NFIX[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	ACP5, ANGPTL8 +434 more	Copy number loss	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 60073	GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1	ACP5, BEST2 +261 more	Copy number loss	See cases	GPathogenic
Select item 147761	GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1	LOC112543445, LOC112543446 +355 more	Copy number loss	See cases	GPathogenic
Select item 59112	GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3	LOC129391074, LOC130063625 +351 more	Copy number gain	See cases	GPathogenic
Select item 146686	GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1	ADGRE2, ADGRE3 +318 more	Copy number loss	See cases	GPathogenic
Select item 60270	GRCh38/hg38 19p13.13(chr19:12813597-13119698)x3	CALR, DAND5 +67 more	Copy number gain	See cases	GUncertain significance
Select item 59113	GRCh38/hg38 19p13.13(chr19:12850595-13290954)x3	CACNA1A, CALR +96 more	Copy number gain	See cases	GPathogenic
Select item 149139	GRCh38/hg38 19p13.13(chr19:12974394-13408586)x1	CACNA1A, DAND5 +58 more	Copy number loss	See cases	GPathogenic
Select item 147360	GRCh38/hg38 19p13.13(chr19:12978943-13236134)x3	CACNA1A, IER2 +50 more	Copy number gain	See cases	GUncertain significance
Select item 1309974	NM_001365902.3(NFIX):c.1A>G (p.Met1Val)	NFIX (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2490396	NM_001365902.3(NFIX):c.26A>G (p.Gln9Arg)	NFIX (Q9R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1679610	NM_001365902.3(NFIX):c.26A>C (p.Gln9Pro)	NFIX (Q9P)	Single nucleotide variant (missense variant)	Malan overgrowth syndrome +1 more	GUncertain significance
Select item 677498	NM_001365902.3(NFIX):c.27+113C>T	NFIX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272646	NM_001365902.3(NFIX):c.27+279GT[15]	NFIX	Microsatellite (intron variant)	not provided	GBenign
Select item 1248059	NM_001365902.3(NFIX):c.27+279GT[13]	NFIX	Microsatellite (intron variant)	not provided	GBenign
Select item 1227698	NM_001365902.3(NFIX):c.27+279GT[12]	NFIX	Microsatellite (intron variant)	not provided	GBenign
Select item 1283288	NM_001365902.3(NFIX):c.28-1383_28-1376del	NFIX	Deletion (intron variant)	not provided	GBenign
Select item 1203397	NM_001365902.3(NFIX):c.28-1376del	NFIX	Deletion (intron variant)	not provided	GLikely benign
Select item 673573	NM_001365902.3(NFIX):c.28-1334A>T	NFIX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 803527	NM_001365902.3(NFIX):c.28-891dup	NFIX	Duplication (intron variant)	Marshall-Smith syndrome +1 more	GBenign/Likely benign
Select item 1269465	NM_001365902.3(NFIX):c.28-891del	NFIX	Deletion (intron variant)	not provided	GBenign
Select item 1200820	NM_001365902.3(NFIX):c.28-802G>A	NFIX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677427	NM_001365902.3(NFIX):c.28-638T>C	NFIX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1675724	NM_001365902.3(NFIX):c.28-501G>C	NFIX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 623930	NM_001365902.3(NFIX):c.28-391G>C	NFIX	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 799402	NM_001365902.3(NFIX):c.28-376A>T	NFIX (M1L)	Single nucleotide variant (synonymous variant +4 more)	not provided	GLikely benign
Select item 2160790	NM_001365902.3(NFIX):c.28-370G>A	NFIX (A3T)	Single nucleotide variant (synonymous variant +3 more)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 2143615	NM_001365902.3(NFIX):c.28-368G>T	NFIX (R7L)	Single nucleotide variant (missense variant +3 more)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 1960118	NM_001365902.3(NFIX):c.28-355G>A	NFIX (G8R)	Single nucleotide variant (synonymous variant +3 more)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 1324806	NM_001365902.3(NFIX):c.28-354_28-347dup	NFIX (A15fs +1 more)	Duplication (frameshift variant +2 more)	not provided	GUncertain significance
Select item 2924846	NM_001365902.3(NFIX):c.28-340GT[6]	NFIX (W16fs)	Microsatellite (intron variant +1 more)	Marshall-Smith syndrome +1 more	GUncertain significance
Select item 1088466	NM_001365902.3(NFIX):c.28-327C>T	NFIX (T17M)	Single nucleotide variant (missense variant +1 more)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 2041569	NM_001365902.3(NFIX):c.28-326G>A	NFIX	Single nucleotide variant (synonymous variant +1 more)	Malan overgrowth syndrome +1 more	GBenign
Select item 2196598	NM_001365902.3(NFIX):c.28-322A>G	NFIX (T19A)	Single nucleotide variant (intron variant +1 more)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 2099149	NM_001365902.3(NFIX):c.28-16G>A	NFIX	Single nucleotide variant (synonymous variant +1 more)	Marshall-Smith syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2120793	NM_001365902.3(NFIX):c.28-15G>A	NFIX (A4T)	Single nucleotide variant (missense variant +1 more)	Malan overgrowth syndrome +1 more	GBenign
Select item 1334425	NM_001365902.3(NFIX):c.28-12_28-11insAGCC	NFIX (C5*)	Insertion (nonsense +1 more)	Malan overgrowth syndrome	GLikely pathogenic
Select item 1710192	NM_001365902.3(NFIX):c.31_47dup (p.Ile16fs)	NFIX (I15fs +4 more)	Duplication (frameshift variant +1 more)	Malan overgrowth syndrome	GPathogenic
Select item 1951207	NM_001365902.3(NFIX):c.33G>A (p.Glu11=)	NFIX	Single nucleotide variant (5 prime UTR variant +1 more)	Malan overgrowth syndrome +1 more	GLikely benign
Select item 2504679	NM_001365902.3(NFIX):c.34T>C (p.Phe12Leu)	NFIX (F11L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 661035	NM_001365902.3(NFIX):c.43_49dup (p.Glu17fs)	NFIX (E25fs +4 more)	Duplication (frameshift variant +1 more)	Malan overgrowth syndrome +2 more	GPathogenic
Select item 1206982	NM_001365902.3(NFIX):c.41C>G (p.Pro14Arg)	NFIX (P13R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1980223	NM_001365902.3(NFIX):c.42G>A (p.Pro14=)	NFIX	Single nucleotide variant (synonymous variant +1 more)	Malan overgrowth syndrome +1 more	GLikely benign
Select item 758814	NM_001365902.3(NFIX):c.48C>T (p.Ile16=)	NFIX	Single nucleotide variant (synonymous variant +1 more)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 1806657	NM_001365902.3(NFIX):c.49G>T (p.Glu17Ter)	NFIX (E16* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2953979	NM_001365902.3(NFIX):c.55C>T (p.Leu19=)	NFIX	Single nucleotide variant (synonymous variant +1 more)	Malan overgrowth syndrome +1 more	GLikely benign
Select item 842270	NM_001365902.3(NFIX):c.60_75dup (p.Phe26fs)	NFIX (F18fs +4 more)	Duplication (frameshift variant +1 more)	Malan overgrowth syndrome +1 more	GPathogenic
Select item 2933692	NM_001365902.3(NFIX):c.66C>T (p.His22=)	NFIX	Single nucleotide variant (synonymous variant +1 more)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 2001878	NM_001365902.3(NFIX):c.67G>C (p.Val23Leu)	NFIX (V23L +4 more)	Single nucleotide variant (missense variant +1 more)	Malan overgrowth syndrome +1 more	GUncertain significance
Select item 3029907	NM_001365902.3(NFIX):c.72C>T (p.Arg24=)	NFIX	Single nucleotide variant (synonymous variant +1 more)	NFIX-related condition	GLikely benign
