C0345893[trait identifier] AND "KCCC/NGS Laboratory, Kuwait Cancer Con - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 301350	NM_004329.3(BMPR1A):c.-25A>G	BMPR1A	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 41782	NM_004329.3(BMPR1A):c.4C>A (p.Pro2Thr)	BMPR1A (P2T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign
Select item 223551	NM_004329.3(BMPR1A):c.67+25T>C	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome +1 more	GLikely benign
Select item 491011	NM_004329.3(BMPR1A):c.68-12A>G	BMPR1A	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 439438	NM_004329.3(BMPR1A):c.431-26T>A	BMPR1A	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 183708	NM_004329.3(BMPR1A):c.435G>A (p.Pro145=)	BMPR1A	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign
Select item 259287	NM_004329.3(BMPR1A):c.675+12G>A	BMPR1A	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 136052	NM_004329.3(BMPR1A):c.676-5T>C	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome +4 more	GBenign/Likely benign
Select item 136524	NM_004329.3(BMPR1A):c.777G>A (p.Ala259=)	BMPR1A	Single nucleotide variant (synonymous variant)	Juvenile polyposis syndrome +4 more	GBenign/Likely benign
Select item 132691	NM_004329.3(BMPR1A):c.1140C>T (p.Asp380=)	BMPR1A	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 136525	NM_004329.3(BMPR1A):c.1299C>T (p.Phe433=)	BMPR1A	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 301352	NM_004329.3(BMPR1A):c.1342+6A>G	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome +4 more	GBenign
Select item 259286	NM_004329.3(BMPR1A):c.1343-11T>C	BMPR1A	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 136527	NM_004329.3(BMPR1A):c.1560G>A (p.Thr520=)	BMPR1A	Single nucleotide variant (synonymous variant)	Juvenile polyposis syndrome +3 more	GBenign/Likely benign
Select item 132767	NM_005359.6(SMAD4):c.228A>G (p.Arg76=)	SMAD4	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 259750	NM_005359.6(SMAD4):c.455-43A>T	SMAD4	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 2573221	NM_005359.6(SMAD4):c.904+35T>A	SMAD4	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GBenign
Select item 24817	NM_005359.6(SMAD4):c.905-52A>G	SMAD4	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 132693	NM_005359.6(SMAD4):c.1086T>C (p.Phe362=)	SMAD4	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +7 more	GBenign/Likely benign
Select item 413437	NM_005359.6(SMAD4):c.1632G>A (p.Pro544=)	SMAD4	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity

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Items: 20