ClinVar for MedGen (Select 854016) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3241590	NM_022725.4(FANCF):c.307dup (p.Leu103fs)	FANCF (L103fs)	Duplication (frameshift variant)	Fanconi anemia complementation group F	GLikely pathogenic
Select item 3241589	NM_022725.4(FANCF):c.1018G>T (p.Glu340Ter)	FANCF, LOC130005443 (E340*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group F	GLikely pathogenic
Select item 3241588	NM_022725.4(FANCF):c.774_780del (p.Leu259_Leu260insTer)	FANCF	Deletion (frameshift variant)	Fanconi anemia complementation group F	GLikely pathogenic
Select item 3241587	NM_022725.4(FANCF):c.235G>T (p.Gly79Ter)	FANCF (G79*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group F	GLikely pathogenic
Select item 3241586	NM_022725.4(FANCF):c.641dup (p.Leu214fs)	FANCF (L214fs)	Duplication (frameshift variant)	Fanconi anemia complementation group F	GLikely pathogenic
Select item 3241585	NM_022725.4(FANCF):c.78G>A (p.Trp26Ter)	FANCF (W26*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group F	GLikely pathogenic
Select item 3241584	NM_022725.4(FANCF):c.379G>T (p.Glu127Ter)	FANCF (E127*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group F	GLikely pathogenic
Select item 3068012	NM_022725.4(FANCF):c.248T>C (p.Phe83Ser)	FANCF (F83S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group F	GUncertain significance
Select item 2675565	NM_022725.4(FANCF):c.736del (p.Glu246fs)	FANCF (E246fs)	Deletion (frameshift variant)	Fanconi anemia complementation group F	GLikely pathogenic
Select item 2675564	NM_022725.4(FANCF):c.434del (p.Met145fs)	FANCF (M145fs)	Deletion (frameshift variant)	Fanconi anemia complementation group F	GLikely pathogenic
Select item 2675563	NM_022725.4(FANCF):c.167del (p.Thr56fs)	FANCF (T56fs)	Deletion (frameshift variant)	Fanconi anemia complementation group F	GLikely pathogenic
Select item 2675562	NM_022725.4(FANCF):c.530_537del (p.Val177fs)	FANCF (V177fs)	Deletion (frameshift variant)	Fanconi anemia complementation group F	GLikely pathogenic
Select item 2675561	NM_022725.4(FANCF):c.792dup (p.Ser265Ter)	FANCF (S265*)	Duplication (nonsense)	Fanconi anemia complementation group F	GLikely pathogenic
Select item 2675560	NM_022725.4(FANCF):c.658G>T (p.Glu220Ter)	FANCF (E220*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group F +1 more	GPathogenic/Likely pathogenic
Select item 2675559	NM_022725.4(FANCF):c.267_268del (p.Cys89_Asp90delinsTer)	FANCF	Microsatellite (nonsense)	Fanconi anemia complementation group F +1 more	GPathogenic/Likely pathogenic
Select item 2675558	NM_022725.4(FANCF):c.202C>T (p.Gln68Ter)	FANCF (Q68*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group F	GLikely pathogenic
Select item 2675556	NM_022725.4(FANCF):c.133_136del (p.His45fs)	FANCF (H45fs)	Microsatellite (frameshift variant)	Fanconi anemia complementation group F +1 more	GPathogenic/Likely pathogenic
Select item 2675555	NM_022725.4(FANCF):c.898C>T (p.Gln300Ter)	FANCF, LOC130005444 (Q300*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group F	GLikely pathogenic
Select item 2641690	NM_022725.4(FANCF):c.388dup (p.Gln130fs)	FANCF (Q130fs)	Duplication (frameshift variant)	Fanconi anemia complementation group F +2 more	GPathogenic/Likely pathogenic
Select item 2582336	NM_022725.4(FANCF):c.497A>C (p.Gln166Pro)	FANCF (Q166P)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group F	GUncertain significance
Select item 2084424	NM_022725.4(FANCF):c.538del (p.Ala180fs)	FANCF (A180fs)	Deletion (frameshift variant)	Fanconi anemia complementation group F +1 more	GPathogenic
Select item 1691927	NM_022725.4(FANCF):c.688C>T (p.Pro230Ser)	FANCF (P230S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group F +1 more	GUncertain significance
Select item 1691096	NM_022725.4(FANCF):c.283_284del (p.Leu95fs)	FANCF (L95fs)	Microsatellite (frameshift variant)	Fanconi anemia complementation group F	GPathogenic
Select item 1507328	NM_022725.4(FANCF):c.119A>G (p.Tyr40Cys)	FANCF (Y40C)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group F +1 more	GUncertain significance
Select item 1500952	NM_022725.4(FANCF):c.104T>G (p.Leu35Trp)	FANCF (L35W)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1445791	NM_022725.4(FANCF):c.302G>C (p.Arg101Pro)	FANCF (R101P)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group F +2 more	GUncertain significance
Select item 1436499	NM_022725.4(FANCF):c.370G>T (p.Ala124Ser)	FANCF (A124S)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1382523	NM_022725.4(FANCF):c.705A>C (p.Gln235His)	FANCF (Q235H)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group F +1 more	GUncertain significance
Select item 1376822	NM_022725.4(FANCF):c.952C>T (p.Pro318Ser)	FANCF, LOC130005443 (P318S)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1373268	NM_022725.4(FANCF):c.419G>A (p.Arg140Gln)	FANCF (R140Q)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1341334	NM_022725.4(FANCF):c.349C>T (p.Pro117Ser)	FANCF (P117S)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1334027	NM_022725.4(FANCF):c.817_820del (p.Val273fs)	FANCF (V273fs)	Deletion (frameshift variant)	Fanconi anemia complementation group F	GLikely pathogenic
Select item 1319635	NM_022725.4(FANCF):c.801C>A (p.His267Gln)	FANCF (H267Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1169400	NM_022725.4(FANCF):c.534del (p.Lys179fs)	FANCF (K179fs)	Deletion (frameshift variant)	Fanconi anemia complementation group F	GPathogenic
Select item 1169397	NM_022725.4(FANCF):c.438_451del (p.Leu146_Arg147insTer)	FANCF	Deletion (frameshift variant)	Fanconi anemia complementation group F	GPathogenic
Select item 1075622	NM_022725.4(FANCF):c.24_25insA (p.Asp9fs)	FANCF (D9fs)	Insertion (frameshift variant)	Fanconi anemia +1 more	GPathogenic
Select item 1056405	NM_022725.4(FANCF):c.89C>G (p.Thr30Ser)	FANCF (T30S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1053615	NM_022725.4(FANCF):c.992C>T (p.Thr331Ile)	FANCF, LOC130005443 (T331I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1039214	NM_022725.4(FANCF):c.583C>A (p.Arg195Ser)	FANCF (R195S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group F +1 more	GUncertain significance
Select item 1007553	NM_022725.4(FANCF):c.617C>T (p.Ala206Val)	FANCF (A206V)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 1002405	NM_022725.4(FANCF):c.433A>G (p.Met145Val)	FANCF (M145V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group F +1 more	GUncertain significance
Select item 1001967	NM_022725.4(FANCF):c.821A>C (p.Tyr274Ser)	FANCF (Y274S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group F +1 more	GUncertain significance
Select item 1001623	NM_022725.4(FANCF):c.83C>G (p.Pro28Arg)	FANCF (P28R)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 998328	NM_022725.4(FANCF):c.559A>G (p.Arg187Gly)	FANCF (R187G)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 998327	NM_022725.4(FANCF):c.452A>T (p.Tyr151Phe)	FANCF (Y151F)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 998326	NM_022725.4(FANCF):c.338A>G (p.Gln113Arg)	FANCF (Q113R)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 997476	NM_022725.4(FANCF):c.581A>G (p.Glu194Gly)	FANCF (E194G)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group F	GUncertain significance
Select item 992566	NM_022725.4(FANCF):c.353G>T (p.Gly118Val)	FANCF (G118V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group F	GUncertain significance
Select item 970279	NM_022725.4(FANCF):c.364C>G (p.Arg122Gly)	FANCF (R122G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 965327	NM_022725.4(FANCF):c.91G>A (p.Val31Met)	FANCF (V31M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 964280	NM_022725.4(FANCF):c.911G>C (p.Trp304Ser)	FANCF, LOC130005444 (W304S)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 964253	NM_022725.4(FANCF):c.332T>C (p.Leu111Pro)	FANCF (L111P)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 938869	NM_022725.4(FANCF):c.380A>G (p.Glu127Gly)	FANCF (E127G)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 933961	NM_022725.4(FANCF):c.58A>G (p.Thr20Ala)	FANCF (T20A)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 929563	NM_022725.4(FANCF):c.496C>T (p.Gln166Ter)	FANCF (Q166*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group F	GPathogenic
Select item 929562	NM_022725.4(FANCF):c.219del (p.Arg74fs)	FANCF (R74fs)	Deletion (frameshift variant)	Fanconi anemia complementation group F +1 more	GPathogenic
Select item 929561	NM_022725.4(FANCF):c.84del (p.Ala29fs)	FANCF (A29fs)	Deletion (frameshift variant)	Fanconi anemia complementation group F +1 more	GPathogenic
Select item 879837	NM_022725.4(FANCF):c.*328C>T	FANCF	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group F	GUncertain significance
Select item 879836	NM_022725.4(FANCF):c.*336C>A	FANCF	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group F	GUncertain significance
Select item 879835	NM_022725.4(FANCF):c.*412T>A	FANCF	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group F	GUncertain significance
Select item 879834	NM_022725.4(FANCF):c.*461G>T	FANCF	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group F	GBenign
Select item 879833	NM_022725.4(FANCF):c.*539T>A	FANCF	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group F	GUncertain significance
Select item 879832	NM_022725.4(FANCF):c.*555T>C	FANCF	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group F	GUncertain significance
Select item 879792	NM_022725.4(FANCF):c.*1884T>C	FANCF	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group F	GUncertain significance
Select item 879791	NM_022725.4(FANCF):c.*2074A>G	FANCF	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group F	GUncertain significance
Select item 879477	NM_022725.4(FANCF):c.*738T>G	FANCF	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 878062	NM_022725.4(FANCF):c.680A>G (p.His227Arg)	FANCF (H227R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group F +1 more	GUncertain significance
