ClinVar for Gene (Select 4841) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233705	NM_007363.5(NONO):c.153A>G (p.Gln51=)	NONO	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3068943	NM_007363.5(NONO):c.332_348+280del	NONO	Deletion (splice donor variant)	Syndromic X-linked intellectual disability 34	GLikely pathogenic
Select item 3062482	GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79122848)	ABCB7, AMER1 +92 more	Copy number gain	not specified	GPathogenic
Select item 3062468	GRCh37/hg19 Xq13.1-22.1(chrX:68040342-100863081)	ABCB7, APOOL +121 more	Copy number gain	not specified	GPathogenic
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	TMEM31, TMEM35A +488 more	Copy number gain	not provided	GPathogenic
Select item 3024253	NM_007363.5(NONO):c.809G>T (p.Arg270Leu)	NONO (R181L +1 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 34	GUncertain significance
Select item 3020699	NM_007363.5(NONO):c.121A>G (p.Ile41Val)	NONO (I41V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2998224	NM_007363.5(NONO):c.1028+12C>T	NONO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990266	NM_007363.5(NONO):c.1070G>A (p.Arg357Gln)	NONO (R268Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986922	NM_007363.5(NONO):c.1172-14C>T	NONO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979497	NM_007363.5(NONO):c.543G>C (p.Val181=)	NONO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969608	NM_007363.5(NONO):c.943+18A>C	NONO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2901640	NM_007363.5(NONO):c.864C>T (p.Asn288=)	NONO	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2891328	NM_007363.5(NONO):c.1029-8C>T	NONO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2890581	NM_007363.5(NONO):c.944-3dup	NONO	Duplication (intron variant)	not provided	GBenign
Select item 2889287	NM_007363.5(NONO):c.642G>C (p.Leu214=)	NONO	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2880138	NM_007363.5(NONO):c.825T>C (p.Ile275=)	NONO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2862857	NM_007363.5(NONO):c.1056AGA[1] (p.Glu354del)	NONO (E354del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2832797	NM_007363.5(NONO):c.1402C>T (p.Arg468Cys)	NONO (R379C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2832251	NM_007363.5(NONO):c.1405C>T (p.Arg469Cys)	NONO (R469C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2799480	NM_007363.5(NONO):c.1281+20T>G	NONO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2788922	NM_007363.5(NONO):c.348+14G>C	NONO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2781235	NM_007363.5(NONO):c.1171+12G>A	NONO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2778360	NM_007363.5(NONO):c.944-3del	NONO	Deletion (intron variant)	not provided	GBenign
Select item 2744096	NM_007363.5(NONO):c.1282-9_1282-4del	NONO	Deletion (intron variant)	not provided	GUncertain significance
Select item 2738451	NM_007363.5(NONO):c.538A>G (p.Ile180Val)	NONO (I91V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2713465	NM_007363.5(NONO):c.909A>C (p.Ala303=)	NONO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2708365	NM_007363.5(NONO):c.1092G>A (p.Arg364=)	NONO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2705011	NM_007363.5(NONO):c.1366C>T (p.Arg456Cys)	NONO (R367C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682210	NM_007363.5(NONO):c.1176T>G (p.Ala392=)	NONO	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2663780	NC_000023.11:g.(?_66445907)_(78172208_?)dup	KIF4A, LOC130068402 +206 more	Duplication	Xq13q21 duplication	GPathogenic
Select item 2662723	NM_007363.5(NONO):c.860G>A (p.Arg287His)	NONO (R198H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662016	NM_007363.5(NONO):c.921C>G (p.His307Gln)	NONO (H218Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660870	NM_007363.5(NONO):c.1017A>G (p.Gln339=)	NONO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2635117	NM_007363.5(NONO):c.604C>T (p.Arg202Trp)	NONO (R113W +1 more)	Single nucleotide variant (missense variant)	NONO-related disorder	GUncertain significance
