser)	NEO1 (N168S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2307939	NM_002499.4(NEO1):c.2269A>G (p.Ser757Gly)	NEO1 (S757G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292662	NM_002499.4(NEO1):c.3907G>T (p.Val1303Phe)	NEO1 (V1250F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288323	NM_002499.4(NEO1):c.275T>C (p.Phe92Ser)	NEO1 (F92S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280512	NM_002499.4(NEO1):c.2065G>A (p.Gly689Arg)	NEO1 (G689R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279512	NM_002499.4(NEO1):c.613A>T (p.Met205Leu)	NEO1 (M205L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274133	NM_002499.4(NEO1):c.1673C>G (p.Thr558Arg)	NEO1 (T558R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269122	NM_002499.4(NEO1):c.1180A>G (p.Asn394Asp)	NEO1 (N394D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260952	NM_002499.4(NEO1):c.2156C>T (p.Pro719Leu)	NEO1 (P719L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247292	NM_002499.4(NEO1):c.457A>G (p.Arg153Gly)	NEO1 (R153G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227339	NM_002499.4(NEO1):c.1381A>G (p.Thr461Ala)	NEO1 (T461A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209750	NM_002499.4(NEO1):c.3561T>G (p.Asp1187Glu)	NEO1 (D1176E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207834	NM_002499.4(NEO1):c.3962G>A (p.Cys1321Tyr)	NEO1 (C1310Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206003	NM_002499.4(NEO1):c.2075T>C (p.Leu692Pro)	NEO1 (L692P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1458323	NC_000015.9:g.(?_72103084)_(74244178_?)del	ADPGK, ARIH1 +19 more	Deletion	Tay-Sachs disease	GPathogenic
Select item 1353978	NC_000015.9:g.(?_72978569)_(75722716_?)del	ADPGK, ARID3B +41 more	Deletion	not provided	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 980531	GRCh37/hg19 15q23-24.1(chr15:70268937-74098081)x1	BBS4, NR2E3 +24 more	Copy number loss	not provided	GLikely pathogenic
Select item 831142	NC_000015.10:g.(?_72353681)_(73368280_?)dup	NEO1, TMEM202 +6 more	Duplication	Brugada syndrome 8	GUncertain significance
Select item 815734	GRCh37/hg19 15q24.1-24.2(chr15:72943184-75567198)x1	ADPGK, ARID3B +37 more	Copy number loss	not provided	GPathogenic
Select item 813843	GRCh37/hg19 15q24.1(chr15:73525422-73571525)x1	NEO1	Copy number loss	Neurodevelopmental delay +1 more	GUncertain significance
Select item 786276	NM_002499.4(NEO1):c.4266G>A (p.Val1422=)	NEO1	Single nucleotide variant (synonymous variant)	NEO1-related condition +1 more	GBenign
Select item 786275	NM_002499.4(NEO1):c.1401C>T (p.His467=)	NEO1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777250	NM_002499.4(NEO1):c.663C>T (p.Cys221=)	NEO1	Single nucleotide variant (synonymous variant)	NEO1-related condition +1 more	GBenign/Likely benign
Select item 771006	NM_002499.4(NEO1):c.879-8T>A	NEO1	Single nucleotide variant (intron variant)	NEO1-related condition +1 more	GBenign
Select item 732123	NM_002499.4(NEO1):c.911G>A (p.Ser304Asn)	NEO1 (S304N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 688752	GRCh37/hg19 15q24.1(chr15:73449002-73477563)x1	NEO1	Copy number loss	not provided	GUncertain significance

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