ClinVar for Gene (Select 4781) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377174	NM_001190737.2(NFIB):c.816del (p.Thr274fs)	NFIB (T195fs +11 more)	Deletion (frameshift variant +1 more)	Macrocephaly, acquired, with impaired intellectual development	GPathogenic
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 3373028	NM_001190737.2(NFIB):c.40C>T (p.His14Tyr)	NFIB (H10Y +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3371786	NM_001190737.2(NFIB):c.-2T>G	NFIB	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3370244	NM_001190737.2(NFIB):c.804C>A (p.Ser268Arg)	NFIB (S16R +11 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3368725	NM_001190737.2(NFIB):c.32A>G (p.Asp11Gly)	NFIB (D11G +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3364407	NM_001190737.2(NFIB):c.743C>T (p.Pro248Leu)	NFIB (P169L +10 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3361878	NM_001190737.2(NFIB):c.293G>T (p.Gly98Val)	NFIB (G120V +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360933	NM_001190737.2(NFIB):c.650T>G (p.Val217Gly)	NFIB (V138G +10 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3360784	NM_001190737.2(NFIB):c.1000C>T (p.Pro334Ser)	NFIB (P155S +11 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360525	NM_001190737.2(NFIB):c.577G>T (p.Gly193Ter)	NFIB (G114* +9 more)	Single nucleotide variant (nonsense +3 more)	not provided	GLikely pathogenic
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 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 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 3342513	NM_001190737.2(NFIB):c.330C>A (p.Asp110Glu)	NFIB (D101E +6 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3341659	NM_001369458.1(NFIB):c.38C>T (p.Ser13Leu)	NFIB (S13L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3338460	GRCh37/hg19 9p23(chr9:14088188-14102587)x1	NFIB	Copy number loss	Macrocephaly, acquired, with impaired intellectual development	GLikely pathogenic
Select item 3338458	GRCh37/hg19 9p23-22.3(chr9:13927869-15424029)x1	CER1, FREM1 +4 more	Copy number loss	Macrocephaly, acquired, with impaired intellectual development	GLikely pathogenic
Select item 3299524	NM_001190737.2(NFIB):c.185T>A (p.Leu62His)	NFIB (L14H +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3251271	NM_001190737.2(NFIB):c.806+3A>G	NFIB	Single nucleotide variant (intron variant)	not specified	GUncertain significance
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 3197567	NM_001190737.2(NFIB):c.829A>G (p.Ile277Val)	NFIB (I272V +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3197559	NM_001190737.2(NFIB):c.787C>G (p.Leu263Val)	NFIB (L259V +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3197552	NM_001190737.2(NFIB):c.721A>G (p.Ile241Val)	NFIB (I162V +10 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3197541	NM_001190737.2(NFIB):c.554A>G (p.Gln185Arg)	NFIB (Q207R +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3197534	NM_001190737.2(NFIB):c.286G>A (p.Val96Met)	NFIB (V122M +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 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 3197505	NM_001190737.2(NFIB):c.1061-1G>C	NFIB	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 3068951	NM_001190737.2(NFIB):c.616+4A>G	NFIB	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3067743	NM_001190737.2(NFIB):c.377_378del (p.Lys126fs)	NFIB (K117fs +6 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
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 3063080	GRCh37/hg19 9p24.3-22.3(chr9:203861-15508556)x1	AK3, BRD10 +47 more	Copy number loss	not specified	GPathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3063070	GRCh37/hg19 9p24.3-22.1(chr9:203861-19302836)x1	ADAMTSL1, AK3 +57 more	Copy number loss	not specified	GPathogenic
Select item 3054849	NM_001190737.2(NFIB):c.663A>G (p.Ser221=)	NFIB	Single nucleotide variant (synonymous variant +2 more)	NFIB-related disorder	GLikely benign
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 3053530	NM_001190737.2(NFIB):c.196C>G (p.Pro66Ala)	NFIB (P18A +6 more)	Single nucleotide variant (missense variant)	NFIB-related disorder	GBenign
Select item 3037612	NM_001190737.2(NFIB):c.327C>T (p.Pro109=)	NFIB	Single nucleotide variant (synonymous variant)	NFIB-related disorder	GLikely benign
Select item 3037360	NM_001190738.2(NFIB):c.70A>T (p.Ile24Phe)	NFIB (I24F)	Single nucleotide variant (missense variant +1 more)	NFIB-related disorder	GBenign
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 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 2692430	NM_001190737.2(NFIB):c.31-12T>A	NFIB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2692348	NM_001190737.2(NFIB):c.26dup (p.Gln10fs)	NFIB (Q10fs)	Duplication (frameshift variant +1 more)	Macrocephaly, acquired, with impaired intellectual development	GPathogenic
Select item 2685341	GRCh37/hg19 9p22.3(chr9:14322255-14470759)x1	NFIB	Copy number loss	not provided	GUncertain significance
Select item 2685340	GRCh37/hg19 9p23-22.3(chr9:13036456-14661243)x1	MPDZ, NFIB +1 more	Copy number loss	not provided	GPathogenic
Select item 2685337	GRCh37/hg19 9p24.1-22.3(chr9:8595338-15622555)x1	CCDC171, CER1 +10 more	Copy number loss	not provided	GPathogenic
Select item 2684573	GRCh37/hg19 9p23-22.3(chr9:13844894-14657139)x3	NFIB, ZDHHC21	Copy number gain	not provided	GUncertain significance
Select item 2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	CREB3, STOML2 +188 more	Copy number gain	not provided	GPathogenic
