C1883486[trait identifier] AND "CZECANCA consortium"[submitter] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 90743	NM_000251.3(MSH2):c.1676del (p.Ser558_Leu559insTer)	MSH2	Deletion (nonsense)	Lynch syndrome	GPathogenic
Select item 90761	NM_000251.3(MSH2):c.1720del (p.Gln574fs)	MSH2 (Q574fs +1 more)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 2430176	NM_000251.2(MSH2):c.2459-2_2472del	MSH2	Deletion (genic downstream transcript variant)	Uterine corpus cancer	GLikely pathogenic
Select item 410494	NM_000179.3(MSH6):c.741dup (p.Arg248fs)	MSH6 (R118fs +1 more)	Duplication (frameshift variant +1 more)	Lynch syndrome 5 +4 more	GPathogenic/Likely pathogenic
Select item 428433	NM_000179.3(MSH6):c.2759del (p.Lys920fs)	MSH6 (K790fs +2 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 185713	NM_000314.8(PTEN):c.170T>G (p.Leu57Trp)	PTEN (L57W +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GLikely pathogenic FDA Recognized database
Select item 142700	NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)	ATM, C11orf65 (V2716A)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 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 9322	NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)	BRCA2 (A938fs)	Deletion	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38125	NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys)	BRCA2 (W2626C)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 632930	NM_024675.4(PALB2):c.761C>G (p.Ser254Ter)	PALB2 (S254*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 55608	NM_007294.4(BRCA1):c.5510G>A (p.Trp1837Ter)	BRCA1 (W1837* +80 more)	Single nucleotide variant (nonsense +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 128201	NM_058216.3(RAD51C):c.1026+5_1026+7del	RAD51C	Deletion (intron variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 128166	NM_032043.3(BRIP1):c.2038_2039dup (p.Leu680fs)	BRIP1 (L680fs)	Duplication (frameshift variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 232048	NM_007194.4(CHEK2):c.894T>G (p.Tyr298Ter)	CHEK2 (Y298* +3 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic