"Mendelics"[submitter] AND "PALB2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 246354	NM_024675.4(PALB2):c.3492G>A (p.Trp1164Ter)	PALB2 (W1164*)	Single nucleotide variant (nonsense)	Familial cancer of breast +2 more	GPathogenic/Likely pathogenic
Select item 126740	NM_024675.4(PALB2):c.3428T>A (p.Leu1143His)	PALB2 (L1143H)	Single nucleotide variant (missense variant)	Familial cancer of breast +6 more	GConflicting classifications of pathogenicity
Select item 803230	NM_024675.4(PALB2):c.3351-48G>T	PALB2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 803229	NM_024675.4(PALB2):c.3351-48del	PALB2	Deletion (intron variant)	Familial cancer of breast	GBenign
Select item 142586	NM_024675.4(PALB2):c.3350+5G>A	PALB2	Single nucleotide variant (intron variant)	Familial cancer of breast +2 more	GPathogenic/Likely pathogenic
Select item 126737	NM_024675.4(PALB2):c.3350+4A>G	PALB2	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely pathogenic FDA Recognized database
Select item 232594	NM_024675.4(PALB2):c.3350G>A (p.Arg1117Lys)	PALB2 (R1117K)	Single nucleotide variant (missense variant)	Familial cancer of breast	GPathogenic FDA Recognized database
Select item 803231	NM_024675.4(PALB2):c.3332del (p.Pro1111fs)	PALB2 (P1111fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 126732	NM_024675.4(PALB2):c.3307G>A (p.Val1103Met)	PALB2 (V1103M)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 142504	NM_024675.4(PALB2):c.3296C>G (p.Thr1099Arg)	PALB2 (T1099R)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 219518	NM_024675.4(PALB2):c.3271C>T (p.Gln1091Ter)	PALB2 (Q1091*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 142035	NM_024675.4(PALB2):c.3257G>A (p.Arg1086Gln)	PALB2 (R1086Q)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 584900	NM_024675.4(PALB2):c.3233G>C (p.Cys1078Ser)	PALB2 (C1078S)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 126723	NM_024675.4(PALB2):c.3202-1G>C	PALB2	Single nucleotide variant (intron variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 480249	NM_024675.4(PALB2):c.3194C>G (p.Ser1065Cys)	PALB2 (S1065C)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 584901	NM_024675.4(PALB2):c.3184A>G (p.Lys1062Glu)	PALB2 (K1062E)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 480290	NM_024675.4(PALB2):c.3130C>T (p.Gln1044Ter)	PALB2 (Q1044*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 830193	NM_024675.4(PALB2):c.3113+1376C>G	PALB2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 584902	NM_024675.4(PALB2):c.3085A>G (p.Thr1029Ala)	PALB2 (T1029A)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 126709	NM_024675.4(PALB2):c.3056T>C (p.Val1019Ala)	PALB2 (V1019A)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GConflicting classifications of pathogenicity
Select item 231807	NM_024675.4(PALB2):c.3027del (p.Glu1010fs)	PALB2 (E1010fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 584903	NM_024675.4(PALB2):c.3008del (p.Asn1003fs)	PALB2 (N1003fs)	Deletion (frameshift variant)	Familial cancer of breast	GPathogenic
Select item 1062828	NM_024675.4(PALB2):c.2998G>C (p.Gly1000Arg)	PALB2 (G1000R)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 215934	NM_024675.4(PALB2):c.2996+9del	PALB2	Deletion (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 246286	NM_024675.4(PALB2):c.2996+5G>T	PALB2	Single nucleotide variant (intron variant)	PALB2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 126699	NM_024675.4(PALB2):c.2993G>A (p.Gly998Glu)	PALB2 (G998E)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 5 +7 more	GBenign/Likely benign
Select item 141560	NM_024675.4(PALB2):c.2964del (p.Gln988_Val989insTer)	PALB2	Deletion (frameshift variant)	Breast cancer, susceptibility to +5 more	GPathogenic
Select item 492206	NM_024675.4(PALB2):c.2961A>G (p.Gln987=)	PALB2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 584904	NM_024675.4(PALB2):c.2927G>C (p.Arg976Thr)	PALB2 (R976T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 126695	NM_024675.4(PALB2):c.2903C>G (p.Ala968Gly)	PALB2 (A968G)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 128136	NM_024675.4(PALB2):c.2897T>C (p.Ile966Thr)	PALB2 (I966T)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 126694	NM_024675.4(PALB2):c.2869A>C (p.Lys957Gln)	PALB2 (K957Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 126683	NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp)	PALB2 (L939W)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 126682	NM_024675.4(PALB2):c.2794G>A (p.Val932Met)	PALB2 (V932M)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 5 +7 more	GBenign/Likely benign
