"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "CYC1"[g - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1900186	NM_001916.5(CYC1):c.11C>T (p.Ala4Val)	CYC1 (A4V)	Single nucleotide variant (missense variant)	Mitochondrial complex III deficiency nuclear type 6 +2 more	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 provided +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	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)	Mitochondrial complex III deficiency nuclear type 6 +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 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 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)	not provided	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 2071200	NM_001916.5(CYC1):c.301CTC[1] (p.Leu102del)	CYC1 (L102del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2063041	NM_001916.5(CYC1):c.323C>A (p.Thr108Asn)	CYC1 (T108N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 421227	NM_001916.5(CYC1):c.326+7_326+10del	CYC1	Deletion (intron variant)	not provided +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 380168	NM_001916.5(CYC1):c.444G>C (p.Leu148=)	CYC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 515732	NM_001916.5(CYC1):c.450G>A (p.Ala150=)	LOC130001365, CYC1	Single nucleotide variant (synonymous variant)	not provided	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)	not provided	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 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 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 specified +1 more	GUncertain significance
Select item 2051142	NM_001916.5(CYC1):c.625G>A (p.Asp209Asn)	CYC1 (D209N)	Single nucleotide variant (missense variant)	not specified +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 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 specified +1 more	GUncertain significance
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
Select item 1567205	NM_001916.5(CYC1):c.711T>C (p.Phe237=)	CYC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1927607	NM_001916.5(CYC1):c.727G>A (p.Ala243Thr)	CYC1 (A243T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2765196	NM_001916.5(CYC1):c.772+7G>A	CYC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1898780	NM_001916.5(CYC1):c.772+15G>A	CYC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966403	NM_001916.5(CYC1):c.772+19G>C	CYC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 418884	NM_001916.5(CYC1):c.772+19_772+45del	CYC1	Deletion (intron variant)	not provided +1 more	GLikely benign
Select item 2973561	NM_001916.5(CYC1):c.773-18C>T	CYC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1634658	NM_001916.5(CYC1):c.773-18C>G	CYC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2184102	NM_001916.5(CYC1):c.798A>C (p.Ile266=)	CYC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2777886	NM_001916.5(CYC1):c.810G>A (p.Val270=)	CYC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963816	NM_001916.5(CYC1):c.824G>A (p.Arg275His)	CYC1 (R275H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001473	NM_001916.5(CYC1):c.854G>A (p.Arg285Gln)	CYC1 (R285Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2988332	NM_001916.5(CYC1):c.860G>A (p.Arg287His)	CYC1 (R287H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1626966	NM_001916.5(CYC1):c.867G>A (p.Gly289=)	CYC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 389380	NM_001916.5(CYC1):c.873+7G>A	CYC1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 2982222	NM_001916.5(CYC1):c.873+14G>A	CYC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011880	NM_001916.5(CYC1):c.874-19G>A	CYC1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2018174	NM_001916.5(CYC1):c.874-5T>C	CYC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1932678	NM_001916.5(CYC1):c.922C>T (p.Arg308Trp)	CYC1 (R308W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1448997	NM_001916.5(CYC1):c.923G>A (p.Arg308Gln)	CYC1 (R308Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 752761	NM_001916.5(CYC1):c.960A>T (p.Ala320=)	CYC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 381403	NM_001916.5(CYC1):c.960A>C (p.Ala320=)	CYC1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1454990	NC_000008.10:g.(?_144295143)_(145701139_?)del	ADCK5, BOP1 +52 more	Deletion	Epidermolysis bullosa simplex 5C, with pyloric atresia +5 more	GPathogenic
Select item 1411704	NC_000008.10:g.(?_143822561)_(145743168_?)dup	ADCK5, BOP1 +66 more	Duplication	Holoprosencephaly sequence	GUncertain significance
Select item 1004495	NC_000008.10:g.(?_145047561)_(145701149_?)dup	TONSL, VPS28 +27 more	Duplication	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 665049	NC_000008.10:g.(?_144990335)_(145701149_?)dup	ADCK5, BOP1 +28 more	Duplication	Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more	GUncertain significance
Select item 652960	NC_000008.10:g.(?_144990325)_(145700664_?)dup	ADCK5, BOP1 +28 more	Duplication	Brown-Vialetto-van Laere syndrome 2	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 82