ClinVar (all) for Orgtrack (Select 507935) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1684259	NM_000059.4(BRCA2):c.1849del (p.Ser617fs)	BRCA2 (S617fs)	Deletion (frameshift variant)	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 1684258	NM_007294.4(BRCA1):c.3637G>A (p.Glu1213Lys)	BRCA1, LOC126862571 (E1166K +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1041702	NM_000059.4(BRCA2):c.4616T>C (p.Leu1539Ser)	BRCA2 (L1539S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 995861	NM_000321.3(RB1):c.2035_2038dup (p.Ile680fs)	RB1 (I680fs)	Duplication (frameshift variant)	Retinoblastoma	GPathogenic
Select item 995860	NM_000321.3(RB1):c.1901C>G (p.Ser634Ter)	RB1 (S634*)	Single nucleotide variant (nonsense)	Retinoblastoma	GPathogenic
Select item 995859	NM_000321.3(RB1):c.1498+2T>G	RB1	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 937328	NM_000321.3(RB1):c.1960+1G>T	RB1	Single nucleotide variant (splice donor variant)	Retinoblastoma	GPathogenic
Select item 921259	NM_007294.4(BRCA1):c.441+8C>T	BRCA1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 868851	NM_007294.4(BRCA1):c.4925C>A (p.Ser1642Ter)	BRCA1 (S1642* +77 more)	Single nucleotide variant (nonsense +1 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 868759	NM_007294.4(BRCA1):c.5153-2A>C	BRCA1	Single nucleotide variant (splice acceptor variant)	Familial cancer of breast +1 more	GPathogenic
Select item 867843	NM_007294.4(BRCA1):c.5206G>T (p.Val1736Phe)	BRCA1 (V1757F +79 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 863784	NM_007294.4(BRCA1):c.4367C>T (p.Thr1456Ile)	BRCA1 (T1456I +75 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 827465	NM_000059.4(BRCA2):c.8122A>G (p.Thr2708Ala)	BRCA2 (T2708A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 757315	NM_000059.4(BRCA2):c.7416G>A (p.Lys2472=)	BRCA2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 575702	NM_000546.6(TP53):c.534C>A (p.His178Gln)	TP53 (H46Q +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 531359	NM_007294.4(BRCA1):c.488G>C (p.Arg163Thr)	BRCA1 (R163T +11 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +4 more	GUncertain significance
Select item 491214	NM_000059.4(BRCA2):c.2054A>T (p.Asp685Val)	BRCA2 (D685V)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 434528	NM_000059.4(BRCA2):c.2927C>T (p.Ser976Phe)	BRCA2 (S976F)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +5 more	GBenign/Likely benign
Select item 434527	NM_000059.4(BRCA2):c.2926T>A (p.Ser976Thr)	BRCA2 (S976T)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +5 more	GBenign/Likely benign
Select item 428727	NM_000321.3(RB1):c.380+1G>A	RB1	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 418600	NM_000059.4(BRCA2):c.8940del (p.Glu2981fs)	BRCA2 (E2981fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 415582	NM_007294.4(BRCA1):c.5152+9A>T	BRCA1	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +2 more	GLikely benign
Select item 387894	NM_000059.4(BRCA2):c.3381T>C (p.Phe1127=)	BRCA2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 266928	NM_000059.4(BRCA2):c.6155C>G (p.Ser2052Ter)	BRCA2 (S2052*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 266861	NM_000059.4(BRCA2):c.5216dup (p.Tyr1739Ter)	BRCA2 (Y1739*)	Duplication	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 234463	NM_000059.4(BRCA2):c.6988A>G (p.Ile2330Val)	BRCA2 (I2330V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 220942	NM_000546.6(TP53):c.97-6C>T	TP53	Single nucleotide variant (intron variant)	Li-Fraumeni syndrome 1 +17 more	GBenign/Likely benign
Select item 216660	NM_007294.4(BRCA1):c.301+12A>C	BRCA1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 185665	NM_000059.4(BRCA2):c.5808G>A (p.Met1936Ile)	BRCA2 (M1936I)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 182288	NM_000059.4(BRCA2):c.4977C>T (p.Ser1659=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 142144	NM_000546.6(TP53):c.916C>T (p.Arg306Ter)	TP53 (R174* +3 more)	Single nucleotide variant (nonsense)	Hereditary breast ovarian cancer syndrome +5 more	GPathogenic OOncogenic
Select item 141658	NM_007294.4(BRCA1):c.135-5T>C	BRCA1	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 141104	NM_000059.4(BRCA2):c.9043A>G (p.Lys3015Glu)	BRCA2 (K3015E)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 136554	NM_000059.4(BRCA2):c.1911T>C (p.Gly637=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 136552	NM_007294.4(BRCA1):c.5175A>G (p.Glu1725=)	BRCA1	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 136547	NM_007294.4(BRCA1):c.4113G>A (p.Gly1371=)	BRCA1	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 136537	NM_007294.4(BRCA1):c.21C>T (p.Arg7=)	BRCA1	Single nucleotide variant (5 prime UTR variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 132781	NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 132780	NM_000059.4(BRCA2):c.6513G>C (p.Val2171=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 132779	NM_000059.4(BRCA2):c.4563A>G (p.Leu1521=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
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 126832	NM_000321.3(RB1):c.1215+1G>A	RB1	Single nucleotide variant (splice donor variant)	Malignant tumor of urinary bladder +4 more	GPathogenic
Select item 126820	NM_000321.3(RB1):c.763C>T (p.Arg255Ter)	RB1 (R255*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 126133	NM_000059.4(BRCA2):c.7242A>G (p.Ser2414=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 126022	NM_000059.4(BRCA2):c.3807T>C (p.Val1269=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 126018	NM_000059.3(BRCA2):c.156_157insAlu	BRCA2	Insertion	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 126010	NM_000059.4(BRCA2):c.3396A>G (p.Lys1132=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 125979	NM_000059.4(BRCA2):c.2229T>C (p.His743=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 125976	NM_000059.4(BRCA2):c.-11C>T	BRCA2	Single nucleotide variant (5 prime UTR variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 125943	NM_000059.4(BRCA2):c.1365A>G (p.Ser455=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 125843	NM_007294.4(BRCA1):c.5406+8T>C	BRCA1	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 125703	NM_007294.4(BRCA1):c.4308T>C (p.Ser1436=)	BRCA1	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 125666	NM_007294.4(BRCA1):c.301+8T>C	BRCA1	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 125554	NM_007294.4(BRCA1):c.2311T>C (p.Leu771=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 125536	NM_007294.4(BRCA1):c.2082C>T (p.Ser694=)	BRCA1	Single nucleotide variant (intron variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 96852	NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr)	BRCA2 (I2490T)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 96805	NM_000059.4(BRCA2):c.4183G>T (p.Ala1395Ser)	BRCA2 (A1395S)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 93325	NM_000546.6(TP53):c.993+12T>C	TP53	Single nucleotide variant (intron variant)	Li-Fraumeni syndrome +6 more	GBenign/Likely benign
Select item 89064	NM_007294.4(BRCA1):c.4410A>T (p.Glu1470Asp)	BRCA1 (E1470D +75 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 55705	NM_007294.4(BRCA1):c.791_794del (p.Ser264fs)	BRCA1 (S217fs +19 more)	Deletion (frameshift variant +3 more)	Breast-ovarian cancer, familial, susceptibility to, 1 +3 more	GPathogenic
Select item 55642	NM_007294.4(BRCA1):c.591C>T (p.Cys197=)	BRCA1	Single nucleotide variant (intron variant +1 more)	BRCA1-related cancer predisposition	GBenign FDA Recognized database
Select item 55635	NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr)	BRCA1 (S186Y +11 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 55589	NM_007294.4(BRCA1):c.5468-10C>A	BRCA1	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 55568	NM_007294.4(BRCA1):c.5411T>A (p.Val1804Asp)	BRCA1 (V1804D +90 more)	Single nucleotide variant (missense variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 55406	NM_007294.4(BRCA1):c.5117G>C (p.Gly1706Ala)	BRCA1 (G1706A +78 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 55333	NM_007294.4(BRCA1):c.4964C>T (p.Ser1655Phe)	BRCA1 (S1655F +77 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 55301	NM_007294.4(BRCA1):c.4840C>T (p.Pro1614Ser)	BRCA1 (P1614S +77 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 55259	NM_007294.4(BRCA1):c.4682C>T (p.Thr1561Ile)	BRCA1 (T1561I +77 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 55235	NM_007294.4(BRCA1):c.4600G>A (p.Val1534Met)	BRCA1 (V1534M +75 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 55196	NM_007294.4(BRCA1):c.441+2T>A	BRCA1	Single nucleotide variant (splice donor variant +1 more)	Breast and/or ovarian cancer +4 more	GPathogenic/Likely pathogenic
Select item 54986	NM_007294.4(BRCA1):c.3746C>G (p.Thr1249Ser)	BRCA1, LOC126862571 (T1249S +21 more)	Single nucleotide variant (intron variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 54970	NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys)	BRCA1, LOC126862571 (N1236K +21 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 54932	NM_007294.4(BRCA1):c.3601G>A (p.Gly1201Ser)	BRCA1, LOC126862571 (G1201S +21 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 54931	NM_007294.4(BRCA1):c.3600G>T (p.Gln1200His)	BRCA1, LOC126862571 (Q1200H +21 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 54424	NM_007294.4(BRCA1):c.1971A>G (p.Gln657=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 54378	NM_007294.4(BRCA1):c.1881C>G (p.Val627=)	BRCA1	Single nucleotide variant (intron variant +1 more)	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 54146	NM_007294.4(BRCA1):c.114G>A (p.Lys38=)	BRCA1	Single nucleotide variant (5 prime UTR variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 52897	NM_000059.4(BRCA2):c.9770A>G (p.Lys3257Arg)	BRCA2 (K3257R)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +4 more	GConflicting classifications of pathogenicity
Select item 52826	NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter)	BRCA2 (R3128*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52655	NM_000059.4(BRCA2):c.8668C>A (p.Leu2890Ile)	BRCA2 (L2890I)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +5 more	GConflicting classifications of pathogenicity
Select item 52606	NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro)	BRCA2 (S2835P)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 52594	NM_000059.4(BRCA2):c.8460A>C (p.Val2820=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 52536	NM_000059.4(BRCA2):c.8247_8248del (p.Lys2750fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52412	NM_000059.4(BRCA2):c.7805+6C>G	BRCA2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 52392	NM_000059.4(BRCA2):c.7712A>G (p.Glu2571Gly)	BRCA2 (E2571G)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +5 more	GConflicting classifications of pathogenicity
Select item 52317	NM_000059.4(BRCA2):c.7397= (p.Val2466=)	BRCA2 (A2466V)	Single nucleotide variant (no sequence alteration)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 52249	NM_000059.4(BRCA2):c.7017G>C (p.Lys2339Asn)	BRCA2 (K2339N)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 52191	NM_000059.4(BRCA2):c.6803G>A (p.Arg2268Lys)	BRCA2 (R2268K)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +5 more	GConflicting classifications of pathogenicity
Select item 52087	NM_000059.4(BRCA2):c.6412G>T (p.Val2138Phe)	BRCA2 (V2138F)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +7 more	GConflicting classifications of pathogenicity
Select item 51982	NM_000059.4(BRCA2):c.5986G>A (p.Ala1996Thr)	BRCA2 (A1996T)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +5 more	GConflicting classifications of pathogenicity
Select item 51912	NM_000059.4(BRCA2):c.5704G>A	BRCA2	Single nucleotide variant	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51896	NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys)	BRCA2 (N1880K)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51892	NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs)	BRCA2 (K1872fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51891	NM_000059.4(BRCA2):c.5612G>A (p.Ser1871Asn)	BRCA2 (S1871N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
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 51695	NM_000059.4(BRCA2):c.4681C>A (p.His1561Asn)	BRCA2 (H1561N)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +7 more	GConflicting classifications of pathogenicity
Select item 51592	NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu)	BRCA2 (I1364L)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51589	NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51435	NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51428	NM_000059.4(BRCA2):c.322A>C (p.Asn108His)	BRCA2 (N108H)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign

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