C3468041[trait identifier] AND "Leiden Open Variation Database"[submit - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 367607	NM_000136.3(FANCC):c.*116A>C	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C +1 more	GBenign
Select item 255272	NM_000136.3(FANCC):c.*42G>A	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 12043	NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro)	AOPEP, FANCC (L554P)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group C +4 more	GPathogenic/Likely pathogenic
Select item 12047	NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter)	AOPEP, FANCC (R548*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group C +3 more	GPathogenic/Likely pathogenic
Select item 929819	NM_000136.3(FANCC):c.1598_1599insAG (p.Trp533Ter)	FANCC, AOPEP (W533*)	Insertion (nonsense)	Fanconi anemia complementation group C	GPathogenic
Select item 929818	NM_000136.3(FANCC):c.1550dup (p.Ile518fs)	AOPEP, FANCC (I518fs)	Duplication (frameshift variant)	Fanconi anemia complementation group C	GPathogenic
Select item 929817	NM_000136.3(FANCC):c.1494T>G (p.Ala498=)	FANCC, AOPEP	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group C	GPathogenic
Select item 551836	NM_000136.3(FANCC):c.1417C>T (p.Gln473Ter)	AOPEP, FANCC (Q473*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 134297	NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg)	AOPEP, FANCC (Q465R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +5 more	GBenign/Likely benign
Select item 584737	NM_000136.3(FANCC):c.1393C>T (p.Gln465Ter)	AOPEP, FANCC (Q465*)	Single nucleotide variant (nonsense)	Fanconi anemia +1 more	GPathogenic
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 370186	NM_000136.3(FANCC):c.1333C>T (p.Gln445Ter)	FANCC, AOPEP (Q445*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 182485	NM_000136.3(FANCC):c.1249G>A (p.Glu417Lys)	AOPEP, FANCC (E417K)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 929816	NM_000136.3(FANCC):c.1208G>A (p.Trp403Ter)	AOPEP, FANCC (W403*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 929815	NM_000136.3(FANCC):c.1155-1G>C	AOPEP, FANCC	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GLikely pathogenic
Select item 555274	NM_000136.3(FANCC):c.996+1G>A	AOPEP, FANCC	Single nucleotide variant (splice donor variant)	Fanconi anemia +2 more	GLikely pathogenic
Select item 929811	NM_000136.3(FANCC):c.996G>A (p.Gln332=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 127548	NM_000136.3(FANCC):c.934A>G (p.Ile312Val)	AOPEP, FANCC (I312V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 189053	NM_000136.3(FANCC):c.844-1G>C	AOPEP, FANCC	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 127547	NM_000136.3(FANCC):c.843+1G>A	FANCC, AOPEP	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group C +2 more	GPathogenic/Likely pathogenic
Select item 137277	NM_000136.3(FANCC):c.816C>T (p.Ile272=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 182476	NM_000136.3(FANCC):c.767A>G (p.His256Arg)	AOPEP, FANCC (H256R)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 137276	NM_000136.3(FANCC):c.705C>T (p.Pro235=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Fanconi anemia +4 more	GConflicting classifications of pathogenicity
Select item 929808	NM_000136.3(FANCC):c.662del (p.Glu221fs)	AOPEP, FANCC (E221fs)	Deletion (frameshift variant)	Fanconi anemia complementation group C	GPathogenic
Select item 127544	NM_000136.3(FANCC):c.632C>G (p.Pro211Arg)	FANCC, AOPEP (P211R)	Single nucleotide variant (missense variant)	Fanconi anemia +5 more	GConflicting classifications of pathogenicity
