C3661900[trait identifier] AND "Institute. of Biochemistry and Experim - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 132820	NM_007194.4(CHEK2):c.*7T>C	CHEK2	Single nucleotide variant (3 prime UTR variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 126910	NM_007194.4(CHEK2):c.1421G>A (p.Arg474His)	CHEK2 (R474H +4 more)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +4 more	GConflicting classifications of pathogenicity
Select item 126909	NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp)	CHEK2 (N446D +4 more)	Single nucleotide variant (missense variant)	CHEK2-Related Cancer Susceptibility +8 more	GConflicting classifications of pathogenicity
Select item 126911	NM_007194.4(CHEK2):c.1259+1G>C	CHEK2	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 126908	NM_007194.4(CHEK2):c.1201A>G (p.Thr401Ala)	CHEK2 (T401A +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 126907	NM_007194.4(CHEK2):c.1067C>T (p.Ser356Leu)	CHEK2 (S356L +3 more)	Single nucleotide variant (missense variant +1 more)	CHEK2-related condition +5 more	GUncertain significance
Select item 5600	NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys)	CHEK2 (E239K +3 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate +9 more	GUncertain significance
Select item 126900	NM_007194.4(CHEK2):c.684-4C>G	CHEK2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 126899	NM_007194.4(CHEK2):c.684-74G>C	CHEK2	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 5598	NM_007194.4(CHEK2):c.542G>A (p.Arg181His)	CHEK2 (R181H +1 more)	Single nucleotide variant (missense variant +2 more)	CHEK2-Related Cancer Susceptibility +9 more	GConflicting classifications of pathogenicity
Select item 133278	NM_007194.4(CHEK2):c.444+24C>T	CHEK2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 126914	NM_007194.4(CHEK2):c.444+1G>T	CHEK2	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 128070	NM_007194.4(CHEK2):c.320-5T>A	CHEK2	Single nucleotide variant (intron variant)	CHEK2-related condition +7 more	GConflicting classifications of pathogenicity
Select item 126898	NM_007194.4(CHEK2):c.122C>T (p.Ser41Phe)	CHEK2 (S41F)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance