BRF1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1711377	NM_001519.4(BRF1):c.*919G>A	BRF1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1298602	NM_001519.4(BRF1):c.*918C>T	BRF1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 735819	NM_001519.4(BRF1):c.2007T>C (p.Cys669=)	BRF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2546993	NM_001519.4(BRF1):c.2005T>C (p.Cys669Arg)	BRF1 (C431R +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3261758	NM_001519.4(BRF1):c.2003G>A (p.Gly668Asp)	BRF1 (G464D +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 753729	NM_001519.4(BRF1):c.1996+7G>A	BRF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 744931	NM_001519.4(BRF1):c.1980G>A (p.Gln660=)	BRF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1180555	NM_001519.4(BRF1):c.1954G>A (p.Gly652Arg)	BRF1 (G414R +5 more)	Single nucleotide variant (missense variant)	Colorectal cancer	GLikely pathogenic
Select item 2688679	NM_001519.4(BRF1):c.1947GGA[1] (p.Glu650del)	BRF1 (E412del +5 more)	Microsatellite (inframe_deletion)	Cerebellar-facial-dental syndrome	GUncertain significance
Select item 2385308	NM_001519.4(BRF1):c.1947G>T (p.Glu649Asp)	BRF1 (E534D +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 757033	NM_001519.4(BRF1):c.1944C>T (p.Asp648=)	BRF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3030943	NM_001519.4(BRF1):c.1941T>C (p.Pro647=)	BRF1	Single nucleotide variant (synonymous variant)	BRF1-related disorder	GLikely benign
Select item 2260591	NM_001519.4(BRF1):c.1934A>G (p.Glu645Gly)	BRF1 (E618G +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 786751	NM_001519.4(BRF1):c.1929C>T (p.Asp643=)	BRF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3053748	NM_001519.4(BRF1):c.1917C>T (p.Asp639=)	BRF1	Single nucleotide variant (synonymous variant)	BRF1-related disorder	GLikely benign
Select item 2233013	NM_001519.4(BRF1):c.1917C>G (p.Asp639Glu)	BRF1 (D524E +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3261754	NM_001519.4(BRF1):c.1915G>A (p.Asp639Asn)	BRF1 (D435N +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317580	NM_001519.4(BRF1):c.1909C>T (p.His637Tyr)	BRF1 (H399Y +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 715783	NM_001519.4(BRF1):c.1899C>T (p.Pro633=)	BRF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 725999	NM_001519.4(BRF1):c.1890G>A (p.Glu630=)	BRF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2263804	NM_001519.4(BRF1):c.1877C>T (p.Ala626Val)	BRF1 (A388V +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3135028	NM_001519.4(BRF1):c.1876G>A (p.Ala626Thr)	BRF1 (A533T +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1312087	NM_001519.4(BRF1):c.1832T>A (p.Leu611His)	BRF1 (L373H +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3135027	NM_001519.4(BRF1):c.1826C>G (p.Ala609Gly)	BRF1 (A494G +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2502711	NM_001519.4(BRF1):c.1793C>T (p.Thr598Met)	BRF1 (T360M +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2644905	NM_001519.4(BRF1):c.1772+336T>G	BRF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3135026	NM_001519.4(BRF1):c.1760G>T (p.Ser587Ile)	BRF1 (S472I +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232991	NM_001519.4(BRF1):c.1729G>C (p.Ala577Pro)	BRF1 (A577P +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 756673	NM_001519.4(BRF1):c.1725G>T (p.Thr575=)	BRF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1027934	NM_001519.4(BRF1):c.1714C>G (p.Arg572Gly)	BRF1 (R334G +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 218592	NM_001519.4(BRF1):c.1693G>T (p.Ala565Ser)	BRF1 (A472S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 739080	NM_001519.4(BRF1):c.1683C>T (p.Pro561=)	BRF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2501847	NM_001519.4(BRF1):c.1651G>A (p.Gly551Arg)	BRF1 (G313R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 719527	NM_001519.4(BRF1):c.1650C>T (p.Gly550=)	