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

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 239

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 460999	NM_024675.4(PALB2):c.3518C>T (p.Ala1173Val)	PALB2 (A1173V)	Single nucleotide variant (missense variant)	not provided +3 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 +4 more	GConflicting classifications of pathogenicity
Select item 140978	NM_024675.4(PALB2):c.3507_3508del (p.His1170fs)	PALB2 (H1170fs)	Microsatellite (frameshift variant)	Hereditary breast ovarian cancer syndrome +6 more	GConflicting classifications of pathogenicity
Select item 246354	NM_024675.4(PALB2):c.3492G>A (p.Trp1164Ter)	PALB2 (W1164*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 142079	NM_024675.4(PALB2):c.3492G>T (p.Trp1164Cys)	PALB2 (W1164C)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GConflicting classifications of pathogenicity
Select item 126744	NM_024675.4(PALB2):c.3483T>C (p.Phe1161=)	PALB2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 128142	NM_024675.4(PALB2):c.3456dup (p.Pro1153fs)	PALB2 (P1153fs)	Duplication (frameshift variant)	not provided +4 more	GPathogenic
Select item 141936	NM_024675.4(PALB2):c.3449T>G (p.Leu1150Arg)	PALB2 (L1150R)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GUncertain significance
Select item 126740	NM_024675.4(PALB2):c.3428T>A (p.Leu1143His)	PALB2 (L1143H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 371840	NM_024675.4(PALB2):c.3425del (p.Leu1142fs)	PALB2 (L1142fs)	Deletion (frameshift variant)	Familial cancer of breast +2 more	GPathogenic/Likely pathogenic
Select item 182775	NM_024675.4(PALB2):c.3404G>A (p.Gly1135Glu)	PALB2 (G1135E)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 229790	NM_024675.4(PALB2):c.3392T>C (p.Ile1131Thr)	PALB2 (I1131T)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 220669	NM_024675.4(PALB2):c.3373G>T (p.Asp1125Tyr)	PALB2 (D1125Y)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 136137	NM_024675.4(PALB2):c.3366C>T (p.Asp1122=)	PALB2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 126738	NM_024675.4(PALB2):c.3356T>C (p.Leu1119Pro)	PALB2 (L1119P)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 371998	NM_024675.4(PALB2):c.3351-10A>G	PALB2	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
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 126734	NM_024675.4(PALB2):c.3323del (p.Tyr1108fs)	PALB2	Deletion (frameshift variant)	Fanconi anemia complementation group N +5 more	GPathogenic
Select item 220948	NM_024675.4(PALB2):c.3310G>A (p.Gly1104Ser)	PALB2 (G1104S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 141974	NM_024675.4(PALB2):c.3307G>C (p.Val1103Leu)	PALB2 (V1103L)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +7 more	GConflicting classifications of pathogenicity
Select item 126731	NM_024675.4(PALB2):c.3306C>G (p.Ser1102Arg)	PALB2 (S1102R)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 142504	NM_024675.4(PALB2):c.3296C>G (p.Thr1099Arg)	PALB2 (T1099R)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 184242	NM_024675.4(PALB2):c.3282G>A (p.Val1094=)	PALB2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 142035	NM_024675.4(PALB2):c.3257G>A (p.Arg1086Gln)	PALB2 (R1086Q)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 371971	NM_024675.4(PALB2):c.3256del (p.Arg1086fs)	PALB2 (R1086fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 126727	NM_024675.4(PALB2):c.3251C>T (p.Ser1084Leu)	PALB2 (S1084L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 126726	NM_024675.4(PALB2):c.3249G>C (p.Glu1083Asp)	PALB2 (E1083D)	Single nucleotide variant (missense variant)	Familial cancer of breast	GBenign FDA Recognized database
Select item 216753	NM_024675.4(PALB2):c.3247G>A (p.Glu1083Lys)	PALB2 (E1083K)	Single nucleotide variant (missense variant)	Familial cancer of breast +6 more	GUncertain significance
Select item 371966	NM_024675.4(PALB2):c.3202-1G>A	PALB2	Single nucleotide variant (intron variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 402306	NM_024675.4(PALB2):c.3202-2A>C	PALB2	Single nucleotide variant (intron variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely pathogenic
Select item 371952	NM_024675.4(PALB2):c.3201+20G>T	PALB2	Single nucleotide variant (intron variant)	Familial cancer of breast +1 more	GLikely benign
Select item 141785	NM_024675.4(PALB2):c.3146T>C (p.Met1049Thr)	PALB2 (M1049T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 126715	NM_024675.4(PALB2):c.3116del (p.Asn1039fs)	PALB2	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +6 more	GPathogenic/Likely pathogenic
Select item 126711	NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter)	PALB2 (W1038*)	Single nucleotide variant (nonsense)	Familial cancer of breast	GPathogenic FDA Recognized database
Select item 188131	NM_024675.4(PALB2):c.3106G>C (p.Val1036Leu)	PALB2 (V1036L)	Single nucleotide variant (missense variant)	Familial cancer of breast +5 more	GUncertain significance
Select item 216750	NM_024675.4(PALB2):c.3103A>G (p.Ile1035Val)	PALB2 (I1035V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 230665	NM_024675.4(PALB2):c.3061G>A (p.Gly1021Arg)	PALB2 (G1021R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
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 126707	NM_024675.4(PALB2):c.3048del (p.Phe1016fs)	PALB2 (F1016fs)	Deletion (frameshift variant)	Familial cancer of breast +5 more	GPathogenic/Likely pathogenic
Select item 410122	NM_024675.4(PALB2):c.3035C>T (p.Thr1012Ile)	PALB2 (T1012I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 265633	NM_024675.4(PALB2):c.3017del (p.Phe1005_Leu1006insTer)	PALB2	Deletion (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 126701	NM_024675.4(PALB2):c.2996+17T>C	PALB2	Single nucleotide variant (intron variant)	Familial cancer of breast +7 more	GBenign/Likely benign
Select item 215934	NM_024675.4(PALB2):c.2996+9del	PALB2	Deletion (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 246286	NM_024675.4(PALB2):c.2996+5G>T	PALB2	Single nucleotide variant (intron variant)	Familial cancer of breast +2 more	GConflicting classifications of pathogenicity
Select item 126699	NM_024675.4(PALB2):c.2993G>A (p.Gly998Glu)	PALB2 (G998E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GBenign/Likely benign
Select item 126697	NM_024675.4(PALB2):c.2982dup (p.Ala995fs)	PALB2 (A995fs)	Duplication (frameshift variant)	Familial cancer of breast +2 more	GPathogenic/Likely pathogenic
Select item 230356	NM_024675.4(PALB2):c.2965G>A (p.Val989Ile)	PALB2 (V989I)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 1246	NM_024675.4(PALB2):c.2962C>T (p.Gln988Ter)	PALB2 (Q988*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 182772	NM_024675.4(PALB2):c.2922G>T (p.Lys974Asn)	PALB2 (K974N)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 126696	NM_024675.4(PALB2):c.2920_2921del (p.Lys974fs)	PALB2	Deletion (frameshift variant)	not provided +5 more	GPathogenic
Select item 128136	NM_024675.4(PALB2):c.2897T>C (p.Ile966Thr)	PALB2 (I966T)	Single nucleotide variant (missense variant)	Familial cancer of breast +6 more	GConflicting classifications of pathogenicity
Select item 126692	NM_024675.4(PALB2):c.2859T>C (p.Asp953=)	PALB2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 241552	NM_024675.4(PALB2):c.2836G>T (p.Ala946Ser)	PALB2 (A946S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 138576	NM_024675.4(PALB2):c.2834+18A>T	PALB2	Single nucleotide variant (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 143968	NM_024675.4(PALB2):c.2834+1G>T	PALB2	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 126683	NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp)	PALB2 (L939W)	Single nucleotide variant (missense variant)	Familial cancer of breast +6 more	GConflicting classifications of pathogenicity
Select item 126681	NM_024675.4(PALB2):c.2773G>C (p.Val925Leu)	PALB2 (V925L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 126679	NM_024675.4(PALB2):c.2752C>T (p.Pro918Ser)	PALB2 (P918S)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GConflicting classifications of pathogenicity
Select item 421092	NM_024675.4(PALB2):c.2749-16_2749-14del	PALB2	Microsatellite (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 126678	NM_024675.4(PALB2):c.2749-18C>T	PALB2	Single nucleotide variant (intron variant)	Familial cancer of breast +5 more	GConflicting classifications of pathogenicity
Select item 372046	NM_024675.4(PALB2):c.2748+13C>G	PALB2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 372056	NM_024675.4(PALB2):c.2748+1G>C	PALB2	Single nucleotide variant (splice donor variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 126672	NM_024675.4(PALB2):c.2674G>A (p.Glu892Lys)	PALB2 (E892K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 241549	NM_024675.4(PALB2):c.2653C>A (p.Pro885Thr)	PALB2 (P885T)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 142328	NM_024675.4(PALB2):c.2619T>G (p.Ser873Arg)	PALB2 (S873R)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 126670	NM_024675.4(PALB2):c.2612A>G (p.Asp871Gly)	PALB2 (D871G)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GUncertain significance
Select item 142746	NM_024675.4(PALB2):c.2608G>A (p.Val870Ile)	PALB2 (V870I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 136135	NM_024675.4(PALB2):c.2607C>T (p.Ser869=)	PALB2	Single nucleotide variant (synonymous variant)	Breast and/or ovarian cancer +4 more	GBenign/Likely benign
Select item 126661	NM_024675.4(PALB2):c.2586+10A>G	PALB2	Single nucleotide variant (intron variant)	Familial cancer of breast +5 more	GConflicting classifications of pathogenicity
Select item 371797	NM_024675.4(PALB2):c.2576C>A (p.Ser859Ter)	PALB2 (S859*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 418397	NM_024675.4(PALB2):c.2514+20_2514+21del	PALB2	Microsatellite (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 142756	NM_024675.4(PALB2):c.2507_2509del (p.Val836del)	PALB2	Deletion (inframe_deletion)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 187271	NM_024675.4(PALB2):c.2508C>G (p.Val836=)	PALB2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 185041	NM_024675.4(PALB2):c.2478C>T (p.Asn826=)	PALB2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 220617	NM_024675.4(PALB2):c.2469C>G (p.Leu823=)	PALB2	Single nucleotide variant (synonymous variant)	Familial cancer of breast +2 more	GBenign/Likely benign
Select item 487407	NM_024675.4(PALB2):c.2456_2463del (p.Lys819fs)	PALB2 (K819fs)	Deletion (frameshift variant)	Familial cancer of breast +1 more	GPathogenic/Likely pathogenic
Select item 134995	NM_024675.4(PALB2):c.2456A>G (p.Lys819Arg)	PALB2 (K819R)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 183712	NM_024675.4(PALB2):c.2453T>C (p.Phe818Ser)	PALB2 (F818S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 141063	NM_024675.4(PALB2):c.2417C>T (p.Pro806Leu)	PALB2 (P806L)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 231143	NM_024675.4(PALB2):c.2411_2412del (p.Ser804fs)	PALB2 (S804fs)	Microsatellite (frameshift variant)	Fanconi anemia complementation group N +4 more	GPathogenic/Likely pathogenic
Select item 142850	NM_024675.4(PALB2):c.2401G>A (p.Asp801Asn)	PALB2 (D801N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 126649	NM_024675.4(PALB2):c.2386G>T (p.Gly796Ter)	PALB2 (G796*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 216745	NM_024675.4(PALB2):c.2360C>T (p.Thr787Ile)	PALB2 (T787I)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 182768	NM_024675.4(PALB2):c.2353C>T (p.Pro785Ser)	PALB2 (P785S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 186458	NM_024675.4(PALB2):c.2336C>G (p.Ser779Ter)	PALB2 (S779*)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 490075	NM_024675.4(PALB2):c.2305_2334del (p.Leu769_Ser778del)	PALB2	Deletion (inframe_deletion)	Familial cancer of breast +1 more	GUncertain significance
Select item 182767	NM_024675.4(PALB2):c.2329G>A (p.Asp777Asn)	PALB2 (D777N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 419746	NM_024675.4(PALB2):c.2326T>C (p.Phe776Leu)	PALB2 (F776L)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 126646	NM_024675.4(PALB2):c.2323C>T (p.Gln775Ter)	PALB2 (Q775*)	Single nucleotide variant (nonsense)	Malignant tumor of breast +3 more	GPathogenic
Select item 186302	NM_024675.4(PALB2):c.2311A>G (p.Ser771Gly)	PALB2 (S771G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 232125	NM_024675.4(PALB2):c.2288_2291del (p.His762_Leu763insTer)	PALB2	Deletion (nonsense)	Familial cancer of breast +3 more	GPathogenic/Likely pathogenic
Select item 134996	NM_024675.4(PALB2):c.2258G>A (p.Arg753Gln)	PALB2 (R753Q)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 142403	NM_024675.4(PALB2):c.2257C>T (p.Arg753Ter)	PALB2 (R753*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 5 +7 more	GPathogenic
Select item 185271	NM_024675.4(PALB2):c.2208C>A (p.Ala736=)	PALB2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 482049	NM_024675.4(PALB2):c.2197ACT[1] (p.Thr734del)	PALB2 (T734del)	Microsatellite (inframe_deletion)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 241541	NM_024675.4(PALB2):c.2201C>A (p.Thr734Asn)	PALB2 (T734N)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 126640	NM_024675.4(PALB2):c.2200A>T (p.Thr734Ser)	PALB2 (T734S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 136132	NM_024675.4(PALB2):c.2167_2168del (p.Met723fs)	PALB2	Deletion (frameshift variant)	Familial cancer of breast +8 more	GPathogenic

<< First< Prev

Page of 3