Select item 2628862	NM_007363.5(NONO):c.1351C>T (p.Pro451Ser)	NONO (P362S +1 more)	Single nucleotide variant (missense variant)	NONO-related disorder	GUncertain significance
Select item 2579951	NM_007363.5(NONO):c.1331T>C (p.Ile444Thr)	NONO (I355T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579382	NM_007363.5(NONO):c.1237C>T (p.Pro413Ser)	NONO (P324S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579113	GRCh37/hg19 Xq13.1(chrX:70373327-70524150)x2	GJB1, ITGB1BP2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2499270	NM_007363.5(NONO):c.75GCA[4] (p.Gln27_His28insGln)	NONO	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2479031	NM_007363.5(NONO):c.308T>C (p.Val103Ala)	NONO (V103A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2430653	NM_007363.5(NONO):c.626G>A (p.Ser209Asn)	NONO (S120N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2429456	NM_007363.5(NONO):c.348+2_348+15del	NONO	Deletion (splice donor variant)	Non-ossifying fibromas with pathologic factures and X-linked intellectual disability	GPathogenic
Select item 2429176	NM_007363.5(NONO):c.1131+5A>G	NONO	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2429175	NM_007363.5(NONO):c.276_288del (p.Lys92fs)	NONO (K3fs +1 more)	Deletion (frameshift variant)	Syndromic X-linked intellectual disability 34	GLikely pathogenic
Select item 2425299	NC_000023.10:g.(?_69748945)_(70644108_?)dup	CXorf65, FOXO4 +11 more	Duplication	FG syndrome 1	GUncertain significance
Select item 2422586	NC_000023.10:g.(?_70327586)_(70683896_?)dup	GJB1, IL2RG +6 more	Duplication	X-linked severe combined immunodeficiency	GUncertain significance
Select item 2416734	NM_007363.5(NONO):c.944-7T>G	NONO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2291577	NM_007363.5(NONO):c.806T>C (p.Met269Thr)	NONO (M269T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285319	NM_007363.5(NONO):c.1161G>A (p.Met387Ile)	NONO (M298I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2172826	NM_007363.5(NONO):c.447C>T (p.Ser149=)	NONO	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2123036	NM_007363.5(NONO):c.690A>G (p.Leu230=)	NONO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2115024	NM_007363.5(NONO):c.452C>A (p.Thr151Lys)	NONO (T151K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2111993	NM_007363.5(NONO):c.119C>G (p.Pro40Arg)	NONO (P40R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2059740	NM_007363.5(NONO):c.1391C>T (p.Ala464Val)	NONO (A375V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2028243	NM_007363.5(NONO):c.126T>C (p.Pro42=)	NONO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2021858	NM_007363.5(NONO):c.906T>G (p.Ala302=)	NONO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2018718	NM_007363.5(NONO):c.198A>G (p.Gly66=)	NONO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2001021	NM_007363.5(NONO):c.1341TGG[1] (p.Gly449del)	NONO (G360del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1969342	NM_007363.5(NONO):c.910C>T (p.Arg304Cys)	NONO (R304C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1960123	NM_007363.5(NONO):c.1263G>A (p.Pro421=)	NONO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1953710	NM_007363.5(NONO):c.1132-10dup	NONO	Duplication (intron variant)	not provided	GBenign
Select item 1942325	NM_007363.5(NONO):c.84_95del (p.His28_Gln31del)	NONO	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1941627	NM_007363.5(NONO):c.378A>G (p.Lys126=)	NONO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1917731	NM_007363.5(NONO):c.196G>A (p.Gly66Arg)	NONO (G66R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1914918	NM_007363.5(NONO):c.249C>T (p.Pro83=)	NONO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1912993	NM_007363.5(NONO):c.636C>T (p.Ser212=)	NONO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1909437	NM_007363.5(NONO):c.1210G>A (p.Ala404Thr)	NONO (A315T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1908795	NM_007363.5(NONO):c.1182C>T (p.Gly394=)	NONO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1805981	NM_007363.5(NONO):c.298_307del (p.Ala100fs)	NONO (A100fs +1 more)	Deletion (frameshift variant)	Syndromic X-linked intellectual disability 34	GPathogenic
