NAXE[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 166

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic
Select item 149564	GRCh38/hg38 1q22-23.1(chr1:156256495-156681863)x1	BCAN, BCAN-AS1 +47 more	Copy number loss	See cases	GLikely pathogenic
Select item 1265056	NC_000001.11:g.156591622T>C	NAXE	Single nucleotide variant	not provided	GBenign
Select item 1287984	NC_000001.11:g.156591769CCGGG[5]	NAXE	Microsatellite	not provided	GBenign
Select item 1247761	NC_000001.11:g.156591768_156591769insTCGGGCCGGG	NAXE	Insertion	not provided	GBenign
Select item 1239516	NC_000001.11:g.156591769CCGGG[6]	NAXE	Microsatellite	not provided	GBenign
Select item 1479821	NM_144772.3(NAXE):c.1A>G (p.Met1Val)	NAXE (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1971772	NM_144772.3(NAXE):c.5C>T (p.Ser2Phe)	NAXE (S2F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1504310	NM_144772.3(NAXE):c.26_40del (p.Gly9_Leu13del)	NAXE	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1367726	NM_144772.3(NAXE):c.20T>C (p.Leu7Pro)	NAXE (L7P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2906960	NM_144772.3(NAXE):c.22C>T (p.Leu8=)	NAXE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2236231	NM_144772.3(NAXE):c.23T>C (p.Leu8Pro)	NAXE (L8P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2842656	NM_144772.3(NAXE):c.27C>T (p.Gly9=)	NAXE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1952981	NM_144772.3(NAXE):c.54_55delinsTC (p.Val19Leu)	NAXE (V19L)	Indel (missense variant)	not provided	GLikely benign
Select item 1167828	NM_144772.3(NAXE):c.55G>C (p.Val19Leu)	NAXE (V19L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1553801	NM_144772.3(NAXE):c.57G>A (p.Val19=)	NAXE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2178134	NM_144772.3(NAXE):c.59C>A (p.Pro20Gln)	NAXE (P20Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1439243	NM_144772.3(NAXE):c.61C>T (p.Arg21Trp)	NAXE (R21W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2090341	NM_144772.3(NAXE):c.71G>A (p.Ser24Asn)	NAXE (S24N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2637091	NM_144772.3(NAXE):c.73C>T (p.Gln25Ter)	NAXE (Q25*)	Single nucleotide variant (nonsense)	NAXE-related disorder	GLikely pathogenic
Select item 2171998	NM_144772.3(NAXE):c.108G>T (p.Trp36Cys)	NAXE (W36C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1716292	NM_144772.3(NAXE):c.113C>T (p.Pro38Leu)	NAXE (P38L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2506103	NM_144772.3(NAXE):c.128C>A (p.Ser43Ter)	NAXE (S43*)	Single nucleotide variant (nonsense)	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	GPathogenic
Select item 2143271	NM_144772.3(NAXE):c.164C>T (p.Thr55Met)	NAXE (T55M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1600546	NM_144772.3(NAXE):c.165G>A (p.Thr55=)	NAXE	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1466094	NM_144772.3(NAXE):c.166G>C (p.Val56Leu)	NAXE (V56L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1951593	NM_144772.3(NAXE):c.174G>A (p.Lys58=)	NAXE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 268116	NM_144772.3(NAXE):c.177C>A (p.Tyr59Ter)	NAXE (Y59*)	Single nucleotide variant (nonsense)	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy	GPathogenic
Select item 2700186	NM_144772.3(NAXE):c.182+11G>A	NAXE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1922473	NM_144772.3(NAXE):c.182+13C>G	NAXE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1612769	NM_144772.3(NAXE):c.182+14T>C	NAXE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3030803	NM_144772.3(NAXE):c.183-6C>T	NAXE	Single nucleotide variant (intron variant)	NAXE-related disorder	GLikely benign
