ClinVar for MedGen (Select 336901) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2675464	NM_001018113.3(FANCB):c.83C>G (p.Ser28Cys)	FANCB (S28C)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group B	GUncertain significance
Select item 2582661	NM_001018113.3(FANCB):c.972del (p.Lys324fs)	FANCB (K324fs)	Deletion (frameshift variant)	Fanconi anemia complementation group B	GLikely pathogenic
Select item 2441344	NM_001018113.3(FANCB):c.2373C>G (p.Ser791Arg)	FANCB (S791R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group B	GUncertain significance
Select item 2441343	NM_001018113.3(FANCB):c.2053A>G (p.Ile685Val)	FANCB (I685V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group B +1 more	GConflicting classifications of pathogenicity
Select item 2149349	NM_001018113.3(FANCB):c.1177C>T (p.Pro393Ser)	FANCB (P393S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group B +1 more	GUncertain significance
Select item 2042137	NM_001018113.3(FANCB):c.271C>T (p.Leu91Phe)	FANCB (L91F)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia +1 more	GUncertain significance
Select item 1675073	NM_001018113.3(FANCB):c.1624C>T (p.Pro542Ser)	FANCB (P542S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group B	GUncertain significance
Select item 1652128	NM_001018113.3(FANCB):c.2385T>C (p.Ser795=)	FANCB	Single nucleotide variant (synonymous variant)	Fanconi anemia +2 more	GLikely benign
Select item 1468716	NM_001018113.3(FANCB):c.306T>A (p.Asn102Lys)	FANCB (N102K)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia +2 more	GUncertain significance
Select item 1467792	NM_001018113.3(FANCB):c.1216C>T (p.Arg406Trp)	FANCB (R406W)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 1434707	NM_001018113.3(FANCB):c.1615T>C (p.Tyr539His)	FANCB (Y539H)	Single nucleotide variant (missense variant)	VACTERL association, X-linked, with or without hydrocephalus +2 more	GUncertain significance
Select item 1421028	NM_001018113.3(FANCB):c.1317T>A (p.Ser439Arg)	FANCB (S439R)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 1366974	NM_001018113.3(FANCB):c.1487C>G (p.Ser496Cys)	FANCB (S496C)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group B +2 more	GUncertain significance
Select item 1364951	NM_001018113.3(FANCB):c.910A>G (p.Ile304Val)	FANCB (I304V)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 1356788	NM_001018113.3(FANCB):c.1130A>G (p.Asp377Gly)	FANCB (D377G)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 1308291	NM_001018113.3(FANCB):c.2565_2569delinsTTTATAATTCTGT (p.Lys855_Ser857delinsAsnLeuTer)	FANCB	Indel (nonsense)	not provided +2 more	GUncertain significance
Select item 1106657	NM_001018113.3(FANCB):c.1767A>G (p.Thr589=)	FANCB	Single nucleotide variant (synonymous variant)	VACTERL association, X-linked, with or without hydrocephalus +3 more	GLikely benign
Select item 1047336	NM_001018113.3(FANCB):c.1226G>A (p.Arg409Gln)	FANCB (R409Q)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group B +2 more	GUncertain significance
Select item 1045558	NM_001018113.3(FANCB):c.1838G>C (p.Arg613Pro)	FANCB (R613P)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 1024072	NM_001018113.3(FANCB):c.1118A>G (p.Asp373Gly)	FANCB (D373G)	Single nucleotide variant (missense variant)	VACTERL association, X-linked, with or without hydrocephalus +3 more	GUncertain significance
Select item 1011422	NM_001018113.3(FANCB):c.593A>C (p.Gln198Pro)	FANCB (Q198P)	Single nucleotide variant (missense variant)	VACTERL association, X-linked, with or without hydrocephalus +2 more	GUncertain significance
Select item 1005025	NM_001018113.3(FANCB):c.800C>T (p.Ser267Leu)	FANCB (S267L)	Single nucleotide variant (missense variant)	FANCB-related condition +3 more	GUncertain significance
Select item 997556	NM_001018113.3(FANCB):c.2224T>C (p.Cys742Arg)	FANCB (C742R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group B	GUncertain significance
Select item 982707	NM_001018113.3(FANCB):c.1458C>G (p.Ser486Arg)	FANCB (S486R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group B +1 more	GUncertain significance
Select item 951089	NM_001018113.3(FANCB):c.1719G>T (p.Glu573Asp)	FANCB (E573D)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 937196	NM_001018113.3(FANCB):c.1606C>T (p.Pro536Ser)	FANCB (P536S)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 913986	NM_001018113.3(FANCB):c.-219G>T	FANCB	Single nucleotide variant (5 prime UTR variant +1 more)	VACTERL association, X-linked, with or without hydrocephalus +1 more	GUncertain significance
Select item 913944	NM_001018113.3(FANCB):c.1179T>C (p.Pro393=)	FANCB	Single nucleotide variant (synonymous variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 913897	NM_001018113.3(FANCB):c.2373C>T (p.Ser791=)	FANCB	Single nucleotide variant (synonymous variant)	VACTERL association, X-linked, with or without hydrocephalus +2 more	GConflicting classifications of pathogenicity
Select item 913592	NM_001018113.3(FANCB):c.-111A>G	FANCB	Single nucleotide variant (5 prime UTR variant +2 more)	VACTERL association, X-linked, with or without hydrocephalus +1 more	GUncertain significance
Select item 913591	NM_001018113.3(FANCB):c.183C>T (p.Ser61=)	FANCB	Single nucleotide variant (synonymous variant +1 more)	VACTERL association, X-linked, with or without hydrocephalus +2 more	GConflicting classifications of pathogenicity
Select item 913590	NM_001018113.3(FANCB):c.196A>C (p.Thr66Pro)	FANCB (T66P)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia +2 more	GUncertain significance
Select item 912474	NM_001018113.3(FANCB):c.362G>A (p.Arg121His)	FANCB (R121H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 912473	NM_001018113.3(FANCB):c.809A>G (p.Asn270Ser)	FANCB (N270S)	Single nucleotide variant (missense variant)	VACTERL association, X-linked, with or without hydrocephalus +1 more	GUncertain significance
Select item 912445	NM_001018113.3(FANCB):c.1652G>A (p.Arg551Lys)	FANCB (R551K)	Single nucleotide variant (missense variant)	VACTERL association, X-linked, with or without hydrocephalus +1 more	GUncertain significance
Select item 912444	NM_001018113.3(FANCB):c.1929G>A (p.Glu643=)	FANCB	Single nucleotide variant (synonymous variant)	VACTERL association, X-linked, with or without hydrocephalus +1 more	GUncertain significance
Select item 912396	NM_001018113.3(FANCB):c.*151A>G	FANCB	Single nucleotide variant (3 prime UTR variant)	VACTERL association, X-linked, with or without hydrocephalus +1 more	GUncertain significance
Select item 701227	NM_001018113.3(FANCB):c.504C>G (p.Ser168=)	FANCB	Single nucleotide variant (synonymous variant)	VACTERL association, X-linked, with or without hydrocephalus +2 more	GBenign/Likely benign
Select item 700578	NM_001018113.3(FANCB):c.1067C>T (p.Ser356Leu)	FANCB (S356L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 696274	NM_001018113.3(FANCB):c.1995C>T (p.Pro665=)	FANCB	Single nucleotide variant (synonymous variant)	FANCB-related condition +3 more	GBenign/Likely benign
Select item 695272	NM_001018113.3(FANCB):c.1987A>G (p.Thr663Ala)	FANCB (T663A)	Single nucleotide variant (missense variant)	VACTERL association, X-linked, with or without hydrocephalus +2 more	GBenign
Select item 691316	NM_001018113.3(FANCB):c.2249_2252del (p.Gly750fs)	FANCB (G750fs)	Deletion (frameshift variant)	Fanconi anemia complementation group B	GPathogenic
Select item 691314	NM_001018113.3(FANCB):c.2172_2175del (p.Thr725fs)	FANCB (T725fs)	Deletion (frameshift variant)	Fanconi anemia complementation group B	GPathogenic
Select item 691311	NM_001018113.3(FANCB):c.2165+1G>T	FANCB	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group B	GPathogenic
Select item 691310	NM_001018113.3(FANCB):c.2059G>T (p.Glu687Ter)	FANCB (E687*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group B	GUncertain significance
Select item 691309	NM_001018113.3(FANCB):c.2027T>C (p.Leu676Pro)	FANCB (L676P)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group B	GUncertain significance
Select item 691308	NM_001018113.3(FANCB):c.1856_1857insT (p.Arg619fs)	FANCB (R619fs)	Insertion (frameshift variant)	Fanconi anemia complementation group B	GPathogenic
Select item 691307	NM_001018113.3(FANCB):c.1811_1814del (p.Arg604fs)	FANCB (R604fs)	Microsatellite (frameshift variant)	Fanconi anemia complementation group B	GPathogenic
Select item 691306	NM_001018113.3(FANCB):c.1497_2580del (p.Ser500fs)	FANCB (S500fs)	Deletion (frameshift variant +2 more)	Fanconi anemia complementation group B	GPathogenic
Select item 691305	NM_001018113.3(FANCB):c.1103C>A (p.Ser368Ter)	FANCB (S368*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group B	GPathogenic
Select item 691304	NM_001018113.3(FANCB):c.986T>C (p.Leu329Pro)	FANCB (L329P)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group B	GPathogenic
Select item 691302	NM_001018113.3(FANCB):c.949C>T (p.Gln317Ter)	FANCB (Q317*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group B	GPathogenic
Select item 691301	NM_001018113.3(FANCB):c.829dup (p.Cys277fs)	FANCB (C277fs)	Duplication (frameshift variant)	Fanconi anemia complementation group B	GPathogenic
Select item 691300	NM_001018113.3(FANCB):c.755_767del (p.Leu252fs)	FANCB (L252fs)	Deletion (frameshift variant)	Fanconi anemia complementation group B	GPathogenic
Select item 691299	NM_001018113.3(FANCB):c.195dup (p.Thr66fs)	FANCB (T66fs)	Duplication (frameshift variant +1 more)	Fanconi anemia complementation group B	GPathogenic
Select item 691298	NM_001018113.3(FANCB):c.128T>C (p.Leu43Ser)	FANCB (L43S)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group B	GPathogenic
Select item 691296	NM_152633.4(FANCB):c.-70-3463_951dup	FANCB	Duplication (splice acceptor variant +1 more)	Fanconi anemia complementation group B	GUncertain significance
Select item 691295	NM_001018113.1(FANCB):c.(?_-268)_(*160_?)del	FANCB	Deletion	Fanconi anemia complementation group B	GPathogenic
Select item 655456	NM_001018113.3(FANCB):c.833A>G (p.Gln278Arg)	FANCB (Q278R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 647502	NM_001018113.3(FANCB):c.898G>T (p.Val300Phe)	FANCB (V300F)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group B +2 more	GUncertain significance
Select item 572694	NM_001018113.3(FANCB):c.2342A>G (p.Glu781Gly)	FANCB (E781G)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 562389	NM_001018113.3(FANCB):c.1668del (p.Asp557fs)	FANCB (D557fs)	Deletion (frameshift variant)	Fanconi anemia complementation group B	GPathogenic
Select item 526496	NM_001018113.3(FANCB):c.1442G>A (p.Arg481His)	FANCB (R481H)	Single nucleotide variant (missense variant)	VACTERL association, X-linked, with or without hydrocephalus +2 more	GBenign
Select item 526453	NM_001018113.3(FANCB):c.1393T>C (p.Ser465Pro)	FANCB (S465P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 456185	NM_001018113.3(FANCB):c.330A>C (p.Leu110=)	FANCB	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group B +2 more	GBenign/Likely benign
Select item 456183	NM_001018113.3(FANCB):c.2327C>T (p.Ala776Val)	FANCB (A776V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group B +2 more	GConflicting classifications of pathogenicity
Select item 456182	NM_001018113.3(FANCB):c.2165+10A>T	FANCB	Single nucleotide variant (intron variant)	Fanconi anemia +1 more	GBenign
Select item 456180	NM_001018113.3(FANCB):c.199A>G (p.Ile67Val)	FANCB (I67V)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group B +2 more	GConflicting classifications of pathogenicity
Select item 435138	NM_001018113.3(FANCB):c.706G>A (p.Val236Met)	FANCB (V236M)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 414827	NM_001018113.3(FANCB):c.2477C>T (p.Thr826Met)	FANCB (T826M)	Single nucleotide variant (missense variant)	FANCB-related condition +4 more	GBenign/Likely benign
Select item 408163	NM_001018113.3(FANCB):c.652G>C (p.Glu218Gln)	FANCB (E218Q)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 408160	NM_001018113.3(FANCB):c.1720T>A (p.Cys574Ser)	FANCB (C574S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group B +4 more	GConflicting classifications of pathogenicity
Select item 368039	NM_001018113.3(FANCB):c.-232G>A	FANCB	Single nucleotide variant (5 prime UTR variant +1 more)	VACTERL association, X-linked, with or without hydrocephalus +1 more	GLikely benign
Select item 368038	NM_001018113.3(FANCB):c.-230A>T	FANCB	Single nucleotide variant (5 prime UTR variant +1 more)	VACTERL association, X-linked, with or without hydrocephalus +1 more	GUncertain significance
Select item 368037	NM_001018113.3(FANCB):c.-229T>G	FANCB	Single nucleotide variant (5 prime UTR variant +1 more)	VACTERL association, X-linked, with or without hydrocephalus +1 more	GBenign
Select item 368036	NM_001018113.3(FANCB):c.-173G>C	FANCB	Single nucleotide variant (5 prime UTR variant +2 more)	VACTERL association, X-linked, with or without hydrocephalus +1 more	GBenign
