NANS[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 59902	GRCh38/hg38 9q22.31-22.33(chr9:92561720-98122580)x3	LOC132089736, LOC132089737 +313 more	Copy number gain	See cases	GPathogenic
Select item 145977	GRCh38/hg38 9q22.32-22.33(chr9:94713892-98121186)x1	ANP32B, AOPEP +197 more	Copy number loss	See cases	GPathogenic
Select item 144971	GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1	LOC130002205, LOC130002206 +417 more	Copy number loss	See cases	GPathogenic
Select item 1238110	NC_000009.12:g.98056438C>T	NANS, TRIM14	Single nucleotide variant	not provided	GBenign
Select item 1238424	NM_018946.4(NANS):c.-21T>G	LOC130002203, NANS +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 810396	NM_018946.4(NANS):c.1A>G (p.Met1Val)	LOC130002203, NANS +1 more (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
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 1969891	NM_018946.4(NANS):c.32G>T (p.Arg11Leu)	NANS, TRIM14 (R11L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2070608	NM_018946.4(NANS):c.52C>G (p.Pro18Ala)	NANS, TRIM14 (P18A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 728546	NM_018946.4(NANS):c.53C>T (p.Pro18Leu)	TRIM14, NANS (P18L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1459209	NM_018946.4(NANS):c.92del (p.Gly31fs)	NANS, TRIM14 (G31fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 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 1241755	NM_018946.4(NANS):c.102C>T (p.Asp34=)	NANS, TRIM14	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia, Genevieve type +1 more	GBenign
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 3298418	NM_018946.4(NANS):c.113G>A (p.Arg38His)	LOC130002204, NANS +1 more (R38H)	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 764754	NM_018946.4(NANS):c.129C>T (p.Ala43=)	LOC130002204, NANS +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3001232	NM_018946.4(NANS):c.132+10C>A	LOC130002204, NANS +1 more	Single nucleotide variant (intron 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 1906740	NM_018946.4(NANS):c.132+20G>A	LOC130002204, NANS +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1250825	NM_018946.4(NANS):c.133-224T>A	NANS, TRIM14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247387	NM_018946.4(NANS):c.133-124G>A	NANS, TRIM14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1921909	NM_018946.4(NANS):c.133-17C>T	NANS, TRIM14	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1968748	NM_018946.4(NANS):c.133-5del	NANS, TRIM14	Deletion (intron 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 2086476	NM_018946.4(NANS):c.137G>A (p.Cys46Tyr)	NANS, TRIM14 (C46Y)	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 1250394	NM_018946.4(NANS):c.153T>C (p.Ala51=)	NANS, TRIM14	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia, Genevieve type +1 more	GBenign
Select item 1429096	NM_018946.4(NANS):c.182A>G (p.Lys61Arg)	NANS, TRIM14 (K61R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1897204	NM_018946.4(NANS):c.190C>T (p.Arg64Trp)	NANS, TRIM14 (R64W)	Single nucleotide variant (missense variant)	not provided	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 2507125	NM_018946.4(NANS):c.200T>C (p.Leu67Ser)	NANS, TRIM14 (L67S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1271889	NM_018946.4(NANS):c.204G>C (p.Glu68Asp)	NANS, TRIM14 (E68D)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 1359730	NM_018946.4(NANS):c.211T>C (p.Tyr71His)	NANS, TRIM14 (Y71H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1394191	NM_018946.4(NANS):c.218C>G (p.Ser73Trp)	NANS, TRIM14 (S73W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 751459	NM_018946.4(NANS):c.219G>A (p.Ser73=)	NANS, TRIM14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1590443	NM_018946.4(NANS):c.240G>A (p.Thr80=)	NANS, TRIM14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2136798	NM_018946.4(NANS):c.244G>A (p.Gly82Arg)	NANS, TRIM14 (G82R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1372048	NM_018946.4(NANS):c.244G>C (p.Gly82Arg)	NANS, TRIM14 (G82R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 799540	NM_018946.4(NANS):c.267G>A (p.Glu89=)	NANS, TRIM14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1574566	NM_018946.4(NANS):c.273C>T (p.Ser91=)	NANS, TRIM14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1900850	NM_018946.4(NANS):c.277G>A (p.Asp93Asn)	TRIM14, NANS (D93N)	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 1928281	NM_018946.4(NANS):c.280C>G (p.Gln94Glu)	NANS, TRIM14 (Q94E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 596046	NM_018946.4(NANS):c.304G>A (p.Ala102Thr)	NANS, TRIM14 (A102T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 726699	NM_018946.4(NANS):c.306C>T (p.Ala102=)	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 1461505	NM_018946.4(NANS):c.314T>C (p.Val105Ala)	NANS, TRIM14 (V105A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3005400	NM_018946.4(NANS):c.333C>T (p.Ala111=)	NANS, TRIM14	Single nucleotide variant (synonymous 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 1634819	NM_018946.4(NANS):c.348+7C>T	NANS, TRIM14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1947665	NM_018946.4(NANS):c.348+17T>A	NANS, TRIM14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1899081	NM_018946.4(NANS):c.348+17T>C	NANS, TRIM14	Single nucleotide variant (intron 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 1182016	NM_018946.4(NANS):c.348+81C>A	TRIM14, NANS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2896629	NM_018946.4(NANS):c.349-9T>C	NANS, TRIM14	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 734153	NM_018946.4(NANS):c.351G>A (p.Met117Ile)	NANS, TRIM14 (M117I)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely 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 1397813	NM_018946.4(NANS):c.356T>G (p.Val119Gly)	TRIM14, NANS (V119G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 759886	NM_018946.4(NANS):c.366G>C (p.Leu122=)	NANS, TRIM14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 235185	NM_018946.4(NANS):c.389dup (p.Lys131fs)	NANS, TRIM14 (K131fs)	Duplication (frameshift variant)	Spondyloepimetaphyseal dysplasia, Genevieve type	GPathogenic
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 235188	NM_018946.4(NANS):c.398G>T (p.Gly133Val)	NANS, TRIM14 (G133V)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, Genevieve type	GPathogenic
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 235186	NM_018946.4(NANS):c.448+1G>A	NANS, TRIM14	Single nucleotide variant (splice donor variant)	Spondyloepimetaphyseal dysplasia, Genevieve type	GPathogenic
Select item 2017934	NM_018946.4(NANS):c.448+17T>A	NANS, TRIM14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 235184	NM_018946.4(NANS):c.449-10_449-5delinsATGG	NANS, TRIM14	Indel (intron variant)	not provided	GLikely pathogenic
Select item 2188098	NM_018946.4(NANS):c.449-9A>C	NANS, TRIM14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 872553	NM_018946.4(NANS):c.449-9_449-5del	NANS, TRIM14	Deletion (intron variant)	not provided	GPathogenic
Select item 3015619	NM_018946.4(NANS):c.449-6A>G	NANS, TRIM14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1426051	NM_018946.4(NANS):c.451C>T (p.Arg151Cys)	NANS, TRIM14 (R151C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1432466	NM_018946.4(NANS):c.452G>T (p.Arg151Leu)	NANS, TRIM14 (R151L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 235187	NM_018946.4(NANS):c.452G>A (p.Arg151His)	TRIM14, NANS (R151H)	Single nucleotide variant (missense variant)	not provided +1 more	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 1352183	NM_018946.4(NANS):c.464T>C (p.Ile155Thr)	NANS, TRIM14 (I155T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1341506	NM_018946.4(NANS):c.476T>G (p.Met159Arg)	NANS, TRIM14 (M159R)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, Genevieve type	GLikely pathogenic
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 2176840	NM_018946.4(NANS):c.492C>G (p.Thr164=)	NANS, TRIM14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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