Select item 431130	NM_001365902.3(NFIX):c.73del (p.Ala25fs)	NFIX (A25fs +4 more)	Deletion (frameshift variant +1 more)	Malan overgrowth syndrome	GPathogenic
Select item 932070	NM_001365902.3(NFIX):c.77del (p.Phe26fs)	NFIX (F25fs +4 more)	Deletion (frameshift variant +1 more)	Marshall-Smith syndrome	GPathogenic
Select item 871680	NM_001365902.3(NFIX):c.84C>A (p.Tyr28Ter)	NFIX (Y27* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2581524	NM_001365902.3(NFIX):c.87C>G (p.Thr29=)	NFIX	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3064924	NM_001365902.3(NFIX):c.88T>A (p.Trp30Arg)	NFIX (W22R +4 more)	Single nucleotide variant (missense variant +1 more)	Malan overgrowth syndrome	GLikely pathogenic
Select item 1802556	NM_001365902.3(NFIX):c.95del (p.Asn32fs)	NFIX (N24fs +4 more)	Deletion (frameshift variant +1 more)	Malan overgrowth syndrome	GLikely pathogenic
Select item 2236856	NM_001365902.3(NFIX):c.95A>G (p.Asn32Ser)	NFIX (N32S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1661369	NM_001365902.3(NFIX):c.105G>A (p.Ala35=)	NFIX	Single nucleotide variant (synonymous variant +1 more)	Malan overgrowth syndrome +1 more	GLikely benign
Select item 976670	NM_001365902.3(NFIX):c.113G>A (p.Arg38His)	NFIX (R30H +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 843697	NM_001365902.3(NFIX):c.113G>T (p.Arg38Leu)	NFIX (R30L +4 more)	Single nucleotide variant (missense variant +1 more)	Malan overgrowth syndrome +1 more	GUncertain significance
Select item 546547	NM_001365902.3(NFIX):c.113_114delinsTT (p.Arg38Leu)	NFIX (R30L +4 more)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 707679	NM_001365902.3(NFIX):c.117G>A (p.Lys39=)	NFIX	Single nucleotide variant (synonymous variant +1 more)	NFIX-related condition +2 more	GLikely benign
Select item 1071849	NM_001365902.3(NFIX):c.120C>G (p.Tyr40Ter)	NFIX (Y32* +4 more)	Single nucleotide variant (nonsense +1 more)	Marshall-Smith syndrome +1 more	GPathogenic
Select item 2501544	NM_001365902.3(NFIX):c.124A>G (p.Lys42Glu)	NFIX (K34E +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1985526	NM_001365902.3(NFIX):c.129G>A (p.Lys43=)	NFIX	Single nucleotide variant (synonymous variant +1 more)	Malan overgrowth syndrome +1 more	GLikely benign
Select item 1298742	NM_001365902.3(NFIX):c.130C>G (p.His44Asp)	NFIX (H36D +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 620018	NM_001365902.3(NFIX):c.136A>T (p.Lys46Ter)	NFIX (K46* +4 more)	Single nucleotide variant (nonsense +1 more)	Marshall-Smith syndrome +1 more	GPathogenic
Select item 753194	NM_001365902.3(NFIX):c.138G>A (p.Lys46=)	NFIX	Single nucleotide variant (synonymous variant +1 more)	Malan overgrowth syndrome +1 more	GLikely benign
Select item 2931508	NM_001365902.3(NFIX):c.141G>A (p.Arg47=)	NFIX	Single nucleotide variant (synonymous variant +1 more)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 2574720	NM_001365902.3(NFIX):c.142A>G (p.Met48Val)	NFIX (M1V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 653227	NM_001365902.3(NFIX):c.143T>C (p.Met48Thr)	NFIX (M1T +5 more)	Single nucleotide variant (missense variant +1 more)	Marshall-Smith syndrome +1 more	GUncertain significance
Select item 452926	NM_001365902.3(NFIX):c.143T>A (p.Met48Lys)	NFIX (M48K +5 more)	Single nucleotide variant (missense variant +1 more)	Malan overgrowth syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1708174	NM_001365902.3(NFIX):c.146_153dup (p.Glu52fs)	NFIX (E44fs +5 more)	Duplication (frameshift variant)	Malan overgrowth syndrome	GPathogenic
