ClinVar for MedGen (Select 75551) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248491	NC_000019.9:g.(?_13135448)_(13136386_?)dup	NFIX	Duplication	Marshall-Smith syndrome +1 more	GUncertain significance
Select item 3235217	NM_001365902.3(NFIX):c.484T>G (p.Cys162Gly)	NFIX (C115G +5 more)	Single nucleotide variant (missense variant)	Marshall-Smith syndrome	GUncertain significance
Select item 3064035	NM_001365902.3(NFIX):c.1079-1G>A	NFIX	Single nucleotide variant (splice acceptor variant)	Marshall-Smith syndrome +1 more	Gnot provided
Select item 2953979	NM_001365902.3(NFIX):c.55C>T (p.Leu19=)	NFIX	Single nucleotide variant (synonymous variant +1 more)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 2953270	NM_001365902.3(NFIX):c.275_288del (p.Val92fs)	NFIX (V100fs +5 more)	Deletion (frameshift variant)	Marshall-Smith syndrome +1 more	GPathogenic
Select item 2952346	NM_001365902.3(NFIX):c.1078+9T>A	NFIX	Single nucleotide variant (intron variant)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 2951643	NM_001365902.3(NFIX):c.942C>T (p.Asn314=)	NFIX	Single nucleotide variant (synonymous variant)	Marshall-Smith syndrome +1 more	GBenign
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 2950277	NM_001365902.3(NFIX):c.769A>G (p.Asn257Asp)	NFIX (N249D +5 more)	Single nucleotide variant (missense variant)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 2950276	NM_001365902.3(NFIX):c.697+17T>C	NFIX	Single nucleotide variant (intron variant)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 2950009	NM_001365902.3(NFIX):c.731C>G (p.Ser244Cys)	NFIX (S244C +5 more)	Single nucleotide variant (missense variant)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 2948877	NM_001365902.3(NFIX):c.515_518del (p.Ile172fs)	NFIX (I172fs +5 more)	Deletion (frameshift variant)	Malan overgrowth syndrome +1 more	GPathogenic
Select item 2947172	NM_001365902.3(NFIX):c.956-14C>T	NFIX	Single nucleotide variant (intron variant)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 2947036	NM_001365902.3(NFIX):c.1204G>T (p.Glu402Ter)	NFIX (E401* +6 more)	Single nucleotide variant (nonsense)	Marshall-Smith syndrome +1 more	GPathogenic
Select item 2946853	NM_001365902.3(NFIX):c.316_324del (p.Ser106_Pro108del)	NFIX	Deletion (inframe_deletion)	Marshall-Smith syndrome +1 more	GUncertain significance
Select item 2946405	NM_001365902.3(NFIX):c.398T>C (p.Met133Thr)	NFIX (M149T +5 more)	Single nucleotide variant (missense variant)	Marshall-Smith syndrome +1 more	GUncertain significance
Select item 2946402	NM_001365902.3(NFIX):c.791G>T (p.Arg264Leu)	NFIX (R217L +5 more)	Single nucleotide variant (missense variant)	Marshall-Smith syndrome +1 more	GUncertain significance
Select item 2946267	NM_001365902.3(NFIX):c.1066G>A (p.Gly356Arg)	NFIX (G309R +5 more)	Single nucleotide variant (missense variant +1 more)	Marshall-Smith syndrome +1 more	GUncertain significance
Select item 2946196	NM_001365902.3(NFIX):c.384G>A (p.Arg128=)	NFIX	Single nucleotide variant (synonymous variant)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 2946001	NM_001365902.3(NFIX):c.1494+18C>T	NFIX	Single nucleotide variant (intron variant)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 2945952	NM_001365902.3(NFIX):c.336C>T (p.Gly112=)	NFIX	Single nucleotide variant (synonymous variant)	Marshall-Smith syndrome +1 more	GBenign
Select item 2945942	NM_001365902.3(NFIX):c.818+9_818+16del	NFIX	Deletion (intron variant)	Marshall-Smith syndrome +1 more	GBenign
Select item 2945108	NM_001365902.3(NFIX):c.622+10C>T	NFIX	Single nucleotide variant (intron variant)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 2939211	NM_001365902.3(NFIX):c.764A>G (p.Asn255Ser)	NFIX (N247S +5 more)	Single nucleotide variant (missense variant)	Marshall-Smith syndrome +1 more	GUncertain significance
