C2239176[trait identifier] AND "CZECANCA consortium"[submitter] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 42094	NM_000143.4(FH):c.1127A>C (p.Gln376Pro)	FH (Q376P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 220719	NM_005732.4(RAD50):c.1875C>G (p.Tyr625Ter)	RAD50 (Y625*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 1703766	NM_005732.4(RAD50):c.2046del (p.Val683fs)	RAD50 (V683fs)	Deletion (frameshift variant)	Hepatocellular carcinoma	GLikely pathogenic
Select item 1703767	NM_005732.4(RAD50):c.2524+1_2524+9del	RAD50	Deletion (splice donor variant)	Hepatocellular carcinoma	GLikely pathogenic
Select item 1703765	NM_000535.7(PMS2):c.1144+250_2175-1948del	PMS2	Deletion (splice acceptor variant +1 more)	Hepatocellular carcinoma	GLikely pathogenic
Select item 6940	NM_002485.5(NBN):c.657_661del (p.Lys219fs)	NBN (K137fs +1 more)	Deletion (frameshift variant)	Microcephaly, normal intelligence and immunodeficiency +7 more	GPathogenic
Select item 13931	NM_020975.6(RET):c.2304G>C (p.Glu768Asp)	RET (E768D +17 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 12349	NM_000546.6(TP53):c.733G>T (p.Gly245Cys)	TP53 (G245C +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 216077	NM_000546.6(TP53):c.584T>C (p.Ile195Thr)	TP53 (I156T +3 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity