"Fulgent Genetics, Fulgent Genetics"[submitter] AND "BMPR1A"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 411643	NM_004329.3(BMPR1A):c.94G>C (p.Gly32Arg)	BMPR1A (G32R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 823741	NM_004329.3(BMPR1A):c.340C>G (p.Pro114Ala)	BMPR1A (P114A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 141022	NM_004329.3(BMPR1A):c.478A>G (p.Met160Val)	BMPR1A (M160V)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +4 more	GConflicting classifications of pathogenicity
Select item 489698	NM_004329.3(BMPR1A):c.571C>T (p.Arg191Cys)	BMPR1A (R191C)	Single nucleotide variant (missense variant)	Polyposis syndrome, hereditary mixed, 2 +3 more	GUncertain significance
Select item 127902	NM_004329.3(BMPR1A):c.676G>T (p.Val226Phe)	BMPR1A (V226F)	Single nucleotide variant (missense variant)	Polyposis syndrome, hereditary mixed, 2 +4 more	GConflicting classifications of pathogenicity
Select item 142599	NM_004329.3(BMPR1A):c.760C>T (p.Arg254Cys)	BMPR1A (R254C)	Single nucleotide variant (missense variant)	Generalized juvenile polyposis/juvenile polyposis coli +6 more	GConflicting classifications of pathogenicity
Select item 127900	NM_004329.3(BMPR1A):c.1300G>A (p.Gly434Ser)	BMPR1A (G434S)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +3 more	GConflicting classifications of pathogenicity
Select item 185192	NM_004329.3(BMPR1A):c.1379T>C (p.Met460Thr)	BMPR1A (M460T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 41780	NM_004329.3(BMPR1A):c.1433G>A (p.Arg478His)	BMPR1A (R478H)	Single nucleotide variant (missense variant)	Generalized juvenile polyposis/juvenile polyposis coli +5 more	GConflicting classifications of pathogenicity
Select item 301360	NM_004329.3(BMPR1A):c.*487A>G	BMPR1A	Single nucleotide variant (3 prime UTR variant)	Polyposis syndrome, hereditary mixed, 2 +2 more	GUncertain significance