ClinVar for Gene (Select 128240) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3063199	GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1	ADAM15, ADAR +85 more	Copy number loss	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 3030803	NM_144772.3(NAXE):c.183-6C>T	NAXE	Single nucleotide variant (intron variant)	NAXE-related disorder	GLikely benign
Select item 3003683	NM_144772.3(NAXE):c.862C>T (p.Gln288Ter)	NAXE (Q288*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3001761	NM_144772.3(NAXE):c.807G>A (p.Lys269=)	NAXE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969800	NM_144772.3(NAXE):c.460T>C (p.Leu154=)	NAXE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968478	NM_144772.3(NAXE):c.665-19A>G	NAXE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2956017	NM_144772.3(NAXE):c.184C>T (p.Gln62Ter)	NAXE (Q62*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2906960	NM_144772.3(NAXE):c.22C>T (p.Leu8=)	NAXE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894988	NM_144772.3(NAXE):c.540T>G (p.Tyr180Ter)	NAXE (Y180*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2887210	NM_144772.3(NAXE):c.645C>T (p.Ala215=)	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 2874336	NM_144772.3(NAXE):c.234C>T (p.Phe78=)	NAXE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2842656	NM_144772.3(NAXE):c.27C>T (p.Gly9=)	NAXE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2788336	NM_144772.3(NAXE):c.531T>C (p.Asp177=)	NAXE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2700186	NM_144772.3(NAXE):c.182+11G>A	NAXE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2685699	GRCh37/hg19 1q22-23.1(chr1:156486831-156590431)x1	GPATCH4, HAPLN2 +3 more	Copy number loss	not provided	GUncertain significance
Select item 2639458	NM_001396855.1(GPATCH4):c.219G>A (p.Ala73=)	GPATCH4, NAXE	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2639456	NM_015590.4(GPATCH4):c.348+115G>A	GPATCH4, NAXE	Single nucleotide variant (intron 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 2581322	NM_144772.3(NAXE):c.779del (p.Gly260fs)	NAXE (G260fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
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 2430548	NM_144772.3(NAXE):c.473G>A (p.Cys158Tyr)	NAXE (C158Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2427315	NC_000001.10:g.(?_156554669)_(156568838_?)del	GPATCH4, NAXE +1 more	Deletion	not provided	GPathogenic
Select item 2294613	NM_144772.3(NAXE):c.842C>T (p.Thr281Ile)	NAXE (T281I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 2240248	NM_144772.3(NAXE):c.701A>G (p.Gln234Arg)	NAXE (Q234R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2185633	NM_144772.3(NAXE):c.183-6C>G	NAXE	Single nucleotide variant (intron 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 2171998	NM_144772.3(NAXE):c.108G>T (p.Trp36Cys)	NAXE (W36C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2128986	NM_144772.3(NAXE):c.658C>G (p.Pro220Ala)	NAXE (P220A)	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 2090341	NM_144772.3(NAXE):c.71G>A (p.Ser24Asn)	NAXE (S24N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2083718	NM_144772.3(NAXE):c.664+4C>G	NAXE	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 2067636	NM_144772.3(NAXE):c.582C>T (p.Gly194=)	NAXE	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2061940	NM_144772.3(NAXE):c.856C>T (p.Arg286Cys)	NAXE (R286C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2057884	NM_144772.3(NAXE):c.294A>G (p.Ala98=)	NAXE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2053187	NM_144772.3(NAXE):c.664+18G>T	NAXE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2045406	NM_144772.3(NAXE):c.760C>T (p.Arg254Cys)	NAXE (R254C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2019936	NM_144772.3(NAXE):c.306G>T (p.Thr102=)	NAXE	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2008370	NM_144772.3(NAXE):c.676G>C (p.Glu226Gln)	NAXE (E226Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2001371	NM_144772.3(NAXE):c.703C>T (p.Pro235Ser)	NAXE (P235S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1984869	NM_144772.3(NAXE):c.757G>A (p.Gly253Ser)	NAXE (G253S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1982331	NM_144772.3(NAXE):c.342C>T (p.Ile114=)	NAXE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1969527	NM_144772.3(NAXE):c.402+7A>T	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 1952981	NM_144772.3(NAXE):c.54_55delinsTC (p.Val19Leu)	NAXE (V19L)	Indel (missense variant)	not provided	GLikely benign
