"Quest Diagnostics Nichols Institute San Juan Capistrano"[submitter] A - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 415742	NM_000136.3(FANCC):c.1534-5del	AOPEP, FANCC	Deletion (intron variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 234312	NM_000136.3(FANCC):c.1508C>T (p.Thr503Met)	AOPEP, FANCC (T503M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 137285	NM_000136.3(FANCC):c.1485G>A (p.Leu495=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group C +3 more	GBenign/Likely benign
Select item 134299	NM_000136.3(FANCC):c.1414G>A (p.Gly472Arg)	AOPEP, FANCC (G472R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 134297	NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg)	AOPEP, FANCC (Q465R)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 234582	NM_000136.3(FANCC):c.1363G>T (p.Ala455Ser)	AOPEP, FANCC (A455S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 134298	NM_000136.3(FANCC):c.1345G>A (p.Val449Met)	FANCC, AOPEP (V449M)	Single nucleotide variant (missense variant)	Fanconi anemia +4 more	GBenign
Select item 210976	NM_000136.3(FANCC):c.1330-3C>T	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia complementation group C +4 more	GBenign/Likely benign
Select item 182486	NM_000136.3(FANCC):c.1316G>A (p.Arg439Lys)	AOPEP, FANCC (R439K)	Single nucleotide variant (missense variant)	Fanconi anemia +4 more	GUncertain significance
Select item 456153	NM_000136.3(FANCC):c.1275C>G (p.Leu425=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group A +3 more	GConflicting classifications of pathogenicity
Select item 449129	NM_000136.3(FANCC):c.1259C>T (p.Thr420Met)	AOPEP, FANCC (T420M)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group C +4 more	GUncertain significance
Select item 652771	NM_000136.3(FANCC):c.1241C>T (p.Ser414Leu)	AOPEP, FANCC (S414L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 220210	NM_000136.3(FANCC):c.1162G>A (p.Gly388Arg)	AOPEP, FANCC (G388R)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 419389	NM_000136.3(FANCC):c.1159T>C (p.Cys387Arg)	AOPEP, FANCC (C387R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 134296	NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro)	AOPEP, FANCC (S386P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 216281	NM_000136.3(FANCC):c.1048A>G (p.Met350Val)	AOPEP, FANCC (M350V)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1152569	NM_000136.3(FANCC):c.996+9T>C	AOPEP, FANCC	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 220261	NM_000136.3(FANCC):c.993G>A (p.Lys331=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Fanconi anemia +3 more	GLikely benign
Select item 127551	NM_000136.3(FANCC):c.974C>T (p.Ala325Val)	AOPEP, FANCC (A325V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group C +4 more	GUncertain significance
Select item 823438	NM_000136.3(FANCC):c.972A>G (p.Glu324=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 127548	NM_000136.3(FANCC):c.934A>G (p.Ile312Val)	AOPEP, FANCC (I312V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group C +5 more	GConflicting classifications of pathogenicity
Select item 456173	NM_000136.3(FANCC):c.916G>A (p.Asp306Asn)	AOPEP, FANCC (D306N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 377846	NM_000136.3(FANCC):c.896+6C>T	AOPEP, FANCC	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2157701	NM_000136.3(FANCC):c.880G>A (p.Val294Ile)	AOPEP, FANCC (V294I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2681917	NM_000136.3(FANCC):c.867_868insT (p.Ile290fs)	AOPEP, FANCC (I290fs)	Insertion (frameshift variant)	not provided	GLikely pathogenic
Select item 216291	NM_000136.3(FANCC):c.843+5G>A	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia complementation group C +4 more	GConflicting classifications of pathogenicity
Select item 220920	NM_000136.3(FANCC):c.843+4C>T	AOPEP, FANCC	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 219885	NM_000136.3(FANCC):c.823T>C (p.Phe275Leu)	AOPEP, FANCC (F275L)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GUncertain significance