Select item 134305	NM_000136.3(FANCC):c.584A>T (p.Asp195Val)	AOPEP, FANCC (D195V)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 929800	NM_000136.3(FANCC):c.568C>T (p.Leu190Phe)	AOPEP, FANCC (L190F)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 237074	NM_000136.3(FANCC):c.521+1G>A	FANCC	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 189022	NM_000136.3(FANCC):c.520C>T (p.Arg174Ter)	FANCC (R174*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group C +3 more	GPathogenic/Likely pathogenic
Select item 216037	NM_000136.3(FANCC):c.489_490del (p.Asn164fs)	FANCC (N164fs)	Microsatellite (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 182465	NM_000136.3(FANCC):c.487_490del (p.Glu163fs)	FANCC (E163fs)	Microsatellite (frameshift variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 929799	NM_000136.3(FANCC):c.467del (p.Ser156fs)	FANCC (S156fs)	Deletion (frameshift variant)	Fanconi anemia complementation group C	GPathogenic
Select item 12045	NM_000136.3(FANCC):c.456+4A>T	FANCC	Single nucleotide variant (intron variant)	Fanconi anemia +3 more	GPathogenic
Select item 409657	NM_000136.3(FANCC):c.455dup (p.Asn152fs)	FANCC (N152fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 134304	NM_000136.3(FANCC):c.416G>A (p.Gly139Glu)	FANCC (G139E)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 255275	NM_000136.3(FANCC):c.408A>G (p.Gln136=)	FANCC	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group C +4 more	GBenign
Select item 633205	NM_000136.3(FANCC):c.377_378del (p.Arg126fs)	FANCC (R126fs)	Deletion (frameshift variant)	Fanconi anemia complementation group C +2 more	GPathogenic/Likely pathogenic
Select item 417933	NM_000136.3(FANCC):c.356_360del (p.Ser119fs)	FANCC (S119fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 127540	NM_000136.3(FANCC):c.355_360delinsA (p.Ser119fs)	FANCC (S119fs)	Indel (frameshift variant)	Fanconi anemia +3 more	GPathogenic
Select item 522633	NM_000136.3(FANCC):c.346-1G>A	FANCC	Single nucleotide variant (splice acceptor variant)	Fanconi anemia +4 more	GPathogenic/Likely pathogenic
Select item 823708	NM_000136.3(FANCC):c.338G>A (p.Trp113Ter)	FANCC (W113*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 929803	NM_000136.3(FANCC):c.166-620_250+3083delinsAACTAAATTTACTTTTT	FANCC	Indel (splice acceptor variant +1 more)	Fanconi anemia complementation group C	GPathogenic
Select item 127537	NM_000136.3(FANCC):c.178G>A (p.Val60Ile)	FANCC (V60I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 12051	NM_000136.3(FANCC):c.165+1G>T	FANCC	Single nucleotide variant (splice donor variant)	Fanconi anemia +2 more	GPathogenic
Select item 134301	NM_000136.3(FANCC):c.77C>T (p.Ser26Phe)	FANCC (S26F)	Single nucleotide variant (missense variant)	Fanconi anemia +5 more	GConflicting classifications of pathogenicity
Select item 188926	NM_000136.3(FANCC):c.65G>A (p.Trp22Ter)	FANCC (W22*)	Single nucleotide variant (nonsense)	FANCC-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 12046	NM_000136.3(FANCC):c.37C>T (p.Gln13Ter)	FANCC (Q13*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 929802	NM_000136.3(FANCC):c.8_9del (p.Gln3fs)	FANCC (Q3fs)	Deletion (frameshift variant)	Fanconi anemia complementation group C	GPathogenic
Select item 929797	NM_000136.3(FANCC):c.-262_-79+3686del	FANCC, LOC130002128	Deletion (splice donor variant)	Fanconi anemia complementation group C	GPathogenic
Select item 932965	NC_000009.12:g.95314147_95322646del	LOC130002128, FANCC	Deletion (genic upstream transcript variant)	Fanconi anemia complementation group C	GUncertain significance
Select item 929805	NC_000009.12:g.(95172148_95240648)_(95240744_95247431)del	FANCC	Deletion	Fanconi anemia complementation group C	GPathogenic
Select item 929801	NC_000009.12:g.(95240744_95247431)_(95317709_?)del	FANCC	Deletion	Fanconi anemia complementation group C	GPathogenic

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Items: 52