Related gene-specific medical variations for Gene (Select 79728) - ClinVar

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Links from Gene

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2683910	NM_024675.4(PALB2):c.2620G>A (p.Ala874Thr)	PALB2 (A278T +5 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 5	GUncertain significance
Select item 2682038	NM_024675.4(PALB2):c.-7C>T	PALB2	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2682035	NM_024675.4(PALB2):c.2381G>A (p.Arg794Lys)	PALB2 (R198K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2682034	NM_024675.4(PALB2):c.1860A>T (p.Gly620=)	PALB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2677470	NM_024675.4(PALB2):c.163_164dup (p.Gln55fs)	PALB2 (Q35fs +1 more)	Duplication (frameshift variant +2 more)	Familial cancer of breast	GLikely pathogenic
Select item 2677469	NM_024675.4(PALB2):c.2329delinsCTGTC (p.Asp777fs)	PALB2 (D181fs +3 more)	Indel (frameshift variant +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 2677468	NM_024675.4(PALB2):c.1132_1136dup (p.Lys379fs)	PALB2 (K359fs +2 more)	Duplication (frameshift variant +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 2677466	NM_024675.4(PALB2):c.2759del (p.Leu920fs)	PALB2 (L324fs +7 more)	Deletion (frameshift variant)	Familial cancer of breast	GLikely pathogenic
Select item 2677465	NM_024675.4(PALB2):c.18_22del (p.Lys7fs)	PALB2 (K7fs)	Deletion (frameshift variant +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 2677464	NM_024675.4(PALB2):c.1947del (p.Glu650fs)	PALB2 (E355fs +3 more)	Deletion (frameshift variant +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 2677463	NM_024675.4(PALB2):c.48+3G>C	PALB2	Single nucleotide variant (5 prime UTR variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 2677461	NM_024675.4(PALB2):c.2586+1_2586+3delinsTTG	PALB2	Indel (splice donor variant +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 2677458	NM_024675.4(PALB2):c.1849_1850insCG (p.Glu617fs)	PALB2 (E21fs +3 more)	Insertion (frameshift variant +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 2677457	NM_024675.4(PALB2):c.261_265delinsA (p.His87fs)	PALB2 (H67fs +1 more)	Indel (frameshift variant +2 more)	Familial cancer of breast	GLikely pathogenic
Select item 2677455	NM_024675.4(PALB2):c.2816del (p.Leu939fs)	PALB2 (L117fs +7 more)	Deletion (frameshift variant)	Familial cancer of breast	GLikely pathogenic
Select item 2677453	NM_024675.4(PALB2):c.49-3C>A	PALB2	Single nucleotide variant (intron variant)	Familial cancer of breast	GUncertain significance
Select item 2677452	NM_024675.4(PALB2):c.136C>T (p.His46Tyr)	PALB2 (H26Y +1 more)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast	GUncertain significance
Select item 2677451	NM_024675.4(PALB2):c.956del (p.Ser319fs)	PALB2 (S24fs +2 more)	Deletion (frameshift variant +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 2677450	NM_024675.4(PALB2):c.211+272C>T	PALB2	Single nucleotide variant (intron variant)	Familial cancer of breast	GUncertain significance
Select item 2677449	NM_024675.4(PALB2):c.109-39A>C	PALB2	Single nucleotide variant (intron variant)	Familial cancer of breast	GUncertain significance
Select item 2677448	NM_024675.4(PALB2):c.93_94dup (p.Leu32fs)	PALB2 (L32fs)	Microsatellite (frameshift variant +2 more)	Familial cancer of breast	GPathogenic
Select item 2677446	NM_024675.4(PALB2):c.3023C>G (p.Pro1008Arg)	PALB2 (P1008R +7 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 2677445	NM_024675.4(PALB2):c.1169C>G (p.Ser390Cys)	PALB2 (S370C +2 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 2677444	NM_024675.4(PALB2):c.2587-22A>G	PALB2	Single nucleotide variant (intron variant)	Familial cancer of breast	GUncertain significance
