List of variants in gene PALB2 reported as pathogenic for DNA repair disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 48

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HGVS	dbSNP	gnomAD frequency
NM_024675.4(PALB2):c.212-2A>G	rs730881879	0.00002
NM_024675.4(PALB2):c.2167_2168del (p.Met723fs)	rs587776416	0.00002
NM_024675.4(PALB2):c.2257C>T (p.Arg753Ter)	rs180177110	0.00002
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter)	rs587776527	0.00002
NM_024675.4(PALB2):c.3323del (p.Tyr1108fs)	rs180177135	0.00002
NM_024675.4(PALB2):c.79G>T (p.Glu27Ter)	rs878855122	0.00002
NM_024675.4(PALB2):c.1140_1143del (p.Ser380fs)	rs1257545151	0.00001
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter)	rs180177100	0.00001
NM_024675.4(PALB2):c.1653T>A (p.Tyr551Ter)	rs118203997	0.00001
NM_024675.4(PALB2):c.2386G>T (p.Gly796Ter)	rs180177112	0.00001
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter)	rs118203998	0.00001
NM_024675.4(PALB2):c.395del (p.Val132fs)	rs180177085	0.00001
NM_024675.4(PALB2):c.758dup (p.Ser254fs)	rs515726126	0.00001
NC_000016.10:g.(23614092_23621361)_(23641357_?)del
NG_007406.1:g.(5249_8228)_(17155_19960)del
NM_024675.3(PALB2):c.1675_1676inv (p.Gln559Ter)
NM_024675.4(PALB2):c.1037_1041del (p.Lys346fs)	rs587776410
NM_024675.4(PALB2):c.1050_1053del (p.Thr351fs)	rs515726060
NM_024675.4(PALB2):c.1059del (p.Lys353fs)	rs730881872
NM_024675.4(PALB2):c.106C>T (p.Gln36Ter)	rs757369748
NM_024675.4(PALB2):c.1188C>A (p.Cys396Ter)	rs587780817
NM_024675.4(PALB2):c.1676_1677delinsG (p.Gln559fs)	rs515726073
NM_024675.4(PALB2):c.1724G>A (p.Trp575Ter)	rs730881876
NM_024675.4(PALB2):c.172_175del (p.Gln60fs)	rs180177143
NM_024675.4(PALB2):c.2052del (p.Arg686fs)	rs587782680
NM_024675.4(PALB2):c.2267_2283dup (p.His762fs)	rs755471995
NM_024675.4(PALB2):c.226del (p.Ile76fs)	rs587782443
NM_024675.4(PALB2):c.2375C>G (p.Ser792Ter)	rs1060502748
NM_024675.4(PALB2):c.2393_2394insCT (p.Thr799fs)	rs180177113
NM_024675.4(PALB2):c.2411_2412del (p.Ser804fs)	rs747148023
NM_024675.4(PALB2):c.2488del (p.Glu830fs)	rs876658813
NM_024675.4(PALB2):c.2718G>A (p.Trp906Ter)	rs180177122
NM_024675.4(PALB2):c.2834+1G>A	rs587776419
NM_024675.4(PALB2):c.2834+1G>T	rs587776419
NM_024675.4(PALB2):c.2920_2921del (p.Lys974fs)	rs180177126
NM_024675.4(PALB2):c.2962C>T (p.Gln988Ter)	rs118203999
NM_024675.4(PALB2):c.2964del (p.Gln988_Val989insTer)	rs587781840
NM_024675.4(PALB2):c.3048del (p.Phe1016fs)	rs515726104
NM_024675.4(PALB2):c.3114-16_3114-11del	rs2142300433
NM_024675.4(PALB2):c.3116del (p.Asn1039fs)	rs180177133
NM_024675.4(PALB2):c.3202-1G>A	rs515726111
NM_024675.4(PALB2):c.3294_3298del (p.Lys1098fs)	rs180177134
NM_024675.4(PALB2):c.3507_3508del (p.His1170fs)	rs587776428
NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter)	rs118203998
NM_024675.4(PALB2):c.509_510del (p.Arg170fs)	rs515726123
NM_024675.4(PALB2):c.599del (p.Leu199_Leu200insTer)	rs587782081
NM_024675.4(PALB2):c.757_758del (p.Leu253fs)	rs180177092
NM_024675.4(PALB2):c.93dup (p.Leu32fs)	rs864622498

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