"Baylor Genetics"[submitter] AND "AOPEP"[gene] - ClinVar

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

Search results

Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 565379	NM_000136.3(FANCC):c.1672G>T (p.Val558Phe)	AOPEP, FANCC (V558F)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 234905	NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter)	AOPEP, FANCC (R555*)	Single nucleotide variant (nonsense)	Fanconi anemia +3 more	GConflicting classifications of pathogenicity
Select item 12043	NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro)	AOPEP, FANCC (L554P)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 12047	NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter)	FANCC, AOPEP (R548*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 370412	NM_000136.3(FANCC):c.1628C>A (p.Ser543Ter)	AOPEP, FANCC (S543*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 857945	NM_000136.3(FANCC):c.1533+1G>T	FANCC, AOPEP	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group C +2 more	GConflicting classifications of pathogenicity
Select item 370968	NM_000136.3(FANCC):c.1533+1G>C	AOPEP, FANCC	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group C +2 more	GConflicting classifications of pathogenicity
Select item 2675468	NM_000136.3(FANCC):c.1453del (p.Gln485fs)	AOPEP, FANCC (Q485fs)	Deletion (frameshift variant)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 664629	NM_000136.3(FANCC):c.1430_1431del (p.Thr477fs)	AOPEP, FANCC (T477fs)	Microsatellite (frameshift variant)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
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 578039	NM_000136.3(FANCC):c.1392_1402del (p.Gln465fs)	AOPEP, FANCC (Q465fs)	Deletion (frameshift variant)	Fanconi anemia +2 more	GPathogenic/Likely pathogenic
Select item 182468	NM_000136.3(FANCC):c.1387_1388del (p.Ala464fs)	AOPEP, FANCC (A464fs)	Microsatellite (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1072437	NM_000136.3(FANCC):c.1377_1378del (p.Ser459fs)	AOPEP, FANCC (S459fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 234582	NM_000136.3(FANCC):c.1363G>T (p.Ala455Ser)	AOPEP, FANCC (A455S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group C +4 more	GConflicting classifications of pathogenicity
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 998362	NM_000136.3(FANCC):c.1329+115C>T	FANCC, AOPEP	Single nucleotide variant (intron variant)	Fanconi anemia complementation group C	GUncertain significance
Select item 2675480	NM_000136.3(FANCC):c.1329+1del	AOPEP, FANCC	Deletion (splice donor variant)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 456155	NM_000136.3(FANCC):c.1329+1G>T	AOPEP, FANCC	Single nucleotide variant (splice donor variant)	Fanconi anemia	GLikely pathogenic
Select item 2675474	NM_000136.3(FANCC):c.1308del (p.Arg436fs)	AOPEP, FANCC (R436fs)	Deletion (frameshift variant)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 182467	NM_000136.3(FANCC):c.1302dup (p.Gly435fs)	AOPEP, FANCC (G435fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 3241558	NM_000136.3(FANCC):c.1297del (p.Arg433fs)	AOPEP, FANCC (R433fs)	Deletion (frameshift variant)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 2675475	NM_000136.3(FANCC):c.1271G>A (p.Trp424Ter)	AOPEP, FANCC (W424*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 649717	NM_000136.3(FANCC):c.1257del (p.Thr420fs)	FANCC, AOPEP (T420fs)	Deletion (frameshift variant)	Fanconi anemia complementation group A +2 more	GPathogenic
Select item 182485	NM_000136.3(FANCC):c.1249G>A (p.Glu417Lys)	FANCC, AOPEP (E417K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 3241556	NM_000136.3(FANCC):c.1228del (p.Gln410fs)	AOPEP, FANCC (Q410fs)	Deletion (frameshift variant)	Fanconi anemia complementation group C	GLikely pathogenic
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 1921563	NM_000136.3(FANCC):c.1200dup (p.Gly401fs)	AOPEP, FANCC (G401fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 218427	NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter)	AOPEP, FANCC (G388*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 134296	NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro)	AOPEP, FANCC (S386P)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group C +5 more	GConflicting classifications of pathogenicity
