PALB2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +851 more	Copy number gain	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	ABCC1, ABCC6 +400 more	Copy number gain	See cases	GPathogenic
Select item 151527	GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3	APOBR, AQP8 +287 more	Copy number gain	See cases	GLikely pathogenic
Select item 58086	GRCh38/hg38 16p12.2-11.2(chr16:21463739-29249579)x3	LOC130058720, LOC130058721 +287 more	Copy number gain	See cases	GPathogenic
Select item 58734	GRCh38/hg38 16p12.2-12.1(chr16:21600992-28323344)x1	AQP8, ARHGAP17 +209 more	Copy number loss	See cases	GPathogenic
Select item 58099	GRCh38/hg38 16p12.2-11.2(chr16:21602183-29314373)x3	APOBR, AQP8 +280 more	Copy number gain	See cases	GPathogenic
Select item 146289	GRCh38/hg38 16p12.2-11.2(chr16:22634385-29227323)x3	APOBR, AQP8 +233 more	Copy number gain	See cases	GLikely pathogenic
Select item 58626	GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3	DCTPP1, DOC2A +409 more	Copy number gain	See cases	GPathogenic
Select item 430694	NM_024675.3(PALB2):c.3350+1090_*1278dup	PALB2	Duplication	Familial cancer of breast	GLikely pathogenic
Select item 126568	NM_024675.3(PALB2):c.*347A>C	PALB2	Single nucleotide variant	Familial cancer of breast	GLikely benign
Select item 2498119	NC_000016.10:g.(?_23603162)_(23603669_?)del	PALB2	Deletion	Familial cancer of breast	GPathogenic FDA Recognized database
Select item 417517	NC_000016.10:g.(?_23603162)_(23641357_?)del	PALB2	Deletion	Familial cancer of breast	GPathogenic
Select item 241562	NM_024675.3(PALB2):c.3351-?_*297del	PALB2	Deletion	Familial cancer of breast	GPathogenic
Select item 241522	NM_024675.3(PALB2):c.-200_*297dup4058	PALB2	Duplication	Familial cancer of breast	GUncertain significance
Select item 126567	NM_024675.4(PALB2):c.*232G>T	PALB2	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group N	GUncertain significance
Select item 629150	NM_024675.4(PALB2):c.*15A>G	PALB2	Single nucleotide variant (3 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 630079	NM_024675.4(PALB2):c.6_13delinsAATTTGTATACCACTATTCA	PALB2	Indel (3 prime UTR variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 920336	NM_024675.4(PALB2):c.3552_*11del (p.His1184_Ter1187delinsXaa)	PALB2	Deletion (stop lost)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 921019	NM_024675.4(PALB2):c.*10A>T	PALB2	Single nucleotide variant (3 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 660706	NC_000016.10:g.(?_23603449)_(23614101_?)del	PALB2	Deletion	Familial cancer of breast	GPathogenic
Select item 646960	NC_000016.9:g.(?_23614770)_(23619343_?)dup	PALB2	Duplication	Familial cancer of breast	GUncertain significance
Select item 642038	NC_000016.9:g.(?_23614770)_(23652488_?)dup	PALB2	Duplication	Familial cancer of breast	GUncertain significance
Select item 584362	NC_000016.10:g.(?_23603449)_(23603679_?)del	PALB2	Deletion	Familial cancer of breast	GPathogenic
Select item 584175	NC_000016.9:g.(?_23614770)_(23615000_?)dup	PALB2	Duplication	Familial cancer of breast	GUncertain significance
Select item 584112	NC_000016.10:g.(?_23603449)_(23608022_?)del	PALB2	Deletion	Familial cancer of breast	GPathogenic
Select item 583437	NC_000016.10:g.(?_23603449)_(23626407_?)del	PALB2	Deletion	Familial cancer of breast	GPathogenic
Select item 530277	NC_000016.9:g.(?_23614774)_(23614996_?)dup	PALB2	Duplication	Familial cancer of breast	GUncertain significance
Select item 460651	NC_000016.10:g.(?_23603453)_(23614097_?)del	PALB2	Deletion	Familial cancer of breast	GPathogenic
Select item 233562	NM_024675.4(PALB2):c.*4A>G	PALB2	Single nucleotide variant (3 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1048983	NM_024675.4(PALB2):c.3351-150_*2del	PALB2	Deletion (splice acceptor variant)	Malignant tumor of breast	GLikely pathogenic
Select item 628596	NM_024675.4(PALB2):c.*2T>G	PALB2	Single nucleotide variant (3 prime UTR variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 219880	NM_024675.3(PALB2):c.3202-?_*(1_?)del	PALB2	Deletion	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 219816	NM_024675.3(PALB2):c.3114-?_*(1_?)del	PALB2	Deletion	Familial cancer of breast	GPathogenic
Select item 188372	NM_024675.3(PALB2):c.3351-?_*(1_?)del	PALB2	Deletion	Familial cancer of breast	GPathogenic
Select item 437843	NC_000016.10:g.(?_23603459)_(23608012_?)del	PALB2	Deletion	Familial cancer of breast	GPathogenic