Select item 803232	NM_024675.4(PALB2):c.2770_2773dup (p.Val925fs)	PALB2 (V925fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 410156	NM_024675.4(PALB2):c.2720A>G (p.Glu907Gly)	PALB2 (E907G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 142746	NM_024675.4(PALB2):c.2608G>A (p.Val870Ile)	PALB2 (V870I)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 126669	NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser)	PALB2 (P864S)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 5 +7 more	GBenign/Likely benign
Select item 584905	NM_024675.4(PALB2):c.2587-1G>C	PALB2	Single nucleotide variant (splice acceptor variant +1 more)	Familial cancer of breast +2 more	GConflicting classifications of pathogenicity
Select item 659155	NM_024675.4(PALB2):c.2566C>T (p.Gln856Ter)	PALB2 (Q856*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 492186	NM_024675.4(PALB2):c.2514+10A>G	PALB2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 128133	NM_024675.4(PALB2):c.2509G>A (p.Glu837Lys)	PALB2 (E837K)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 231442	NM_024675.4(PALB2):c.2506G>A (p.Val836Ile)	PALB2 (V836I)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GConflicting classifications of pathogenicity
Select item 233364	NM_024675.4(PALB2):c.2504C>T (p.Ser835Phe)	PALB2 (S835F)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 492185	NM_024675.4(PALB2):c.2466G>T (p.Gln822His)	PALB2 (Q822H)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 183712	NM_024675.4(PALB2):c.2453T>C (p.Phe818Ser)	PALB2 (F818S)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GConflicting classifications of pathogenicity
Select item 232620	NM_024675.4(PALB2):c.2448C>G (p.Phe816Leu)	PALB2 (F816L)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GConflicting classifications of pathogenicity
Select item 410141	NM_024675.4(PALB2):c.2438T>C (p.Ile813Thr)	PALB2 (I813T)	Single nucleotide variant (missense variant)	PALB2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 803233	NM_024675.4(PALB2):c.2425A>G (p.Thr809Ala)	PALB2 (T809A)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 231788	NM_024675.4(PALB2):c.2403C>G (p.Asp801Glu)	PALB2 (D801E)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 142850	NM_024675.4(PALB2):c.2401G>A (p.Asp801Asn)	PALB2 (D801N)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 584906	NM_024675.4(PALB2):c.2398T>A (p.Cys800Ser)	PALB2 (C800S)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 128130	NM_024675.4(PALB2):c.2379C>T (p.Gly793=)	PALB2	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group N +5 more	GConflicting classifications of pathogenicity
Select item 241543	NM_024675.4(PALB2):c.2377G>A (p.Gly793Ser)	PALB2 (G793S)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 186885	NM_024675.4(PALB2):c.2344C>T (p.Pro782Ser)	PALB2 (P782S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 134996	NM_024675.4(PALB2):c.2258G>A (p.Arg753Gln)	PALB2 (R753Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 142403	NM_024675.4(PALB2):c.2257C>T (p.Arg753Ter)	PALB2 (R753*)	Single nucleotide variant (nonsense)	not provided +6 more	GPathogenic
Select item 481035	NM_024675.4(PALB2):c.2218C>T (p.Gln740Ter)	PALB2 (Q740*)	Single nucleotide variant (nonsense)	Familial cancer of breast +3 more	GPathogenic/Likely pathogenic
Select item 241541	NM_024675.4(PALB2):c.2201C>A (p.Thr734Asn)	PALB2 (T734N)	Single nucleotide variant (missense variant)	Familial cancer of breast +5 more	GConflicting classifications of pathogenicity
Select item 657303	NM_024675.4(PALB2):c.2185_2186insA (p.Pro729fs)	PALB2 (P729fs)	Insertion (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 126637	NM_024675.4(PALB2):c.2135C>T (p.Ala712Val)	PALB2 (A712V)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 5 +6 more	GBenign/Likely benign
Select item 803234	NM_024675.4(PALB2):c.2117_2129del (p.Thr706fs)	PALB2 (T706fs)	Deletion (frameshift variant)	Familial cancer of breast	GLikely pathogenic
Select item 584907	NM_024675.4(PALB2):c.2116_2129delinsG (p.Thr706fs)	PALB2 (T706fs)	Indel (frameshift variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 803235	NM_024675.4(PALB2):c.2116A>G (p.Thr706Ala)	PALB2 (T706A)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 233422	NM_024675.4(PALB2):c.2053A>G (p.Lys685Glu)	PALB2 (K685E)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 484244	NM_024675.4(PALB2):c.2026A>C (p.Ile676Leu)	PALB2 (I676L)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GConflicting classifications of pathogenicity
Select item 232550	NM_024675.4(PALB2):c.1982C>G (p.Pro661Arg)	PALB2 (P661R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 126627	NM_024675.4(PALB2):c.1935G>A (p.Glu645=)	PALB2	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign/Likely benign
