CYC1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000156, LOC130000157 +3106 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	LOC130001211, LOC130001212 +1690 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC130001139, LOC130001140 +1686 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC126860518, LOC126860519 +1552 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130000964, LOC130000965 +1531 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130000908, LOC130000909 +1406 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	LOC130001371, LOC130001372 +1329 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130001420, LOC130001421 +1204 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001415, LOC130001416 +1067 more	Copy number gain	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC124188223, LOC124188224 +961 more	Copy number gain	See cases	GPathogenic
Select item 148271	GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3	ADCK5, ADCY8 +746 more	Copy number gain	See cases	GPathogenic
Select item 33826	GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	LOC130001144, LOC130001145 +745 more	Copy number gain	See cases	GPathogenic
Select item 57179	GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3	ADCK5, ADCY8 +567 more	Copy number gain	See cases	GPathogenic
Select item 148571	GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3	EPPK1, ERICD +499 more	Copy number gain	See cases	GPathogenic
Select item 148265	GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3	TOP1MT, TRAPPC9 +373 more	Copy number gain	See cases	GLikely pathogenic
Select item 148392	GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3	ADCK5, ADGRB1 +375 more	Copy number gain	See cases	GLikely pathogenic
Select item 152355	GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1	ADGRB1, ARC +172 more	Copy number loss	See cases	GPathogenic
Select item 60411	GRCh38/hg38 8q24.3(chr8:143684819-144287978)x1	BOP1, CCDC166 +87 more	Copy number loss	See cases	GPathogenic
Select item 57047	GRCh38/hg38 8q24.3(chr8:144002671-144796947)x3	ADCK5, ARHGAP39 +120 more	Copy number gain	See cases	GPathogenic
Select item 1294357	NC_000008.11:g.144094920G>T	CYC1	Single nucleotide variant	not provided	GBenign
Select item 1216268	NC_000008.11:g.144094945G>A	CYC1	Single nucleotide variant	not provided	GLikely benign
Select item 1247138	NC_000008.11:g.144094957A>G	CYC1	Single nucleotide variant	not provided	GBenign
Select item 1900186	NM_001916.5(CYC1):c.11C>T (p.Ala4Val)	CYC1 (A4V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2458888	NM_001916.5(CYC1):c.13G>A (p.Ala5Thr)	CYC1 (A5T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2442475	NM_001916.5(CYC1):c.28G>C (p.Gly10Arg)	CYC1 (G10R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 506457	NM_001916.5(CYC1):c.33A>G (p.Val11=)	CYC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967696	NM_001916.5(CYC1):c.34G>C (p.Val12Leu)	CYC1 (V12L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1215351	NM_001916.5(CYC1):c.35T>C (p.Val12Ala)	CYC1 (V12A)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1923167	NM_001916.5(CYC1):c.47G>C (p.Arg16Pro)	CYC1 (R16P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1975043	NM_001916.5(CYC1):c.72T>C (p.Arg24=)	CYC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2258285	NM_001916.5(CYC1):c.79G>A (p.Gly27Ser)	CYC1 (G27S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2795380	NM_001916.5(CYC1):c.95C>G (p.Ala32Gly)	CYC1 (A32G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 379959	NM_001916.5(CYC1):c.99T>G (p.Arg33=)	CYC1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1976625	NM_001916.5(CYC1):c.117A>G (p.Leu39=)	CYC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1922200	NM_001916.5(CYC1):c.125C>T (p.Pro42Leu)	CYC1 (P42L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2973130	NM_001916.5(CYC1):c.129+19C>T	CYC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1902267	NM_001916.5(CYC1):c.130-17G>T	CYC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2015020	NM_001916.5(CYC1):c.132A>C (p.Ala44=)	CYC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2537136	NM_001916.5(CYC1):c.140T>G (p.Leu47Trp)	CYC1 (L47W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2892203	NM_001916.5(CYC1):c.154G>C (p.Gly52Arg)	CYC1 (G52R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2168983	NM_001916.5(CYC1):c.168C>T (p.Gly56=)	CYC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 746543	NM_001916.5(CYC1):c.192G>T (p.Leu64=)	CYC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2089052	NM_001916.5(CYC1):c.216G>C (p.Ala72=)	CYC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1563843	NM_001916.5(CYC1):c.226= (p.Met76=)	CYC1	Variation (no sequence alteration)	not provided	GBenign
Select item 1255439	NM_001916.5(CYC1):c.226A>G (p.Met76Val)	CYC1 (M76V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 235356	NM_001916.5(CYC1):c.227T>C (p.Met76Thr)	CYC1 (M76T)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2287656	NM_001916.5(CYC1):c.241G>A (p.Ala81Thr)	CYC1 (A81T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1954587	NM_001916.5(CYC1):c.245T>A (p.Val82Glu)	CYC1 (V82E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2008853	NM_001916.5(CYC1):c.253A>G (p.Ser85Gly)	CYC1 (S85G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2140458	NM_001916.5(CYC1):c.258C>T (p.Asp86=)	CYC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734427	NM_001916.5(CYC1):c.259C>T (p.Leu87=)	CYC1	Single nucleotide variant (synonymous variant)	CYC1-related disorder +1 more	GLikely benign
