ClinVar for MedGen (Select 483324) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2675480	NM_000136.3(FANCC):c.1329+1del	AOPEP, FANCC	Deletion (splice donor variant)	Fanconi anemia complementation group C	GLikely 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 2675478	NM_000136.3(FANCC):c.745_749del (p.Pro248_Ser249insTer)	AOPEP, FANCC	Deletion (nonsense)	Fanconi anemia complementation group C	GLikely 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 2675476	NM_000136.3(FANCC):c.346-1G>C	FANCC	Single nucleotide variant (splice acceptor 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 2675474	NM_000136.3(FANCC):c.1308del (p.Arg436fs)	AOPEP, FANCC (R436fs)	Deletion (frameshift variant)	Fanconi anemia complementation group C	GLikely pathogenic
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 2675472	NM_000136.3(FANCC):c.457-2A>G	FANCC	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 2675471	NM_000136.3(FANCC):c.387_390del (p.Glu130fs)	FANCC (E130fs)	Deletion (frameshift variant)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 2675470	NM_000136.3(FANCC):c.1154+1del	AOPEP, FANCC	Deletion (splice donor variant)	Fanconi anemia complementation group C	GPathogenic
Select item 2675469	NM_000136.3(FANCC):c.125dup (p.Glu43fs)	FANCC (E43fs)	Duplication (frameshift variant)	Fanconi anemia complementation group C	GLikely pathogenic
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 2675467	NM_000136.3(FANCC):c.169del (p.Ser57fs)	FANCC (S57fs)	Deletion (frameshift variant)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 2675465	NM_000136.3(FANCC):c.163del (p.Met55fs)	FANCC (M55fs)	Deletion (frameshift variant)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 2593008	NM_000136.3(FANCC):c.1114T>C (p.Ser372Pro)	AOPEP, FANCC (S372P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2580961	NM_000136.3(FANCC):c.406C>T (p.Gln136Ter)	FANCC (Q136*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 2501040	NC_000009.11:g.(97873920_97876910)_(97879673_97887367)del	FANCC	Deletion	Fanconi anemia complementation group C	GLikely pathogenic
Select item 2498209	NM_022836.4(DCLRE1B):c.807C>T (p.His269=)	DCLRE1B	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group C	GPathogenic
Select item 2498208	NM_022836.4(DCLRE1B):c.248A>G (p.Asp83Gly)	DCLRE1B (D83G)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group C	GPathogenic
Select item 2446385	NM_000136.3(FANCC):c.591C>A (p.Asp197Glu)	AOPEP, FANCC (D197E)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group C	GUncertain significance
Select item 2440216	NM_000136.3(FANCC):c.124C>T (p.Gln42Ter)	FANCC (Q42*)	Single nucleotide variant (nonsense)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 2136788	NM_000136.3(FANCC):c.276G>A (p.Trp92Ter)	FANCC (W92*)	Single nucleotide variant (nonsense)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 1921563	NM_000136.3(FANCC):c.1200dup (p.Gly401fs)	AOPEP, FANCC (G401fs)	Duplication (frameshift variant)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 1804649	NC_000009.11:g.(97873920_97876910)_(97934430_98002930)dup	FANCC	Duplication	Fanconi anemia complementation group C	GLikely pathogenic
Select item 1777147	NM_000136.3(FANCC):c.1645G>C (p.Glu549Gln)	AOPEP, FANCC (E549Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1726201	NM_000136.3(FANCC):c.560del (p.Cys187fs)	AOPEP, FANCC (C187fs)	Deletion (frameshift variant)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 1725927	NM_000136.3(FANCC):c.225T>A (p.Cys75Ter)	FANCC (C75*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 1725275	NM_000136.3(FANCC):c.282_283del (p.Cys95fs)	FANCC (C95fs)	Deletion (frameshift variant)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 1724967	NM_000136.3(FANCC):c.683dup (p.Leu228fs)	AOPEP, FANCC (L228fs)	Duplication (frameshift variant)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 1724718	NM_000136.3(FANCC):c.315_316insCCCG (p.Gly106fs)	FANCC (G106fs)	Insertion (frameshift variant)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 1724510	NM_000136.3(FANCC):c.249T>A (p.Tyr83Ter)	FANCC (Y83*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 1724483	NM_000136.3(FANCC):c.1029C>G (p.Tyr343Ter)	AOPEP, FANCC (Y343*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 1724060	NM_000136.3(FANCC):c.822C>A (p.Cys274Ter)	AOPEP, FANCC (C274*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group C	GLikely 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 1685809	NM_000136.3(FANCC):c.259C>T (p.Gln87Ter)	FANCC (Q87*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group C	GPathogenic
Select item 1685808	NM_000136.3(FANCC):c.1653dup (p.Lys552Ter)	AOPEP, FANCC (K552*)	Duplication (nonsense)	Fanconi anemia complementation group C	GPathogenic
Select item 1664645	NM_000136.3(FANCC):c.165+17A>G	FANCC	Single nucleotide variant (intron variant)	Fanconi anemia +1 more	GLikely benign
Select item 1615581	NM_000136.3(FANCC):c.843+12G>A	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia +1 more	GLikely benign
Select item 1588889	NM_000136.3(FANCC):c.896+14T>C	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia +1 more	GLikely benign
Select item 1468966	NM_000136.3(FANCC):c.1252C>T (p.Pro418Ser)	AOPEP, FANCC (P418S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1386661	NM_000136.3(FANCC):c.284_293del (p.Cys95fs)	FANCC (C95fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1382017	NM_000136.3(FANCC):c.391G>A (p.Val131Ile)	FANCC (V131I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1359432	NM_000136.3(FANCC):c.705del (p.Met236fs)	AOPEP, FANCC (M236fs)	Deletion (frameshift variant)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
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 1339717	NC_000009.11:g.(97864133_97869347)_(97869552_97873744)del	FANCC	Deletion	Fanconi anemia complementation group C	GLikely pathogenic
