NFIB[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 495140	t(6;9)(q23.3;p22.3)	MYB, NFIB	Translocation	Adenoid cystic carcinoma	GPathogenic
Select item 495139	t(6;9)(q23.3;p22.3)	MYB, NFIB	Translocation	Adenoid cystic carcinoma	GPathogenic
Select item 495138	t(6;9)(q23.3;p22.3)	NFIB, MYB	Translocation	Adenoid cystic carcinoma	GPathogenic
Select item 495137	t(6;9)(q23.3;p22.3)	MYB, NFIB	Translocation	Adenoid cystic carcinoma	GPathogenic
Select item 495136	t(8;9)(q13.1;p22.3)	MYBL1, NFIB	Translocation	Adenoid cystic carcinoma	GPathogenic
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	LOC130001767, LOC130001768 +1006 more	Copy number gain	See cases	GPathogenic
Select item 60415	GRCh38/hg38 9p24.3-22.3(chr9:111216-14650762)x1	AK3, BRD10 +270 more	Copy number loss	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	CDKN2B, CDKN2B-AS1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	LOC130001680, LOC130001681 +1062 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	LOC124210611, LOC124210612 +1120 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	LOC130001484, LOC130001485 +883 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC130001854, LOC130001855 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153184	GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4	LOC130001517, LOC130001518 +484 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 154897	GRCh38/hg38 9p24.3-22.3(chr9:204090-15260600)x1	AK3, BRD10 +271 more	Copy number loss	See cases	GPathogenic
Select item 150819	GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3	ACER2, ADAMTSL1 +458 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001585, LOC130001586 +984 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	LOC130001507, LOC130001508 +899 more	Copy number gain	See cases	GPathogenic
Select item 150116	GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3	ACER2, ACO1 +582 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	LOC130001746, LOC130001747 +980 more	Copy number gain	See cases	GPathogenic
Select item 148598	GRCh38/hg38 9p24.3-23(chr9:204104-14182668)x1	AK3, BRD10 +256 more	Copy number loss	See cases	GPathogenic
Select item 146394	GRCh38/hg38 9p24.3-22.1(chr9:204104-18882281)x1	SNORD137, SPATA6L +303 more	Copy number loss	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ACER2, ACO1 +899 more	Copy number gain	See cases	GPathogenic
Select item 146719	GRCh38/hg38 9p24.3-22.2(chr9:204193-16897580)x1	SMARCA2, SNAPC3 +290 more	Copy number loss	See cases	GPathogenic
Select item 144343	GRCh38/hg38 9p24.3-22.2(chr9:204193-18073359)x1	LOC130001522, LOC130001523 +297 more	Copy number loss	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59839	GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3	ACER2, ACO1 +539 more	Copy number gain	See cases	GPathogenic
Select item 59836	GRCh38/hg38 9p24.3-21.3(chr9:204193-22086858)x3	LOC130001520, LOC130001521 +410 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	SPATA31F3, SPATA31G1 +898 more	Copy number gain	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ANKRD18B, APTX +899 more	Copy number gain	See cases	GPathogenic
Select item 147703	GRCh38/hg38 9p24.3-22.3(chr9:214367-16307944)x1	LOC130001455, LOC130001456 +280 more	Copy number loss	See cases	GPathogenic
Select item 146356	GRCh38/hg38 9p24.3-22.1(chr9:220253-18708805)x1	LOC105375972, LOC105375976 +295 more	Copy number loss	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	ACER2, ACO1 +894 more	Copy number gain	See cases	GPathogenic
Select item 59064	GRCh38/hg38 9p24.3-22.2(chr9:220253-18073359)x1	ADAMTSL1, AK3 +292 more	Copy number loss	See cases	GPathogenic
Select item 144555	GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3	SLC1A1, SLC24A2 +461 more	Copy number gain	See cases	GPathogenic
Select item 152943	GRCh38/hg38 9p24.3-22.3(chr9:322690-16401656)x1	AK3, BRD10 +273 more	Copy number loss	See cases	GPathogenic
Select item 149484	GRCh38/hg38 9p24.3-21.3(chr9:459131-24207894)x3	CDKN2B, CDKN2B-AS1 +412 more	Copy number gain	See cases	GPathogenic
