14301[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 145586	GRCh38/hg38 3p22.3-22.1(chr3:33728406-40662451)x3	ACAA1, ACVR2B +176 more	Copy number gain	See cases	GPathogenic
Select item 3033912	NM_194293.4(XIRP1):c.*4C>T	XIRP1	Single nucleotide variant (3 prime UTR variant)	XIRP1-related disorder	GBenign
Select item 3191037	NM_194293.4(XIRP1):c.5492T>C (p.Val1831Ala)	XIRP1 (V1831A +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3046259	NM_194293.4(XIRP1):c.5489C>T (p.Thr1830Met)	XIRP1 (T1830M +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	XIRP1-related disorder	GLikely benign
Select item 2599408	NM_194293.4(XIRP1):c.5477C>T (p.Thr1826Ile)	XIRP1 (T1826I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2226018	NM_194293.4(XIRP1):c.5459G>A (p.Gly1820Glu)	XIRP1 (G1820E +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2614531	NM_194293.4(XIRP1):c.5435G>T (p.Arg1812Met)	XIRP1 (R1812M +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 783217	NM_194293.4(XIRP1):c.5415C>G (p.Leu1805=)	XIRP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3333369	NM_194293.4(XIRP1):c.5396C>T (p.Pro1799Leu)	XIRP1 (P1799L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3191036	NM_194293.4(XIRP1):c.5395C>T (p.Pro1799Ser)	XIRP1 (P1799S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 775859	NM_194293.4(XIRP1):c.5388C>G (p.Pro1796=)	XIRP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2269409	NM_194293.4(XIRP1):c.5371G>A (p.Glu1791Lys)	XIRP1 (E1791K +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 781707	NM_194293.4(XIRP1):c.5352G>A (p.Met1784Ile)	XIRP1 (M1784I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3038432	NM_194293.4(XIRP1):c.5302G>A (p.Val1768Met)	XIRP1 (V1768M +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	XIRP1-related disorder	GBenign
Select item 2218620	NM_194293.4(XIRP1):c.5287G>A (p.Gly1763Arg)	XIRP1 (G446R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3191034	NM_194293.4(XIRP1):c.5278C>A (p.Gln1760Lys)	XIRP1 (Q443K +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2402707	NM_194293.4(XIRP1):c.5261C>T (p.Thr1754Met)	XIRP1 (T437M +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3191033	NM_194293.4(XIRP1):c.5218C>A (p.Pro1740Thr)	XIRP1 (P1740T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3191032	NM_194293.4(XIRP1):c.5191C>T (p.Pro1731Ser)	XIRP1 (P414S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3059743	NM_194293.4(XIRP1):c.5185G>C (p.Val1729Leu)	XIRP1 (V1729L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	XIRP1-related disorder	GBenign
Select item 2219979	NM_194293.4(XIRP1):c.5179T>C (p.Cys1727Arg)	XIRP1 (C410R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2539572	NM_194293.4(XIRP1):c.5178G>C (p.Gln1726His)	XIRP1 (Q409H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 767894	NM_194293.4(XIRP1):c.5170A>G (p.Ile1724Val)	XIRP1 (I407V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3333382	NM_194293.4(XIRP1):c.5144T>A (p.Val1715Asp)	XIRP1 (V1715D +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 786008	NM_194293.4(XIRP1):c.5121G>T (p.Gln1707His)	XIRP1 (Q390H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3035363	NM_194293.4(XIRP1):c.5102T>C (p.Leu1701Pro)	XIRP1 (L1701P +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	XIRP1-related disorder	GLikely benign
Select item 2229074	NM_194293.4(XIRP1):c.5068G>A (p.Gly1690Ser)	XIRP1 (G1690S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2314079	NM_194293.4(XIRP1):c.5045C>T (p.Pro1682Leu)	XIRP1 (P365L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3191031	NM_194293.4(XIRP1):c.5038A>G (p.Arg1680Gly)	XIRP1 (R363G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3191030	NM_194293.4(XIRP1):c.5036C>T (p.Thr1679Ile)	XIRP1 (T1679I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3191029	NM_194293.4(XIRP1):c.5005T>A (p.Ser1669Thr)	XIRP1 (S1669T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3191028	NM_194293.4(XIRP1):c.5003C>T (p.Ser1668Phe)	XIRP1 (S351F +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3333372	NM_194293.4(XIRP1):c.4996T>C (p.Ser1666Pro)	XIRP1 (S1666P +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2285926	NM_194293.4(XIRP1):c.4995T>A (p.Asp1665Glu)	XIRP1 (D1665E +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3039515	NM_194293.4(XIRP1):c.4994A>G (p.Asp1665Gly)	XIRP1 (D1665G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	XIRP1-related disorder	GBenign
