C0677776[trait identifier] AND "Rady Children's Institute for Genomic - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 186330	NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter)	ATM, C11orf65 (R2993*)	Single nucleotide variant (nonsense +1 more)	Breast cancer, susceptibility to +5 more	GPathogenic/Likely pathogenic
Select item 9342	NM_000059.4(BRCA2):c.658_659del (p.Val220fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 125945	NM_000059.4(BRCA2):c.1408dup (p.Glu470fs)	BRCA2 (E470fs)	Duplication (frameshift variant)	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 51516	NM_000059.4(BRCA2):c.3751dup (p.Thr1251fs)	BRCA2 (T1251fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37862	NM_000059.4(BRCA2):c.3865_3868del (p.Lys1289fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51747	NM_000059.4(BRCA2):c.4947_4948del (p.Pro1651fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51750	NM_000059.4(BRCA2):c.4965C>A (p.Tyr1655Ter)	BRCA2 (Y1655*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51822	NM_000059.4(BRCA2):c.5217_5223del (p.Thr1738_Tyr1739insTer)	BRCA2	Deletion (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37963	NM_000059.4(BRCA2):c.5410_5411del (p.Val1804fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37975	NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs)	BRCA2 (I1859fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 9325	NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)	BRCA2 (S1982fs)	Deletion (frameshift variant)	BRCA2-related cancer predisposition	GPathogenicFDA Recognized database
Select item 126160	NM_000059.4(BRCA2):c.7816_7819dup (p.Thr2607fs)	BRCA2 (T2607fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 562471	NM_000059.4(BRCA2):c.9593_9594del (p.Cys3198fs)	BRCA2 (C3198fs)	Deletion (frameshift variant)	BRCA2-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 231143	NM_024675.4(PALB2):c.2411_2412del (p.Ser804fs)	PALB2 (S804fs)	Microsatellite (frameshift variant)	Familial cancer of breast +5 more	GPathogenic/Likely pathogenic
Select item 136132	NM_024675.4(PALB2):c.2167_2168del (p.Met723fs)	PALB2	Deletion (frameshift variant)	not provided +8 more	GPathogenic
Select item 55221	NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter)	BRCA1 (W1508* +75 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	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 17673	NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs)	BRCA1, LOC126862571 (S1253fs +21 more)	Microsatellite (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 37483	NM_007294.4(BRCA1):c.2706_2707dup (p.Cys903fs)	BRCA1 (C856fs +20 more)	Duplication (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 37469	NM_007294.4(BRCA1):c.2433del (p.Lys812fs)	BRCA1 (K812fs +20 more)	Deletion (intron variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 186881	NM_007294.4(BRCA1):c.2214dup (p.Lys739Ter)	BRCA1 (K739* +20 more)	Duplication (intron variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 231732	NM_007294.4(BRCA1):c.1140dup (p.Lys381fs)	BRCA1 (K334fs +20 more)	Duplication (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 182844	NM_058216.3(RAD51C):c.224dup (p.Tyr75Ter)	RAD51C (Y75*)	Duplication (nonsense +1 more)	RAD51C-related disorder +6 more	GPathogenic
Select item 140849	NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter)	RAD51C (R193*)	Single nucleotide variant (nonsense +1 more)	Fanconi anemia complementation group O +6 more	GPathogenic/Likely pathogenic
Select item 241648	NM_032043.3(BRIP1):c.2992_2993del (p.Lys998fs)	BRIP1	Deletion (frameshift variant)	Breast cancer, early-onset +6 more	GPathogenic/Likely pathogenic
Select item 140852	NM_032043.3(BRIP1):c.1871C>A (p.Ser624Ter)	BRIP1 (S624*)	Single nucleotide variant (nonsense)	Familial cancer of breast +7 more	GPathogenic
Select item 128042	NM_007194.4(CHEK2):c.1100del (p.Thr367fs)	CHEK2 (T146fs +4 more)	Deletion (frameshift variant)	CHEK2-related cancer predisposition +17 more	GPathogenic
Select item 141866	NM_007194.4(CHEK2):c.279G>A (p.Trp93Ter)	CHEK2 (W93*)	Single nucleotide variant (nonsense +1 more)	Breast and colorectal cancer, susceptibility to +5 more	GPathogenic/Likely pathogenic

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Items: 29