ClinVar for Gene (Select 79443) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 461

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359081	NM_024513.4(FYCO1):c.2386C>T (p.Gln796Ter)	FYCO1 (Q596* +3 more)	Single nucleotide variant (nonsense +1 more)	Cataract 18	GPathogenic
Select item 3347601	NM_024513.4(FYCO1):c.2147dup (p.Glu717fs)	FYCO1 (E517fs +3 more)	Duplication (frameshift variant +1 more)	FYCO1-related disorder	GLikely pathogenic
Select item 3280269	NM_024513.4(FYCO1):c.513G>T (p.Leu171Phe)	FYCO1 (L171F +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3280268	NM_024513.4(FYCO1):c.4296C>G (p.Ile1432Met)	FYCO1 (I1432M +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3280267	NM_024513.4(FYCO1):c.2401G>C (p.Ala801Pro)	FYCO1 (A761P +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3280266	NM_024513.4(FYCO1):c.2264G>C (p.Gly755Ala)	FYCO1 (G715A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3280265	NM_024513.4(FYCO1):c.689A>G (p.Glu230Gly)	FYCO1 (E30G +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3280264	NM_024513.4(FYCO1):c.1988T>C (p.Leu663Pro)	FYCO1 (L463P +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3280262	NM_024513.4(FYCO1):c.1163G>A (p.Arg388Gln)	FYCO1 (R340Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3280261	NM_024513.4(FYCO1):c.3994G>A (p.Val1332Met)	FYCO1 (V1331M +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3280260	NM_024513.4(FYCO1):c.2177G>A (p.Arg726Gln)	FYCO1 (R678Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3280259	NM_024513.4(FYCO1):c.1060A>G (p.Thr354Ala)	FYCO1 (T306A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3280258	NM_024513.4(FYCO1):c.1012C>T (p.Arg338Trp)	FYCO1 (R138W +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3270429	NM_006564.2(CXCR6):c.85T>A (p.Phe29Ile)	CXCR6, FYCO1 (F29I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3257352	NM_024513.4(FYCO1):c.2710_2713del (p.Asp904fs)	FYCO1 (D704fs +3 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 3256945	NM_024513.4(FYCO1):c.1924del (p.Leu642fs)	FYCO1 (L442fs +3 more)	Deletion (frameshift variant +1 more)	Susceptibility to severe COVID-19	GLikely pathogenic
Select item 3256930	NM_024513.4(FYCO1):c.3536del (p.Cys1179fs)	FYCO1 (C1131fs +3 more)	Deletion (frameshift variant +1 more)	Susceptibility to severe COVID-19	GLikely pathogenic
Select item 3097635	NM_024513.4(FYCO1):c.994G>A (p.Asp332Asn)	FYCO1 (D132N +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3097634	NM_024513.4(FYCO1):c.84T>A (p.Phe28Leu)	FYCO1 (F28L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3097633	NM_024513.4(FYCO1):c.754C>T (p.Arg252Cys)	FYCO1 (R204C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3097632	NM_024513.4(FYCO1):c.4301G>A (p.Gly1434Asp)	FYCO1 (G1386D +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3097630	NM_024513.4(FYCO1):c.3958A>G (p.Thr1320Ala)	FYCO1 (T1120A +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3097629	NM_024513.4(FYCO1):c.3426A>G (p.Ile1142Met)	FYCO1 (I1102M +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3097628	NM_024513.4(FYCO1):c.3016C>A (p.Gln1006Lys)	FYCO1 (Q806K +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3097626	NM_024513.4(FYCO1):c.2699G>A (p.Arg900Gln)	FYCO1 (R700Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3097625	NM_024513.4(FYCO1):c.2581G>A (p.Asp861Asn)	FYCO1 (D661N +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3097624	NM_024513.4(FYCO1):c.2455G>A (p.Val819Ile)	FYCO1 (V771I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3097623	NM_024513.4(FYCO1):c.1621C>A (p.Gln541Lys)	FYCO1 (Q501K +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3097622	NM_024513.4(FYCO1):c.136T>C (p.Ser46Pro)	FYCO1 (S46P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3097620	NM_024513.4(FYCO1):c.1061C>T (p.Thr354Ile)	FYCO1 (T306I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3079221	NM_006564.2(CXCR6):c.938G>A (p.Gly313Glu)	CXCR6, FYCO1 (G313E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079220	NM_006564.2(CXCR6):c.625G>A (p.Val209Ile)	CXCR6, FYCO1 (V209I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079219	NM_006564.2(CXCR6):c.281A>G (p.Glu94Gly)	CXCR6, FYCO1 (E94G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3059950	NM_024513.4(FYCO1):c.2761C>A (p.Arg921=)	FYCO1	Single nucleotide variant (synonymous variant +1 more)	FYCO1-related disorder	GLikely benign
