19311[HGNC] - ClinVar

Search results

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 524172	t(12;14)(q14;q13)dn	LIN7A, NPAS3	Translocation	not provided	GLikely pathogenic
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	MIR4503, MIR624 +399 more	Copy number loss	See cases	GPathogenic
Select item 154183	GRCh38/hg38 14q12-13.1(chr14:28803988-33234266)x1	AKAP6, AP4S1 +73 more	Copy number loss	See cases	GPathogenic
Select item 146008	GRCh38/hg38 14q12-21.1(chr14:30382554-37712341)x1	AKAP6, AP4S1 +179 more	Copy number loss	See cases	GPathogenic
Select item 58523	GRCh38/hg38 14q12-21.2(chr14:30670314-44990595)x3	INSM2, KLHL28 +237 more	Copy number gain	See cases	GPathogenic
Select item 154996	GRCh38/hg38 14q12-21.2(chr14:30792271-44685131)x1	LOC126861917, LOC126861918 +225 more	Copy number loss	See cases	GPathogenic
Select item 152789	GRCh38/hg38 14q13.1(chr14:33194658-33238149)x3	NPAS3	Copy number gain	See cases	GUncertain significance
Select item 713996	NM_001164749.2(NPAS3):c.141-8G>A	NPAS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2644157	NM_001164749.2(NPAS3):c.246A>C (p.Ala82=)	NPAS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 786617	NM_001164749.2(NPAS3):c.294T>C (p.Ile98=)	NPAS3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2369784	NM_001164749.2(NPAS3):c.350G>A (p.Arg117Gln)	NPAS3 (R87Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 545162	NC_000014.9:g.(?_33318664)_(33378429_?)del	NPAS3	Deletion	Schizophrenia	GLikely pathogenic
Select item 721504	NM_001164749.2(NPAS3):c.559-9G>A	NPAS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2524295	NM_001164749.2(NPAS3):c.616A>C (p.Met206Leu)	NPAS3 (M174L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467560	NM_001164749.2(NPAS3):c.646C>A (p.Pro216Thr)	NPAS3 (P203T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624222	NM_001164749.2(NPAS3):c.697G>A (p.Ala233Thr)	NPAS3 (A201T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 154467	GRCh38/hg38 14q13.1-13.3(chr14:33762166-36191750)x1	BAZ1A, BAZ1A-AS1 +88 more	Copy number loss	See cases	GUncertain significance
Select item 763481	NM_001164749.2(NPAS3):c.867A>G (p.Thr289=)	NPAS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2514682	NM_001164749.2(NPAS3):c.880C>G (p.Leu294Val)	NPAS3 (L294V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201537	NM_001164749.2(NPAS3):c.889T>G (p.Ser297Ala)	NPAS3 (S282A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249457	NM_001164749.2(NPAS3):c.934G>A (p.Val312Met)	NPAS3 (V282M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644158	NM_001164749.2(NPAS3):c.1006C>T (p.Arg336Ter)	NPAS3 (R304* +4 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2515902	NM_001164749.2(NPAS3):c.1025A>G (p.Asn342Ser)	NPAS3 (N310S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398939	NM_001164749.2(NPAS3):c.1123G>C (p.Val375Leu)	NPAS3 (V343L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771468	NM_001164749.2(NPAS3):c.1368C>T (p.Ser456=)	NPAS3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3201525	NM_001164749.2(NPAS3):c.1410C>A (p.Asp470Glu)	NPAS3 (D440E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282859	NM_001164749.2(NPAS3):c.1438A>G (p.Asn480Asp)	NPAS3 (N448D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299436	NM_001164749.2(NPAS3):c.1468T>A (p.Ser490Thr)	NPAS3 (S475T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784281	NM_001164749.2(NPAS3):c.1479C>T (p.Ser493=)	NPAS3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2644159	NM_001164749.2(NPAS3):c.1500G>C (p.Arg500=)	NPAS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2465543	NM_001164749.2(NPAS3):c.1505A>C (p.Lys502Thr)	NPAS3 (K487T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201526	NM_001164749.2(NPAS3):c.1531A>G (p.Met511Val)	NPAS3 (M498V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2097122	NM_001164749.2(NPAS3):c.1570G>A (p.Asp524Asn)	NPAS3 (D494N +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2390467	NM_001164749.2(NPAS3):c.1639T>C (p.Phe547Leu)	NPAS3 (F532L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243585	NM_001164749.2(NPAS3):c.1657A>T (p.Met553Leu)	NPAS3 (M523L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201527	NM_001164749.2(NPAS3):c.1690G>A (p.Glu564Lys)	NPAS3 (E531K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222999	NM_001164749.2(NPAS3):c.1766C>G (p.Ala589Gly)	NPAS3 (A557G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361121	NM_001164749.2(NPAS3):c.1790A>C (p.His597Pro)	NPAS3 (H567P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548793	NM_001164749.2(NPAS3):c.1791C>A (p.His597Gln)	NPAS3 (H564Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325338	NM_001164749.2(NPAS3):c.1799G>T (p.Arg600Leu)	NPAS3 (R570L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486559	NM_001164749.2(NPAS3):c.1828G>T (p.Gly610Cys)	NPAS3 (G577C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718529	NM_001164749.2(NPAS3):c.1857C>G (p.Ser619Arg)	NPAS3 (S606R +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3201528	NM_001164749.2(NPAS3):c.1916C>T (p.Ser639Phe)	