Related gene-specific medical variations for Gene (Select 54187) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3174793	NM_018946.4(NANS):c.970C>T (p.Pro324Ser)	NANS, TRIM14 (P324S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174790	NM_018946.4(NANS):c.95A>C (p.Asp32Ala)	NANS, TRIM14 (D32A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3047496	NM_018946.4(NANS):c.924A>G (p.Thr308=)	TRIM14, NANS	Single nucleotide variant (synonymous variant)	NANS-related disorder	GLikely benign
Select item 3015619	NM_018946.4(NANS):c.449-6A>G	NANS, TRIM14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015314	NM_018946.4(NANS):c.576T>C (p.Pro192=)	NANS, TRIM14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005400	NM_018946.4(NANS):c.333C>T (p.Ala111=)	NANS, TRIM14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001232	NM_018946.4(NANS):c.132+10C>A	TRIM14, LOC130002204 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993398	NM_018946.4(NANS):c.906G>A (p.Pro302=)	NANS, TRIM14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968406	NM_018946.4(NANS):c.131A>C (p.Lys44Thr)	LOC130002204, NANS +1 more (K44T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2956896	NM_018946.4(NANS):c.678C>T (p.Ala226=)	NANS, TRIM14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902862	NM_018946.4(NANS):c.870+8C>T	NANS, TRIM14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2896629	NM_018946.4(NANS):c.349-9T>C	NANS, TRIM14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2881385	NM_018946.4(NANS):c.509A>G (p.Gln170Arg)	NANS, TRIM14 (Q170R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2823588	NM_018946.4(NANS):c.349-2A>G	NANS, TRIM14	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2788475	NM_018946.4(NANS):c.564C>T (p.Tyr188=)	NANS, TRIM14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2781054	NM_018946.4(NANS):c.603+12G>T	TRIM14, NANS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2757279	NM_018946.4(NANS):c.792G>A (p.Arg264=)	TRIM14, NANS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2749758	NM_018946.4(NANS):c.1056T>C (p.Asn352=)	NANS, TRIM14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2719918	NM_018946.4(NANS):c.132+17dup	LOC130002204, NANS +1 more	Duplication (intron variant)	not provided	GLikely benign
Select item 2695321	NM_018946.4(NANS):c.1014T>A (p.Thr338=)	NANS, TRIM14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2572591	NM_018946.4(NANS):c.668T>C (p.Ile223Thr)	NANS, TRIM14 (I223T)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, Genevieve type	GUncertain significance
Select item 2572433	NM_018946.4(NANS):c.735G>A (p.Trp245Ter)	NANS, TRIM14 (W245*)	Single nucleotide variant (nonsense)	Spondyloepimetaphyseal dysplasia, Genevieve type	GLikely pathogenic
Select item 2517493	NM_018946.4(NANS):c.812G>A (p.Arg271His)	NANS, TRIM14 (R271H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507214	NM_018946.4(NANS):c.772G>T (p.Glu258Ter)	NANS, TRIM14 (E258*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2507125	NM_018946.4(NANS):c.200T>C (p.Leu67Ser)	NANS, TRIM14 (L67S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434037	NM_018946.4(NANS):c.937A>G (p.Thr313Ala)	NANS, TRIM14 (T313A)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, Genevieve type	GUncertain significance
Select item 2426501	NC_000009.11:g.(?_100839180)_(100845337_?)del	NANS, TRIM14	Deletion	not provided	GUncertain significance
Select item 2419140	NM_018946.4(NANS):c.800G>A (p.Arg267His)	NANS, TRIM14 (R267H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2310274	NM_018946.4(NANS):c.207G>T (p.Arg69Ser)	NANS, TRIM14 (R69S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249846	NM_018946.4(NANS):c.934C>T (p.Leu312Phe)	NANS, TRIM14 (L312F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246935	NM_018946.4(NANS):c.98T>G (p.Leu33Arg)	NANS, TRIM14 (L33R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230177	NM_018946.4(NANS):c.457A>G (p.Met153Val)	NANS, TRIM14 (M153V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218249	NM_018946.4(NANS):c.592C>T (p.Arg198Trp)	NANS, TRIM14 (R198W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209293	NM_018946.4(NANS):c.778G>A (p.Ala260Thr)	NANS, TRIM14 (A260T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2197046	NM_018946.4(NANS):c.122G>T (p.Arg41Leu)	LOC130002204, NANS +1 more (R41L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2196517	NM_018946.4(NANS):c.905C>T (p.Pro302Leu)	TRIM14, NANS (P302L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2188098	NM_018946.4(NANS):c.449-9A>C	NANS, TRIM14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2182027	NM_018946.4(NANS):c.10GAGCTG[1] (p.4EL[1])	LOC130002203, NANS +1 more	Microsatellite (inframe_deletion)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2180922	NM_018946.4(NANS):c.595G>A (p.Val199Ile)	NANS, TRIM14 (V199I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2179299	NM_018946.4(NANS):c.191G>A (p.Arg64Gln)	NANS, TRIM14 (R64Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2177518	NM_018946.4(NANS):c.870+3G>A	NANS, TRIM14	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2176840	NM_018946.4(NANS):c.492C>G (p.Thr164=)	NANS, TRIM14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2166500	NM_018946.4(NANS):c.829A>G (p.Thr277Ala)	NANS, TRIM14 (T277A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2136798	NM_018946.4(NANS):c.244G>A (p.Gly82Arg)	TRIM14, NANS (G82R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2127239	NM_018946.4(NANS):c.535T>G (p.Phe179Val)	NANS, TRIM14 (F179V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2123960	NM_018946.4(NANS):c.1007T>C (p.Leu336Pro)	NANS, TRIM14 (L336P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2118904	NM_018946.4(NANS):c.638G>A (p.Gly213Glu)	NANS, TRIM14 (G213E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2101088	NM_018946.4(NANS):c.395T>C (p.Val132Ala)	NANS, TRIM14 (V132A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2096012	NM_018946.4(NANS):c.147T>C (p.Asp49=)	NANS, TRIM14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2086476	NM_018946.4(NANS):c.137G>A (p.Cys46Tyr)	NANS, TRIM14 (C46Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2070608	NM_018946.4(NANS):c.52C>G (p.Pro18Ala)	TRIM14, NANS (P18A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2065341	NM_018946.4(NANS):c.379G>A (p.Val127Ile)	NANS, TRIM14 (V127I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2054365	NM_018946.4(NANS):c.278A>C (p.Asp93Ala)	NANS, TRIM14 (D93A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2030796	NM_018946.4(NANS):c.603+19dup	NANS, TRIM14	Duplication (intron variant)	not provided	GBenign
Select item 2017934	NM_018946.4(NANS):c.448+17T>A	NANS, TRIM14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2014800	NM_018946.4(NANS):c.344A>T (p.Asp115Val)	NANS, TRIM14 (D115V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1991098	NM_018946.4(NANS):c.870+13G>A	NANS, TRIM14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1987134	NM_018946.4(NANS):c.671C>G (p.Ser224Cys)	TRIM14, NANS (S224C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1985661	NM_018946.4(NANS):c.1035C>A (p.Ile345=)	NANS, TRIM14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1978891	NM_018946.4(NANS):c.133-5T>G	NANS, TRIM14	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1974752	NM_018946.4(NANS):c.667A>G (p.Ile223Val)	NANS, TRIM14 (I223V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1969891	NM_018946.4(NANS):c.32G>T (p.Arg11Leu)	NANS, TRIM14 (R11L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1968748	NM_018946.4(NANS):c.133-5del	NANS, TRIM14	Deletion (intron variant)	not provided	GLikely benign
