prunus palmero - ClinVar

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Items: 71

The following term was not found in ClinVar: prunus.
Showing results for Prunus palmeri. Search instead for Prunus palmeri (0)

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 5374	NM_005989.4(AKR1D1):c.593C>T (p.Pro198Leu)	AKR1D1 (P198L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 51069	NM_000059.4(BRCA2):c.1128del (p.Phe376fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51070	NM_000059.4(BRCA2):c.1138del (p.Ser380fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37731	NM_000059.4(BRCA2):c.1238del (p.Leu413fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37756	NM_000059.4(BRCA2):c.1796_1800del (p.Thr598_Ser599insTer)	BRCA2	Deletion (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 531247	NM_000059.4(BRCA2):c.2842G>A (p.Val948Ile)	BRCA2 (V948I)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 51359	NM_000059.4(BRCA2):c.2845del (p.Tyr949fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 254513	NM_000059.4(BRCA2):c.3046G>T (p.Glu1016Ter)	BRCA2 (E1016*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51504	NM_000059.4(BRCA2):c.3680_3681del (p.Leu1227fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 629211	NM_000059.4(BRCA2):c.3879_3880del (p.Leu1294fs)	BRCA2 (L1294fs)	Microsatellite (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 51578	NM_000059.4(BRCA2):c.3975_3978dup (p.Ala1327fs)	BRCA2 (A1327fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51581	NM_000059.4(BRCA2):c.4005dup (p.Phe1336fs)	BRCA2 (F1336fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37889	NM_000059.4(BRCA2):c.4222C>T (p.Gln1408Ter)	BRCA2 (Q1408*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37892	NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs)	BRCA2 (Q1429fs)	Duplication	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51718	NM_000059.4(BRCA2):c.4808del (p.Asn1603fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51721	NM_000059.4(BRCA2):c.4829_4830del (p.Val1610fs)	BRCA2 (V1610fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 91830	NM_000059.4(BRCA2):c.4964dup (p.Tyr1655Ter)	BRCA2 (Y1655*)	Duplication (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37943	NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)	BRCA2 (W1692fs)	Duplication	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51765	NM_000059.4(BRCA2):c.5096A>G (p.Asp1699Gly)	BRCA2 (D1699G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 37961	NM_000059.4(BRCA2):c.5351del (p.Asn1784fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51897	NM_000059.4(BRCA2):c.5641_5644del (p.Lys1881fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 254561	NM_000059.4(BRCA2):c.5644_5647del (p.Ser1882fs)	BRCA2 (S1882fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37988	NM_000059.4(BRCA2):c.5681dup (p.Tyr1894Ter)	BRCA2 (Y1894*)	Duplication	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37996	NM_000059.4(BRCA2):c.5782G>T (p.Glu1928Ter)	BRCA2 (E1928*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 266895	NM_000059.4(BRCA2):c.5800C>T (p.Gln1934Ter)	BRCA2 (Q1934*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52149	NM_000059.4(BRCA2):c.6656C>G (p.Ser2219Ter)	BRCA2 (S2219*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52517	NM_000059.4(BRCA2):c.8171G>T (p.Gly2724Val)	BRCA2 (G2724V)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GLikely pathogenic
Select item 38164	NM_000059.4(BRCA2):c.8488-1G>A	BRCA2	Single nucleotide variant (splice acceptor variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52605	NM_000059.4(BRCA2):c.8489G>A (p.Trp2830Ter)	BRCA2 (W2830*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38167	NM_000059.4(BRCA2):c.8548_8551del (p.Glu2850fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38179	NM_000059.4(BRCA2):c.8695C>T (p.Gln2899Ter)	BRCA2 (Q2899*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38201	NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys)	BRCA2 (E3002K)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +5 more	GPathogenic/Likely pathogenic
Select item 38207	NM_000059.4(BRCA2):c.9076C>T (p.Gln3026Ter)	BRCA2 (Q3026*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38250	NM_000059.4(BRCA2):c.9581C>A (p.Pro3194Gln)	BRCA2 (P3194Q)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +4 more	GConflicting classifications of pathogenicity
Select item 38260	NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs)	BRCA2	Deletion (frameshift variant)	BRCA2-related cancer predisposition	GLikely pathogenic FDA Recognized database
Select item 2682201	NC_000013.10:g.(32954283_32968825)_(32969071_32971034)del	BRCA2	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 2573507	NC_000013.10:g.(32918791_32920963)_(32921034_32928997)del	BRCA2	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 2498099	NM_001321075.3(DLG4):c.1756C>T (p.Arg586Trp)	DLG4 (R526W +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder 62	GUncertain significance
Select item 3236621	NM_001321075.3(DLG4):c.1420C>T (p.Arg474Trp)	DLG4 (R414W +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder 62	GUncertain significance
Select item 813881	NM_001321075.3(DLG4):c.925C>T (p.Arg309Ter)	DLG4, LOC126862479 (R352* +5 more)	Single nucleotide variant (nonsense +1 more)	Intellectual developmental disorder 62 +2 more	GPathogenic/Likely pathogenic
Select item 1329878	NM_001321075.3(DLG4):c.193G>T (p.Glu65Ter)	DLG4 (E105* +5 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +1 more	GPathogenic
Select item 12379	NM_000546.6(TP53):c.1010G>A (p.Arg337His)	TP53 (R337H +3 more)	Single nucleotide variant (missense variant +1 more)	Squamous cell carcinoma of the head and neck +17 more	GPathogenic/Likely pathogenic
Select item 132708	NM_000546.6(TP53):c.108G>A (p.Pro36=)	TP53	Single nucleotide variant (synonymous variant +1 more)	Li-Fraumeni syndrome 1 +5 more	GBenign
Select item 55280	NM_007294.4(BRCA1):c.4754_4755del (p.Pro1585fs)	BRCA1 (P1585fs +3 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55243	NM_007294.4(BRCA1):c.4625_4626del (p.Ser1542fs)	BRCA1 (S1495fs +3 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 37598	NM_007294.4(BRCA1):c.4484G>T (p.Arg1495Met)	BRCA1 (R1495M +75 more)	Single nucleotide variant (missense variant +1 more)	not specified +6 more	GPathogenic
Select item 17675	NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter)	BRCA1 (R1443* +58 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55131	NM_007294.4(BRCA1):c.4185G>A (p.Gln1395=)	BRCA1	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 37569	NM_007294.4(BRCA1):c.4117G>T (p.Glu1373Ter)	BRCA1 (E1373* +48 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55049	NM_007294.4(BRCA1):c.3916_3917del (p.Leu1306fs)	BRCA1, LOC126862571 (L1306fs +21 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 37545	NM_007294.4(BRCA1):c.3764dup (p.Asn1255fs)	BRCA1, LOC126862571 (N1208fs +21 more)	Duplication (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54913	NM_007294.4(BRCA1):c.3544C>T (p.Gln1182Ter)	BRCA1, LOC126862571 (Q1182* +21 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54868	NM_007294.4(BRCA1):c.3403C>T (p.Gln1135Ter)	BRCA1, LOC126862571 (Q1135* +21 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 91604	NM_007294.4(BRCA1):c.3041T>C (p.Met1014Thr)	BRCA1 (M1014T +20 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 54578	NM_007294.4(BRCA1):c.2477_2478del (p.Thr826fs)	BRCA1 (T826fs +20 more)	Microsatellite (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54552	NM_007294.4(BRCA1):c.2389_2390del (p.Glu797fs)	BRCA1 (E750fs +20 more)	Deletion (intron variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 125548	NM_007294.4(BRCA1):c.2217dup (p.Val740fs)	BRCA1 (V740fs +20 more)	Duplication (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54443	NM_007294.4(BRCA1):c.2037delinsCC (p.Lys679fs)	BRCA1 (K632fs +20 more)	Indel (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54398	NM_007294.4(BRCA1):c.1912del (p.Glu638fs)	BRCA1 (E638fs +20 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 37417	NM_007294.4(BRCA1):c.1504_1508del (p.Leu502fs)	BRCA1 (L455fs +20 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54226	NM_007294.4(BRCA1):c.1380dup (p.Phe461fs)	BRCA1 (F414fs +20 more)	Duplication (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55738	NM_007294.4(BRCA1):c.850C>T (p.Gln284Ter)	BRCA1 (Q284* +19 more)	Single nucleotide variant (nonsense +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55705	NM_007294.4(BRCA1):c.791_794del (p.Ser264fs)	BRCA1 (S217fs +19 more)	Deletion (frameshift variant +3 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 37608	NM_007294.4(BRCA1):c.470_471del (p.Leu156_Ser157insTer)	BRCA1	Microsatellite (frameshift variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55196	NM_007294.4(BRCA1):c.441+2T>A	BRCA1	Single nucleotide variant (splice donor variant +1 more)	Breast neoplasm +4 more	GPathogenic/Likely pathogenic
Select item 54750	NM_007294.4(BRCA1):c.302-1G>A	BRCA1	Single nucleotide variant (splice acceptor variant +1 more)	Hereditary breast ovarian cancer syndrome +2 more	GPathogenic/Likely pathogenic
Select item 54394	NM_007294.4(BRCA1):c.190T>C (p.Cys64Arg)	BRCA1 (C64R +2 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +4 more	GPathogenic
Select item 55656	NM_007294.4(BRCA1):c.65T>C (p.Leu22Ser)	BRCA1 (L22S)	Single nucleotide variant (missense variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54432	NM_007294.4(BRCA1):c.1A>G (p.Met1Val)	BRCA1 (M1V)	Single nucleotide variant (missense variant +3 more)	Breast neoplasm +4 more	GPathogenic/Likely pathogenic
Select item 2637636	NC_000017.10:g.(41215969_41219624)_(41226539_41228504)del	BRCA1	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 997866	NC_000017.10:g.(41251898_41256138)_(41258551_41267742)del	BRCA1	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic

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Items: 71