ClinVar for MedGen (Select 419019) - ClinVar

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Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 1299359	NM_003413.4(ZIC3):c.1010A>G (p.Lys337Arg)	ZIC3 (K337R)	Single nucleotide variant (missense variant)	VACTERL association, X-linked, with or without hydrocephalus	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 1074222	NM_003413.4(ZIC3):c.1103del (p.Arg368fs)	ZIC3 (R368fs)	Deletion (frameshift variant)	VACTERL association, X-linked, with or without hydrocephalus +1 more	GPathogenic/Likely pathogenic
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 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 914969	NM_003413.4(ZIC3):c.*260T>C	ZIC3	Single nucleotide variant (3 prime UTR variant +1 more)	VACTERL association, X-linked, with or without hydrocephalus +1 more	GUncertain significance
Select item 914968	NM_003413.4(ZIC3):c.*153A>G	ZIC3	Single nucleotide variant (3 prime UTR variant +1 more)	VACTERL association, X-linked, with or without hydrocephalus +1 more	GUncertain significance
Select item 914457	NM_003413.4(ZIC3):c.*26T>C	ZIC3	Single nucleotide variant (3 prime UTR variant +1 more)	VACTERL association, X-linked, with or without hydrocephalus +1 more	GConflicting classifications of pathogenicity
Select item 914456	NM_003413.4(ZIC3):c.668A>G (p.Asn223Ser)	ZIC3 (N223S)	Single nucleotide variant (missense variant)	VACTERL association, X-linked, with or without hydrocephalus +1 more	GConflicting classifications of pathogenicity
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 913383	NM_003413.4(ZIC3):c.*1581G>A	ZIC3	Single nucleotide variant (3 prime UTR variant +1 more)	VACTERL association, X-linked, with or without hydrocephalus +1 more	GUncertain significance
Select item 913382	NM_003413.4(ZIC3):c.*1492T>C	ZIC3	Single nucleotide variant (3 prime UTR variant +1 more)	VACTERL association, X-linked, with or without hydrocephalus +1 more	GUncertain significance
Select item 913335	NM_003413.4(ZIC3):c.607G>A (p.Ala203Thr)	ZIC3 (A203T)	Single nucleotide variant (missense variant)	VACTERL association, X-linked, with or without hydrocephalus +2 more	GBenign/Likely benign
Select item 913334	NM_003413.4(ZIC3):c.116C>T (p.Pro39Leu)	ZIC3 (P39L)	Single nucleotide variant (missense variant)	VACTERL association, X-linked, with or without hydrocephalus +1 more	GUncertain significance
Select item 913013	NM_003413.4(ZIC3):c.*1362T>G	ZIC3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 913012	NM_003413.4(ZIC3):c.*750A>G	ZIC3	Single nucleotide variant (3 prime UTR variant +1 more)	VACTERL association, X-linked, with or without hydrocephalus +1 more	GUncertain significance
Select item 912972	NM_003413.4(ZIC3):c.-169A>C	ZIC3	Single nucleotide variant (5 prime UTR variant)	VACTERL association, X-linked, with or without hydrocephalus +1 more	GUncertain significance
Select item 912971	NM_003413.4(ZIC3):c.-335C>T	ZIC3	Single nucleotide variant (5 prime UTR variant)	VACTERL association, X-linked, with or without hydrocephalus +1 more	GUncertain significance
Select item 912970	NM_003413.4(ZIC3):c.-424C>A	ZIC3	Single nucleotide variant (5 prime UTR variant)	VACTERL association, X-linked, with or without hydrocephalus +1 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 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 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)	Fanconi anemia +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 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 367963	NM_003413.4(ZIC3):c.*2024G>C	ZIC3	Single nucleotide variant (3 prime UTR variant +1 more)	VACTERL association, X-linked, with or without hydrocephalus +2 more	GBenign/Likely benign
Select item 367962	NM_003413.4(ZIC3):c.*1715A>G	ZIC3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital heart defects 1, nonsyndromic, 1 +2 more	GUncertain significance
Select item 367961	NM_003413.4(ZIC3):c.*1540G>A	ZIC3	Single nucleotide variant (3 prime UTR variant +1 more)	VACTERL association, X-linked, with or without hydrocephalus +2 more	GConflicting classifications of pathogenicity
Select item 367960	NM_003413.4(ZIC3):c.*1237A>T	ZIC3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital heart defects 1, nonsyndromic, 1 +2 more	GUncertain significance
Select item 367959	NM_003413.4(ZIC3):c.*1189A>G	ZIC3	Single nucleotide variant (3 prime UTR variant +1 more)	VACTERL association, X-linked, with or without hydrocephalus +2 more	GBenign/Likely benign
Select item 367958	NM_003413.4(ZIC3):c.1171_1173del	ZIC3	Deletion (3 prime UTR variant +1 more)	Congenital heart defects 1, nonsyndromic, 1 +2 more	GUncertain significance
Select item 367957	NM_003413.4(ZIC3):c.798_802del	ZIC3	Deletion (3 prime UTR variant +1 more)	Congenital heart defects 1, nonsyndromic, 1 +2 more	GUncertain significance
Select item 367956	NM_003413.4(ZIC3):c.*489A>G	ZIC3	Single nucleotide variant (3 prime UTR variant +1 more)	VACTERL association, X-linked, with or without hydrocephalus +2 more	GBenign/Likely benign
Select item 367955	NM_003413.4(ZIC3):c.*41A>G	ZIC3	Single nucleotide variant (intron variant +1 more)	Heterotaxy, visceral, 1, X-linked +2 more	GBenign/Likely benign
Select item 367954	NM_003413.4(ZIC3):c.906C>T (p.Cys302=)	ZIC3	Single nucleotide variant (synonymous variant)	VACTERL association, X-linked, with or without hydrocephalus +2 more	GBenign/Likely benign
Select item 367953	NM_003413.4(ZIC3):c.131C>G (p.Thr44Ser)	ZIC3 (T44S)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 1, X-linked +2 more	GConflicting classifications of pathogenicity
Select item 367952	NM_003413.4(ZIC3):c.-479C>T	ZIC3	Single nucleotide variant (5 prime UTR variant)	Congenital heart defects 1, nonsyndromic, 1 +2 more	GUncertain significance
Select item 281376	NM_001018113.3(FANCB):c.1105-26TATT[4]	FANCB	Microsatellite (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 257062	NM_001018113.3(FANCB):c.1004G>A (p.Gly335Glu)	FANCB (G335E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 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 209077	NM_018062.4(FANCL):c.430del (p.Ser144fs)	FANCL (S144fs)	Deletion (frameshift variant)	Fanconi anemia complementation group L +1 more	GPathogenic/Likely pathogenic
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 190129	NM_003413.4(ZIC3):c.49G>T (p.Gly17Cys)	ZIC3 (G17C)	Single nucleotide variant (missense variant)	Congenital heart defects 1, nonsyndromic, 1 +4 more	GBenign/Likely benign
Select item 93467	NM_001018113.3(FANCB):c.1327-10T>C	FANCB	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 29955	NM_003413.4(ZIC3):c.163GCC[3] (p.Ala54_Ala55dup)	ZIC3	Microsatellite (inframe_insertion)	VACTERL association, X-linked, with or without hydrocephalus	GPathogenic
Select item 11439	NM_003413.4(ZIC3):c.649C>G (p.Pro217Ala)	ZIC3 (P217A)	Single nucleotide variant (missense variant)	Congenital heart defects 1, nonsyndromic, 1 +3 more	GBenign/Likely benign

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Items: 100