Select item 1965193	NM_018946.4(NANS):c.484A>G (p.Met162Val)	NANS, TRIM14 (M162V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1953931	NM_018946.4(NANS):c.721T>C (p.Leu241=)	NANS, TRIM14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1953125	NM_018946.4(NANS):c.321C>T (p.Ile107=)	NANS, TRIM14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1949167	NM_018946.4(NANS):c.307G>A (p.Glu103Lys)	NANS, TRIM14 (E103K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1947665	NM_018946.4(NANS):c.348+17T>A	NANS, TRIM14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1936534	NM_018946.4(NANS):c.622C>G (p.Pro208Ala)	NANS, TRIM14 (P208A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1930647	NM_018946.4(NANS):c.239C>T (p.Thr80Met)	NANS, TRIM14 (T80M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1928281	NM_018946.4(NANS):c.280C>G (p.Gln94Glu)	NANS, TRIM14 (Q94E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1923823	NM_018946.4(NANS):c.753G>A (p.Ser251=)	NANS, TRIM14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1921909	NM_018946.4(NANS):c.133-17C>T	NANS, TRIM14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1915512	NM_018946.4(NANS):c.1065A>G (p.Lys355=)	NANS, TRIM14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1914386	NM_018946.4(NANS):c.559G>A (p.Ala187Thr)	NANS, TRIM14 (A187T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1906740	NM_018946.4(NANS):c.132+20G>A	LOC130002204, NANS +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1905859	NM_018946.4(NANS):c.790C>T (p.Arg264Trp)	NANS, TRIM14 (R264W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1900850	NM_018946.4(NANS):c.277G>A (p.Asp93Asn)	NANS, TRIM14 (D93N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1899081	NM_018946.4(NANS):c.348+17T>C	NANS, TRIM14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1897204	NM_018946.4(NANS):c.190C>T (p.Arg64Trp)	TRIM14, NANS (R64W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1715364	NM_018946.4(NANS):c.410C>T (p.Thr137Ile)	NANS, TRIM14 (T137I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1686634	NM_018946.4(NANS):c.607T>C (p.Tyr203His)	NANS, TRIM14 (Y203H)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, Genevieve type	GLikely pathogenic
Select item 1684568	NM_018946.4(NANS):c.133-12T>A	NANS, TRIM14	Single nucleotide variant (intron variant)	Spondyloepimetaphyseal dysplasia, Genevieve type	GPathogenic
Select item 1684567	NM_018946.4(NANS):c.207del (p.Arg69fs)	NANS, TRIM14 (R69fs)	Deletion (frameshift variant)	Spondyloepimetaphyseal dysplasia, Genevieve type	GLikely pathogenic
Select item 1668570	NM_018946.4(NANS):c.303C>T (p.Tyr101=)	NANS, TRIM14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1660375	NM_018946.4(NANS):c.567G>A (p.Pro189=)	TRIM14, NANS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1656359	NM_018946.4(NANS):c.1029C>T (p.Asp343=)	NANS, TRIM14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1642381	NM_018946.4(NANS):c.666G>A (p.Ala222=)	NANS, TRIM14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1637100	NM_018946.4(NANS):c.348+18C>T	NANS, TRIM14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1634819	NM_018946.4(NANS):c.348+7C>T	NANS, TRIM14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1590443	NM_018946.4(NANS):c.240G>A (p.Thr80=)	NANS, TRIM14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1589547	NM_018946.4(NANS):c.804T>G (p.Leu268=)	NANS, TRIM14	Single nucleotide variant (synonymous variant)	NANS-related disorder +1 more	GLikely benign
Select item 1587348	NM_018946.4(NANS):c.558C>T (p.Ser186=)	NANS, TRIM14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1574566	NM_018946.4(NANS):c.273C>T (p.Ser91=)	TRIM14, NANS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1567730	NM_018946.4(NANS):c.771A>G (p.Gly257=)	NANS, TRIM14	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1567637	NM_018946.4(NANS):c.354A>G (p.Ala118=)	NANS, TRIM14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1564467	NM_018946.4(NANS):c.700G>A (p.Val234Met)	NANS, TRIM14 (V234M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1511077	NM_018946.4(NANS):c.104T>C (p.Val35Ala)	LOC130002204, NANS +1 more (V35A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1484552	NM_018946.4(NANS):c.635T>C (p.Ile212Thr)	NANS, TRIM14 (I212T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1461505	NM_018946.4(NANS):c.314T>C (p.Val105Ala)	NANS, TRIM14 (V105A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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