Select item 2673169	NM_001369458.1(NFIB):c.97-91037dup	NFIB (K26*)	Duplication (nonsense +1 more)	not provided	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 2671611	Single allele	AK3, BNC2 +49 more	Deletion	not provided	GPathogenic
Select item 2659079	NM_001190738.2(NFIB):c.109-14444T>C	NFIB, NFIB-AS1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2659078	NM_001190737.2(NFIB):c.687G>A (p.Thr229=)	NFIB	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2659077	NM_001190737.2(NFIB):c.764C>T (p.Ser255Leu)	NFIB (S176L +11 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 2659074	NM_001190737.2(NFIB):c.*189A>T	NFIB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2636497	NM_001190738.2(NFIB):c.20C>G (p.Ser7Cys)	NFIB (S7C)	Single nucleotide variant (missense variant +1 more)	NFIB-related disorder	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 2630207	NM_001190737.2(NFIB):c.392A>G (p.Asp131Gly)	NFIB (D122G +6 more)	Single nucleotide variant (missense variant +1 more)	NFIB-related disorder	GUncertain significance
Select item 2627840	NM_001190737.2(NFIB):c.30+1G>A	NFIB	Single nucleotide variant (splice donor variant +1 more)	Neurodevelopmental disorder	GUncertain significance
Select item 2576943	NM_001190737.2(NFIB):c.364C>T (p.Arg122Ter)	NFIB (R113* +6 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2575955	NM_001190737.2(NFIB):c.495G>T (p.Gln165His)	NFIB (Q117H +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2575825	NM_001190737.2(NFIB):c.557A>G (p.Glu186Gly)	NFIB (E138G +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2573749	NM_001190737.2(NFIB):c.562+1G>A	NFIB	Single nucleotide variant (splice donor variant +1 more)	not provided	GUncertain significance
Select item 2573027	NM_001190737.2(NFIB):c.230T>G (p.Leu77Arg)	NFIB (L103R +6 more)	Single nucleotide variant (missense variant)	Macrocephaly, acquired, with impaired intellectual development	GUncertain significance
Select item 2511483	NM_001190737.2(NFIB):c.656A>G (p.Asn219Ser)	NFIB (N171S +10 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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 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 2499576	NM_001190737.2(NFIB):c.686-2A>G	NFIB	Single nucleotide variant (splice acceptor variant)	Macrocephaly, acquired, with impaired intellectual development	GPathogenic
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
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 2497948	NM_001190737.2(NFIB):c.201A>T (p.Glu67Asp)	NFIB (E19D +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2434348	NM_001190737.2(NFIB):c.550G>A (p.Val184Met)	NFIB (V136M +6 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly, acquired, with impaired intellectual development	GUncertain significance
Select item 2434347	NM_001190737.2(NFIB):c.30+9C>G	NFIB	Single nucleotide variant (intron variant)	Macrocephaly, acquired, with impaired intellectual development	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 2431492	NM_001190737.2(NFIB):c.661T>A (p.Ser221Thr)	NFIB (S142T +10 more)	Single nucleotide variant (missense variant +2 more)	Macrocephaly, acquired, with impaired intellectual development	GUncertain significance
Select item 2430344	NM_001190737.2(NFIB):c.389_399del (p.Leu130fs)	NFIB (L121fs +6 more)	Deletion (frameshift variant +1 more)	See cases	GLikely pathogenic
Select item 2429887	NM_001190737.2(NFIB):c.254G>T (p.Arg85Leu)	NFIB (R107L +6 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2429803	NM_001190737.2(NFIB):c.769G>C (p.Val257Leu)	NFIB (V178L +11 more)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	GLikely benign
Select item 2413110	NM_001190737.2(NFIB):c.2T>C (p.Met1Thr)	NFIB (M1T)	Single nucleotide variant (missense variant +2 more)	not provided	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 2394083	NM_001190737.2(NFIB):c.722T>C (p.Ile241Thr)	NFIB (I193T +10 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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 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 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 2230911	NM_001190737.2(NFIB):c.806+3A>C	NFIB	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2230844	NM_001190738.2(NFIB):c.1A>T (p.Met1Leu)	NFIB (M1L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1806204	NM_001190737.2(NFIB):c.799C>G (p.Pro267Ala)	NFIB (P15A +11 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly, acquired, with impaired intellectual development	GUncertain significance
Select item 1806041	NM_001190737.2(NFIB):c.340A>G (p.Lys114Glu)	NFIB (K105E +6 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly, acquired, with impaired intellectual development	GLikely pathogenic
Select item 1805840	NM_001190737.2(NFIB):c.86A>G (p.Tyr29Cys)	NFIB (Y20C +5 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly, acquired, with impaired intellectual development	GUncertain significance
Select item 1805131	NM_001190737.2(NFIB):c.93_94del (p.Trp31fs)	NFIB (W22fs +5 more)	Deletion (frameshift variant +1 more)	Macrocephaly, acquired, with impaired intellectual development	GPathogenic
Select item 1805027	NM_001190737.2(NFIB):c.328G>A (p.Asp110Asn)	NFIB (D101N +6 more)	Single nucleotide variant (missense variant)	Macrocephaly, acquired, with impaired intellectual development	GUncertain significance
Select item 1801407	NM_001369458.1(NFIB):c.96+33125_96+33183del	NFIB	Deletion (intron variant)	Schizophrenia	GUncertain significance
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

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