Select item 2395938	NM_194293.4(XIRP1):c.4973G>A (p.Arg1658Gln)	XIRP1 (R1658Q +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2319707	NM_194293.4(XIRP1):c.4954G>C (p.Glu1652Gln)	XIRP1 (E335Q +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3333373	NM_194293.4(XIRP1):c.4861G>T (p.Ala1621Ser)	XIRP1 (A304S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3060037	NM_194293.4(XIRP1):c.4823C>T (p.Ala1608Val)	XIRP1 (A1608V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	XIRP1-related disorder	GBenign
Select item 3056911	NM_194293.4(XIRP1):c.4810G>A (p.Gly1604Arg)	XIRP1 (G1604R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	XIRP1-related disorder	GBenign
Select item 718010	NM_194293.4(XIRP1):c.4766C>T (p.Thr1589Ile)	XIRP1 (T1589I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2462916	NM_194293.4(XIRP1):c.4661T>C (p.Val1554Ala)	XIRP1 (V1554A +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2335256	NM_194293.4(XIRP1):c.4658C>T (p.Ala1553Val)	XIRP1 (A1553V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2408407	NM_194293.4(XIRP1):c.4610C>T (p.Ala1537Val)	XIRP1 (A1537V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2462960	NM_194293.4(XIRP1):c.4591C>T (p.Arg1531Trp)	XIRP1 (R1531W +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3041251	NM_194293.4(XIRP1):c.4557G>A (p.Glu1519=)	XIRP1	Single nucleotide variant (3 prime UTR variant +1 more)	XIRP1-related disorder	GLikely benign
Select item 2653685	NM_194293.4(XIRP1):c.4554C>T (p.Pro1518=)	XIRP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 736365	NM_194293.4(XIRP1):c.4502T>C (p.Val1501Ala)	XIRP1 (V184A +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3058997	NM_194293.4(XIRP1):c.4501G>A (p.Val1501Met)	XIRP1 (V1501M +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	XIRP1-related disorder	GBenign
Select item 789981	NM_194293.4(XIRP1):c.4500C>T (p.Ala1500=)	XIRP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 183345	NM_194293.4(XIRP1):c.4495G>A (p.Glu1499Lys)	XIRP1 (E1499K +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2211061	NM_194293.4(XIRP1):c.4456G>A (p.Ala1486Thr)	XIRP1 (A1486T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3034000	NM_194293.4(XIRP1):c.4455C>A (p.Ala1485=)	XIRP1	Single nucleotide variant (3 prime UTR variant +1 more)	XIRP1-related disorder	GBenign
Select item 3333379	NM_194293.4(XIRP1):c.4369G>C (p.Ala1457Pro)	XIRP1 (A1457P +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3059810	NM_194293.4(XIRP1):c.4327G>A (p.Gly1443Ser)	XIRP1 (G126S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	XIRP1-related disorder	GBenign
Select item 3056119	NM_194293.4(XIRP1):c.4326C>T (p.Pro1442=)	XIRP1	Single nucleotide variant (3 prime UTR variant +1 more)	XIRP1-related disorder	GLikely benign
Select item 3191026	NM_194293.4(XIRP1):c.4301A>T (p.Asp1434Val)	XIRP1 (D117V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2297355	NM_194293.4(XIRP1):c.4280A>G (p.Lys1427Arg)	XIRP1 (K1427R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2569751	NM_194293.4(XIRP1):c.4249G>T (p.Gly1417Cys)	XIRP1 (G100C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2346077	NM_194293.4(XIRP1):c.4186C>G (p.Gln1396Glu)	XIRP1 (Q79E +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3191025	NM_194293.4(XIRP1):c.4156C>T (p.Pro1386Ser)	XIRP1 (P69S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2311368	NM_194293.4(XIRP1):c.4141G>A (p.Asp1381Asn)	XIRP1 (D64N +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2307233	NM_194293.4(XIRP1):c.4130C>T (p.Pro1377Leu)	XIRP1 (P1377L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2254112	NM_194293.4(XIRP1):c.4103C>A (p.Thr1368Lys)	XIRP1 (T1368K +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 767895	NM_194293.4(XIRP1):c.4061C>T (p.Ser1354Leu)	XIRP1 (S1354L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3038745	NM_194293.4(XIRP1):c.4048C>G (p.Pro1350Ala)	XIRP1 (P1350A +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	XIRP1-related disorder	GLikely benign