Select item 182478	NM_000136.3(FANCC):c.800A>G (p.Asn267Ser)	AOPEP, FANCC (N267S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 220568	NM_000136.3(FANCC):c.790A>G (p.Ser264Gly)	AOPEP, FANCC (S264G)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 409655	NM_000136.3(FANCC):c.770T>C (p.Leu257Pro)	AOPEP, FANCC (L257P)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 420182	NM_000136.3(FANCC):c.745A>G (p.Ser249Gly)	AOPEP, FANCC (S249G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 1757431	NM_000136.3(FANCC):c.715G>A (p.Val239Ile)	AOPEP, FANCC (V239I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 216290	NM_000136.3(FANCC):c.668T>C (p.Val223Ala)	AOPEP, FANCC (V223A)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1128808	NM_000136.3(FANCC):c.642C>A (p.Ile214=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Fanconi anemia +2 more	GLikely benign
Select item 127544	NM_000136.3(FANCC):c.632C>G (p.Pro211Arg)	AOPEP, FANCC (P211R)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 418764	NM_000136.3(FANCC):c.625C>T (p.Arg209Cys)	AOPEP, FANCC (R209C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 134305	NM_000136.3(FANCC):c.584A>T (p.Asp195Val)	AOPEP, FANCC (D195V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 2450919	NM_000136.3(FANCC):c.562G>A (p.Val188Ile)	AOPEP, FANCC (V188I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 182472	NM_000136.3(FANCC):c.554G>A (p.Arg185Gln)	AOPEP, FANCC (R185Q)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +5 more	GConflicting classifications of pathogenicity
Select item 127543	NM_000136.3(FANCC):c.542C>T (p.Ala181Val)	AOPEP, FANCC (A181V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 409660	NM_000136.3(FANCC):c.509A>G (p.Asn170Ser)	FANCC (N170S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group C +3 more	GUncertain significance
Select item 1330136	NM_000136.3(FANCC):c.495T>C (p.His165=)	FANCC	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 234311	NM_000136.3(FANCC):c.472G>C (p.Ala158Pro)	FANCC (A158P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1741614	NM_000136.3(FANCC):c.457A>G (p.Met153Val)	FANCC (M153V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1809557	NM_000136.3(FANCC):c.457-4A>G	FANCC	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 12045	NM_000136.3(FANCC):c.456+4A>T	FANCC	Single nucleotide variant (intron variant)	Fanconi anemia complementation group C +3 more	GPathogenic
Select item 456163	NM_000136.3(FANCC):c.436_438del (p.Tyr146del)	FANCC (Y146del)	Deletion (inframe_deletion)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 134304	NM_000136.3(FANCC):c.416G>A (p.Gly139Glu)	FANCC (G139E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 255275	NM_000136.3(FANCC):c.408A>G (p.Gln136=)	FANCC	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 127540	NM_000136.3(FANCC):c.355_360delinsA (p.Ser119fs)	FANCC (S119fs)	Indel (frameshift variant)	Fanconi anemia complementation group C +4 more	GPathogenic
Select item 237071	NM_000136.3(FANCC):c.345+4AG[2]	FANCC	Microsatellite (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 127539	NM_000136.3(FANCC):c.345+6A>T	FANCC	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 456161	NM_000136.3(FANCC):c.329T>C (p.Leu110Pro)	FANCC (L110P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 220742	NM_000136.3(FANCC):c.248A>G (p.Tyr83Cys)	FANCC (Y83C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 418955	NM_000136.3(FANCC):c.233C>A (p.Pro78His)	FANCC (P78H)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 818979	NM_000136.3(FANCC):c.133C>T (p.Leu45=)	FANCC	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 134301	NM_000136.3(FANCC):c.77C>T (p.Ser26Phe)	FANCC (S26F)	Single nucleotide variant (missense variant)	Fanconi anemia +6 more	GConflicting classifications of pathogenicity
Select item 12049	NM_000136.3(FANCC):c.67del (p.Asp23fs)	FANCC (D23fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 216287	NM_000136.3(FANCC):c.28T>G (p.Cys10Gly)	FANCC (C10G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1808833	GRCh37/hg19 9q22.31-22.32(chr9:95711603-98469214)x1	AOPEP, BARX1 +22 more	Copy number loss	not provided	GPathogenic
Select item 1340456	GRCh37/hg19 9q22.32(chr9:97678918-98785455)x3	AOPEP, ERCC6L2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 563665	GRCh37/hg19 9q22.32(chr9:97698177-98849150)x1	PTCH1, MIR23B +5 more	Copy number loss	not provided	GPathogenic

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Items: 63