Select item 415981	NM_024675.4(PALB2):c.1923A>G (p.Lys641=)	PALB2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 5 +4 more	GBenign/Likely benign
Select item 803236	NM_024675.4(PALB2):c.1917G>T (p.Glu639Asp)	PALB2 (E639D)	Single nucleotide variant (missense variant)	Familial cancer of breast	GConflicting classifications of pathogenicity
Select item 460916	NM_024675.4(PALB2):c.1886C>T (p.Ser629Phe)	PALB2 (S629F)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 245656	NM_024675.4(PALB2):c.1861C>A (p.Pro621Thr)	PALB2 (P621T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 584908	NM_024675.4(PALB2):c.1848dup (p.Glu617Ter)	PALB2 (E617*)	Duplication	Familial cancer of breast	GPathogenic
Select item 141972	NM_024675.4(PALB2):c.1748T>G (p.Leu583Trp)	PALB2 (L583W)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance FDA Recognized database
Select item 803237	NM_024675.4(PALB2):c.1685-28T>C	PALB2	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 480240	NM_024675.4(PALB2):c.1675C>T (p.Gln559Ter)	PALB2 (Q559*)	Single nucleotide variant (nonsense)	Familial cancer of breast +2 more	GPathogenic
Select item 410108	NM_024675.4(PALB2):c.1671_1674del (p.Ile558fs)	PALB2 (I558fs)	Microsatellite (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 378317	NM_024675.4(PALB2):c.1611G>A (p.Ser537=)	PALB2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 232283	NM_024675.4(PALB2):c.1588C>T (p.Leu530Phe)	PALB2 (L530F)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 126607	NM_024675.4(PALB2):c.1544A>G (p.Lys515Arg)	PALB2 (K515R)	Single nucleotide variant (missense variant)	Familial cancer of breast +5 more	GConflicting classifications of pathogenicity
Select item 584909	NM_024675.4(PALB2):c.1539dup (p.Gly514fs)	PALB2 (G514fs)	Duplication	Familial cancer of breast	GPathogenic
Select item 232748	NM_024675.4(PALB2):c.1540G>A (p.Gly514Arg)	PALB2 (G514R)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 126604	NM_024675.4(PALB2):c.1470C>T (p.Pro490=)	PALB2	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group N +6 more	GBenign/Likely benign
Select item 642825	NM_024675.4(PALB2):c.1432T>C (p.Ser478Pro)	PALB2 (S478P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 410179	NM_024675.4(PALB2):c.1424dup (p.Arg476fs)	PALB2 (R476fs)	Duplication	not provided +2 more	GPathogenic
Select item 185197	NM_024675.4(PALB2):c.1408A>G (p.Thr470Ala)	PALB2 (T470A)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 187141	NM_024675.4(PALB2):c.1379A>G (p.Gln460Arg)	PALB2 (Q460R)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 184531	NM_024675.4(PALB2):c.1311A>G (p.Lys437=)	PALB2	Single nucleotide variant (synonymous variant)	Familial cancer of breast +5 more	GBenign/Likely benign
Select item 186426	NM_024675.4(PALB2):c.1252A>G (p.Asn418Asp)	PALB2 (N418D)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GConflicting classifications of pathogenicity
Select item 126595	NM_024675.4(PALB2):c.1250C>A (p.Ser417Tyr)	PALB2 (S417Y)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 128117	NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter)	PALB2 (R414*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +6 more	GPathogenic
Select item 241525	NM_024675.4(PALB2):c.1226A>G (p.Tyr409Cys)	PALB2 (Y409C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 410142	NM_024675.4(PALB2):c.1217C>T (p.Ala406Val)	PALB2 (A406V)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 126592	NM_024675.4(PALB2):c.1194G>A (p.Val398=)	PALB2	Single nucleotide variant (synonymous variant)	Breast and/or ovarian cancer +5 more	GConflicting classifications of pathogenicity
Select item 484161	NM_024675.4(PALB2):c.1192del (p.Val398fs)	PALB2 (V398fs)	Deletion (frameshift variant)	Neoplasm of uterus +4 more	GPathogenic
Select item 492149	NM_024675.4(PALB2):c.1140_1143del (p.Ser380fs)	PALB2 (S380fs)	Deletion (frameshift variant)	Familial cancer of breast +4 more	GPathogenic
Select item 185438	NM_024675.4(PALB2):c.1093A>G (p.Arg365Gly)	PALB2 (R365G)	Single nucleotide variant (missense variant)	Pancreatic cancer, susceptibility to, 3 +4 more	GUncertain significance
Select item 757862	NM_024675.4(PALB2):c.1089T>C (p.Asp363=)	PALB2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 221914	NM_024675.4(PALB2):c.1042C>T (p.Gln348Ter)	PALB2 (Q348*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 126581	NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys)	PALB2 (Y334C)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +6 more	GConflicting classifications of pathogenicity

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