ClinVar for PubMed (Select 30152102) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 184148	NM_003000.3(SDHB):c.158G>A (p.Gly53Glu)	SDHB (G53E)	Single nucleotide variant (missense variant)	SDHB-related condition +8 more	GBenign/Likely benign
Select item 127514	NM_000057.4(BLM):c.696C>A (p.Ser232Arg)	BLM (S232R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 89496	NM_000179.3(MSH6):c.3984_3987dup (p.Leu1330fs)	MSH6 (L1200fs +2 more)	Duplication (frameshift variant)	Lynch syndrome	GPathogenic
Select item 17677	NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)	BRCA1 (Q1756fs +3 more)	Duplication (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 17662	NM_007294.4(BRCA1):c.68_69del (p.Glu23fs)	BRCA1 (E23fs)	Microsatellite (frameshift variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic FDA Recognized database
Select item 9325	NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)	BRCA2 (S1982fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic FDA Recognized database
Select item 5603	NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)	CHEK2 (S428F +4 more)	Single nucleotide variant (missense variant)	Breast neoplasm +12 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance/Established risk allele
Select item 1764	NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro)	MSH2 (A636P +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GPathogenic
Select item 822	NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)	APC (I1307K +12 more)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity; association; risk factor