Select item 2938931	NM_001365902.3(NFIX):c.567A>G (p.Gly189=)	NFIX	Single nucleotide variant (synonymous variant)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 2938129	NM_001365902.3(NFIX):c.1160C>T (p.Pro387Leu)	NFIX (P386L +6 more)	Single nucleotide variant (missense variant)	Marshall-Smith syndrome +1 more	GUncertain significance
Select item 2937806	NM_001365902.3(NFIX):c.477C>G (p.Pro159=)	NFIX	Single nucleotide variant (synonymous variant)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 2937802	NM_001365902.3(NFIX):c.674C>A (p.Thr225Lys)	NFIX (T217K +5 more)	Single nucleotide variant (missense variant)	Marshall-Smith syndrome +1 more	GUncertain significance
Select item 2937716	NM_001365902.3(NFIX):c.1402+20G>A	NFIX	Single nucleotide variant (intron variant)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 2937494	NM_001365902.3(NFIX):c.623G>A (p.Gly208Glu)	NFIX (G161E +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2937290	NM_001365902.3(NFIX):c.876C>T (p.Asp292=)	NFIX	Single nucleotide variant (synonymous variant)	Marshall-Smith syndrome +2 more	GLikely benign
Select item 2936759	NM_001365902.3(NFIX):c.1495-10C>T	NFIX	Single nucleotide variant (intron variant)	Malan overgrowth syndrome +1 more	GLikely benign
Select item 2936722	NM_001365902.3(NFIX):c.1403-14C>T	NFIX	Single nucleotide variant (intron variant)	Malan overgrowth syndrome +1 more	GLikely benign
Select item 2936328	NM_001365902.3(NFIX):c.1078+13G>A	NFIX	Single nucleotide variant (intron variant)	Malan overgrowth syndrome +1 more	GLikely benign
Select item 2935629	NM_001365902.3(NFIX):c.1266C>T (p.Ser422=)	NFIX	Single nucleotide variant (synonymous variant +1 more)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 2935321	NM_001365902.3(NFIX):c.765C>T (p.Asn255=)	NFIX	Single nucleotide variant (synonymous variant)	Marshall-Smith syndrome +1 more	GLikely benign
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 2933241	NM_001365902.3(NFIX):c.1403-20C>T	NFIX	Single nucleotide variant (intron variant)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 2931953	NM_001365902.3(NFIX):c.742C>T (p.Leu248=)	NFIX	Single nucleotide variant (synonymous variant)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 2931830	NM_001365902.3(NFIX):c.582A>C (p.Ser194=)	NFIX	Single nucleotide variant (synonymous variant)	Marshall-Smith 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)	Malan overgrowth syndrome +1 more	GLikely benign
Select item 2931402	NM_001365902.3(NFIX):c.1249G>A (p.Gly417Arg)	NFIX (G370R +6 more)	Single nucleotide variant (missense variant)	Malan overgrowth syndrome +1 more	GUncertain significance
Select item 2930331	NM_001365902.3(NFIX):c.393G>C (p.Leu131=)	NFIX	Single nucleotide variant (synonymous variant)	Malan overgrowth syndrome +1 more	GLikely benign
Select item 2928649	NM_001365902.3(NFIX):c.956-4C>T	NFIX	Single nucleotide variant (intron variant)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 2928381	NM_001365902.3(NFIX):c.612A>G (p.Pro204=)	NFIX	Single nucleotide variant (synonymous variant)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 2927515	NM_001365902.3(NFIX):c.906A>C (p.Pro302=)	NFIX	Single nucleotide variant (synonymous variant)	Malan overgrowth syndrome +1 more	GLikely benign
Select item 2927207	NM_001365902.3(NFIX):c.559+8G>A	NFIX	Single nucleotide variant (intron variant)	Malan overgrowth syndrome +1 more	GLikely benign
Select item 2927195	NM_001365902.3(NFIX):c.955+15G>C	NFIX	Single nucleotide variant (intron variant)	Malan overgrowth syndrome +1 more	GLikely benign
Select item 2926966	NM_001365902.3(NFIX):c.459G>T (p.Ser153=)	NFIX	Single nucleotide variant (synonymous variant)	Malan overgrowth syndrome +1 more	GLikely benign
Select item 2924846	NM_001365902.3(NFIX):c.28-340GT[6]	NFIX (W16fs)	Microsatellite (frameshift variant +1 more)	Malan overgrowth syndrome +1 more	GUncertain significance
Select item 2924587	NM_001365902.3(NFIX):c.255C>T (p.Pro85=)	NFIX	Single nucleotide variant (synonymous variant)	Malan overgrowth syndrome +1 more	GLikely benign
Select item 2923310	NM_001365902.3(NFIX):c.622+4A>G	NFIX	Single nucleotide variant (intron variant)	Marshall-Smith syndrome +1 more	GUncertain significance
Select item 2923296	NM_001365902.3(NFIX):c.933G>A (p.Gly311=)	NFIX	Single nucleotide variant (synonymous variant)	Marshall-Smith syndrome +1 more	GBenign
Select item 2923051	NM_001365902.3(NFIX):c.675G>A (p.Thr225=)	NFIX	Single nucleotide variant (synonymous variant)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 2922702	NM_001365902.3(NFIX):c.622+5G>A	NFIX	Single nucleotide variant (intron variant)	Marshall-Smith syndrome +1 more	GUncertain significance
Select item 2922467	NM_001365902.3(NFIX):c.1199T>C (p.Leu400Pro)	NFIX (L392P +6 more)	Single nucleotide variant (missense variant)	Marshall-Smith syndrome +1 more	GUncertain significance
Select item 2921461	NM_001365902.3(NFIX):c.621C>T (p.Asn207=)	NFIX	Single nucleotide variant (synonymous variant)	Marshall-Smith syndrome +1 more	GUncertain significance
Select item 2683926	NM_001365902.3(NFIX):c.1459del (p.Asp487fs)	NFIX (D479fs +9 more)	Deletion (frameshift variant)	Marshall-Smith syndrome	GLikely pathogenic
Select item 2612223	NM_001365902.3(NFIX):c.359T>G (p.Leu120Arg)	NFIX (L120R +5 more)	Single nucleotide variant (missense variant)	Marshall-Smith syndrome +2 more	GUncertain significance
Select item 2584580	NM_001365902.3(NFIX):c.908C>T (p.Ala303Val)	NFIX (A256V +5 more)	Single nucleotide variant (missense variant)	Marshall-Smith syndrome +1 more	GUncertain significance
Select item 2503436	NM_001365902.3(NFIX):c.486C>A (p.Cys162Ter)	NFIX (C115* +5 more)	Single nucleotide variant (nonsense)	Marshall-Smith syndrome	GLikely pathogenic
Select item 2458769	NM_001365902.3(NFIX):c.889G>A (p.Gly297Arg)	NFIX (G250R +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2441761	NM_001365902.3(NFIX):c.1090dup (p.Ala364fs)	NFIX (A317fs +6 more)	Duplication (frameshift variant)	Marshall-Smith syndrome	GPathogenic
Select item 2431352	NM_001365902.3(NFIX):c.697+3_697+6del	NFIX	Deletion (splice donor variant)	Marshall-Smith syndrome +1 more	GUncertain significance
Select item 2424061	NC_000019.9:g.(?_13136156)_(13151380_?)del	NFIX	Deletion	Malan overgrowth syndrome +1 more	GLikely pathogenic
Select item 2423756	NC_000019.9:g.(?_13135448)_(13419362_?)dup	CACNA1A, IER2 +5 more	Duplication	Developmental and epileptic encephalopathy, 42 +3 more	GUncertain significance
Select item 2304868	NM_001365902.3(NFIX):c.599C>T (p.Ala200Val)	NFIX (A153V +5 more)	Single nucleotide variant (missense variant)	Marshall-Smith syndrome +2 more	GUncertain significance
Select item 2222264	NM_001365902.3(NFIX):c.956-4C>G	NFIX	Single nucleotide variant (intron variant)	Marshall-Smith syndrome +2 more	GLikely benign
Select item 2196598	NM_001365902.3(NFIX):c.28-322A>G	NFIX (T19A)	Single nucleotide variant (missense variant +1 more)	Marshall-Smith syndrome +1 more	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 2153185	NM_001365902.3(NFIX):c.288G>A (p.Thr96=)	NFIX	Single nucleotide variant (synonymous variant)	Malan overgrowth syndrome +1 more	GLikely benign
Select item 2152310	NM_001365902.3(NFIX):c.559G>T (p.Glu187Ter)	NFIX (E187* +5 more)	Single nucleotide variant (nonsense)	Malan overgrowth syndrome +1 more	GPathogenic
Select item 2149397	NM_001365902.3(NFIX):c.393G>A (p.Leu131=)	NFIX	Single nucleotide variant (synonymous variant)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 2147384	NM_001365902.3(NFIX):c.622+8C>G	NFIX	Single nucleotide variant (intron variant)	Marshall-Smith syndrome +1 more	GBenign
