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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 58626	GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3	DCTPP1, DOC2A +409 more	Copy number gain	See cases	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 3340220	NM_024675.4(PALB2):c.3550C>A (p.His1184Asn)	PALB2 (H1091N +10 more)	Single nucleotide variant (missense variant +1 more)	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)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 141728	NM_024675.4(PALB2):c.3542T>C (p.Phe1181Ser)	PALB2 (F1181S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 126747	NM_024675.4(PALB2):c.3539T>C (p.Ile1180Thr)	PALB2 (I1180T)	Single nucleotide variant (missense variant)	not provided +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 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 439235	NM_024675.4(PALB2):c.3517G>T (p.Ala1173Ser)	PALB2 (A1173S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
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 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 482010	NM_024675.4(PALB2):c.3500C>T (p.Thr1167Ile)	PALB2 (T1167I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 507527	NM_024675.4(PALB2):c.3495G>C (p.Ser1165=)	PALB2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 126745	NM_024675.4(PALB2):c.3495G>A (p.Ser1165=)	PALB2	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 232781	NM_024675.4(PALB2):c.3494C>T (p.Ser1165Leu)	PALB2 (S1165L)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GUncertain significance
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 246129	NM_024675.4(PALB2):c.3491G>A (p.Trp1164Ter)	PALB2 (W1164*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 410133	NM_024675.4(PALB2):c.3484G>A (p.Val1162Met)	PALB2 (V1162M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 460996	NM_024675.4(PALB2):c.3476G>T (p.Trp1159Leu)	PALB2 (W1159L)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GConflicting classifications of pathogenicity
Select item 234009	NM_024675.4(PALB2):c.3475T>C (p.Trp1159Arg)	PALB2 (W1159R)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GUncertain significance
Select item 378321	NM_024675.4(PALB2):c.3474T>C (p.His1158=)	PALB2	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 182777	NM_024675.4(PALB2):c.3474T>A (p.His1158Gln)	PALB2 (H1158Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 402308	NM_024675.4(PALB2):c.3464C>G (p.Ser1155Cys)	PALB2 (S1155C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2503305	NM_024675.4(PALB2):c.3457C>G (p.Pro1153Ala)	PALB2 (P1060A +10 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 128142	NM_024675.4(PALB2):c.3456dup (p.Pro1153fs)	PALB2 (P1153fs)	Duplication (frameshift variant)	not provided +4 more	GPathogenic
Select item 182776	NM_024675.4(PALB2):c.3452T>A (p.Leu1151His)	PALB2 (L1151H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 187089	NM_024675.4(PALB2):c.3451C>T (p.Leu1151Phe)	PALB2 (L1151F)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
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 511935	NM_024675.4(PALB2):c.3444T>C (p.Thr1148=)	PALB2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 546008	NM_024675.4(PALB2):c.3441T>A (p.Cys1147Ter)	PALB2 (C1147*)	Single nucleotide variant (nonsense)	Familial cancer of breast +3 more	GPathogenic
Select item 1050209	NM_024675.4(PALB2):c.3437A>T (p.Gln1146Leu)	PALB2 (Q1146L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 128141	NM_024675.4(PALB2):c.3437A>G (p.Gln1146Arg)	PALB2 (Q1146R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 246373	NM_024675.4(PALB2):c.3436C>G (p.Gln1146Glu)	PALB2 (Q1146E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 245984	NM_024675.4(PALB2):c.3436C>A (p.Gln1146Lys)	PALB2 (Q1146K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 823769	NM_024675.4(PALB2):c.3434G>A (p.Gly1145Asp)	PALB2 (G1145D)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 681706	NM_024675.4(PALB2):c.3432C>A (p.Leu1144=)	PALB2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 415976	NM_024675.4(PALB2):c.3432C>T (p.Leu1144=)	PALB2	Single nucleotide variant (synonymous variant)	not specified +5 more	GLikely benign
Select item 390708	NM_024675.4(PALB2):c.3432C>G (p.Leu1144=)	PALB2	Single nucleotide variant (synonymous variant)	Familial cancer of breast +2 more	GLikely benign
Select item 185799	NM_024675.4(PALB2):c.3426_3429del (p.Leu1142fs)	PALB2 (L1142fs)	Microsatellite (frameshift variant)	not provided +3 more	GPathogenic
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 143974	NM_024675.4(PALB2):c.3426dup (p.Leu1143fs)	PALB2 (L1143fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 546010	NM_024675.4(PALB2):c.3425T>A (p.Leu1142Ter)	PALB2 (L1142*)	Single nucleotide variant (nonsense)	Familial cancer of breast +1 more	GPathogenic
Select item 422752	NM_024675.4(PALB2):c.3421G>A (p.Asp1141Asn)	PALB2 (D1141N)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 183828	NM_024675.4(PALB2):c.3418T>G (p.Trp1140Gly)	PALB2 (W1140G)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GUncertain significance
Select item 823746	NM_024675.4(PALB2):c.3415A>G (p.Ile1139Val)	PALB2 (I1139V)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1036197	NM_024675.4(PALB2):c.3413C>G (p.Ala1138Gly)	PALB2 (A1138G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 231889	NM_024675.4(PALB2):c.3412G>A (p.Ala1138Thr)	PALB2 (A1138T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 841057	NM_024675.4(PALB2):c.3410T>C (p.Ile1137Thr)	PALB2 (I1137T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 3363690	NM_024675.4(PALB2):c.3409A>G (p.Ile1137Val)	PALB2 (I1044V +10 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 233686	NM_024675.4(PALB2):c.3374_3395del (p.Asp1125fs)	PALB2	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 460993	NM_024675.4(PALB2):c.3394T>C (p.Leu1132=)	PALB2	Single nucleotide variant (synonymous variant)	Familial cancer of breast +3 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 410163	NM_024675.4(PALB2):c.3391A>G (p.Ile1131Val)	PALB2 (I1131V)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GConflicting classifications of pathogenicity
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 185518	NM_024675.4(PALB2):c.3367G>A (p.Val1123Met)	PALB2 (V1123M)	Single nucleotide variant (missense variant)	not provided +4 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 449880	NM_024675.4(PALB2):c.3365A>T (p.Asp1122Val)	PALB2 (D1122V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 126739	NM_024675.4(PALB2):c.3362del (p.Gly1121fs)	PALB2	Deletion (frameshift variant)	Familial cancer of breast	GLikely pathogenic FDA Recognized database
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 410152	NM_024675.4(PALB2):c.3351-2A>G	PALB2	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3367432	NM_024675.4(PALB2):c.3351-3C>G	PALB2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 481026	NM_024675.4(PALB2):c.3351-5A>G	PALB2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 391935	NM_024675.4(PALB2):c.3351-9T>C	PALB2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 803230	NM_024675.4(PALB2):c.3351-48G>T	PALB2	Single nucleotide variant (intron variant)	Familial cancer of breast +1 more	GBenign/Likely benign
Select item 1231515	NM_024675.4(PALB2):c.3351-53del	PALB2	Deletion (intron variant)	not provided	GBenign
Select item 126735	NM_024675.4(PALB2):c.3350+11A>G	PALB2	Single nucleotide variant (intron variant)	Fanconi anemia complementation group N +2 more	GConflicting classifications of pathogenicity
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 460990	NM_024675.4(PALB2):c.3324C>G (p.Tyr1108Ter)	PALB2 (Y1108*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 450256	NM_024675.4(PALB2):c.3324C>A (p.Tyr1108Ter)	PALB2 (Y1108*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GLikely pathogenic
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 142465	NM_024675.4(PALB2):c.3320T>C (p.Leu1107Pro)	PALB2 (L1107P)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 460989	NM_024675.4(PALB2):c.3317T>C (p.Met1106Thr)	PALB2 (M1106T)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 681024	NM_024675.4(PALB2):c.3312T>C (p.Gly1104=)	PALB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 402307	NM_024675.4(PALB2):c.3311del (p.Gly1104fs)	PALB2 (G1104fs)	Deletion (frameshift variant)	not provided +1 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 1320743	NM_024675.4(PALB2):c.3308T>G (p.Val1103Gly)	PALB2 (V1103G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 460986	NM_024675.4(PALB2):c.3299_3306dup (p.Val1103fs)	PALB2 (V1103fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
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 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 265572	NM_024675.4(PALB2):c.3295_3301del (p.Thr1099fs)	PALB2 (T1099fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 126730	NM_024675.4(PALB2):c.3300T>G (p.Thr1100=)	PALB2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 5 +7 more	GBenign/Likely benign
Select item 184415	NM_024675.4(PALB2):c.3297G>A (p.Thr1099=)	PALB2	Single nucleotide variant (synonymous variant)	Familial cancer of breast +7 more	GLikely benign
Select item 410162	NM_024675.4(PALB2):c.3296C>T (p.Thr1099Met)	PALB2 (T1099M)	Single nucleotide variant (missense variant)	Familial cancer of breast +5 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 140834	NM_024675.4(PALB2):c.3290C>G (p.Pro1097Arg)	PALB2 (P1097R)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 220310	NM_024675.4(PALB2):c.3286_3289delinsGTTAATGA (p.Asn1096fs)	PALB2 (N1096fs)	Indel (frameshift variant)	not provided +3 more	GPathogenic
Select item 422428	NM_024675.4(PALB2):c.3286A>G (p.Asn1096Asp)	PALB2 (N1096D)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 182774	NM_024675.4(PALB2):c.3278T>C (p.Ile1093Thr)	PALB2 (I1093T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 410187	NM_024675.4(PALB2):c.3256C>G (p.Arg1086Gly)	PALB2 (R1086G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 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 126729	NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter)	PALB2 (R1086*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +9 more	GPathogenic/Likely pathogenic
Select item 126728	NM_024675.4(PALB2):c.3252G>A (p.Ser1084=)	PALB2	Single nucleotide variant (synonymous variant)	Familial cancer of breast +5 more	GBenign/Likely benign

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