Select item 3054988	NM_024513.4(FYCO1):c.1990G>T (p.Glu664Ter)	FYCO1 (E464* +3 more)	Single nucleotide variant (nonsense +1 more)	FYCO1-related disorder	GLikely pathogenic
Select item 3050432	NM_024513.4(FYCO1):c.1602G>A (p.Glu534=)	FYCO1	Single nucleotide variant (synonymous variant +1 more)	FYCO1-related disorder	GLikely benign
Select item 3046921	NM_024513.4(FYCO1):c.4218G>A (p.Gln1406=)	FYCO1	Single nucleotide variant (synonymous variant +1 more)	FYCO1-related disorder	GLikely benign
Select item 3046836	NM_024513.4(FYCO1):c.3270-2A>C	FYCO1	Single nucleotide variant (splice acceptor variant)	FYCO1-related disorder	GPathogenic
Select item 3031118	NM_024513.4(FYCO1):c.2673C>T (p.His891=)	FYCO1	Single nucleotide variant (synonymous variant +1 more)	FYCO1-related disorder	GLikely benign
Select item 3030952	NM_024513.4(FYCO1):c.2766G>A (p.Val922=)	FYCO1	Single nucleotide variant (synonymous variant +1 more)	FYCO1-related disorder	GLikely benign
Select item 3029278	NM_024513.4(FYCO1):c.4270C>T (p.Arg1424Ter)	FYCO1 (R1224* +4 more)	Single nucleotide variant (nonsense +2 more)	FYCO1-related disorder	GPathogenic
Select item 3020784	NM_024513.4(FYCO1):c.990G>A (p.Glu330=)	FYCO1	Single nucleotide variant (synonymous variant +1 more)	Cataract 18	GLikely benign
Select item 2903803	NM_024513.4(FYCO1):c.3968C>T (p.Thr1323Met)	FYCO1 (T1322M +4 more)	Single nucleotide variant (missense variant +1 more)	Cataract 18	GLikely benign
Select item 2893775	NM_024513.4(FYCO1):c.417C>T (p.Ser139=)	FYCO1	Single nucleotide variant (synonymous variant +2 more)	Cataract 18	GLikely benign
Select item 2871529	NM_024513.4(FYCO1):c.3645C>T (p.His1215=)	FYCO1	Single nucleotide variant (synonymous variant +1 more)	Cataract 18	GLikely benign
Select item 2850880	NM_024513.4(FYCO1):c.4176CTC[1] (p.Ser1394del)	FYCO1 (S1354del +4 more)	Microsatellite (inframe_deletion +1 more)	Cataract 18	GUncertain significance
Select item 2728261	NM_024513.4(FYCO1):c.2328G>A (p.Ala776=)	FYCO1	Single nucleotide variant (synonymous variant +1 more)	Cataract 18	GLikely benign
Select item 2719180	NM_024513.4(FYCO1):c.4324G>A (p.Gly1442Ser)	FYCO1 (G1242S +4 more)	Single nucleotide variant (missense variant +2 more)	Cataract 18	GUncertain significance
Select item 2712335	NM_024513.4(FYCO1):c.396T>C (p.Ser132=)	FYCO1	Single nucleotide variant (synonymous variant +2 more)	Cataract 18	GUncertain significance
Select item 2708574	NM_024513.4(FYCO1):c.3367A>G (p.Met1123Val)	FYCO1 (M1075V +3 more)	Single nucleotide variant (missense variant +1 more)	Cataract 18	GUncertain significance
Select item 2653730	NM_024513.4(FYCO1):c.2142G>A (p.Glu714=)	FYCO1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2653729	NM_024513.4(FYCO1):c.4007C>T (p.Ser1336Leu)	FYCO1 (S1136L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2636094	NM_024513.4(FYCO1):c.3670C>T (p.Arg1224Ter)	FYCO1 (R1024* +3 more)	Single nucleotide variant (nonsense +1 more)	FYCO1-related disorder	GPathogenic
Select item 2628477	NM_024513.4(FYCO1):c.1950G>C (p.Gln650His)	FYCO1 (Q450H +3 more)	Single nucleotide variant (missense variant +1 more)	FYCO1-related disorder	GUncertain significance
Select item 2619529	NM_006564.2(CXCR6):c.760C>T (p.Arg254Cys)	CXCR6, FYCO1 (R254C)	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 2616897	NM_024513.4(FYCO1):c.3283C>G (p.Leu1095Val)	FYCO1 (L895V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2616725	NM_024513.4(FYCO1):c.4154G>A (p.Gly1385Asp)	FYCO1 (G1384D +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2608338	NM_024513.4(FYCO1):c.3832G>A (p.Ala1278Thr)	FYCO1 (A1230T +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2597266	NM_024513.4(FYCO1):c.559T>C (p.Ser187Pro)	FYCO1 (S139P +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2595000	NM_024513.4(FYCO1):c.1340G>A (p.Arg447His)	FYCO1 (R247H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2593751	NM_024513.4(FYCO1):c.3347G>A (p.Arg1116His)	FYCO1 (R1076H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2562486	NM_024513.4(FYCO1):c.1916T>G (p.Leu639Arg)	FYCO1 (L639R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2562485	NM_024513.4(FYCO1):c.1915C>G (p.Leu639Val)	FYCO1 (L599V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2558192	NM_024513.4(FYCO1):c.1808C>A (p.Thr603Asn)	FYCO1 (T603N +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2557250	