ClinVar for MedGen (Select 372133) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2692687	NM_024675.4(PALB2):c.3202-13T>C	PALB2	Single nucleotide variant (intron variant)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 2584866	NM_024675.4(PALB2):c.2835-2A>G	PALB2	Single nucleotide variant (splice acceptor variant +1 more)	Fanconi anemia complementation group N +1 more	GLikely pathogenic
Select item 1617787	NM_024675.4(PALB2):c.2587-12C>T	PALB2	Single nucleotide variant (intron variant)	Familial cancer of breast +2 more	GLikely benign
Select item 1617379	NM_024675.4(PALB2):c.1482T>C (p.Thr494=)	PALB2	Single nucleotide variant (synonymous variant)	Familial cancer of breast +2 more	GLikely benign
Select item 1455414	NM_024675.4(PALB2):c.2350A>T (p.Lys784Ter)	PALB2 (K784*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1323412	NM_024675.4(PALB2):c.1188C>A (p.Cys396Ter)	PALB2 (C396*)	Single nucleotide variant (nonsense)	Familial cancer of breast +1 more	GPathogenic
Select item 1321058	NM_024675.4(PALB2):c.437G>A (p.Arg146Lys)	PALB2 (R146K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 1210162	NM_024675.4(PALB2):c.3114-16_3114-11del	PALB2	Deletion (intron variant)	Fanconi anemia complementation group N	GPathogenic
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 1086997	NM_024675.4(PALB2):c.108+7_108+8delinsAT	PALB2	Indel (intron variant)	Familial cancer of breast +2 more	GLikely benign
Select item 1012396	NM_024675.4(PALB2):c.2216C>T (p.Pro739Leu)	PALB2 (P739L)	Single nucleotide variant (missense variant)	Pancreatic cancer, susceptibility to, 3 +2 more	GUncertain significance
Select item 946075	NM_024675.4(PALB2):c.359G>C (p.Arg120Thr)	PALB2 (R120T)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 925492	NM_024675.4(PALB2):c.2834+13C>G	PALB2	Single nucleotide variant (intron variant)	Pancreatic cancer, susceptibility to, 3 +3 more	GLikely benign
Select item 888490	NM_024675.4(PALB2):c.-108C>A	PALB2	Single nucleotide variant (5 prime UTR variant)	Fanconi anemia complementation group N	GUncertain significance
Select item 888489	NM_024675.4(PALB2):c.-37C>T	PALB2	Single nucleotide variant (5 prime UTR variant)	Fanconi anemia complementation group N	GUncertain significance
Select item 888368	NM_024675.4(PALB2):c.3402T>A (p.Ser1134=)	PALB2	Single nucleotide variant (synonymous variant)	Familial cancer of breast +2 more	GConflicting classifications of pathogenicity
Select item 830202	NM_024675.4(PALB2):c.3294_3298del (p.Lys1098fs)	PALB2 (K1098fs)	Deletion (frameshift variant)	Fanconi anemia complementation group N	GPathogenic
Select item 830187	NM_024675.4(PALB2):c.3049G>A (p.Ala1017Thr)	PALB2 (A1017T)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance FDA Recognized database
Select item 830085	NG_007406.1:g.(5249_8228)_(17155_19960)del	PALB2	Deletion	Fanconi anemia complementation group N	GPathogenic
Select item 830081	NC_000016.10:g.(23614092_23621361)_(23641357_?)del	PALB2	Deletion	Fanconi anemia complementation group N	GPathogenic
Select item 827257	NM_024675.4(PALB2):c.779A>G (p.Gln260Arg)	PALB2 (Q260R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 824342	NM_024675.4(PALB2):c.388C>T (p.His130Tyr)	PALB2 (H130Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 822315	NM_024675.4(PALB2):c.833T>A (p.Leu278Gln)	PALB2 (L278Q)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GConflicting classifications of pathogenicity
Select item 818899	NM_024675.4(PALB2):c.1318T>C (p.Phe440Leu)	PALB2 (F440L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group N +3 more	GUncertain significance
Select item 818541	NM_024675.4(PALB2):c.1189A>C (p.Thr397Pro)	PALB2 (T397P)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GUncertain significance
Select item 818370	NM_024675.4(PALB2):c.1104T>A (p.Asn368Lys)	PALB2 (N368K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 665824	NM_024675.4(PALB2):c.3332C>T (p.Pro1111Leu)	PALB2 (P1111L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group N +3 more	GUncertain significance
Select item 641703	NM_024675.4(PALB2):c.2785_2786delinsAT (p.Tyr929Ile)	PALB2 (Y929I)	Indel (missense variant)	Familial cancer of breast +3 more	GUncertain significance
Select item 631241	NM_024675.4(PALB2):c.1997C>T (p.Thr666Ile)	PALB2 (T666I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 630453	NM_024675.4(PALB2):c.1862C>T (p.Pro621Leu)	PALB2 (P621L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 629080	NM_024675.4(PALB2):c.2827G>A (p.Glu943Lys)	PALB2 (E943K)	Single nucleotide variant (missense variant)	Pancreatic cancer, susceptibility to, 3 +3 more	GUncertain significance
Select item 629043	NM_024675.4(PALB2):c.168T>C (p.Asp56=)	PALB2	Single nucleotide variant (synonymous variant)	Familial cancer of breast +3 more	GLikely benign