BRF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2223631	NM_001519.4(BRF1):c.1649del (p.Gly550fs)	BRF1 (G312fs +5 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 3261755	NM_001519.4(BRF1):c.1648G>C (p.Gly550Arg)	BRF1 (G312R +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135025	NM_001519.4(BRF1):c.1648G>A (p.Gly550Ser)	BRF1 (G312S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1303744	NM_001519.4(BRF1):c.1622G>T (p.Ser541Ile)	BRF1 (S303I +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 689745	NM_001519.4(BRF1):c.1592AGA[2] (p.Lys533del)	BRF1 (K295del +5 more)	Microsatellite (inframe_deletion)	Cerebellar-facial-dental syndrome	GUncertain significance
Select item 2275156	NM_001519.4(BRF1):c.1588G>C (p.Glu530Gln)	BRF1 (E530Q +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 373159	NM_001519.4(BRF1):c.1581G>T (p.Lys527Asn)	BRF1 (K434N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771001	NM_001519.4(BRF1):c.1560C>T (p.Thr520=)	BRF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2455216	NM_001519.4(BRF1):c.1538G>A (p.Arg513Gln)	BRF1 (R275Q +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3024683	NM_001519.4(BRF1):c.1533G>A (p.Lys511=)	BRF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3135024	NM_001519.4(BRF1):c.1516C>A (p.Pro506Thr)	BRF1 (P268T +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 724643	NM_001519.4(BRF1):c.1516-4C>G	BRF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 759429	NM_001519.4(BRF1):c.1459+7G>A	BRF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2630025	NM_001519.4(BRF1):c.1456_1457del (p.Arg486fs)	BRF1 (R248fs +5 more)	Microsatellite (frameshift variant)	BRF1-related disorder	GLikely pathogenic
Select item 2376346	NM_001519.4(BRF1):c.1448G>A (p.Arg483Gln)	BRF1 (R456Q +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067522	NM_001519.4(BRF1):c.1434C>T (p.Asn478=)	BRF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2258274	NM_001519.4(BRF1):c.1402C>T (p.Arg468Cys)	BRF1 (R230C +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3341744	NM_001519.4(BRF1):c.1383C>T (p.Ile461=)	BRF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644906	NM_001519.4(BRF1):c.1332C>T (p.Asp444=)	BRF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2491306	NM_001519.4(BRF1):c.1327G>C (p.Gly443Arg)	BRF1 (G205R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605891	NM_001519.4(BRF1):c.1321G>A (p.Ala441Thr)	BRF1 (A414T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3043255	NM_001519.4(BRF1):c.1315+7T>A	BRF1	Single nucleotide variant (intron variant)	BRF1-related disorder	GLikely benign
Select item 2384378	NM_001519.4(BRF1):c.1309G>A (p.Asp437Asn)	BRF1 (D233N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 753180	NM_001519.4(BRF1):c.1308C>T (p.Ser436=)	BRF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3135023	NM_001519.4(BRF1):c.1303A>T (p.Ser435Cys)	BRF1 (S197C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3135022	NM_001519.4(BRF1):c.1265G>A (p.Gly422Asp)	BRF1 (G307D +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 750334	NM_001519.4(BRF1):c.1242C>T (p.Pro414=)	BRF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2209783	NM_001519.4(BRF1):c.1228T>A (p.Ser410Thr)	BRF1 (S383T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2619164	NM_001519.4(BRF1):c.1219G>A (p.Ala407Thr)	BRF1 (A203T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2688680	NM_001519.4(BRF1):c.1207G>A (p.Gly403Ser)	BRF1 (G165S +4 more)	Single nucleotide variant (missense variant)	Cerebellar-facial-dental syndrome	GUncertain significance
Select item 2444352	NM_001519.4(BRF1):c.1204G>A (p.Gly402Ser)	BRF1 (G164S +4 more)	Single nucleotide variant (missense variant)	Cerebellar-facial-dental syndrome	GUncertain significance