Select item 2185633	NM_144772.3(NAXE):c.183-6C>G	NAXE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956017	NM_144772.3(NAXE):c.184C>T (p.Gln62Ter)	NAXE (Q62*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1424306	NM_144772.3(NAXE):c.191A>C (p.Glu64Ala)	NAXE (E64A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2117499	NM_144772.3(NAXE):c.192G>A (p.Glu64=)	NAXE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 268117	NM_144772.3(NAXE):c.196C>T (p.Gln66Ter)	NAXE (Q66*)	Single nucleotide variant (nonsense)	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy	GPathogenic
Select item 1471463	NM_144772.3(NAXE):c.202G>C (p.Val68Leu)	NAXE (V68L)	Single nucleotide variant (missense variant)	NAXE-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 755239	NM_144772.3(NAXE):c.213G>A (p.Glu71=)	NAXE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1320164	NM_144772.3(NAXE):c.229del (p.Gln77fs)	NAXE (Q77fs)	Deletion (frameshift variant)	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	GPathogenic
Select item 2874336	NM_144772.3(NAXE):c.234C>T (p.Phe78=)	NAXE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1983109	NM_144772.3(NAXE):c.237C>G (p.Ser79Arg)	NAXE (S79R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1469530	NM_144772.3(NAXE):c.241G>C (p.Asp81His)	NAXE (D81H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1603577	NM_144772.3(NAXE):c.246A>G (p.Gln82=)	NAXE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1193587	NM_144772.3(NAXE):c.257T>C (p.Leu86Pro)	NAXE (L86P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1252042	NM_144772.3(NAXE):c.262G>T (p.Gly88Trp)	NAXE (G88W)	Single nucleotide variant (missense variant)	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	GPathogenic
Select item 253145	NM_144772.3(NAXE):c.281C>A (p.Ala94Asp)	NAXE (A94D)	Single nucleotide variant (missense variant)	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy	GPathogenic
Select item 1382066	NM_144772.3(NAXE):c.291+6_291+7inv	NAXE	Inversion (intron variant)	not provided	GUncertain significance
Select item 1167829	NM_144772.3(NAXE):c.291+7G>A	NAXE	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1167010	NM_144772.3(NAXE):c.292-14G>A	NAXE	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2057884	NM_144772.3(NAXE):c.294A>G (p.Ala98=)	NAXE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879793	NM_144772.3(NAXE):c.303C>T (p.Pro101=)	NAXE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2019936	NM_144772.3(NAXE):c.306G>T (p.Thr102=)	NAXE	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1667911	NM_144772.3(NAXE):c.306G>A (p.Thr102=)	NAXE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1364908	NM_144772.3(NAXE):c.310A>C (p.Met104Leu)	NAXE (M104L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 634634	NM_144772.3(NAXE):c.326dup (p.Thr110fs)	NAXE (T110fs)	Duplication (frameshift variant)	NAXE-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1551047	NM_144772.3(NAXE):c.330T>C (p.Thr110=)	NAXE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1982331	NM_144772.3(NAXE):c.342C>T (p.Ile114=)	NAXE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 709011	NM_144772.3(NAXE):c.354G>C (p.Gly118=)	NAXE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2276180	NM_144772.3(NAXE):c.370G>T (p.Gly124Cys)	NAXE (G124C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1029165	NM_144772.3(NAXE):c.385C>G (p.Arg129Gly)	NAXE (R129G)	Single nucleotide variant (missense variant)	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	GUncertain significance
Select item 1969527	NM_144772.3(NAXE):c.402+7A>T	NAXE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1534168	NM_144772.3(NAXE):c.402+14G>A	NAXE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1485688	NM_144772.3(NAXE):c.412C>T (p.Pro138Ser)	NAXE (P138S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1029166	NM_144772.3(NAXE):c.430A>C (p.Lys144Gln)	NAXE (K144Q)	Single nucleotide variant (missense variant)	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	GUncertain significance
Select item 2969800	NM_144772.3(NAXE):c.460T>C (p.Leu154=)	NAXE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 423748	NM_144772.3(NAXE):c.468_478delinsATCCCTTTCCTTGGGG (p.Gln157fs)	NAXE (Q157fs)	Indel (frameshift variant)	not provided	GPathogenic