Select item 878061	NM_022725.4(FANCF):c.970A>G (p.Lys324Glu)	FANCF, LOC130005443 (K324E)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group F +1 more	GConflicting classifications of pathogenicity
Select item 878009	NM_022725.4(FANCF):c.*782A>G	FANCF	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group F	GUncertain significance
Select item 878008	NM_022725.4(FANCF):c.*857G>A	FANCF	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group F	GUncertain significance
Select item 878007	NM_022725.4(FANCF):c.*1420A>G	FANCF	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group F	GUncertain significance
Select item 877895	NM_022725.4(FANCF):c.1063C>T (p.Arg355Cys)	FANCF, LOC130005443 (R355C)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group F	GUncertain significance
Select item 877894	NM_022725.4(FANCF):c.1064G>A (p.Arg355His)	FANCF, LOC130005443 (R355H)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group F +1 more	GUncertain significance
Select item 877893	NM_022725.4(FANCF):c.*286A>G	FANCF	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group F	GUncertain significance
Select item 877850	NM_022725.4(FANCF):c.*1440A>G	FANCF	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group F	GUncertain significance
Select item 877849	NM_022725.4(FANCF):c.*1484G>A	FANCF	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group F	GLikely benign
Select item 877848	NM_022725.4(FANCF):c.*1512A>G	FANCF	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group F	GUncertain significance
Select item 840716	NM_022725.4(FANCF):c.62C>G (p.Thr21Ser)	FANCF (T21S)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 806635	NM_022725.4(FANCF):c.193C>T (p.Gln65Ter)	FANCF (Q65*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group F +2 more	GLikely pathogenic
Select item 806634	NM_022725.4(FANCF):c.604del (p.Phe201_Leu202insTer)	FANCF	Deletion (nonsense)	Fanconi anemia +2 more	GPathogenic/Likely pathogenic
Select item 701766	NM_022725.4(FANCF):c.279C>T (p.Leu93=)	FANCF	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group F +2 more	GConflicting classifications of pathogenicity
Select item 666159	NM_022725.4(FANCF):c.943dup (p.Cys315fs)	FANCF, LOC130005443 (C315fs)	Duplication (frameshift variant)	Fanconi anemia complementation group F +1 more	GConflicting classifications of pathogenicity
Select item 662729	NM_022725.4(FANCF):c.489G>C (p.Met163Ile)	FANCF (M163I)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 659459	NM_022725.4(FANCF):c.637C>T (p.Pro213Ser)	FANCF (P213S)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 648667	NM_022725.4(FANCF):c.211G>A (p.Gly71Ser)	FANCF (G71S)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 591962	NM_022725.4(FANCF):c.318_319delinsCC (p.Ala107Pro)	FANCF (A107P)	Indel (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 576019	NM_022725.4(FANCF):c.149G>C (p.Arg50Pro)	FANCF (R50P)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group F +2 more	GUncertain significance
Select item 567023	NM_022725.4(FANCF):c.936A>T (p.Gln312His)	FANCF (Q312H)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 565869	NM_022725.4(FANCF):c.795C>A (p.Ser265Arg)	FANCF (S265R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group F +1 more	GUncertain significance
Select item 456284	NM_022725.4(FANCF):c.573C>G (p.Ser191Arg)	FANCF (S191R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group F +4 more	GConflicting classifications of pathogenicity
Select item 456282	NM_022725.4(FANCF):c.14T>C (p.Leu5Pro)	FANCF (L5P)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group F +2 more	GUncertain significance
Select item 435150	NM_022725.4(FANCF):c.647G>C (p.Arg216Pro)	FANCF (R216P)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 418190	NM_022725.4(FANCF):c.1087C>T (p.Gln363Ter)	FANCF, LOC130005443 (Q363*)	Single nucleotide variant (nonsense)	Fanconi anemia +3 more	GUncertain significance
Select item 408148	NM_022725.4(FANCF):c.446A>G (p.Asn149Ser)	FANCF (N149S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group F +1 more	GUncertain significance
Select item 408147	NM_022725.4(FANCF):c.67G>T (p.Val23Phe)	FANCF (V23F)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group F +1 more	GUncertain significance
Select item 304211	NM_022725.3(FANCF):c.-31T>C	FANCF	Single nucleotide variant	not provided +1 more	GUncertain significance
Select item 304210	NM_022725.3(FANCF):c.-21A>G	FANCF	Single nucleotide variant	Fanconi anemia complementation group F	GUncertain significance
Select item 304209	NM_022725.4(FANCF):c.2T>C (p.Met1Thr)	FANCF (M1T)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group F +1 more	GConflicting classifications of pathogenicity
Select item 304208	NM_022725.4(FANCF):c.101C>T (p.Ala34Val)	FANCF (A34V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 304207	NM_022725.4(FANCF):c.199A>C (p.Arg67=)	FANCF	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign

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