Select item 147501	GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3	LOC126860594, LOC126860595 +355 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	ACER2, ACO1 +586 more	Copy number gain	See cases	GPathogenic
Select item 59878	GRCh38/hg38 9p23-21.1(chr9:9543538-30266463)x3	ACER2, ADAMTSL1 +243 more	Copy number gain	See cases	GPathogenic
Select item 57009	GRCh38/hg38 9p23-22.2(chr9:9661633-18034356)x1	ADAMTSL1, BNC2 +67 more	Copy number loss	See cases	GPathogenic
Select item 57336	GRCh38/hg38 9p23-22.2(chr9:11086096-17636671)x1	BNC2, BNC2-AS1 +59 more	Copy number loss	See cases	GPathogenic
Select item 59101	GRCh38/hg38 9p23-22.2(chr9:11818291-17963882)x1	ADAMTSL1, BNC2 +61 more	Copy number loss	See cases	GPathogenic
Select item 562127	GRCh38/hg38 9p23-22.3(chr9:13974416-14286260)x1	LOC124225049, NFIB	Copy number loss	Dolichocephaly +1 more	GPathogenic
Select item 2659074	NM_001190737.2(NFIB):c.*189A>T	NFIB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1325544	NM_001190737.2(NFIB):c.*98G>C	NFIB (E305Q +11 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Macrocephaly, acquired, with impaired intellectual development	GUncertain significance
Select item 3036950	NM_001190737.2(NFIB):c.*61C>T	NFIB (T493M)	Single nucleotide variant (3 prime UTR variant +3 more)	NFIB-related disorder	GLikely benign
Select item 562125	GRCh38/hg38 9p23-22.3(chr9:14098660-14324148)x1	LOC124225049, LOC124225050 +3 more	Copy number loss	Intellectual disability +1 more	GPathogenic
Select item 562126	GRCh38/hg38 9p23-22.3(chr9:14102176-14386039)x1	LOC124225049, LOC124225050 +4 more	Copy number loss	Relative macrocephaly +1 more	GPathogenic
Select item 3065166	NM_001190737.2(NFIB):c.1465C>T (p.Gln489Ter)	NFIB (Q237* +6 more)	Single nucleotide variant (nonsense +1 more)	Macrocephaly, acquired, with impaired intellectual development	GLikely pathogenic
Select item 2464913	NM_001190737.2(NFIB):c.1448C>A (p.Ser483Tyr)	NFIB (S413Y +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2631180	NM_001190737.2(NFIB):c.1423G>A (p.Val475Met)	NFIB (V223M +6 more)	Single nucleotide variant (missense variant +1 more)	NFIB-related disorder	GUncertain significance
Select item 3197527	NM_001190737.2(NFIB):c.1390A>G (p.Thr464Ala)	NFIB (T469A +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2406709	NM_001190737.2(NFIB):c.1345A>C (p.Ser449Arg)	NFIB (S445R +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 633574	NM_001190737.2(NFIB):c.1330C>T (p.Arg444Ter)	NFIB (R192* +5 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3254580	NM_001190737.2(NFIB):c.1306C>A (p.Pro436Thr)	NFIB (P184T +5 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly, acquired, with impaired intellectual development	GUncertain significance
Select item 3054725	NM_001190737.2(NFIB):c.1292C>G (p.Thr431Ser)	NFIB (T179S +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3197517	NM_001190737.2(NFIB):c.1279C>T (p.Pro427Ser)	NFIB (P175S +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2499087	NM_001190737.2(NFIB):c.1264G>C (p.Val422Leu)	NFIB (V170L +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3344465	NM_001190737.2(NFIB):c.1259G>A (p.Gly420Asp)	NFIB (G168D +5 more)	Single nucleotide variant (missense variant +1 more)	NFIB-related disorder	GUncertain significance
Select item 1341733	NM_001190737.2(NFIB):c.1217A>G (p.Tyr406Cys)	NFIB (Y154C +13 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly, acquired, with impaired intellectual development	GUncertain significance
Select item 2286837	NM_001190737.2(NFIB):c.1205A>G (p.Tyr402Cys)	NFIB (Y323C +13 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2500495	NM_001190737.2(NFIB):c.1183C>G (p.Pro395Ala)	NFIB (P143A +13 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 930874	NM_001190737.2(NFIB):c.1147T>C (p.Ser383Pro)	NFIB (S304P +13 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly, acquired, with impaired intellectual development	GUncertain significance
Select item 2673168	NM_001190737.2(NFIB):c.1137G>A (p.Ser379=)	NFIB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1333811	NM_001190737.2(NFIB):c.1136C>G (p.Ser379Trp)	NFIB (S127W +13 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly, acquired, with impaired intellectual development	GUncertain significance
Select item 735143	NM_001190737.2(NFIB):c.1131C>T (p.Ala377=)	NFIB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1305543	NM_001190737.2(NFIB):c.1121T>C (p.Leu374Pro)	NFIB (L122P +13 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2501110	NM_001190737.2(NFIB):c.1118T>G (p.Ile373Ser)	NFIB (I121S +13 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3197510	NM_001190737.2(NFIB):c.1087C>T (p.Pro363Ser)	NFIB (P288S +13 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 560029	NM_001190737.2(NFIB):c.1063_1076del (p.Ile355fs)	NFIB (I103fs +13 more)	Deletion (frameshift variant +1 more)	Macrocephaly +1 more	GPathogenic
Select item 1710235	NM_001190737.2(NFIB):c.1073del (p.Arg358fs)	NFIB (R106fs +13 more)	Deletion (frameshift variant +1 more)	Macrocephaly, acquired, with impaired intellectual development	GPathogenic
Select item 560030	NM_001190737.2(NFIB):c.1067C>T (p.Ser356Leu)	NFIB (S356L +13 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly +1 more	GUncertain significance
Select item 795902	NM_001190737.2(NFIB):c.1062C>T (p.Val354=)	NFIB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3197505	NM_001190737.2(NFIB):c.1061-1G>C	NFIB	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2575555	NM_001190737.2(NFIB):c.1057_1059del (p.Ser353del)	NFIB (S101del +9 more)	Deletion (inframe_deletion +2 more)	not provided	GUncertain significance
Select item 1308112	NM_001190737.2(NFIB):c.1031A>G (p.His344Arg)	NFIB (H165R +11 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2369067	NM_001190737.2(NFIB):c.1026C>G (p.His342Gln)	NFIB (H338Q +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3344764	NM_001190737.2(NFIB):c.1006C>G (p.Leu336Val)	NFIB (L157V +11 more)	Single nucleotide variant (missense variant +1 more)	NFIB-related disorder	GUncertain significance
Select item 2659075	NM_001190737.2(NFIB):c.989A>G (p.Gln330Arg)	NFIB (Q151R +11 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2434346	NM_001190737.2(NFIB):c.955C>G (p.Pro319Ala)	NFIB (P140A +11 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly, acquired, with impaired intellectual development	GUncertain significance
Select item 2366599	NM_001190737.2(NFIB):c.955C>A (p.Pro319Thr)	NFIB (P140T +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1709684	NM_001190737.2(NFIB):c.951del (p.Lys318fs)	NFIB (K139fs +11 more)	Deletion (frameshift variant +1 more)	Macrocephaly, acquired, with impaired intellectual development	GLikely pathogenic
Select item 3025821	NM_001190737.2(NFIB):c.926A>T (p.Asp309Val)	NFIB (D130V +11 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1299138	NM_001190737.2(NFIB):c.926-4G>A	NFIB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1331172	NM_001190737.2(NFIB):c.913G>C (p.Glu305Gln)	NFIB (E126Q +11 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 989245	NM_001190737.2(NFIB):c.901C>T (p.Arg301Ter)	NFIB (R122* +11 more)	Single nucleotide variant (nonsense +1 more)	Macrocephaly, acquired, with impaired intellectual development	GLikely pathogenic
Select item 2659076	NM_001190737.2(NFIB):c.899G>A (p.Ser300Asn)	NFIB (S121N +11 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3197573	NM_001190737.2(NFIB):c.877C>G (p.Pro293Ala)	NFIB (P275A +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3376240	NM_001190737.2(NFIB):c.870C>G (p.Tyr290Ter)	NFIB (Y111* +11 more)	Single nucleotide variant (nonsense +1 more)	Macrocephaly, acquired, with impaired intellectual development	GPathogenic
Select item 1800541	NM_001190737.2(NFIB):c.870C>A (p.Tyr290Ter)	NFIB (Y111* +11 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3343832	NM_001190737.2(NFIB):c.862G>T (p.Asp288Tyr)	NFIB (D109Y +11 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2499088	NM_001190737.2(NFIB):c.844G>T (p.Glu282Ter)	NFIB (E103* +11 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic

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