SEPTIN14[gene] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 146855	GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1	ABCA13, ADCY1 +426 more	Copy number loss	See cases	GPathogenic
Select item 58866	GRCh38/hg38 7p12.1-11.2(chr7:52114454-57434735)x1	CCT6A, CHCHD2 +107 more	Copy number loss	See cases	GUncertain significance
Select item 59596	GRCh38/hg38 7p12.1-11.2(chr7:52192528-57823293)x3	CCT6A, CHCHD2 +107 more	Copy number gain	See cases	GUncertain significance
Select item 545348	Single allele	CCT6A, CHCHD2 +95 more	Duplication	Autism	GLikely pathogenic
Select item 59682	GRCh38/hg38 7p12.1-q11.22(chr7:53274059-68576213)x3	ASL, CCT6A +229 more	Copy number gain	See cases	GPathogenic
Select item 59597	GRCh38/hg38 7p12.1-11.2(chr7:53450330-56107195)x3	CCT6A, CHCHD2 +93 more	Copy number gain	See cases	GUncertain significance
Select item 153106	GRCh38/hg38 7p11.2(chr7:55538414-56107195)x3	CCT6A, CHCHD2 +44 more	Copy number gain	See cases	GUncertain significance
Select item 154478	GRCh38/hg38 7p11.2(chr7:55733060-56107195)x1	CCT6A, CHCHD2 +30 more	Copy number loss	See cases	GBenign
Select item 3160098	NM_207366.3(SEPTIN14):c.1269T>A (p.Asp423Glu)	SEPTIN14 (D423E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491353	NM_207366.3(SEPTIN14):c.1267G>A (p.Asp423Asn)	SEPTIN14 (D423N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160096	NM_207366.3(SEPTIN14):c.1199A>T (p.Glu400Val)	SEPTIN14 (E400V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160095	NM_207366.3(SEPTIN14):c.1194A>T (p.Gln398His)	SEPTIN14 (Q398H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160094	NM_207366.3(SEPTIN14):c.1153C>G (p.Gln385Glu)	SEPTIN14 (Q385E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160093	NM_207366.3(SEPTIN14):c.1135G>A (p.Glu379Lys)	SEPTIN14 (E379K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 145628	GRCh38/hg38 7p11.2(chr7:55805157-56107195)x1	CCT6A, CHCHD2 +30 more	Copy number loss	See cases	GUncertain significance
Select item 3160092	NM_207366.3(SEPTIN14):c.1112A>C (p.Glu371Ala)	SEPTIN14 (E371A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468183	NM_207366.3(SEPTIN14):c.1076G>A (p.Arg359Gln)	SEPTIN14 (R359Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496367	NM_207366.3(SEPTIN14):c.1040G>A (p.Arg347Lys)	SEPTIN14 (R347K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160091	NM_207366.3(SEPTIN14):c.1025A>G (p.Tyr342Cys)	SEPTIN14 (Y342C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160119	NM_207366.3(SEPTIN14):c.991C>A (p.Gln331Lys)	SEPTIN14 (Q331K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160117	NM_207366.3(SEPTIN14):c.860T>C (p.Met287Thr)	SEPTIN14 (M287T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160116	NM_207366.3(SEPTIN14):c.854G>A (p.Arg285Gln)	SEPTIN14 (R285Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160115	NM_207366.3(SEPTIN14):c.847A>G (p.Lys283Glu)	SEPTIN14 (K283E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160114	NM_207366.3(SEPTIN14):c.796T>C (p.Tyr266His)	SEPTIN14 (Y266H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160113	NM_207366.3(SEPTIN14):c.790C>T (p.Arg264Cys)	SEPTIN14 (R264C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531422	NM_207366.3(SEPTIN14):c.766G>A (p.Val256Ile)	SEPTIN14 (V256I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160112	NM_207366.3(SEPTIN14):c.733T>C (p.Phe245Leu)	SEPTIN14 (F245L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160111	NM_207366.3(SEPTIN14):c.668A>G (p.Tyr223Cys)	SEPTIN14 (Y223C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 425410	NM_207366.3(SEPTIN14):c.599C>T (p.Ser200Phe)	SEPTIN14 (S200F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3160110	NM_207366.3(SEPTIN14):c.595A>G (p.Ile199Val)	SEPTIN14 (I199V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552488	NM_207366.3(SEPTIN14):c.536C>T (p.Thr179Ile)	SEPTIN14 (T179I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160109	NM_207366.3(SEPTIN14):c.527A>T (p.Asp176Val)	SEPTIN14 (D176V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160108	NM_207366.3(SEPTIN14):c.469C>T (p.Arg157Cys)	SEPTIN14 (R157C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520034	NM_207366.3(SEPTIN14):c.443G>A (p.Arg148His)	SEPTIN14 (R148H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727833	NM_207366.3(SEPTIN14):c.418C>A (p.Leu140Ile)	SEPTIN14 (L140I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3160107	NM_207366.3(SEPTIN14):c.410A>G (p.Glu137Gly)	SEPTIN14 (E137G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160106	NM_207366.3(SEPTIN14):c.388G>C (p.Asp130His)	SEPTIN14 (D130H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541600	NM_207366.3(SEPTIN14):c.347G>C (p.Gly116Ala)	SEPTIN14 (G116A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317487	NM_207366.3(SEPTIN14):c.338T>C (p.Val113Ala)	SEPTIN14 (V113A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317486	NM_207366.3(SEPTIN14):c.331G>A (p.Glu111Lys)	SEPTIN14 (E111K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3160105	NM_207366.3(SEPTIN14):c.284C>G (p.Thr95Arg)	SEPTIN14 (T95R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160104	NM_207366.3(SEPTIN14):c.278T>C (p.Ile93Thr)	SEPTIN14 (I93T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160103	NM_207366.3(SEPTIN14):c.265G>A (p.Val89Ile)	SEPTIN14 (V89I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558544	NM_207366.3(SEPTIN14):c.244T>A (p.Ser82Thr)	SEPTIN14 (S82T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 425411	NM_207366.3(SEPTIN14):c.242A>G (p.Lys81Arg)	SEPTIN14 (K81R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3160102	NM_207366.3(SEPTIN14):c.224C>G (p.Thr75Ser)	SEPTIN14 (T75S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160101	NM_207366.3(SEPTIN14):c.205A>T (p.Ile69Leu)	SEPTIN14 (I69L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784111	NM_207366.3(SEPTIN14):c.180G>A (p.Glu60=)	SEPTIN14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3160100	NM_207366.3(SEPTIN14):c.152T>A (p.Phe51Tyr)	SEPTIN14 (F51Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160118	NM_207366.3(SEPTIN14):c.86C>T (p.Thr29Met)	SEPTIN14 (T29M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 151573	GRCh38/hg38 7p11.2(chr7:55847801-55863945)x3	SEPTIN14	Copy number gain	See cases	GLikely benign
Select item 2541921	NM_207366.3(SEPTIN14):c.19G>A (p.Ala7Thr)	SEPTIN14 (A7T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160097	NM_207366.3(SEPTIN14):c.11G>A (p.Arg4Lys)	SEPTIN14 (R4K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 725591	NM_207366.3(SEPTIN14):c.10A>G (p.Arg4Gly)	SEPTIN14 (R4G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 786544	NM_207366.3(SEPTIN14):c.4G>A (p.Ala2Thr)	SEPTIN14 (A2T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2684487	GRCh37/hg19 7p11.2-11.1(chr7:55498635-58025873)x3	CCT6A, CHCHD2 +12 more	Copy number gain	not provided	GUncertain significance
Select item 1809442	GRCh37/hg19 7p12.1-11.2(chr7:53991820-56148011)x3	CCT6A, EGFR +12 more	Copy number gain	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1340760	GRCh37/hg19 7p11.2(chr7:55776531-56393852)x3	CCT6A, CHCHD2 +8 more	Copy number gain	not provided	GLikely benign
Select item 1340644	GRCh37/hg19 7p11.2(chr7:55757106-56489653)x3	CCT6A, CHCHD2 +8 more	Copy number gain	not provided	GLikely benign
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 685442	GRCh37/hg19 7p12.1-11.1(chr7:52809787-58025873)x1	CCT6A, CHCHD2 +17 more	Copy number loss	not provided	GUncertain significance
Select item 503572	GRCh37/hg19 7p11.2(chr7:55848150-56344705)x3	PHKG1, PSPH +8 more	Copy number gain	See cases	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442331	GRCh37/hg19 7p11.2(chr7:55550741-56945077)x1	CCT6A, CHCHD2 +9 more	Copy number loss	See cases	GLikely benign
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395009	GRCh37/hg19 7p11.2(chr7:54972516-56172165)x1	CCT6A, CHCHD2 +10 more	Copy number loss	See cases	GPathogenic
Select item 394272	GRCh37/hg19 7p11.2(chr7:55874737-56172165)x3	CCT6A, CHCHD2 +7 more	Copy number gain	See cases	GBenign
Select item 253758	GRCh37/hg19 7p11.2(chr7:55874737-56172217)x1	SUMF2, CCT6A +7 more	Copy number loss	See cases	GUncertain significance
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 74