NPAS3 (S606F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201529	NM_001164749.2(NPAS3):c.1922A>G (p.Asn641Ser)	NPAS3 (N628S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325752	NM_001164749.2(NPAS3):c.1933G>A (p.Val645Met)	NPAS3 (V615M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201530	NM_001164749.2(NPAS3):c.1955T>C (p.Ile652Thr)	NPAS3 (I637T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589699	NM_001164749.2(NPAS3):c.2074C>A (p.Pro692Thr)	NPAS3 (P677T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726208	NM_001164749.2(NPAS3):c.2097T>G (p.Gly699=)	NPAS3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2599239	NM_001164749.2(NPAS3):c.2104G>A (p.Gly702Ser)	NPAS3 (G670S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221538	NM_001164749.2(NPAS3):c.2113G>A (p.Gly705Arg)	NPAS3 (G672R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735174	NM_001164749.2(NPAS3):c.2117G>A (p.Gly706Glu)	NPAS3 (G674E +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2622298	NM_001164749.2(NPAS3):c.2146C>T (p.Leu716Phe)	NPAS3 (L684F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720383	NM_001164749.2(NPAS3):c.2148C>T (p.Leu716=)	NPAS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3300588	NM_001164749.2(NPAS3):c.2201C>T (p.Ser734Leu)	NPAS3 (S701L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201532	NM_001164749.2(NPAS3):c.2209G>A (p.Ala737Thr)	NPAS3 (A705T +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2298644	NM_001164749.2(NPAS3):c.2213C>A (p.Ala738Asp)	NPAS3 (A708D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313497	NM_001164749.2(NPAS3):c.2254T>G (p.Ser752Ala)	NPAS3 (S720A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313498	NM_001164749.2(NPAS3):c.2255C>G (p.Ser752Trp)	NPAS3 (S752W +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768647	NM_001164749.2(NPAS3):c.2256G>A (p.Ser752=)	NPAS3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2509944	NM_001164749.2(NPAS3):c.2299G>A (p.Gly767Arg)	NPAS3 (G754R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399830	NM_001164749.2(NPAS3):c.2303G>A (p.Gly768Asp)	NPAS3 (G768D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747210	NM_001164749.2(NPAS3):c.2313C>T (p.Gly771=)	NPAS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2256717	NM_001164749.2(NPAS3):c.2323G>A (p.Gly775Ser)	NPAS3 (G775S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204594	NM_001164749.2(NPAS3):c.2337C>A (p.Ser779Arg)	NPAS3 (S747R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201533	NM_001164749.2(NPAS3):c.2443G>T (p.Ala815Ser)	NPAS3 (A782S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532486	NM_001164749.2(NPAS3):c.2446A>G (p.Thr816Ala)	NPAS3 (T801A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465303	NM_001164749.2(NPAS3):c.2462A>G (p.Gln821Arg)	NPAS3 (Q791R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569412	NM_001164749.2(NPAS3):c.2524A>G (p.Ser842Gly)	NPAS3 (S827G +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 764034	NM_001164749.2(NPAS3):c.2577C>G (p.Pro859=)	NPAS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2547792	NM_001164749.2(NPAS3):c.2585G>A (p.Gly862Asp)	NPAS3 (G830D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205565	NM_001164749.2(NPAS3):c.2593C>T (p.Pro865Ser)	NPAS3 (P833S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063324	GRCh37/hg19 14q12-21.2(chr14:29190489-45325177)x1	AKAP6, AP4S1 +48 more	Copy number loss	not specified	GPathogenic
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 1809348	GRCh37/hg19 14q12-13.1(chr14:24959823-33415359)x1	AKAP6, AP4S1 +19 more	Copy number loss	not provided	GPathogenic
Select item 1807987	GRCh37/hg19 14q13.1(chr14:33656354-34157207)x1	NPAS3	Copy number loss	not provided	GUncertain significance
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 1341281	GRCh37/hg19 14q13.1(chr14:33656353-34162087)x1	NPAS3	Copy number loss	not provided	GUncertain significance
Select item 1340713	GRCh37/hg19 14q13.1(chr14:33766967-34010728)x1	NPAS3	Copy number loss	not provided	GUncertain significance
Select item 1047865	GRCh37/hg19 14q13.1-21.2(chr14:33608925-44570367)	BAZ1A, BRMS1L +33 more	Copy number loss	Poor motor coordination	GPathogenic
Select item 980482	GRCh37/hg19 14q13.1(chr14:34190493-34678663)x1	NPAS3, EGLN3	Copy number loss	not provided	GUncertain significance
Select item 980481	GRCh37/hg19 14q13.1(chr14:33463166-33998038)x1	NPAS3	Copy number loss	not provided	GLikely benign
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 688436	GRCh37/hg19 14q12-13.1(chr14:33019818-33594129)x4	AKAP6, NPAS3	Copy number gain	not provided	GUncertain significance
Select item 688414	GRCh37/hg19 14q12-13.1(chr14:30448939-35017859)x1	AKAP6, AP4S1 +14 more	Copy number loss	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 442561	GRCh37/hg19 14q13.1(chr14:34017469-34207276)x3	NPAS3	Copy number gain	See cases	GUncertain significance
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	OR5AU1, OR6S1 +164 more	Copy number gain	See cases	GPathogenic

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Items: 96