Select item 2430548	NM_144772.3(NAXE):c.473G>A (p.Cys158Tyr)	NAXE (C158Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1802682	NM_144772.3(NAXE):c.473G>C (p.Cys158Ser)	NAXE (C158S)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1346960	NM_144772.3(NAXE):c.484G>C (p.Asp162His)	NAXE (D162H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1507682	NM_144772.3(NAXE):c.487A>G (p.Ile163Val)	NAXE (I163V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1802976	NM_144772.3(NAXE):c.490C>A (p.Pro164Thr)	NAXE (P164T)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 268118	NM_144772.3(NAXE):c.516+1G>A	NAXE	Single nucleotide variant (splice donor variant)	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy	GPathogenic
Select item 1929135	NM_144772.3(NAXE):c.516+4G>C	NAXE	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 709689	NM_144772.3(NAXE):c.516+9C>A	NAXE	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1626719	NM_144772.3(NAXE):c.516+10T>C	NAXE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1967630	NM_144772.3(NAXE):c.516+14G>A	NAXE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1275164	NM_144772.3(NAXE):c.517-219T>C	NAXE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250183	NM_144772.3(NAXE):c.517-175A>G	NAXE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 57814	GRCh38/hg38 1q22-23.1(chr1:156593261-156653428)x3	BCAN, BCAN-AS1 +6 more	Copy number gain	See cases	GUncertain significance
Select item 1629074	NM_144772.3(NAXE):c.517-15C>T	NAXE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2076020	NM_144772.3(NAXE):c.524C>T (p.Thr175Met)	NAXE (T175M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2788336	NM_144772.3(NAXE):c.531T>C (p.Asp177=)	NAXE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1402306	NM_144772.3(NAXE):c.533A>G (p.Glu178Gly)	NAXE (E178G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1333657	NM_144772.3(NAXE):c.536dup (p.Tyr180fs)	NAXE (Y180fs)	Duplication (frameshift variant)	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	GPathogenic
Select item 1400501	NM_144772.3(NAXE):c.536T>C (p.Leu179Pro)	NAXE (L179P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2894988	NM_144772.3(NAXE):c.540T>G (p.Tyr180Ter)	NAXE (Y180*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1490458	NM_144772.3(NAXE):c.541G>A (p.Glu181Lys)	NAXE (E181K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1400878	NM_144772.3(NAXE):c.559A>G (p.Ile187Val)	NAXE (I187V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1483447	NM_144772.3(NAXE):c.560T>C (p.Ile187Thr)	NAXE (I187T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 873152	NM_144772.3(NAXE):c.565G>A (p.Gly189Ser)	NAXE (G189S)	Single nucleotide variant (missense variant)	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	GPathogenic
Select item 2067636	NM_144772.3(NAXE):c.582C>T (p.Gly194=)	NAXE	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3177706	NM_144772.3(NAXE):c.589C>T (p.Arg197Trp)	NAXE (R197W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1400052	NM_144772.3(NAXE):c.590G>A (p.Arg197Gln)	NAXE (R197Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 747124	NM_144772.3(NAXE):c.597G>A (p.Pro199=)	NAXE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1320163	NM_144772.3(NAXE):c.611T>C (p.Leu204Pro)	NAXE (L204P)	Single nucleotide variant (missense variant)	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	GLikely pathogenic
Select item 1572586	NM_144772.3(NAXE):c.627A>G (p.Gly209=)	NAXE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1387520	NM_144772.3(NAXE):c.641T>C (p.Ile214Thr)	NAXE (I214T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2887210	NM_144772.3(NAXE):c.645C>T (p.Ala215=)	NAXE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

<< First< Prev

Page of 2