Select item 628628	NM_024675.4(PALB2):c.2336C>T (p.Ser779Leu)	PALB2 (S779L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 582054	NM_024675.4(PALB2):c.321T>G (p.Phe107Leu)	PALB2 (F107L)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 576302	NM_024675.4(PALB2):c.2659A>G (p.Ile887Val)	PALB2 (I887V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group N +3 more	GUncertain significance
Select item 574028	NM_024675.4(PALB2):c.3037A>G (p.Ile1013Val)	PALB2 (I1013V)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GConflicting classifications of pathogenicity
Select item 572721	NM_024675.4(PALB2):c.113C>T (p.Ala38Val)	PALB2 (A38V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 571957	NM_024675.4(PALB2):c.1150G>A (p.Glu384Lys)	PALB2 (E384K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 566330	NM_024675.4(PALB2):c.2540C>G (p.Ser847Cys)	PALB2 (S847C)	Single nucleotide variant (missense variant)	Pancreatic cancer, susceptibility to, 3 +3 more	GConflicting classifications of pathogenicity
Select item 530189	NM_024675.4(PALB2):c.2430_2431del (p.Pro811fs)	PALB2 (P811fs)	Deletion (frameshift variant)	Familial cancer of breast +3 more	GPathogenic/Likely pathogenic
Select item 530136	NM_024675.4(PALB2):c.2267G>A (p.Cys756Tyr)	PALB2 (C756Y)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group N +3 more	GConflicting classifications of pathogenicity
Select item 530124	NM_024675.4(PALB2):c.2804C>G (p.Ala935Gly)	PALB2 (A935G)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 530106	NM_024675.4(PALB2):c.2777C>T (p.Pro926Leu)	PALB2 (P926L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 530081	NM_024675.4(PALB2):c.2861A>G (p.Glu954Gly)	PALB2 (E954G)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 517000	NM_024675.4(PALB2):c.1164T>C (p.Pro388=)	PALB2	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group N +4 more	GLikely benign
Select item 516437	NM_024675.4(PALB2):c.2834+13C>A	PALB2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GLikely benign
Select item 492208	NM_024675.4(PALB2):c.303T>G (p.Asp101Glu)	PALB2 (D101E)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group N +2 more	GUncertain significance
Select item 492207	NM_024675.4(PALB2):c.2996+14T>G	PALB2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
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 490070	NM_024675.4(PALB2):c.1684+11A>G	PALB2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 490066	NM_024675.4(PALB2):c.1130A>C (p.Gln377Pro)	PALB2 (Q377P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 490064	NM_024675.4(PALB2):c.109-12T>A	PALB2	Single nucleotide variant (intron variant)	Fanconi anemia complementation group N +3 more	GConflicting classifications of pathogenicity
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 484184	NM_024675.4(PALB2):c.1530A>C (p.Arg510Ser)	PALB2 (R510S)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GUncertain significance
Select item 484159	NM_024675.4(PALB2):c.2920A>G (p.Lys974Glu)	PALB2 (K974E)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GUncertain significance
Select item 482037	NM_024675.4(PALB2):c.1802A>G (p.Lys601Arg)	PALB2 (K601R)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GUncertain significance
Select item 482025	NM_024675.4(PALB2):c.603T>A (p.Ser201Arg)	PALB2 (S201R)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GUncertain significance
Select item 482023	NM_024675.4(PALB2):c.968C>T (p.Ala323Val)	PALB2 (A323V)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GUncertain significance
Select item 480285	NM_024675.4(PALB2):c.1340C>A (p.Ala447Glu)	PALB2 (A447E)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GUncertain significance
Select item 480232	NM_024675.4(PALB2):c.2234A>G (p.Lys745Arg)	PALB2 (K745R)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 461024	NM_024675.4(PALB2):c.828C>T (p.His276=)	PALB2	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group N +3 more	GConflicting classifications of pathogenicity
Select item 461019	NM_024675.4(PALB2):c.718C>A (p.Pro240Thr)	PALB2 (P240T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 460993	NM_024675.4(PALB2):c.3394T>C (p.Leu1132=)	PALB2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 460982	NM_024675.4(PALB2):c.3217G>T (p.Val1073Phe)	PALB2 (V1073F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 460961	NM_024675.4(PALB2):c.2821A>G (p.Ile941Val)	PALB2 (I941V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 460959	NM_024675.4(PALB2):c.2784G>A (p.Val928=)	PALB2	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 460958	NM_024675.4(PALB2):c.2774T>C (p.Val925Ala)	PALB2 (V925A)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GUncertain significance
Select item 460917	NM_024675.4(PALB2):c.18G>A (p.Gly6=)	PALB2	Single nucleotide variant (synonymous variant)	Familial cancer of breast +3 more	GBenign/Likely benign
Select item 460903	NM_024675.4(PALB2):c.1628A>C (p.Lys543Thr)	PALB2 (K543T)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 460897	NM_024675.4(PALB2):c.1490del (p.Asn497fs)	PALB2 (N497fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 422509	NM_024675.4(PALB2):c.2878del (p.Leu960fs)	PALB2	Deletion (frameshift variant)	Familial cancer of breast +4 more	GPathogenic/Likely pathogenic
Select item 421293	NM_024675.4(PALB2):c.3220C>G (p.Leu1074Val)	PALB2 (L1074V)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GUncertain significance
Select item 419928	NM_024675.4(PALB2):c.3025C>T (p.Pro1009Ser)	PALB2 (P1009S)	Single nucleotide variant (missense variant)	PALB2-related disorder +5 more	GUncertain significance
Select item 418604	NM_024675.4(PALB2):c.2411C>T (p.Ser804Phe)	PALB2 (S804F)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 415991	NM_024675.4(PALB2):c.2424A>C (p.Gly808=)	PALB2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 415976	NM_024675.4(PALB2):c.3432C>T (p.Leu1144=)	PALB2	Single nucleotide variant (synonymous variant)	PALB2-related disorder +6 more	GLikely benign
Select item 410201	NM_024675.4(PALB2):c.510A>C (p.Arg170Ser)	PALB2 (R170S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 410199	NM_024675.4(PALB2):c.2263T>C (p.Cys755Arg)	PALB2 (C755R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 410196	NM_024675.4(PALB2):c.3325T>C (p.Cys1109Arg)	PALB2 (C1109R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 410178	NM_024675.4(PALB2):c.2231A>G (p.Glu744Gly)	PALB2 (E744G)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GUncertain significance
Select item 410177	NM_024675.4(PALB2):c.2129C>T (p.Thr710Met)	PALB2 (T710M)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 410165	NM_024675.4(PALB2):c.2730T>A (p.Tyr910Ter)	PALB2 (Y910*)	Single nucleotide variant (nonsense)	Familial cancer of breast +4 more	GPathogenic/Likely pathogenic
Select item 410162	NM_024675.4(PALB2):c.3296C>T (p.Thr1099Met)	PALB2 (T1099M)	Single nucleotide variant (missense variant)	Familial cancer of breast +6 more	GUncertain significance
Select item 410161	NM_024675.4(PALB2):c.1492G>A (p.Asp498Asn)	PALB2 (D498N)	Single nucleotide variant (missense variant)	Familial cancer of breast +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 410128	NM_024675.4(PALB2):c.2375C>G (p.Ser792Ter)	PALB2 (S792*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group N +1 more	GPathogenic/Likely pathogenic
Select item 410118	NM_024675.4(PALB2):c.1537A>G (p.Thr513Ala)	PALB2 (T513A)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group N +4 more	GUncertain significance
Select item 410109	NM_024675.4(PALB2):c.1696C>T (p.Arg566Cys)	PALB2 (R566C)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 410107	NM_024675.4(PALB2):c.127A>G (p.Lys43Glu)	PALB2 (K43E)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 410106	NM_024675.4(PALB2):c.1759G>A (p.Ala587Thr)	PALB2 (A587T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 410105	NM_024675.4(PALB2):c.1383T>A (p.Ser461Arg)	PALB2 (S461R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 402302	NM_024675.4(PALB2):c.2832del (p.Arg945fs)	PALB2 (R945fs)	Deletion (frameshift variant)	Fanconi anemia complementation group N +2 more	GPathogenic/Likely pathogenic
Select item 402299	NM_024675.4(PALB2):c.2473A>G (p.Arg825Gly)	PALB2 (R825G)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GConflicting classifications of pathogenicity
Select item 402288	NM_024675.4(PALB2):c.106C>T (p.Gln36Ter)	PALB2 (Q36*)	Single nucleotide variant (nonsense)	Familial cancer of breast +4 more	GPathogenic
Select item 381230	NM_024675.4(PALB2):c.66A>G (p.Ala22=)	PALB2	Single nucleotide variant (synonymous variant)	Familial cancer of breast +3 more	GConflicting classifications of pathogenicity
Select item 378317	NM_024675.4(PALB2):c.1611G>A (p.Ser537=)	PALB2	Single nucleotide variant (synonymous variant)	Familial cancer of breast +3 more	GConflicting classifications of pathogenicity
Select item 372017	NM_024675.4(PALB2):c.212-24TA[4]	PALB2	Microsatellite (intron variant)	not provided +4 more	GBenign/Likely benign
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 318562	NM_024675.4(PALB2):c.-149G>A	PALB2	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 318561	NM_024675.4(PALB2):c.113C>G (p.Ala38Gly)	PALB2 (A38G)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group N +2 more	GUncertain significance

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