Select item 1216737	NM_001916.5(CYC1):c.264G>C (p.Glu88Asp)	CYC1 (E88D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2978033	NM_001916.5(CYC1):c.276dup (p.Ser93fs)	CYC1 (S93fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2272410	NM_001916.5(CYC1):c.275C>T (p.Pro92Leu)	CYC1 (P92L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523481	NM_001916.5(CYC1):c.284C>T (p.Pro95Leu)	CYC1 (P95L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 66019	NM_001916.5(CYC1):c.288G>T (p.Trp96Cys)	CYC1 (W96C)	Single nucleotide variant (missense variant)	Mitochondrial complex III deficiency nuclear type 6	GPathogenic
Select item 2071200	NM_001916.5(CYC1):c.301CTC[1] (p.Leu102del)	CYC1 (L102del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2340210	NM_001916.5(CYC1):c.302T>G (p.Leu101Arg)	CYC1 (L101R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2063041	NM_001916.5(CYC1):c.323C>A (p.Thr108Asn)	CYC1 (T108N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 421227	NM_001916.5(CYC1):c.326+7_326+10del	CYC1	Deletion (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 2962323	NM_001916.5(CYC1):c.326+15_326+16insACTG	CYC1	Insertion (intron variant)	not provided	GLikely benign
Select item 681927	NM_001916.5(CYC1):c.327-4C>G	CYC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2276719	NM_001916.5(CYC1):c.357G>C (p.Gln119His)	CYC1 (Q119H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 380168	NM_001916.5(CYC1):c.444G>C (p.Leu148=)	CYC1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 515732	NM_001916.5(CYC1):c.450G>A (p.Ala150=)	CYC1, LOC130001365	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 389791	NM_001916.5(CYC1):c.454-9C>T	CYC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1573007	NM_001916.5(CYC1):c.454-7del	CYC1	Deletion (intron variant)	CYC1-related disorder +1 more	GLikely benign
Select item 1209419	NM_001916.5(CYC1):c.456_461dupGGAGGT	CYC1	Duplication (splice acceptor variant)	not provided	GLikely benign
Select item 2148294	NM_001916.5(CYC1):c.476A>G (p.Asn159Ser)	CYC1 (N159S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2658968	NM_001916.5(CYC1):c.486G>C (p.Gly162=)	CYC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1940694	NM_001916.5(CYC1):c.511C>T (p.Leu171=)	CYC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1940739	NM_001916.5(CYC1):c.516C>T (p.Phe172=)	CYC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2422103	NM_001916.5(CYC1):c.517G>A (p.Asp173Asn)	CYC1 (D173N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 593227	NM_001916.5(CYC1):c.547G>A (p.Glu183Lys)	CYC1 (E183K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2303188	NM_001916.5(CYC1):c.554C>T (p.Ala185Val)	CYC1 (A185V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 681465	NM_001916.5(CYC1):c.582C>G (p.Pro194=)	CYC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1954189	NM_001916.5(CYC1):c.596A>T (p.Tyr199Phe)	CYC1 (Y199F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968882	NM_001916.5(CYC1):c.597C>T (p.Tyr199=)	CYC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1932244	NM_001916.5(CYC1):c.603G>A (p.Val201=)	CYC1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2958961	NM_001916.5(CYC1):c.611+15C>T	CYC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2791912	NM_001916.5(CYC1):c.612-16A>G	CYC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 235748	NM_001916.5(CYC1):c.613C>T (p.His205Tyr)	CYC1 (H205Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3079302	NM_001916.5(CYC1):c.617G>A (p.Gly206Asp)	CYC1 (G206D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2051142	NM_001916.5(CYC1):c.625G>A (p.Asp209Asn)	CYC1 (D209N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2417536	NM_001916.5(CYC1):c.630C>T (p.Tyr210=)	CYC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899535	NM_001916.5(CYC1):c.631G>A (p.Val211Ile)	CYC1 (V211I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2265985	NM_001916.5(CYC1):c.638C>T (p.Ser213Phe)	CYC1 (S213F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 66020	NM_001916.5(CYC1):c.643C>T (p.Leu215Phe)	CYC1 (L215F)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2068432	NM_001916.5(CYC1):c.648G>A (p.Thr216=)	CYC1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2066727	NM_001916.5(CYC1):c.657C>T (p.Cys219=)	CYC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2168614	NM_001916.5(CYC1):c.669C>T (p.Thr223=)	CYC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2067092	NM_001916.5(CYC1):c.670G>A (p.Gly224Arg)	CYC1 (G224R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 387139	NM_001916.5(CYC1):c.681G>A (p.Leu227=)	CYC1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2200012	NM_001916.5(CYC1):c.683G>A (p.Arg228Gln)	CYC1 (R228Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1442884	NM_001916.5(CYC1):c.688G>A (p.Gly230Ser)	CYC1 (G230S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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