ClinVar Miner

List of variants studied for Fanconi anemia, complementation group N

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Total variants: 82
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HGVS dbSNP
NC_000016.10:g.(23614092_23621361)_(23641357_?)del
NC_000016.10:g.(23626398_23629203)_(23638130_23641109)del
NM_024675.3(PALB2):c.-149G>A rs886051832
NM_024675.3(PALB2):c.-158G>C rs138200248
NM_024675.3(PALB2):c.-47G>A rs8053188
NM_024675.3(PALB2):c.1000T>G (p.Tyr334Asp) rs202241382
NM_024675.3(PALB2):c.1010T>C (p.Leu337Ser) rs45494092
NM_024675.3(PALB2):c.113C>G (p.Ala38Gly) rs371875379
NM_024675.3(PALB2):c.1194G>A (p.Val398=) rs61755173
NM_024675.3(PALB2):c.12T>C (p.Pro4=) rs567706422
NM_024675.3(PALB2):c.1364A>G (p.Asn455Ser) rs587781824
NM_024675.3(PALB2):c.1415A>G (p.Gln472Arg) rs867817029
NM_024675.3(PALB2):c.1470C>T (p.Pro490=) rs45612837
NM_024675.3(PALB2):c.1492G>T (p.Asp498Tyr) rs75023630
NM_024675.3(PALB2):c.1572A>G (p.Ser524=) rs45472400
NM_024675.3(PALB2):c.1599T>C (p.Thr533=) rs786201088
NM_024675.3(PALB2):c.1610C>T (p.Ser537Leu) rs142103232
NM_024675.3(PALB2):c.1653T>A (p.Tyr551Ter) rs118203997
NM_024675.3(PALB2):c.1676A>G (p.Gln559Arg) rs152451
NM_024675.3(PALB2):c.1676_1677delinsG (p.Gln559fs) rs515726073
NM_024675.3(PALB2):c.1684+11A>G rs201368043
NM_024675.3(PALB2):c.1767G>A (p.Thr589=) rs769849072
NM_024675.3(PALB2):c.1955G>A (p.Ser652Asn) rs587781818
NM_024675.3(PALB2):c.2067G>A (p.Ser689=) rs371149159
NM_024675.3(PALB2):c.2100A>T (p.Ser700=) rs757145884
NM_024675.3(PALB2):c.2228A>G (p.Tyr743Cys) rs141749524
NM_024675.3(PALB2):c.2277A>G (p.Gln759=) rs786202524
NM_024675.3(PALB2):c.2509G>A (p.Glu837Lys) rs587778587
NM_024675.3(PALB2):c.2586+10A>G rs373321719
NM_024675.3(PALB2):c.2590C>T (p.Pro864Ser) rs45568339
NM_024675.3(PALB2):c.2667T>A (p.Thr889=) rs876659224
NM_024675.3(PALB2):c.2674G>A (p.Glu892Lys) rs45476495
NM_024675.3(PALB2):c.2742C>T (p.Phe914=) rs115759702
NM_024675.3(PALB2):c.2794G>A (p.Val932Met) rs45624036
NM_024675.3(PALB2):c.2849C>T (p.Ser950Phe) rs876659160
NM_024675.3(PALB2):c.2851T>C (p.Ser951Pro) rs149522412
NM_024675.3(PALB2):c.2881C>T (p.Leu961=) rs61755166
NM_024675.3(PALB2):c.2896A>G (p.Ile966Val) rs786204248
NM_024675.3(PALB2):c.2962C>T (p.Gln988Ter) rs118203999
NM_024675.3(PALB2):c.298C>T (p.Leu100Phe) rs61756147
NM_024675.3(PALB2):c.2993G>A (p.Gly998Glu) rs45551636
NM_024675.3(PALB2):c.2996+14T>G rs1407045774
NM_024675.3(PALB2):c.2T>C (p.Met1Thr) rs756519825
NM_024675.3(PALB2):c.3054G>C (p.Glu1018Asp) rs183489969
NM_024675.3(PALB2):c.3073G>A (p.Ala1025Thr) rs746872839
NM_024675.3(PALB2):c.3116del (p.Asn1039fs) rs180177133
NM_024675.3(PALB2):c.3251C>T (p.Ser1084Leu) rs62625271
NM_024675.3(PALB2):c.3300T>G (p.Thr1100=) rs45516100
NM_024675.3(PALB2):c.3323del (p.Tyr1108fs) rs180177135
NM_024675.3(PALB2):c.3394T>C (p.Leu1132=) rs1282821765
NM_024675.3(PALB2):c.3494C>T (p.Ser1165Leu) rs773829275
NM_024675.3(PALB2):c.3495G>A (p.Ser1165=) rs45439097
NM_024675.3(PALB2):c.3549C>G (p.Tyr1183Ter) rs118203998
NM_024675.3(PALB2):c.395del (p.Val132fs) rs180177085
NM_024675.3(PALB2):c.495C>T (p.Gly165=) rs200937538
NM_024675.3(PALB2):c.53A>G (p.Lys18Arg) rs138789658
NM_024675.3(PALB2):c.629C>T (p.Pro210Leu) rs57605939
NM_024675.3(PALB2):c.66A>G (p.Ala22=) rs1057520982
NM_024675.3(PALB2):c.718C>A (p.Pro240Thr) rs757567654
NM_024675.3(PALB2):c.733G>C (p.Ala245Pro) rs886051831
NM_024675.3(PALB2):c.828C>T (p.His276=) rs911713488
NM_024675.3(PALB2):c.897T>C (p.Ser299=) rs180177095
NM_024675.3(PALB2):c.909C>T (p.Leu303=) rs145788619
NM_024675.3(PALB2):c.925A>G (p.Ile309Val) rs3809683
NM_024675.3(PALB2):c.94C>G (p.Leu32Val) rs151316635
NM_024675.4(PALB2):c.*232G>T rs180748355
NM_024675.4(PALB2):c.-108C>A
NM_024675.4(PALB2):c.-37C>T
NM_024675.4(PALB2):c.101G>A (p.Arg34His) rs144944814
NM_024675.4(PALB2):c.1379A>G (p.Gln460Arg) rs749494645
NM_024675.4(PALB2):c.1611G>A (p.Ser537=) rs730881874
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln) rs45532440
NM_024675.4(PALB2):c.2135C>T (p.Ala712Val) rs141458731
NM_024675.4(PALB2):c.2201C>A (p.Thr734Asn) rs878855107
NM_024675.4(PALB2):c.2379C>T (p.Gly793=) rs377626805
NM_024675.4(PALB2):c.2393_2394insCT (p.Thr799fs) rs180177113
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192
NM_024675.4(PALB2):c.3294_3298del (p.Lys1098fs)
NM_024675.4(PALB2):c.3402T>A (p.Ser1134=)
NM_024675.4(PALB2):c.388C>T (p.His130Tyr) rs1555461809
NM_024675.4(PALB2):c.755_756CT[1] (p.Leu253fs) rs180177092
PALB2:c.49-?_2586+?del

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