C3468041[trait identifier] AND "Women's Health and Genetics/Laboratory - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 383837	NM_000136.3(FANCC):c.1560C>T (p.His520=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 12048	NM_000136.3(FANCC):c.1555dup (p.Thr519fs)	AOPEP, FANCC (T519fs)	Duplication (frameshift variant)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
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 857945	NM_000136.3(FANCC):c.1533+1G>T	AOPEP, FANCC	Single nucleotide variant (splice donor variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 182501	NM_000136.3(FANCC):c.1509G>A (p.Thr503=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Fanconi anemia +4 more	GConflicting classifications of pathogenicity
Select item 220345	NM_000136.3(FANCC):c.1494T>C (p.Ala498=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 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 234504	NM_000136.3(FANCC):c.1425A>G (p.Thr475=)	FANCC, AOPEP	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely 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 419042	NM_000136.3(FANCC):c.1406C>T (p.Thr469Met)	FANCC, AOPEP (T469M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
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 584737	NM_000136.3(FANCC):c.1393C>T (p.Gln465Ter)	AOPEP, FANCC (Q465*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group C +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 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 182467	NM_000136.3(FANCC):c.1302dup (p.Gly435fs)	AOPEP, FANCC (G435fs)	Duplication (frameshift variant)	Fanconi anemia +3 more	GPathogenic/Likely pathogenic
Select item 418852	NM_000136.3(FANCC):c.1244C>T (p.Ala415Val)	AOPEP, FANCC (A415V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 218427	NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter)	AOPEP, FANCC (G388*)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic/Likely pathogenic
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 929815	NM_000136.3(FANCC):c.1155-1G>C	AOPEP, FANCC	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GLikely pathogenic
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 555274	NM_000136.3(FANCC):c.996+1G>A	AOPEP, FANCC	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group C +2 more	GLikely pathogenic
Select item 265137	NM_000136.3(FANCC):c.996+1G>T	AOPEP, FANCC	Single nucleotide variant (splice donor variant)	Fanconi anemia +3 more	GPathogenic/Likely pathogenic
Select item 127550	NM_000136.3(FANCC):c.973G>A (p.Ala325Thr)	FANCC, AOPEP (A325T)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group C +5 more	GBenign/Likely benign
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 189053	NM_000136.3(FANCC):c.844-1G>C	AOPEP, FANCC	Single nucleotide variant (splice acceptor variant)	FANCC-related condition +4 more	GPathogenic/Likely 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 127547	NM_000136.3(FANCC):c.843+1G>A	AOPEP, FANCC	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group C +2 more	GPathogenic/Likely pathogenic
Select item 526320	NM_000136.3(FANCC):c.835T>A (p.Ser279Thr)	AOPEP, FANCC (S279T)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 182480	NM_000136.3(FANCC):c.817G>A (p.Glu273Lys)	AOPEP, FANCC (E273K)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 137277	NM_000136.3(FANCC):c.816C>T (p.Ile272=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 182477	NM_000136.3(FANCC):c.792T>G (p.Ser264Arg)	AOPEP, FANCC (S264R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 182476	NM_000136.3(FANCC):c.767A>G (p.His256Arg)	AOPEP, FANCC (H256R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group C +4 more	GUncertain significance
Select item 234480	NM_000136.3(FANCC):c.748C>A (p.Leu250Ile)	AOPEP, FANCC (L250I)	Single nucleotide variant (missense variant)	Fanconi anemia +4 more	GUncertain significance
Select item 137276	NM_000136.3(FANCC):c.705C>T (p.Pro235=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 137275	NM_000136.3(FANCC):c.672C>T (p.Asn224=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group C +3 more	GConflicting classifications of pathogenicity
Select item 219714	NM_000136.3(FANCC):c.609C>T (p.Leu203=)	FANCC, AOPEP	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 572599	NM_000136.3(FANCC):c.572T>C (p.Ile191Thr)	AOPEP, FANCC (I191T)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group C +3 more	GUncertain significance
Select item 929800	NM_000136.3(FANCC):c.568C>T (p.Leu190Phe)	AOPEP, FANCC (L190F)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GUncertain significance
Select item 216289	NM_000136.3(FANCC):c.565C>G (p.Pro189Ala)	AOPEP, FANCC (P189A)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GUncertain significance
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 12044	NM_000136.3(FANCC):c.553C>T (p.Arg185Ter)	AOPEP, FANCC (R185*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group C +3 more	GPathogenic
Select item 237074	NM_000136.3(FANCC):c.521+1G>A	FANCC	Single nucleotide variant (splice donor variant)	FANCC-related condition +4 more	GPathogenic/Likely pathogenic
Select item 189022	NM_000136.3(FANCC):c.520C>T (p.Arg174Ter)	FANCC (R174*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 1705209	NM_000136.3(FANCC):c.514C>T (p.Gln172Ter)	FANCC (Q172*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 216037	NM_000136.3(FANCC):c.489_490del (p.Asn164fs)	FANCC (N164fs)	Microsatellite (frameshift variant)	Fanconi anemia complementation group C +2 more	GPathogenic/Likely pathogenic
Select item 182465	NM_000136.3(FANCC):c.487_490del (p.Glu163fs)	FANCC (E163fs)	Microsatellite (frameshift variant)	Fanconi anemia +3 more	GPathogenic/Likely pathogenic
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 409657	NM_000136.3(FANCC):c.455dup (p.Asn152fs)	FANCC (N152fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +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 127541	NM_000136.3(FANCC):c.395C>G (p.Ala132Gly)	FANCC (A132G)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group C +5 more	GConflicting classifications of pathogenicity
Select item 633205	NM_000136.3(FANCC):c.377_378del (p.Arg126fs)	FANCC (R126fs)	Deletion (frameshift variant)	Fanconi anemia +2 more	GPathogenic/Likely pathogenic
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 182497	NM_000136.3(FANCC):c.319C>T (p.Gln107Ter)	FANCC (Q107*)	Single nucleotide variant (nonsense)	Fanconi anemia +3 more	GPathogenic/Likely pathogenic
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 127537	NM_000136.3(FANCC):c.178G>A (p.Val60Ile)	FANCC (V60I)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group C +6 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 188926	NM_000136.3(FANCC):c.65G>A (p.Trp22Ter)	FANCC (W22*)	Single nucleotide variant (nonsense)	FANCC-related condition +3 more	GPathogenic/Likely pathogenic
Select item 583038	NM_000136.3(FANCC):c.46A>G (p.Met16Val)	FANCC (M16V)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 12046	NM_000136.3(FANCC):c.37C>T (p.Gln13Ter)	FANCC (Q13*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 127538	NM_000136.3(FANCC):c.29G>A (p.Cys10Tyr)	FANCC (C10Y)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group C +4 more	GConflicting classifications of pathogenicity
Select item 632544	NM_000136.3(FANCC):c.3G>A (p.Met1Ile)	FANCC (M1I)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia +3 more	GConflicting classifications of pathogenicity
Select item 2501040	NC_000009.11:g.(97873920_97876910)_(97879673_97887367)del	FANCC	Deletion	Fanconi anemia complementation group C	GLikely pathogenic
Select item 1804649	NC_000009.11:g.(97873920_97876910)_(97934430_98002930)dup	FANCC	Duplication	Fanconi anemia complementation group C	GLikely pathogenic
Select item 1339717	NC_000009.11:g.(97864133_97869347)_(97869552_97873744)del	FANCC	Deletion	Fanconi anemia complementation group C	GLikely pathogenic

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Items: 72