Select item 1324376	NM_000136.3(FANCC):c.2T>C (p.Met1Thr)	FANCC (M1T)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 1322874	NM_000136.3(FANCC):c.1002del (p.Phe335fs)	AOPEP, FANCC (F335fs)	Deletion (frameshift variant)	Fanconi anemia complementation group C	GPathogenic
Select item 1319512	NM_000136.3(FANCC):c.14C>T (p.Ser5Leu)	FANCC (S5L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1300396	NM_000136.3(FANCC):c.491A>C (p.Asn164Thr)	FANCC (N164T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1224541	NM_000136.3(FANCC):c.70C>T (p.Gln24Ter)	FANCC (Q24*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1214876	NM_000136.3(FANCC):c.917A>T (p.Asp306Val)	AOPEP, FANCC (D306V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 1177025	NM_000136.3(FANCC):c.521+109A>G	FANCC	Single nucleotide variant (intron variant)	Fanconi anemia complementation group C +1 more	GBenign
Select item 1141026	NM_000136.3(FANCC):c.1503C>T (p.Gly501=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 1073535	NM_000136.3(FANCC):c.460del (p.Val154fs)	FANCC (V154fs)	Deletion (frameshift variant)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 1072437	NM_000136.3(FANCC):c.1377_1378del (p.Ser459fs)	AOPEP, FANCC (S459fs)	Deletion (frameshift variant)	Fanconi anemia complementation group C +2 more	GPathogenic/Likely pathogenic
Select item 1048979	NM_000136.3(FANCC):c.1533+13G>A	AOPEP, FANCC	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1036638	NM_000136.3(FANCC):c.293T>C (p.Ile98Thr)	FANCC (I98T)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1017642	NM_000136.3(FANCC):c.1355A>G (p.His452Arg)	AOPEP, FANCC (H452R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1014542	NM_000136.3(FANCC):c.734G>A (p.Arg245Gln)	AOPEP, FANCC (R245Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1000689	NM_000136.3(FANCC):c.1136T>C (p.Val379Ala)	AOPEP, FANCC (V379A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
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 998233	NM_000136.3(FANCC):c.583G>C (p.Asp195His)	AOPEP, FANCC (D195H)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group C +2 more	GUncertain significance
Select item 990705	NM_000136.3(FANCC):c.665C>A (p.Ala222Asp)	AOPEP, FANCC (A222D)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 984291	NM_000136.3(FANCC):c.464T>A (p.Leu155Ter)	FANCC (L155*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 984290	NM_000136.3(FANCC):c.661G>T (p.Glu221Ter)	AOPEP, FANCC (E221*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 984289	NM_000136.3(FANCC):c.793G>T (p.Glu265Ter)	AOPEP, FANCC (E265*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 984288	NM_000136.3(FANCC):c.1029C>A (p.Tyr343Ter)	AOPEP, FANCC (Y343*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 984287	NM_000136.3(FANCC):c.1084G>T (p.Gly362Ter)	AOPEP, FANCC (G362*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 983718	NM_000136.3(FANCC):c.275G>A (p.Trp92Ter)	FANCC (W92*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 983717	NM_000136.3(FANCC):c.323C>A (p.Ser108Ter)	FANCC (S108*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 983716	NM_000136.3(FANCC):c.353T>A (p.Leu118Ter)	FANCC (L118*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 970441	NM_000136.3(FANCC):c.1310A>G (p.Gln437Arg)	AOPEP, FANCC (Q437R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 966788	NM_000136.3(FANCC):c.996+6T>C	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia +2 more	GUncertain significance
Select item 963740	NM_000136.3(FANCC):c.1244C>A (p.Ala415Glu)	FANCC, AOPEP (A415E)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 954255	NM_000136.3(FANCC):c.76T>A (p.Ser26Thr)	FANCC (S26T)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 949816	NM_000136.3(FANCC):c.996+1_996+2insGA	AOPEP, FANCC	Insertion (splice donor variant)	Fanconi anemia +2 more	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 932965	NM_000136.2(FANCC):c.-262-4937_-79+3379del	FANCC, LOC130002128	Deletion (genic upstream transcript variant)	Fanconi anemia complementation group C	GUncertain significance
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 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 +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 929808	NM_000136.3(FANCC):c.662del (p.Glu221fs)	AOPEP, FANCC (E221fs)	Deletion (frameshift variant)	Fanconi anemia complementation group C	GPathogenic
Select item 929805	NC_000009.12:g.(95172148_95240648)_(95240744_95247431)del	FANCC	Deletion	Fanconi anemia complementation group C	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 929802	NM_000136.3(FANCC):c.8_9del (p.Gln3fs)	FANCC (Q3fs)	Deletion (frameshift variant)	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
Select item 929800	NM_000136.3(FANCC):c.568C>T (p.Leu190Phe)	AOPEP, FANCC (L190F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 929799	NM_000136.3(FANCC):c.467del (p.Ser156fs)	FANCC (S156fs)	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 915217	NM_000136.3(FANCC):c.*577G>A	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GUncertain significance
Select item 915216	NM_000136.3(FANCC):c.*587C>T	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GLikely benign
Select item 915215	NM_000136.3(FANCC):c.*660C>T	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GLikely benign
Select item 915183	NM_000136.3(FANCC):c.*1901C>T	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GUncertain significance
Select item 915182	NM_000136.3(FANCC):c.*1976C>T	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GUncertain significance
Select item 914020	NM_000136.3(FANCC):c.1534-8G>A	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia complementation group C	GUncertain significance

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