Select item 2315737	NM_194293.4(XIRP1):c.4039C>T (p.Pro1347Ser)	XIRP1 (P30S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2345107	NM_194293.4(XIRP1):c.4022G>A (p.Arg1341Lys)	XIRP1 (R24K +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 743354	NM_194293.4(XIRP1):c.4021A>G (p.Arg1341Gly)	XIRP1 (R1341G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3333378	NM_194293.4(XIRP1):c.3854A>T (p.Glu1285Val)	XIRP1 (E1285V)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3191024	NM_194293.4(XIRP1):c.3824G>A (p.Arg1275His)	XIRP1 (R1275H)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 3038836	NM_194293.4(XIRP1):c.3772C>A (p.Pro1258Thr)	XIRP1 (P1258T)	Single nucleotide variant (missense variant +1 more)	XIRP1-related disorder	GBenign
Select item 252806	NM_194293.4(XIRP1):c.3763C>T (p.Pro1255Ser)	XIRP1 (P1255S)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 3025462	NM_194293.4(XIRP1):c.3739C>T (p.Pro1247Ser)	XIRP1 (P1247S)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2387807	NM_194293.4(XIRP1):c.3716G>A (p.Gly1239Glu)	XIRP1 (G1239E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395357	NM_194293.4(XIRP1):c.3683C>T (p.Thr1228Ile)	XIRP1 (T1228I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358094	NM_194293.4(XIRP1):c.3682A>T (p.Thr1228Ser)	XIRP1 (T1228S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333371	NM_194293.4(XIRP1):c.3674C>T (p.Thr1225Ile)	XIRP1 (T1225I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300064	NM_194293.4(XIRP1):c.3607G>A (p.Ala1203Thr)	XIRP1 (A1203T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617429	NM_194293.4(XIRP1):c.3593G>C (p.Gly1198Ala)	XIRP1 (G1198A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2653686	NM_194293.4(XIRP1):c.3577C>T (p.Arg1193Trp)	XIRP1 (R1193W)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2536599	NM_194293.4(XIRP1):c.3557G>T (p.Gly1186Val)	XIRP1 (G1186V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329981	NM_194293.4(XIRP1):c.3551G>A (p.Gly1184Asp)	XIRP1 (G1184D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191023	NM_194293.4(XIRP1):c.3523G>A (p.Val1175Ile)	XIRP1 (V1175I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3041014	NM_194293.4(XIRP1):c.3442G>A (p.Val1148Met)	XIRP1 (V1148M)	Single nucleotide variant (missense variant +1 more)	XIRP1-related disorder	GLikely benign
Select item 3056235	NM_194293.4(XIRP1):c.3273C>T (p.Asp1091=)	XIRP1	Single nucleotide variant (synonymous variant +1 more)	XIRP1-related disorder	GBenign
Select item 2225792	NM_194293.4(XIRP1):c.3194C>A (p.Ala1065Asp)	XIRP1 (A1065D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 786009	NM_194293.4(XIRP1):c.3182C>T (p.Ala1061Val)	XIRP1 (A1061V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3191022	NM_194293.4(XIRP1):c.3179T>C (p.Met1060Thr)	XIRP1 (M1060T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3045397	NM_194293.4(XIRP1):c.3159C>T (p.Ala1053=)	XIRP1	Single nucleotide variant (synonymous variant +1 more)	XIRP1-related disorder	GLikely benign
Select item 2255929	NM_194293.4(XIRP1):c.3131C>T (p.Pro1044Leu)	XIRP1 (P1044L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598201	NM_194293.4(XIRP1):c.3119C>T (p.Thr1040Met)	XIRP1 (T1040M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 743232	NM_194293.4(XIRP1):c.3039A>G (p.Gln1013=)	XIRP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3333376	NM_194293.4(XIRP1):c.3019G>A (p.Glu1007Lys)	XIRP1 (E1007K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465369	NM_194293.4(XIRP1):c.2983C>G (p.Pro995Ala)	XIRP1 (P995A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513410	NM_194293.4(XIRP1):c.2940G>A (p.Met980Ile)	XIRP1 (M980I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3057077	NM_194293.4(XIRP1):c.2894A>C (p.His965Pro)	XIRP1 (H965P)	Single nucleotide variant (missense variant +1 more)	XIRP1-related disorder	GBenign
Select item 3191021	NM_194293.4(XIRP1):c.2875G>A (p.Glu959Lys)	XIRP1 (E959K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 711879	NM_194293.4(XIRP1):c.2856G>A (p.Pro952=)	XIRP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign

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