Select item 2675470	NM_000136.3(FANCC):c.1154+1del	AOPEP, FANCC	Deletion (splice donor variant)	Fanconi anemia complementation group C	GPathogenic
Select item 370987	NM_000136.3(FANCC):c.1103_1104del (p.Leu368fs)	AOPEP, FANCC (L368fs)	Deletion (frameshift variant)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 2675477	NM_000136.3(FANCC):c.1092G>A (p.Trp364Ter)	AOPEP, FANCC (W364*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 3241557	NM_000136.3(FANCC):c.1073-2A>G	AOPEP, FANCC	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 1936438	NM_000136.3(FANCC):c.1072+2T>A	AOPEP, FANCC	Single nucleotide variant (splice donor variant)	Fanconi anemia +1 more	GLikely pathogenic
Select item 419252	NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter)	AOPEP, FANCC (Q357*)	Single nucleotide variant (nonsense)	Fanconi anemia +3 more	GPathogenic/Likely pathogenic
Select item 216281	NM_000136.3(FANCC):c.1048A>G (p.Met350Val)	FANCC, AOPEP (M350V)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 422160	NM_000136.3(FANCC):c.1043_1044del (p.Leu348fs)	AOPEP, FANCC (L348fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 219639	NM_000136.3(FANCC):c.998T>C (p.Leu333Pro)	AOPEP, FANCC (L333P)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 949816	NM_000136.3(FANCC):c.996+1_996+2insGA	AOPEP, FANCC	Insertion (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)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 843356	NM_000136.3(FANCC):c.958C>T (p.Gln320Ter)	AOPEP, FANCC (Q320*)	Single nucleotide variant (nonsense)	Fanconi anemia +2 more	GPathogenic/Likely pathogenic
Select item 485554	NM_000136.3(FANCC):c.946C>T (p.Gln316Ter)	AOPEP, FANCC (Q316*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 2675479	NM_000136.3(FANCC):c.907del (p.Leu303fs)	AOPEP, FANCC (L303fs)	Deletion (frameshift variant)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 813469	NM_000136.3(FANCC):c.897-1G>A	AOPEP, FANCC	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 939538	NM_000136.3(FANCC):c.883dup (p.Asp295fs)	AOPEP, FANCC (D295fs)	Duplication (frameshift variant)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 2910228	NM_000136.3(FANCC):c.844-1G>A	AOPEP, FANCC	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group C +1 more	GPathogenic/Likely pathogenic
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 557263	NM_000136.3(FANCC):c.843+1G>C	AOPEP, FANCC	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group C +1 more	GLikely 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 2675481	NM_000136.3(FANCC):c.836C>G (p.Ser279Ter)	AOPEP, FANCC (S279*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 2675478	NM_000136.3(FANCC):c.745_749del (p.Pro248_Ser249insTer)	AOPEP, FANCC	Deletion (nonsense)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 826952	NM_000136.3(FANCC):c.729G>A (p.Trp243Ter)	AOPEP, FANCC (W243*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group C +1 more	GPathogenic
Select item 1359432	NM_000136.3(FANCC):c.705del (p.Met236fs)	AOPEP, FANCC (M236fs)	Deletion (frameshift variant)	Fanconi anemia complementation group C +1 more	GPathogenic/Likely pathogenic
Select item 826669	NM_000136.3(FANCC):c.686+1G>C	AOPEP, FANCC	Single nucleotide variant (splice donor variant)	Fanconi anemia +2 more	GLikely pathogenic
Select item 813470	NM_000136.3(FANCC):c.673G>T (p.Glu225Ter)	AOPEP, FANCC (E225*)	Single nucleotide variant (nonsense)	Fanconi anemia +2 more	GPathogenic
Select item 1341333	NM_000136.3(FANCC):c.643C>T (p.Leu215Phe)	AOPEP, FANCC (L215F)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group C	GUncertain significance
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 998233	NM_000136.3(FANCC):c.583G>C (p.Asp195His)	AOPEP, FANCC (D195H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 12044	NM_000136.3(FANCC):c.553C>T (p.Arg185Ter)	AOPEP, FANCC (R185*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 2675473	NM_000136.3(FANCC):c.547del (p.Leu183fs)	AOPEP, FANCC (L183fs)	Deletion (frameshift variant)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 235535	NM_000136.3(FANCC):c.535C>T (p.Arg179Ter)	AOPEP, FANCC (R179*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 825565	NM_000136.3(FANCC):c.522-1G>C	FANCC, AOPEP	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group C +3 more	GLikely pathogenic

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: 62