ClinVar for Gene (Select 89796) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3298500	NM_001389617.1(NAV1):c.1442G>A (p.Ser481Asn)	NAV1 (S481N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298499	NM_001389617.1(NAV1):c.2293G>A (p.Glu765Lys)	IPO9-AS1, NAV1 (E478K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298498	NM_001389617.1(NAV1):c.3664A>G (p.Ser1222Gly)	IPO9-AS1, NAV1 (S1222G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298497	NM_001389617.1(NAV1):c.4687G>A (p.Val1563Met)	IPO9-AS1, NAV1 (V1506M +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298496	NM_001389617.1(NAV1):c.3454G>A (p.Gly1152Ser)	IPO9-AS1, NAV1 (G1152S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298495	NM_001389617.1(NAV1):c.1901T>C (p.Met634Thr)	IPO9-AS1, NAV1 (M347T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298494	NM_001389617.1(NAV1):c.2324G>A (p.Ser775Asn)	IPO9-AS1, NAV1 (S488N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298492	NM_001389617.1(NAV1):c.3727G>C (p.Glu1243Gln)	IPO9-AS1, NAV1 (E1243Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	ADIPOR1, ADORA1 +185 more	Deletion	not provided	GPathogenic
Select item 3176860	NM_001389617.1(NAV1):c.949G>T (p.Ala317Ser)	NAV1 (A317S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176840	NM_001389617.1(NAV1):c.1322C>T (p.Ala441Val)	NAV1 (A441V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176836	NM_001389617.1(NAV1):c.5408C>T (p.Ser1803Leu)	IPO9-AS1, NAV1 (S1516L +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176830	NM_001389617.1(NAV1):c.5198G>C (p.Cys1733Ser)	IPO9-AS1, NAV1 (C1044S +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176815	NM_001389617.1(NAV1):c.5012G>A (p.Arg1671His)	IPO9-AS1, NAV1 (R1384H +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176808	NM_001389617.1(NAV1):c.4694C>T (p.Thr1565Ile)	IPO9-AS1, NAV1 (T819I +8 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3176805	NM_001389617.1(NAV1):c.4574C>G (p.Ser1525Trp)	IPO9-AS1, NAV1 (S1468W +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176800	NM_001389617.1(NAV1):c.1223G>T (p.Gly408Val)	NAV1 (G121V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176791	NM_001389617.1(NAV1):c.4442A>G (p.His1481Arg)	IPO9-AS1, NAV1 (H738R +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176787	NM_001389617.1(NAV1):c.4396C>G (p.Gln1466Glu)	IPO9-AS1, NAV1 (Q1401E +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176776	NM_001389617.1(NAV1):c.4111C>T (p.Arg1371Trp)	IPO9-AS1, NAV1 (R1084W +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176772	NM_001389617.1(NAV1):c.4100C>A (p.Ser1367Tyr)	IPO9-AS1, NAV1 (S1310Y +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176755	NM_001389617.1(NAV1):c.3466C>T (p.Pro1156Ser)	IPO9-AS1, NAV1 (P1156S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176750	NM_001389617.1(NAV1):c.1109C>T (p.Ser370Phe)	NAV1 (S83F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176727	NM_001389617.1(NAV1):c.2941G>A (p.Val981Met)	IPO9-AS1, NAV1 (V694M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176722	NM_001389617.1(NAV1):c.2917G>A (p.Gly973Ser)	IPO9-AS1, NAV1 (G295S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176701	NM_001389617.1(NAV1):c.2566G>A (p.Val856Met)	IPO9-AS1, NAV1 (V178M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176695	NM_001389617.1(NAV1):c.2434C>T (p.His812Tyr)	IPO9-AS1, NAV1 (H134Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176690	NM_001389617.1(NAV1):c.2363G>A (p.Arg788Gln)	IPO9-AS1, NAV1 (R110Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176680	NM_001389617.1(NAV1):c.2030T>C (p.Met677Thr)	IPO9-AS1, NAV1 (M390T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062955	GRCh37/hg19 1q32.1(chr1:199373229-204335027)x3	ADIPOR1, ADORA1 +58 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062655	GRCh37/hg19 1q31.3-32.1(chr1:197216705-203683110)x1	ADIPOR1, ADORA1 +57 more	Copy number loss	not specified	GLikely pathogenic