Select item 2672132	NM_024675.4(PALB2):c.922_923delinsATAG (p.Ala308fs)	PALB2 (A13fs +2 more)	Indel (frameshift variant +1 more)	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 2498119	NC_000016.10:g.(?_23603162)_(23603669_?)del	PALB2	Deletion	Familial cancer of breast	GPathogenic FDA Recognized database
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 2445316	NM_024675.4(PALB2):c.933A>C (p.Lys311Asn)	PALB2 (K16N +2 more)	Single nucleotide variant (missense variant)	Ovarian cancer	GBenign
Select item 2442118	NM_024675.4(PALB2):c.1802del (p.Lys601fs)	PALB2 (K601fs)	Deletion (frameshift variant)	Familial cancer of breast	GLikely pathogenic
Select item 1809570	NM_024675.4(PALB2):c.2062A>C (p.Asn688His)	PALB2 (N393H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809518	NM_024675.3:c.2835_3113del	PALB2	Deletion	not provided	GLikely pathogenic
Select item 1797601	NM_024675.3:c.2913_2914insALU	PALB2	Insertion	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 1791536	NM_024675.3:c.2455_2456insALU	PALB2	Insertion	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 1785834	NM_024675.3:c.2099_2100insALU	PALB2	Insertion	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 1785821	NM_024675.3:c.2098_2099insALU	PALB2	Insertion	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 1759495	NM_024675.3:c.1246_1247insALU	PALB2	Insertion	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 1728535	NM_024675.3:c.3180_3181insALU	PALB2	Insertion	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 1722507	NM_024675.4(PALB2):c.792del (p.His264fs)	PALB2 (H264fs)	Deletion (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1722506	NM_024675.4(PALB2):c.520A>T (p.Lys174Ter)	PALB2 (K154* +1 more)	Single nucleotide variant (nonsense)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1701912	NG_007406.1:g.?_?ins(23632682_23625413)_(23625324_23619334)	PALB2	Insertion	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 1344535	NM_024675.4(PALB2):c.142A>T (p.Ile48Phe)	PALB2 (I48F)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GUncertain significance
Select item 1330095	NM_024675.4(PALB2):c.2127_2128del (p.Thr710fs)	PALB2 (T710fs)	Deletion (frameshift variant)	not specified	GLikely pathogenic
Select item 1319618	NM_024675.4(PALB2):c.1389T>G (p.Ile463Met)	PALB2 (I463M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1177506	GRCh37/hg19 16p12.2(chr16:23614483-23619333)x1	PALB2	Copy number loss	Hereditary cancer-predisposing syndrome +1 more	Gnot provided
Select item 1065555	NM_024675.3:c.(3201+1_3202-1)_(*297+?)dup	PALB2	Duplication	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1065554	NM_024675.3:c.(3201+1_3202-1)_(3350+1_3351-1)dup	PALB2	Duplication	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1065553	NM_024675.3:c.(1684+1_1685-1)_(2748+1_2749-1)dup	PALB2	Duplication	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1065552	NM_024675.3:c.(3113+1_3114-1)_(3201+1_3202-1)dup	PALB2	Duplication	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 931344	NM_024675.4(PALB2):c.3114-130A>C	PALB2	Single nucleotide variant (intron variant)	Familial cancer of breast	GUncertain significance
Select item 873421	NM_024675.4(PALB2):c.46A>G (p.Lys16Glu)	PALB2 (K16E)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 873420	NM_024675.4(PALB2):c.2587-703G>A	PALB2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 591753	NM_024675.4(PALB2):c.3329_3331del (p.Leu1110del)	PALB2 (L1110del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 591651	NM_024675.4(PALB2):c.1042_1044del (p.Gln348del)	PALB2 (Q348del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 254056	NM_024675.3(PALB2):c.3202-?_3350+?del	PALB2	Deletion	Familial cancer of breast	GPathogenic
Select item 254050	NM_024675.3(PALB2):c.1685-?_2748+?dup	PALB2	Duplication	Familial cancer of breast	GLikely pathogenic

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Items: 55