Select item 437840	NC_000016.10:g.(?_23603459)_(23626397_?)del	PALB2	Deletion	Familial cancer of breast	GPathogenic
Select item 801241	NM_024675.4(PALB2):c.3559T>C (p.Ter1187Gln)	PALB2	Single nucleotide variant (stop lost)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1425698	NM_024675.4(PALB2):c.3558A>G (p.Ser1186=)	PALB2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1732531	NM_024675.4(PALB2):c.3548_3556dup (p.Tyr1185_Ser1186insTyrHisTyr)	PALB2	Duplication (inframe_indel +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1361226	NM_024675.4(PALB2):c.3557C>G (p.Ser1186Ter)	PALB2 (S1186*)	Single nucleotide variant (nonsense)	Familial cancer of breast	GUncertain significance
Select item 1732627	NM_024675.4(PALB2):c.3555T>C (p.Tyr1185=)	PALB2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 496467	NM_024675.4(PALB2):c.3553T>G (p.Tyr1185Asp)	PALB2 (Y1185D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 241566	NM_024675.4(PALB2):c.3553T>C (p.Tyr1185His)	PALB2 (Y1185H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 830212	NM_024675.4(PALB2):c.3552C>G (p.His1184Gln)	PALB2 (H1184Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 823918	NM_024675.4(PALB2):c.3551del (p.His1184fs)	PALB2 (H1184fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 823914	NM_024675.4(PALB2):c.3550C>T (p.His1184Tyr)	PALB2 (H1184Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 830211	NM_024675.4(PALB2):c.3549C>T (p.Tyr1183=)	PALB2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 128144	NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter)	PALB2 (Y1183*)	Single nucleotide variant (nonsense)	Familial cancer of breast	GPathogenic FDA Recognized database
Select item 1245	NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter)	PALB2 (Y1183*)	Single nucleotide variant (nonsense)	PALB2-Related Disorders +4 more	GPathogenic/Likely pathogenic
Select item 2673873	NM_024675.4(PALB2):c.3537_3547delinsAATGTAG (p.Asn1179_Tyr1183delinsLysMetTer)	PALB2	Indel (nonsense)	Familial cancer of breast	GPathogenic
Select item 573435	NM_024675.4(PALB2):c.3547T>G (p.Tyr1183Asp)	PALB2 (Y1183D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 415978	NM_024675.4(PALB2):c.3546A>G (p.Val1182=)	PALB2	Single nucleotide variant (synonymous variant)	Familial cancer of breast +1 more	GLikely benign
Select item 2843459	NM_024675.4(PALB2):c.3544_3545insA (p.Val1182fs)	PALB2 (V1103fs +10 more)	Insertion (frameshift variant +1 more)	Familial cancer of breast	GPathogenic
Select item 187203	NM_024675.4(PALB2):c.3545T>C (p.Val1182Ala)	PALB2 (V1182A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 579430	NM_024675.4(PALB2):c.3542_3543dup (p.Val1182fs)	PALB2 (V1182fs)	Duplication (frameshift variant)	Familial cancer of breast	GPathogenic
Select item 233540	NM_024675.4(PALB2):c.3544G>C (p.Val1182Leu)	PALB2 (V1182L)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 2673907	NM_024675.4(PALB2):c.3540_3543del (p.Ile1180fs)	PALB2 (I1180fs)	Deletion (frameshift variant)	Familial cancer of breast	GLikely pathogenic
Select item 944799	NM_024675.4(PALB2):c.3543del (p.Phe1181fs)	PALB2 (F1181fs)	Deletion (frameshift variant)	Familial cancer of breast	GUncertain significance FDA Recognized database
Select item 823901	NM_024675.4(PALB2):c.3537_3542delinsAA (p.Asn1179fs)	PALB2 (N1179fs)	Indel (frameshift variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 141728	NM_024675.4(PALB2):c.3542T>C (p.Phe1181Ser)	PALB2 (F1181S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1428461	NM_024675.4(PALB2):c.3528_3540del (p.Lys1176fs)	PALB2 (K1176fs)	Deletion (frameshift variant)	Familial cancer of breast	GPathogenic
Select item 830210	NM_024675.4(PALB2):c.3540A>G (p.Ile1180Met)	PALB2 (I1180M)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer	GUncertain significance
Select item 126747	NM_024675.4(PALB2):c.3539T>C (p.Ile1180Thr)	PALB2 (I1180T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 216757	NM_024675.4(PALB2):c.3538A>G (p.Ile1180Val)	PALB2 (I1180V)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1542068	NM_024675.4(PALB2):c.3537T>C (p.Asn1179=)	PALB2	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GLikely benign
Select item 1505949	NM_024675.4(PALB2):c.3532_3537del (p.Gly1178_Asn1179del)	PALB2	Deletion (inframe_deletion)	Familial cancer of breast	GUncertain significance
Select item 566710	NM_024675.4(PALB2):c.3537T>A (p.Asn1179Lys)	PALB2 (N1179K)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 823900	NM_024675.4(PALB2):c.3536A>G (p.Asn1179Ser)	PALB2 (N1179S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1732385	NM_024675.4(PALB2):c.3534A>T (p.Gly1178=)	PALB2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2013915	NM_024675.4(PALB2):c.3533G>C (p.Gly1178Ala)	PALB2 (G1154A +10 more)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 2055034	NM_024675.4(PALB2):c.3532G>A (p.Gly1178Arg)	PALB2 (G1154R +10 more)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 2773991	NM_024675.4(PALB2):c.3529G>A (p.Asp1177Asn)	PALB2 (D1084N +10 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1172879	NM_024675.4(PALB2):c.3523_3529delinsAAAAAAAAA (p.Gln1175fs)	PALB2 (Q1175fs)	Indel (frameshift variant)	Malignant tumor of breast	GLikely pathogenic
Select item 183868	NM_024675.4(PALB2):c.3525A>G (p.Gln1175=)	PALB2	Single nucleotide variant (synonymous variant)	PALB2-related condition +2 more	GLikely benign
Select item 1023494	NM_024675.4(PALB2):c.3524A>G (p.Gln1175Arg)	PALB2 (Q1175R)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 530070	NM_024675.4(PALB2):c.3523C>T (p.Gln1175Ter)	PALB2 (Q1175*)	Single nucleotide variant (nonsense)	Familial cancer of breast +1 more	GPathogenic
Select item 1376126	NM_024675.4(PALB2):c.3521G>T (p.Gly1174Val)	PALB2 (G1174V)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 186939	NM_024675.4(PALB2):c.3520G>A (p.Gly1174Arg)	PALB2 (G1174R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2587417	NM_024675.4(PALB2):c.3518C>G (p.Ala1173Gly)	PALB2 (A824G +10 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 484241	NM_024675.4(PALB2):c.3518C>A (p.Ala1173Asp)	PALB2 (A1173D)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 460999	NM_024675.4(PALB2):c.3518C>T (p.Ala1173Val)	PALB2 (A1173V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 480273	NM_024675.4(PALB2):c.3517G>A (p.Ala1173Thr)	PALB2 (A1173T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 439235	NM_024675.4(PALB2):c.3517G>T (p.Ala1173Ser)	PALB2 (A1173S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1372173	NM_024675.4(PALB2):c.3515T>G (p.Leu1172Arg)	PALB2 (L1172R)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 484186	NM_024675.4(PALB2):c.3515T>C (p.Leu1172Pro)	PALB2 (L1172P)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 918833	NM_024675.4(PALB2):c.3514C>G (p.Leu1172Val)	PALB2 (L1172V)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 1732184	NM_024675.4(PALB2):c.3513G>A (p.Leu1171=)	PALB2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 801240	NM_024675.4(PALB2):c.3513G>C (p.Leu1171Phe)	PALB2 (L1171F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2498118	NM_024675.4(PALB2):c.3512del (p.Leu1171fs)	PALB2 (L1078fs +10 more)	Deletion (frameshift variant +1 more)	Familial cancer of breast	GUncertain significance FDA Recognized database
Select item 1062367	NM_024675.4(PALB2):c.3512T>C (p.Leu1171Ser)	PALB2 (L1171S)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 1577515	NM_024675.4(PALB2):c.3510T>C (p.His1170=)	PALB2	Single nucleotide variant (synonymous variant)	Familial cancer of breast +1 more	GLikely benign
Select item 1732133	NM_024675.4(PALB2):c.3509A>C (p.His1170Pro)	PALB2 (H1077P +10 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 410119	NM_024675.4(PALB2):c.3508C>A (p.His1170Asn)	PALB2 (H1170N)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 141320	NM_024675.4(PALB2):c.3508C>T (p.His1170Tyr)	PALB2 (H1170Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 140978	NM_024675.4(PALB2):c.3507_3508del (p.His1170fs)	PALB2 (H1170fs)	Microsatellite (frameshift variant)	PALB2-Related Disorders +5 more	GPathogenic/Likely pathogenic
Select item 460998	NM_024675.4(PALB2):c.3506C>G (p.Ser1169Cys)	PALB2 (S1169C)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 1901623	NM_024675.4(PALB2):c.3505T>A (p.Ser1169Thr)	PALB2 (S1090T +10 more)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 1732095	NM_024675.4(PALB2):c.3504C>A (p.Asp1168Glu)	PALB2 (D1114E +10 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1454726	NM_024675.4(PALB2):c.3501_3504del (p.Asp1168fs)	PALB2 (D1168fs)	Deletion (frameshift variant)	Familial cancer of breast	GPathogenic
Select item 1103563	NM_024675.4(PALB2):c.3504C>T (p.Asp1168=)	PALB2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign

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