Select item 2146077	NM_001365902.3(NFIX):c.1267G>A (p.Gly423Ser)	NFIX (G431S +4 more)	Single nucleotide variant (missense variant +1 more)	Marshall-Smith syndrome +1 more	GUncertain significance
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 2138253	NM_001365902.3(NFIX):c.463C>T (p.Gln155Ter)	NFIX (Q155* +5 more)	Single nucleotide variant (nonsense)	Marshall-Smith syndrome +1 more	GPathogenic
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 2099149	NM_001365902.3(NFIX):c.28-16G>A	NFIX	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2092634	NM_001365902.3(NFIX):c.187G>A (p.Glu63Lys)	NFIX (E16K +5 more)	Single nucleotide variant (missense variant)	Malan overgrowth syndrome +1 more	GLikely pathogenic
Select item 2087836	NM_001365902.3(NFIX):c.1179C>T (p.His393=)	NFIX	Single nucleotide variant (synonymous variant)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 2076761	NM_001365902.3(NFIX):c.1495-15T>C	NFIX	Single nucleotide variant (intron variant)	Malan overgrowth syndrome +1 more	GLikely benign
Select item 2073619	NM_001365902.3(NFIX):c.1174CAC[5] (p.His395_Gly396insHis)	NFIX	Microsatellite (inframe_insertion)	Malan overgrowth syndrome +1 more	GLikely benign
Select item 2068475	NM_001365902.3(NFIX):c.1494+16C>G	NFIX	Single nucleotide variant (intron variant)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 2068227	NM_001365902.3(NFIX):c.687_688dup (p.Val230fs)	NFIX (V230fs +5 more)	Microsatellite (frameshift variant)	Marshall-Smith syndrome +1 more	GPathogenic
Select item 2065536	NM_001365902.3(NFIX):c.426G>A (p.Leu142=)	NFIX	Single nucleotide variant (synonymous variant)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 2064301	NM_001365902.3(NFIX):c.422C>G (p.Pro141Arg)	NFIX (P149R +5 more)	Single nucleotide variant (missense variant)	Marshall-Smith syndrome +1 more	GUncertain significance
Select item 2062538	NM_001365902.3(NFIX):c.360G>A (p.Leu120=)	NFIX	Single nucleotide variant (synonymous variant)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 2056864	NM_001365902.3(NFIX):c.564C>T (p.Ser188=)	NFIX	Single nucleotide variant (synonymous variant)	Marshall-Smith syndrome +1 more	GBenign
Select item 2051722	NM_001365902.3(NFIX):c.1305G>A (p.Pro435=)	NFIX	Single nucleotide variant (synonymous variant +1 more)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 2049285	NM_001365902.3(NFIX):c.559+18A>G	NFIX	Single nucleotide variant (intron variant)	Malan overgrowth syndrome +1 more	GLikely benign
Select item 2048099	NM_001365902.3(NFIX):c.1495-18T>C	NFIX	Single nucleotide variant (intron variant)	Malan overgrowth syndrome +1 more	GLikely benign
Select item 2045954	NM_001365902.3(NFIX):c.231C>T (p.Ala77=)	NFIX	Single nucleotide variant (synonymous variant)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 2042678	NM_001365902.3(NFIX):c.1263T>C (p.Gly421=)	NFIX	Single nucleotide variant (synonymous 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)	Marshall-Smith syndrome +1 more	GBenign
Select item 2029451	NM_001365902.3(NFIX):c.559+18A>T	NFIX	Single nucleotide variant (intron variant)	Malan overgrowth syndrome +1 more	GUncertain significance
Select item 2025997	NM_001365902.3(NFIX):c.846T>C (p.Asp282=)	NFIX	Single nucleotide variant (synonymous variant)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 2025950	NM_001365902.3(NFIX):c.1059del (p.Ala355fs)	NFIX (A371fs +5 more)	Deletion (frameshift variant +1 more)	Marshall-Smith syndrome +1 more	GPathogenic
Select item 2018700	NM_001365902.3(NFIX):c.235C>T (p.Leu79=)	NFIX	Single nucleotide variant (synonymous variant)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 2007846	NM_001365902.3(NFIX):c.819-3C>T	NFIX	Single nucleotide variant (intron variant)	Marshall-Smith syndrome +1 more	GUncertain significance

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