List of variants in gene PALB2 reported as pathogenic by Mendelics

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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: 26

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HGVS	dbSNP	gnomAD frequency
NM_024675.4(PALB2):c.2257C>T (p.Arg753Ter)	rs180177110	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.1675C>T (p.Gln559Ter)	rs1555461154	0.00001
NM_024675.4(PALB2):c.1042C>T (p.Gln348Ter)	rs375699023
NM_024675.4(PALB2):c.1192del (p.Val398fs)	rs1555461407
NM_024675.4(PALB2):c.1424dup (p.Arg476fs)	rs1555461294
NM_024675.4(PALB2):c.1539dup (p.Gly514fs)	rs1567220784
NM_024675.4(PALB2):c.1671_1674del (p.Ile558fs)	rs1060502734
NM_024675.4(PALB2):c.1848dup (p.Glu617Ter)	rs1567218690
NM_024675.4(PALB2):c.2185_2186insA (p.Pro729fs)	rs1597089845
NM_024675.4(PALB2):c.226del (p.Ile76fs)	rs587782443
NM_024675.4(PALB2):c.2770_2773dup (p.Val925fs)	rs1597082866
NM_024675.4(PALB2):c.2964del (p.Gln988_Val989insTer)	rs587781840
NM_024675.4(PALB2):c.3008del (p.Asn1003fs)	rs1567213009
NM_024675.4(PALB2):c.3027del (p.Glu1010fs)	rs876659378
NM_024675.4(PALB2):c.3332del (p.Pro1111fs)	rs1597066595
NM_024675.4(PALB2):c.3350+4A>G	rs180177136
NM_024675.4(PALB2):c.3492G>A (p.Trp1164Ter)	rs587782217
NM_024675.4(PALB2):c.43G>T (p.Glu15Ter)	rs730881884
NM_024675.4(PALB2):c.509_510del (p.Arg170fs)	rs515726123
NM_024675.4(PALB2):c.50T>G (p.Leu17Ter)	rs1567224232
NM_024675.4(PALB2):c.625del (p.Ser209fs)	rs1597098739
NM_024675.4(PALB2):c.715del (p.Arg239fs)	rs1567222476
NM_024675.4(PALB2):c.7G>T (p.Glu3Ter)	rs878855123
NM_024675.4(PALB2):c.93dup (p.Leu32fs)	rs864622498

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