2972[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ABCD4, ACYP1 +1421 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1202 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056672, LOC130056673 +1071 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	ADSS1, AHNAK2 +880 more	Copy number gain	See cases	GPathogenic
Select item 146793	GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	ADSS1, AHNAK2 +754 more	Copy number loss	See cases	GPathogenic
Select item 146074	GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3	IGHD3-22, IGHD3-3 +670 more	Copy number gain	See cases	GPathogenic
Select item 57085	GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1	LINC00677, LINC01550 +666 more	Copy number loss	See cases	GPathogenic
Select item 146615	GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3	LOC130056627, LOC130056628 +653 more	Copy number gain	See cases	GPathogenic
Select item 144349	GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1	ADSS1, AHNAK2 +631 more	Copy number loss	See cases	GPathogenic
Select item 146084	GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3	MIR494, MIR495 +530 more	Copy number gain	See cases	GPathogenic
Select item 57267	GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1	ADSS1, AHNAK2 +582 more	Copy number loss	See cases	GPathogenic
Select item 155595	GRCh38/hg38 14q32.2-32.33(chr14:100582059-106877229)x1	LOC130056617, LOC130056618 +571 more	Copy number loss	See cases	GPathogenic
Select item 57413	GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1	LOC130056492, LOC130056485 +561 more	Copy number loss	See cases	GPathogenic
Select item 154386	GRCh38/hg38 14q32.31-32.33(chr14:101665602-106855263)x1	ADSS1, AHNAK2 +441 more	Copy number loss	See cases	GPathogenic
Select item 150835	GRCh38/hg38 14q32.31-32.33(chr14:101925670-106876323)x1	LINC00605, LINC00677 +416 more	Copy number loss	See cases	GPathogenic
Select item 153602	GRCh38/hg38 14q32.31-32.33(chr14:102239422-106877229)x1	BRF1, ADSS1 +397 more	Copy number loss	See cases	GPathogenic
Select item 2579167	GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1	MIR4538, MIR4539 +397 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 155087	GRCh38/hg38 14q32.31-32.33(chr14:102605096-106879298)x1	ADSS1, AHNAK2 +367 more	Copy number loss	See cases	GPathogenic
Select item 154526	GRCh38/hg38 14q32.32-32.33(chr14:103322414-106855263)x3	MIR4710, MIR5195 +304 more	Copy number gain	See cases	GPathogenic
Select item 57841	GRCh38/hg38 14q32.33(chr14:103784758-106870558)x1	ADSS1, AHNAK2 +256 more	Copy number loss	See cases	GPathogenic
Select item 154736	GRCh38/hg38 14q32.33(chr14:103823600-106879298)x1	ADSS1, AHNAK2 +256 more	Copy number loss	See cases	GPathogenic
Select item 154247	GRCh38/hg38 14q32.33(chr14:104051258-106877229)x1	LOC130056667, LOC130056668 +241 more	Copy number loss	See cases	GPathogenic
Select item 146500	GRCh38/hg38 14q32.33(chr14:104622881-106678844)x1	ADSS1, AHNAK2 +216 more	Copy number loss	See cases	GUncertain significance
Select item 150815	GRCh38/hg38 14q32.33(chr14:104872858-105605042)x3	AHNAK2, BRF1 +85 more	Copy number gain	See cases	GUncertain significance
Select item 146061	GRCh38/hg38 14q32.33(chr14:104953508-106873666)x1	AHNAK2, BRF1 +185 more	Copy number loss	See cases	GUncertain significance
Select item 146639	GRCh38/hg38 14q32.33(chr14:105023396-106850750)x1	IGHV1-46, IGHV1-58 +174 more	Copy number loss	See cases	GPathogenic
Select item 149902	GRCh38/hg38 14q32.33(chr14:105105705-106879501)x1	BRF1, BTBD6 +156 more	Copy number loss	See cases	GUncertain significance
Select item 153898	GRCh38/hg38 14q32.33(chr14:105138612-106877229)x1	LOC130056686, LOC130056687 +156 more	Copy number loss	See cases	GUncertain significance
Select item 57494	GRCh38/hg38 14q32.33(chr14:105141364-106855263)x1	BRF1, BTBD6 +154 more	Copy number loss	See cases	GUncertain significance
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 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 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 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 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)	BRF1-related disorder +1 more	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

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