Select item 1804718	NM_007363.5(NONO):c.1408C>T (p.Arg470Ter)	NONO (R381* +1 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 1723686	NM_007363.5(NONO):c.1307G>T (p.Gly436Val)	NONO (G347V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	MIR224, MIR424 +793 more	Copy number loss	See cases	GPathogenic
Select item 1705887	GRCh37/hg19 Xq13.1(chrX:70471276-70510697)x0	NONO, ZMYM3	Copy number loss	Global developmental delay	GUncertain significance
Select item 1704653	NM_007363.5(NONO):c.154+1GT[2]	NONO	Microsatellite (splice donor variant +1 more)	Syndromic X-linked intellectual disability 34	GPathogenic
Select item 1704517	NM_007363.5(NONO):c.116C>T (p.Pro39Leu)	NONO (P39L)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	CT55, CT83 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703584	GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	H2AB3, H2BW1 +502 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +822 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	SCML2, SEPTIN6 +822 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1700215	NM_007363.5(NONO):c.201_202dup (p.Lys68fs)	NONO (K68fs)	Microsatellite (frameshift variant +1 more)	Syndromic X-linked intellectual disability 34	GPathogenic
Select item 1700214	NM_007363.5(NONO):c.279_282del (p.Phe94fs)	NONO (F5fs +1 more)	Deletion (frameshift variant)	Syndromic X-linked intellectual disability 34	GPathogenic
Select item 1700145	NM_007363.5(NONO):c.710del (p.Pro237fs)	NONO (P148fs +1 more)	Deletion (frameshift variant)	Neurodevelopmental delay	GPathogenic
Select item 1695753	NM_007363.5(NONO):c.898A>T (p.Met300Leu)	NONO (M211L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1679353	NM_007363.5(NONO):c.1242del (p.Gly415fs)	NONO (G326fs +1 more)	Deletion (frameshift variant)	Syndromic X-linked intellectual disability 34	GLikely pathogenic
Select item 1659195	NM_007363.5(NONO):c.1282-19CT[2]	NONO	Microsatellite (intron variant)	not provided	GBenign
Select item 1652323	NM_007363.5(NONO):c.1029-15G>A	NONO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1643351	NM_007363.5(NONO):c.363A>G (p.Leu121=)	NONO	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1596235	NM_007363.5(NONO):c.154+11G>C	NONO	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1534781	NM_007363.5(NONO):c.1131+8T>C	NONO	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1526804	GRCh37/hg19 Xq11.1-21.1(chrX:61974855-79123671)	ABCB7, AMER1 +92 more	Copy number gain	not specified	GPathogenic
Select item 1526803	GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79123671)	ABCB7, AMER1 +92 more	Copy number gain	not specified	GPathogenic
Select item 1526229	NM_007363.5(NONO):c.315_318del (p.His106fs)	NONO (H106fs +1 more)	Microsatellite (frameshift variant)	Syndromic X-linked intellectual disability 34	GLikely pathogenic
Select item 1475228	NM_007363.5(NONO):c.75_86dup (p.Gln25_His28dup)	NONO	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 1341844	NM_007363.5(NONO):c.107C>T (p.Pro36Leu)	NONO (P36L)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability 34	GUncertain significance
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	CXorf51B, GAGE12H +821 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	ABCB7, ABCD1 +821 more	Copy number gain	not provided	GPathogenic
Select item 1340039	GRCh37/hg19 Xq13.1(chrX:69917640-70638292)x2	CXorf65, FOXO4 +11 more	Copy number gain	not provided	GUncertain significance
Select item 1326478	NM_007363.5(NONO):c.1028G>A (p.Arg343Lys)	NONO (R254K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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