Select item 2639784	NM_001389617.1(NAV1):c.2226+4C>T	IPO9-AS1, NAV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2604326	NM_001389617.1(NAV1):c.2795G>A (p.Arg932His)	IPO9-AS1, NAV1 (R645H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602877	NM_001389617.1(NAV1):c.2278T>C (p.Phe760Leu)	IPO9-AS1, NAV1 (F473L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601651	NM_001389617.1(NAV1):c.2615G>A (p.Arg872His)	IPO9-AS1, NAV1 (R872H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597549	NM_001389617.1(NAV1):c.1877C>T (p.Ser626Leu)	IPO9-AS1, NAV1 (S626L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597459	NM_001389617.1(NAV1):c.5065A>G (p.Thr1689Ala)	IPO9-AS1, NAV1 (T1632A +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568965	NM_001389617.1(NAV1):c.1840G>T (p.Ala614Ser)	IPO9-AS1, NAV1 (A614S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557551	NM_001389617.1(NAV1):c.3311C>A (p.Thr1104Asn)	IPO9-AS1, NAV1 (T817N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555604	NM_001389617.1(NAV1):c.3034C>T (p.Arg1012Trp)	IPO9-AS1, NAV1 (R334W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548126	NM_001389617.1(NAV1):c.1811G>A (p.Arg604His)	IPO9-AS1, NAV1 (R317H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542532	NM_001389617.1(NAV1):c.3474G>C (p.Glu1158Asp)	IPO9-AS1, NAV1 (E871D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542160	NM_001389617.1(NAV1):c.3329T>C (p.Val1110Ala)	IPO9-AS1, NAV1 (V432A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535669	NM_001389617.1(NAV1):c.4784C>T (p.Ser1595Leu)	IPO9-AS1, NAV1 (S1527L +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534317	NM_001389617.1(NAV1):c.913G>A (p.Gly305Ser)	NAV1 (G305S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534316	NM_001389617.1(NAV1):c.910A>G (p.Ser304Gly)	NAV1 (S17G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534315	NM_001389617.1(NAV1):c.1081A>G (p.Ser361Gly)	NAV1 (S74G +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2525146	NM_001389617.1(NAV1):c.4883C>A (p.Thr1628Asn)	IPO9-AS1, NAV1 (T1628N +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513123	NM_001389617.1(NAV1):c.3070G>C (p.Glu1024Gln)	IPO9-AS1, NAV1 (E346Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491219	NM_001389617.1(NAV1):c.3910A>T (p.Thr1304Ser)	IPO9-AS1, NAV1 (T1017S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488967	NM_001389617.1(NAV1):c.4346G>A (p.Gly1449Glu)	IPO9-AS1, NAV1 (G1162E +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485185	NM_001389617.1(NAV1):c.2018A>G (p.Lys673Arg)	IPO9-AS1, NAV1 (K673R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484426	NM_001389617.1(NAV1):c.6479T>C (p.Leu2160Pro)	IPO9-AS1, NAV1 (L1425P +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482837	NM_001389617.1(NAV1):c.2872C>T (p.Arg958Cys)	IPO9-AS1, NAV1 (R958C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479067	NM_001389617.1(NAV1):c.2683A>G (p.Lys895Glu)	IPO9-AS1, NAV1 (K217E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463381	NM_001389617.1(NAV1):c.3571G>A (p.Val1191Ile)	IPO9-AS1, NAV1 (V904I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2460134	NM_001389617.1(NAV1):c.3674G>A (p.Arg1225Gln)	IPO9-AS1, NAV1 (R938Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2430090	NM_001389617.1(NAV1):c.6015G>A (p.Trp2005Ter)	IPO9-AS1, NAV1 (W1259* +8 more)	Single nucleotide variant (nonsense)	Autism spectrum disorder	GLikely benign
Select item 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	EIF2D, ELF3 +90 more	Duplication	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	ADIPOR1, ADORA1 +110 more	Duplication	not provided	GUncertain significance
Select item 2405015	NM_001389617.1(NAV1):c.4394G>T (p.Arg1465Ile)	IPO9-AS1, NAV1 (R730I +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400806	NM_001389617.1(NAV1):c.6376A>G (p.Ser2126Gly)	IPO9-AS1, NAV1 (S2058G +8 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2396894	NM_001389617.1(NAV1):c.1062C>G (p.Phe354Leu)	NAV1 (F354L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393131	NM_001389617.1(NAV1):c.1001C>G (p.Ala334Gly)	NAV1 (A47G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392452	NM_001389617.1(NAV1):c.3403A>G (p.Ile1135Val)	IPO9-AS1, NAV1 (I1135V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390580	NM_001389617.1(NAV1):c.2230C>T (p.Arg744Cys)	IPO9-AS1, NAV1 (R66C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375960	NM_001389617.1(NAV1):c.3617C>T (p.Thr1206Met)	IPO9-AS1, NAV1 (T919M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373218	NM_001389617.1(NAV1):c.3633G>C (p.Trp1211Cys)	IPO9-AS1, NAV1 (W533C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367415	NM_001389617.1(NAV1):c.6206A>G (p.His2069Arg)	IPO9-AS1, NAV1 (H1323R +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352807	NM_001389617.1(NAV1):c.3814C>T (p.Leu1272Phe)	IPO9-AS1, NAV1 (L1272F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347739	NM_001389617.1(NAV1):c.5047G>A (p.Gly1683Ser)	IPO9-AS1, NAV1 (G1396S +8 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2320393	NM_001389617.1(NAV1):c.1517C>A (p.Ser506Tyr)	NAV1 (S219Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319822	NM_001389617.1(NAV1):c.1943G>A (p.Arg648His)	IPO9-AS1, NAV1 (R361H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314414	NM_001389617.1(NAV1):c.2227C>G (p.Leu743Val)	IPO9-AS1, NAV1 (L456V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304564	NM_001389617.1(NAV1):c.2654G>A (p.Arg885His)	IPO9-AS1, NAV1 (R207H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301580	NM_001389617.1(NAV1):c.1850C>T (p.Ala617Val)	IPO9-AS1, NAV1 (A330V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281459	NM_001389617.1(NAV1):c.4475C>T (p.Ala1492Val)	IPO9-AS1, NAV1 (A1205V +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278023	NM_001389617.1(NAV1):c.4055C>G (p.Ser1352Cys)	IPO9-AS1, NAV1 (S1065C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271512	NM_001389617.1(NAV1):c.4297A>G (p.Ile1433Val)	IPO9-AS1, NAV1 (I1376V +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268915	NM_001389617.1(NAV1):c.1771G>A (p.Val591Met)	IPO9-AS1, NAV1 (V591M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268574	NM_001389617.1(NAV1):c.1906G>A (p.Gly636Ser)	IPO9-AS1, NAV1 (G636S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261263	NM_001389617.1(NAV1):c.2854C>T (p.Arg952Cys)	IPO9-AS1, NAV1 (R665C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247812	NM_001389617.1(NAV1):c.5014C>T (p.Arg1672Cys)	IPO9-AS1, NAV1 (R1604C +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238579	NM_001389617.1(NAV1):c.3377C>T (p.Ser1126Phe)	IPO9-AS1, NAV1 (S448F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216108	NM_001389617.1(NAV1):c.3260A>G (p.Asn1087Ser)	IPO9-AS1, NAV1 (N1087S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1527448	GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)	ACBD6, APOBEC4 +98 more	Copy number loss	not specified	GPathogenic
Select item 1335007	NM_001389617.1(NAV1):c.3132T>C (p.Ser1044=)	IPO9-AS1, NAV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1335006	NM_001389617.1(NAV1):c.1012GGC[3] (p.Gly341_Gly342del)	NAV1	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 1225724	NM_001389617.1(NAV1):c.1329C>T (p.Gly443=)	NAV1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	NUCKS1, NUDT17 +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CD34, MDM4 +145 more	Copy number gain	not provided	Gnot provided
Select item 783302	NM_001389617.1(NAV1):c.2394A>C (p.Ser798=)	IPO9-AS1, NAV1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780295	NM_001389617.1(NAV1):c.1105G>A (p.Ala369Thr)	NAV1 (A82T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 775152	NM_001389617.1(NAV1):c.6399G>C (p.Leu2133=)	IPO9-AS1, NAV1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 771318	NM_001389617.1(NAV1):c.2739C>G (p.Ala913=)	IPO9-AS1, NAV1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 770686	NM_001389617.1(NAV1):c.4191G>T (p.Leu1397=)	IPO9-AS1, NAV1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 767742	NM_001389617.1(NAV1):c.918C>A (p.Gly306=)	NAV1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 719769	NM_001389617.1(NAV1):c.5449C>T (p.Leu1817=)	IPO9-AS1, NAV1	Single nucleotide variant (synonymous variant)	not provided	GBenign

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