Select item 1951593	NM_144772.3(NAXE):c.174G>A (p.Lys58=)	NAXE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1931887	NM_144772.3(NAXE):c.765C>T (p.Tyr255=)	NAXE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1929135	NM_144772.3(NAXE):c.516+4G>C	NAXE	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1922473	NM_144772.3(NAXE):c.182+13C>G	NAXE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1920302	NM_144772.3(NAXE):c.758del (p.Gly253fs)	NAXE (G253fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1904600	NM_144772.3(NAXE):c.848G>T (p.Cys283Phe)	NAXE (C283F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1902083	NM_144772.3(NAXE):c.717A>T (p.Ile239=)	NAXE	Single nucleotide variant (synonymous 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 1802682	NM_144772.3(NAXE):c.473G>C (p.Cys158Ser)	NAXE (C158S)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1719715	NM_144772.3(NAXE):c.724A>G (p.Thr242Ala)	NAXE (T242A)	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 1667911	NM_144772.3(NAXE):c.306G>A (p.Thr102=)	NAXE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1645312	NM_144772.3(NAXE):c.665-12C>T	NAXE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1629074	NM_144772.3(NAXE):c.517-15C>T	NAXE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1626719	NM_144772.3(NAXE):c.516+10T>C	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 1603577	NM_144772.3(NAXE):c.246A>G (p.Gln82=)	NAXE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1600546	NM_144772.3(NAXE):c.165G>A (p.Thr55=)	NAXE	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1572586	NM_144772.3(NAXE):c.627A>G (p.Gly209=)	NAXE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1553801	NM_144772.3(NAXE):c.57G>A (p.Val19=)	NAXE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1551088	NM_144772.3(NAXE):c.825G>A (p.Leu275=)	NAXE	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1551047	NM_144772.3(NAXE):c.330T>C (p.Thr110=)	NAXE	Single nucleotide variant (synonymous 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 1507682	NM_144772.3(NAXE):c.487A>G (p.Ile163Val)	NAXE (I163V)	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 1490458	NM_144772.3(NAXE):c.541G>A (p.Glu181Lys)	NAXE (E181K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1483447	NM_144772.3(NAXE):c.560T>C (p.Ile187Thr)	NAXE (I187T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 1469530	NM_144772.3(NAXE):c.241G>C (p.Asp81His)	NAXE (D81H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1464228	NM_144772.3(NAXE):c.761G>A (p.Arg254His)	NAXE (R254H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1460461	NC_000001.10:g.(?_155581953)_(156851434_?)del	CRABP2, DAP3 +45 more	Deletion	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 1450274	NC_000001.10:g.(?_154141761)_(156851434_?)dup	MUC1, PMVK +90 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1445984	NM_144772.3(NAXE):c.846G>C (p.Glu282Asp)	NAXE (E282D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	EFNA3, EFNA4 +228 more	Duplication	Kostmann syndrome +3 more	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 1436705	NM_144772.3(NAXE):c.842_843delinsTT (p.Thr281Ile)	NAXE (T281I)	Indel (missense variant)	not provided	GUncertain significance
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 1402306	NM_144772.3(NAXE):c.533A>G (p.Glu178Gly)	NAXE (E178G)	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 1400501	NM_144772.3(NAXE):c.536T>C (p.Leu179Pro)	NAXE (L179P)	Single nucleotide variant (missense variant)	not provided	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 1392989	NM_144772.3(NAXE):c.811T>C (p.Tyr271His)	NAXE (Y271H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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