Select item 368035	NM_001018113.3(FANCB):c.69T>C (p.Leu23=)	FANCB	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 368033	NM_001018113.3(FANCB):c.357A>T (p.Glu119Asp)	FANCB (E119D)	Single nucleotide variant (missense variant)	VACTERL association, X-linked, with or without hydrocephalus +1 more	GUncertain significance
Select item 368032	NM_001018113.3(FANCB):c.402A>G (p.Leu134=)	FANCB	Single nucleotide variant (synonymous variant)	History of neurodevelopmental disorder +4 more	GBenign/Likely benign
Select item 368031	NM_001018113.3(FANCB):c.782G>A (p.Arg261Gln)	FANCB (R261Q)	Single nucleotide variant (missense variant)	VACTERL association, X-linked, with or without hydrocephalus +1 more	GUncertain significance
Select item 368029	NM_001018113.3(FANCB):c.914C>A (p.Ser305Tyr)	FANCB (S305Y)	Single nucleotide variant (missense variant)	VACTERL association, X-linked, with or without hydrocephalus +1 more	GUncertain significance
Select item 368028	NM_001018113.3(FANCB):c.952-13C>T	FANCB	Single nucleotide variant (intron variant)	VACTERL association, X-linked, with or without hydrocephalus +2 more	GConflicting classifications of pathogenicity
Select item 368027	NM_001018113.3(FANCB):c.1078A>G (p.Thr360Ala)	FANCB (T360A)	Single nucleotide variant (missense variant)	VACTERL association, X-linked, with or without hydrocephalus +1 more	GUncertain significance
Select item 368026	NM_001018113.3(FANCB):c.1265C>T (p.Ser422Phe)	FANCB (S422F)	Single nucleotide variant (missense variant)	VACTERL association, X-linked, with or without hydrocephalus +1 more	GUncertain significance
Select item 368025	NM_001018113.3(FANCB):c.1310C>T (p.Thr437Met)	FANCB (T437M)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GBenign
Select item 368024	NM_001018113.3(FANCB):c.1494G>T (p.Lys498Asn)	FANCB (K498N)	Single nucleotide variant (missense variant)	VACTERL association, X-linked, with or without hydrocephalus +4 more	GConflicting classifications of pathogenicity
Select item 368023	NM_001018113.3(FANCB):c.1817G>A (p.Ser606Asn)	FANCB (S606N)	Single nucleotide variant (missense variant)	not provided +3 more	GLikely benign
Select item 368022	NM_001018113.3(FANCB):c.2311A>G (p.Ser771Gly)	FANCB (S771G)	Single nucleotide variant (missense variant)	FANCB-related condition +4 more	GBenign/Likely benign
Select item 368021	NM_001018113.3(FANCB):c.2411A>G (p.Asp804Gly)	FANCB (D804G)	Single nucleotide variant (missense variant)	FANCB-related condition +3 more	GBenign/Likely benign
Select item 368020	NM_001018113.3(FANCB):c.*14T>C	FANCB	Single nucleotide variant (3 prime UTR variant)	VACTERL association, X-linked, with or without hydrocephalus +2 more	GBenign
Select item 368019	NM_001018113.3(FANCB):c.*33T>C	FANCB	Single nucleotide variant (3 prime UTR variant)	VACTERL association, X-linked, with or without hydrocephalus +1 more	GBenign
Select item 368018	NM_001018113.3(FANCB):c.*66T>G	FANCB	Single nucleotide variant (3 prime UTR variant)	VACTERL association, X-linked, with or without hydrocephalus +1 more	GBenign
Select item 281376	NM_001018113.3(FANCB):c.1105-26TATT[4]	FANCB	Microsatellite (intron variant)	FANCB-related condition +5 more	GBenign/Likely benign
Select item 257062	NM_001018113.3(FANCB):c.1004G>A (p.Gly335Glu)	FANCB (G335E)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 246615	NM_001018113.3(FANCB):c.2452A>G (p.Arg818Gly)	FANCB (R818G)	Single nucleotide variant (missense variant)	FANCB-related condition +5 more	GBenign/Likely benign
Select item 246612	NM_001018113.3(FANCB):c.1996G>A (p.Gly666Ser)	FANCB (G666S)	Single nucleotide variant (missense variant)	FANCB-related condition +4 more	GConflicting classifications of pathogenicity
Select item 246611	NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser)	FANCB (F590S)	Single nucleotide variant (missense variant)	FANCB-related condition +7 more	GConflicting classifications of pathogenicity
Select item 198442	NM_001018113.3(FANCB):c.1371C>T (p.Val457=)	FANCB	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 197705	NM_001018113.3(FANCB):c.1140T>A (p.Phe380Leu)	FANCB (F380L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 93467	NM_001018113.3(FANCB):c.1327-10T>C	FANCB	Single nucleotide variant (intron variant)	not specified +4 more	GBenign

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