Select item 2460347	NM_001519.4(BRF1):c.1201T>A (p.Trp401Arg)	BRF1 (W163R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2476444	NM_001519.4(BRF1):c.1192A>T (p.Ser398Cys)	BRF1 (S160C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 793570	NM_001519.4(BRF1):c.1179G>A (p.Ser393=)	BRF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2206813	NM_001519.4(BRF1):c.1178C>T (p.Ser393Leu)	BRF1 (S155L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2644907	NM_001519.4(BRF1):c.1170C>T (p.Pro390=)	BRF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 729689	NM_001519.4(BRF1):c.1160GTG[1] (p.Gly388del)	BRF1 (G388del +4 more)	Microsatellite (inframe_deletion)	not provided	GBenign/Likely benign
Select item 755723	NM_001519.4(BRF1):c.1143A>G (p.Leu381=)	BRF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2507552	NM_001519.4(BRF1):c.1139A>G (p.Asp380Gly)	BRF1 (D265G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3135021	NM_001519.4(BRF1):c.1117G>T (p.Ala373Ser)	BRF1 (A258S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135020	NM_001519.4(BRF1):c.1117G>A (p.Ala373Thr)	BRF1 (A258T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 716593	NM_001519.4(BRF1):c.1101C>T (p.Asp367=)	BRF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3135019	NM_001519.4(BRF1):c.1074C>G (p.Ser358Arg)	BRF1 (S358R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 736452	NM_001519.4(BRF1):c.1071C>G (p.Ser357=)	BRF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2473034	NM_001519.4(BRF1):c.1067C>T (p.Ala356Val)	BRF1 (A118V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 713523	NM_001519.4(BRF1):c.1065C>T (p.Thr355=)	BRF1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2560721	NM_001519.4(BRF1):c.1057G>A (p.Glu353Lys)	BRF1 (E326K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3044811	NM_001519.4(BRF1):c.1056C>T (p.Thr352=)	BRF1	Single nucleotide variant (synonymous variant)	BRF1-related disorder	GLikely benign
Select item 2264905	NM_001519.4(BRF1):c.1025G>T (p.Gly342Val)	BRF1 (G315V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135018	NM_001519.4(BRF1):c.1015G>A (p.Ala339Thr)	BRF1 (A135T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 744164	NM_001519.4(BRF1):c.987G>C (p.Glu329Asp)	BRF1 (E329D +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1312098	NM_001519.4(BRF1):c.940C>A (p.Leu314Met)	BRF1 (L110M +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 708602	NM_001519.4(BRF1):c.927C>T (p.Val309=)	BRF1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 776865	NM_001519.4(BRF1):c.915+9G>A	BRF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3044004	NM_001519.4(BRF1):c.915+5C>G	BRF1	Single nucleotide variant (intron variant)	BRF1-related disorder	GLikely benign
Select item 1698107	NM_001519.4(BRF1):c.904C>T (p.Arg302Trp)	BRF1 (R187W +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 729867	NM_001519.4(BRF1):c.900G>A (p.Lys300=)	BRF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 745860	NM_001519.4(BRF1):c.879G>A (p.Ser293=)	BRF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2240805	NM_001519.4(BRF1):c.878C>G (p.Ser293Trp)	BRF1 (S266W +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1098377	NM_001519.4(BRF1):c.876dup (p.Ser293fs)	BRF1 (S178fs +4 more)	Duplication (frameshift variant)	See cases	GPathogenic
Select item 719028	NM_001519.4(BRF1):c.876C>G (p.Pro292=)	BRF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2229536	NM_001519.4(BRF1):c.875C>T (p.Pro292Leu)	BRF1 (P265L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1098378	NM_001519.4(BRF1):c.875C>G (p.Pro292Arg)	BRF1 (P177R +4 more)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 161426	NM_001519.4(BRF1):c.875C>A (p.Pro292His)	BRF1 (P177H +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3135034	NM_001519.4(BRF1):c.868G>A (p.Asp290Asn)	BRF1 (D290N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 725685	NM_001519.4(BRF1):c.867C>T (p.Cys289=)	BRF1	Single nucleotide variant (synonymous variant)	not provided	GBenign

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