"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 507523	NM_004329.3(BMPR1A):c.230+20C>G	BMPR1A	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 142484	NM_004329.3(BMPR1A):c.355C>T (p.Arg119Cys)	BMPR1A (R119C)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +2 more	GLikely pathogenic
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)	not specified +4 more	GBenign
Select item 136524	NM_004329.3(BMPR1A):c.777G>A (p.Ala259=)	BMPR1A	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 411617	NM_004329.3(BMPR1A):c.785T>C (p.Val262Ala)	BMPR1A (V262A)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +2 more	GUncertain significance
Select item 8231	NM_004329.3(BMPR1A):c.812G>A (p.Trp271Ter)	BMPR1A (W271*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 184634	NM_004329.3(BMPR1A):c.961C>T (p.Leu321=)	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 41779	NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys)	BMPR1A (E415K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 136525	NM_004329.3(BMPR1A):c.1299C>T (p.Phe433=)	BMPR1A	Single nucleotide variant (synonymous variant)	Juvenile polyposis syndrome +3 more	GBenign/Likely benign
Select item 259286	NM_004329.3(BMPR1A):c.1343-11T>C	BMPR1A	Single nucleotide variant (intron variant)	Generalized juvenile polyposis/juvenile polyposis coli +4 more	GBenign
Select item 489686	NM_004329.3(BMPR1A):c.1411C>T (p.Arg471Cys)	BMPR1A (R471C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 136526	NM_004329.3(BMPR1A):c.1419T>G (p.Val473=)	BMPR1A	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity