C1836860[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 324349	NM_032043.3(BRIP1):c.3020C>A (p.Ser1007Tyr)	BRIP1 (S1007Y)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +3 more	GUncertain significance
Select item 187416	NM_032043.3(BRIP1):c.2992_2995del (p.Lys998fs)	BRIP1 (K998fs)	Deletion (frameshift variant)	Neoplasm of ovary +5 more	GConflicting classifications of pathogenicity
Select item 234281	NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs)	BRIP1 (T997fs)	Microsatellite (frameshift variant)	Familial cancer of breast +5 more	GPathogenic/Likely pathogenic
Select item 461044	NM_032043.3(BRIP1):c.2947del (p.Ile983fs)	BRIP1 (I983fs)	Deletion (frameshift variant)	Familial cancer of breast +3 more	GPathogenic/Likely pathogenic
Select item 128180	NM_032043.3(BRIP1):c.2830C>G (p.Gln944Glu)	BRIP1 (Q944E)	Single nucleotide variant (missense variant)	Neoplasm of ovary +8 more	GConflicting classifications of pathogenicity
Select item 133757	NM_032043.3(BRIP1):c.2804T>G (p.Val935Gly)	BRIP1 (V935G)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +6 more	GConflicting classifications of pathogenicity
Select item 324351	NM_032043.3(BRIP1):c.2741T>C (p.Leu914Ser)	BRIP1 (L914S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +3 more	GUncertain significance
Select item 1323982	NM_032043.3(BRIP1):c.2714del (p.Asn905fs)	BRIP1 (N905fs)	Deletion (frameshift variant)	Familial cancer of breast +1 more	GPathogenic/Likely pathogenic
Select item 224527	NM_032043.3(BRIP1):c.2576-2A>G	BRIP1	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely pathogenic
Select item 4738	NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)	BRIP1 (R798*)	Single nucleotide variant (nonsense)	not provided +9 more	GPathogenic/Likely pathogenic
Select item 182372	NM_032043.3(BRIP1):c.2255_2256del (p.Lys752fs)	BRIP1 (K752fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic
Select item 481638	NM_032043.3(BRIP1):c.2251_2254del (p.Glu751fs)	BRIP1 (E751fs)	Microsatellite (frameshift variant)	Fanconi anemia complementation group J +2 more	GPathogenic
Select item 220629	NM_032043.3(BRIP1):c.2114_2118del (p.Lys705fs)	BRIP1 (K705fs)	Deletion (frameshift variant)	Familial cancer of breast +4 more	GPathogenic/Likely pathogenic
Select item 186992	NM_032043.3(BRIP1):c.2108delinsTCC (p.Lys703fs)	BRIP1 (K703fs)	Indel (frameshift variant)	Fanconi anemia complementation group J +3 more	GPathogenic
Select item 128167	NM_032043.3(BRIP1):c.2087C>T (p.Pro696Leu)	BRIP1 (P696L)	Single nucleotide variant (missense variant)	Familial cancer of breast +6 more	GUncertain significance
Select item 187476	NM_032043.3(BRIP1):c.2010dup (p.Glu671Ter)	BRIP1 (E671*)	Duplication (nonsense)	BRIP1-related disorder +5 more	GPathogenic
Select item 485455	NM_032043.3(BRIP1):c.1941G>A (p.Trp647Ter)	BRIP1 (W647*)	Single nucleotide variant (nonsense)	Familial cancer of breast +4 more	GPathogenic
Select item 241634	NM_032043.3(BRIP1):c.1936-2A>G	BRIP1	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 140852	NM_032043.3(BRIP1):c.1871C>A (p.Ser624Ter)	BRIP1 (S624*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group J +7 more	GPathogenic
Select item 141753	NM_032043.3(BRIP1):c.1853_1854insG (p.Pro619fs)	BRIP1 (P619fs)	Insertion (frameshift variant)	Neoplasm of ovary +4 more	GPathogenic/Likely pathogenic
Select item 461084	NM_032043.3(BRIP1):c.1825A>G (p.Thr609Ala)	BRIP1 (T609A)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GUncertain significance
Select item 229916	NM_032043.3(BRIP1):c.1676C>G (p.Thr559Arg)	BRIP1 (T559R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +2 more	GUncertain significance
Select item 136144	NM_032043.3(BRIP1):c.1629-3T>C	BRIP1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 461078	NM_032043.3(BRIP1):c.1628+5G>A	BRIP1	Single nucleotide variant (intron variant)	Familial cancer of breast +3 more	GConflicting classifications of pathogenicity
Select item 128156	NM_032043.3(BRIP1):c.1372G>T (p.Glu458Ter)	BRIP1 (E458*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 2438764	NM_032043.3(BRIP1):c.1341-1G>C	BRIP1	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group J +1 more	GLikely pathogenic
Select item 481658	NM_032043.3(BRIP1):c.1340+1G>A	BRIP1	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 142915	NM_032043.3(BRIP1):c.1195G>A (p.Glu399Lys)	BRIP1 (E399K)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +4 more	GUncertain significance
Select item 128151	NM_032043.3(BRIP1):c.1126_1127del (p.Gln376fs)	BRIP1 (Q376fs)	Microsatellite (frameshift variant)	Fanconi anemia complementation group J +5 more	GPathogenic/Likely pathogenic
Select item 491400	NM_032043.3(BRIP1):c.1126C>T (p.Gln376Ter)	BRIP1 (Q376*)	Single nucleotide variant (nonsense)	Familial cancer of breast +2 more	GPathogenic/Likely pathogenic
Select item 30535	NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro)	BRIP1 (A349P)	Single nucleotide variant (missense variant)	Familial cancer of breast +6 more	GPathogenic/Likely pathogenic
Select item 141319	NM_032043.3(BRIP1):c.918+1G>A	BRIP1	Single nucleotide variant (splice donor variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 185848	NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys)	BRIP1 (R251C)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 186643	NM_032043.3(BRIP1):c.689C>T (p.Ser230Leu)	BRIP1 (S230L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 229895	NM_032043.3(BRIP1):c.626A>G (p.Lys209Arg)	BRIP1 (K209R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +4 more	GUncertain significance
Select item 219850	NM_032043.3(BRIP1):c.508-1G>C	BRIP1	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group J +4 more	GPathogenic/Likely pathogenic
Select item 186411	NM_032043.3(BRIP1):c.484C>T (p.Arg162Ter)	BRIP1 (R162*)	Single nucleotide variant (nonsense)	BRIP1-related disorder +5 more	GPathogenic/Likely pathogenic
Select item 140984	NM_032043.3(BRIP1):c.394dup (p.Thr132fs)	BRIP1 (T132fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 187396	NM_032043.3(BRIP1):c.206-2A>G	BRIP1	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1325376	NM_032043.3(BRIP1):c.205+2T>C	BRIP1	Single nucleotide variant (splice donor variant)	Familial cancer of breast +1 more	GPathogenic/Likely pathogenic
Select item 4736	NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala)	BRIP1 (P47A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity

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Items: 41