NM_024513.4(FYCO1):c.80A>T (p.Glu27Val)	FYCO1 (E27V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2547799	NM_024513.4(FYCO1):c.1657C>T (p.Leu553Phe)	FYCO1 (L553F +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2542864	NM_024513.4(FYCO1):c.566C>A (p.Ala189Asp)	FYCO1 (A141D +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2541530	NM_024513.4(FYCO1):c.875C>T (p.Thr292Ile)	FYCO1 (T292I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2536360	NM_024513.4(FYCO1):c.2974C>T (p.Leu992Phe)	FYCO1 (L952F +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2525501	NM_024513.4(FYCO1):c.263T>C (p.Ile88Thr)	FYCO1 (I88T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2521881	NM_024513.4(FYCO1):c.3494G>A (p.Ser1165Asn)	FYCO1 (S1125N +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2515098	NM_024513.4(FYCO1):c.2653G>A (p.Glu885Lys)	FYCO1 (E845K +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2500891	NM_024513.4(FYCO1):c.3456G>A (p.Trp1152Ter)	FYCO1 (W1104* +3 more)	Single nucleotide variant (nonsense +1 more)	Cataract 18 +1 more	GLikely pathogenic
Select item 2497734	NM_024513.4(FYCO1):c.1493A>C (p.Gln498Pro)	FYCO1 (Q298P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2496080	NM_024513.4(FYCO1):c.1963G>A (p.Ala655Thr)	FYCO1 (A607T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2482334	NM_024513.4(FYCO1):c.3036G>T (p.Met1012Ile)	FYCO1 (M1012I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2477292	NM_024513.4(FYCO1):c.2072T>G (p.Met691Arg)	FYCO1 (M643R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2476828	NM_024513.4(FYCO1):c.4345G>A (p.Asp1449Asn)	FYCO1 (D1409N +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2468494	NM_024513.4(FYCO1):c.293G>A (p.Arg98Gln)	FYCO1 (R98Q +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2460989	NM_024513.4(FYCO1):c.1993G>C (p.Ala665Pro)	FYCO1 (A617P +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2425284	NC_000003.11:g.(?_45435946)_(49137751_?)dup	ALS2CL, ARIH2 +66 more	Duplication	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 2411498	NM_024513.4(FYCO1):c.3836T>A (p.Val1279Glu)	FYCO1 (V1231E +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2406157	NM_024513.4(FYCO1):c.2125T>C (p.Cys709Arg)	FYCO1 (C709R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2403913	NM_024513.4(FYCO1):c.3292G>A (p.Ala1098Thr)	FYCO1 (A1058T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2401349	NM_024513.4(FYCO1):c.2864A>G (p.Gln955Arg)	FYCO1 (Q755R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2396386	NM_024513.4(FYCO1):c.3908C>G (p.Thr1303Ser)	FYCO1 (T1263S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2377362	NM_006564.2(CXCR6):c.197C>T (p.Thr66Met)	CXCR6, FYCO1 (T66M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366010	NM_024513.4(FYCO1):c.2235G>C (p.Glu745Asp)	FYCO1 (E705D +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2354599	NM_006564.2(CXCR6):c.320G>A (p.Gly107Asp)	CXCR6, FYCO1 (G107D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340138	NM_024513.4(FYCO1):c.4076G>C (p.Ser1359Thr)	FYCO1 (S1159T +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2321431	NM_006564.2(CXCR6):c.847C>T (p.Leu283Phe)	CXCR6, FYCO1 (L283F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314608	NM_024513.4(FYCO1):c.3820C>A (p.Pro1274Thr)	FYCO1 (P1234T +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2307387	NM_006564.2(CXCR6):c.1009A>C (p.Thr337Pro)	CXCR6, FYCO1 (T337P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307066	NM_024513.4(FYCO1):c.1885G>T (p.Val629Phe)	FYCO1 (V581F +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2302876	NM_024513.4(FYCO1):c.3908C>T (p.Thr1303Ile)	FYCO1 (T1255I +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2287723	NM_024513.4(FYCO1):c.1372G>A (p.Glu458Lys)	FYCO1 (E258K +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2267512	NM_024513.4(FYCO1):c.889G>A (p.Glu297Lys)	FYCO1 (E257K +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2264056	NM_024513.4(FYCO1):c.803G>T (p.Ser268Ile)	FYCO1 (S268I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2251946	NM_024513.4(FYCO1):c.920C>T (p.Ala307Val)	FYCO1 (A267V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2248815	NM_024513.4(FYCO1):c.1471A>G (p.Arg491Gly)	FYCO1 (R291G +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

<< First< Prev

Page of 5