Select item 1453603	NM_001365902.3(NFIX):c.149_155dup (p.Glu53fs)	NFIX (E69fs +5 more)	Duplication (frameshift variant)	Malan overgrowth syndrome +1 more	GPathogenic
Select item 2630512	NM_001365902.3(NFIX):c.146C>T (p.Ser49Leu)	NFIX (S2L +5 more)	Single nucleotide variant (missense variant)	NFIX-related condition	GUncertain significance
Select item 1098319	NM_001365902.3(NFIX):c.148A>T (p.Lys50Ter)	NFIX (K3* +5 more)	Single nucleotide variant (nonsense)	See cases	GPathogenic
Select item 493246	NM_001365902.3(NFIX):c.154G>T (p.Glu52Ter)	NFIX (E52* +5 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 2475234	NM_001365902.3(NFIX):c.161G>A (p.Arg54Gln)	NFIX (R53Q +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1685979	NM_001365902.3(NFIX):c.163del (p.Ala55fs)	NFIX (A47fs +5 more)	Deletion (frameshift variant)	Marshall-Smith syndrome	GPathogenic
Select item 1803372	NM_001365902.3(NFIX):c.166G>T (p.Val56Leu)	NFIX (V48L +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1218479	NM_001365902.3(NFIX):c.175G>A (p.Glu59Lys)	NFIX (E12K +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 817661	NM_001365902.3(NFIX):c.179dup (p.Leu61fs)	NFIX (L61fs +5 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1338333	NM_001365902.3(NFIX):c.179del (p.Leu60fs)	NFIX (L13fs +5 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 36966	NM_001365902.3(NFIX):c.179T>C (p.Leu60Pro)	NFIX (L60P +5 more)	Single nucleotide variant (missense variant)	Malan overgrowth syndrome	GPathogenic
Select item 389919	NM_001365902.3(NFIX):c.183G>A (p.Leu61=)	NFIX	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 388099	NM_001365902.3(NFIX):c.186C>G (p.Gly62=)	NFIX	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 2092634	NM_001365902.3(NFIX):c.187G>A (p.Glu63Lys)	NFIX (E16K +5 more)	Single nucleotide variant (missense variant)	Marshall-Smith syndrome +1 more	GLikely pathogenic
Select item 976042	NM_001365902.3(NFIX):c.187G>T (p.Glu63Ter)	NFIX (E16* +5 more)	Single nucleotide variant (nonsense)	Malan overgrowth syndrome	GPathogenic
Select item 2430155	NM_001365902.3(NFIX):c.195dup (p.Glu66fs)	NFIX (E19fs +5 more)	Duplication (frameshift variant)	Malan overgrowth syndrome	GLikely pathogenic
Select item 982716	NM_001365902.3(NFIX):c.220del (p.Arg74fs)	NFIX (R27fs +5 more)	Deletion (frameshift variant)	Malan overgrowth syndrome +1 more	GPathogenic/Likely pathogenic
Select item 522053	NM_001365902.3(NFIX):c.220C>G (p.Arg74Gly)	NFIX (R74G +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 798874	NM_001365902.3(NFIX):c.222G>A (p.Arg74=)	NFIX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1694456	NM_001365902.3(NFIX):c.226_242del (p.Leu76fs)	NFIX (L29fs +5 more)	Deletion (frameshift variant)	Malan overgrowth syndrome +1 more	GPathogenic
Select item 2951601	NM_001365902.3(NFIX):c.230C>G (p.Ala77Gly)	NFIX (A30G +5 more)	Single nucleotide variant (missense variant)	Marshall-Smith syndrome +1 more	GUncertain significance
Select item 2045954	NM_001365902.3(NFIX):c.231C>T (p.Ala77=)	NFIX	Single nucleotide variant (synonymous variant)	Malan overgrowth syndrome +1 more	GLikely benign
Select item 639180	NM_001365902.3(NFIX):c.232A>T (p.Lys78Ter)	NFIX (K70* +5 more)	Single nucleotide variant (nonsense)	Marshall-Smith syndrome +1 more	GPathogenic
Select item 2018700	NM_001365902.3(NFIX):c.235C>T (p.Leu79=)	NFIX	Single nucleotide variant (synonymous variant)	Malan overgrowth syndrome +1 more	GLikely benign

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