C1708349[trait identifier] AND "Pathway Genomics"[submitter] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 156496	NM_004360.5(CDH1):c.187C>T (p.Arg63Ter)	CDH1 (R63*)	Single nucleotide variant (nonsense +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GPathogenicFDA Recognized database
Select item 156495	NM_004360.5(CDH1):c.470T>C (p.Val157Ala)	CDH1 (V157A)	Single nucleotide variant (missense variant +1 more)	Hereditary diffuse gastric adenocarcinoma	GUncertain significance
Select item 136055	NM_004360.5(CDH1):c.1003C>T (p.Arg335Ter)	CDH1 (R335*)	Single nucleotide variant (nonsense +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GPathogenicFDA Recognized database
Select item 156499	NM_004360.5(CDH1):c.1137G>A (p.Thr379=)	CDH1	Single nucleotide variant (synonymous variant +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GPathogenicFDA Recognized database
Select item 156498	NM_004360.5(CDH1):c.1454T>G (p.Ile485Ser)	CDH1 (I485S +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary diffuse gastric adenocarcinoma	GUncertain significance
Select item 41783	NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr)	CDH1 (A592T +2 more)	Single nucleotide variant (missense variant +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GBenignFDA Recognized database
Select item 12232	NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr)	CDH1 (A617T +2 more)	Single nucleotide variant (missense variant +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GBenignFDA Recognized database
Select item 156497	NM_004360.5(CDH1):c.2398del (p.Arg800fs)	CDH1 (R145fs +3 more)	Deletion (frameshift variant)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GPathogenicFDA Recognized database