ClinVar for PubMed (Select 23433720) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2136904	NM_004329.3(BMPR1A):c.245G>A (p.Cys82Tyr)	BMPR1A (C82Y +1 more)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome	GUncertain significance
Select item 1798615	NM_004329.3(BMPR1A):c.299G>A (p.Cys100Tyr)	BMPR1A (C100Y +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 1067205	NC_000010.10:g.(?_88671987)_(88683476_?)del	BMPR1A	Deletion	Juvenile polyposis syndrome	GLikely pathogenic
Select item 843741	NM_004329.3(BMPR1A):c.3G>T (p.Met1Ile)	BMPR1A (M1I)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GPathogenic
Select item 832708	NC_000010.11:g.(?_86912230)_(86919479_?)del	BMPR1A	Deletion	Juvenile polyposis syndrome +1 more	GLikely pathogenic
Select item 824482	NM_004329.3(BMPR1A):c.3G>A (p.Met1Ile)	BMPR1A (M1I)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 653050	NM_004329.3(BMPR1A):c.-1_2del (p.Met1del)	BMPR1A (M1del)	Deletion (inframe_deletion +1 more)	Juvenile polyposis syndrome	GLikely pathogenic
Select item 486819	NM_004329.3(BMPR1A):c.245G>T (p.Cys82Phe)	BMPR1A (C82F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 486795	NM_004329.3(BMPR1A):c.490A>G (p.Ile164Val)	BMPR1A (I164V)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +1 more	GUncertain significance
Select item 482875	NM_004329.3(BMPR1A):c.761G>C (p.Arg254Pro)	BMPR1A (R254P)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +1 more	GUncertain significance
Select item 429102	NM_004329.3(BMPR1A):c.1A>C (p.Met1Leu)	BMPR1A (M1L)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome +1 more	GPathogenic/Likely pathogenic
Select item 418873	NM_004329.3(BMPR1A):c.233C>T (p.Thr78Ile)	BMPR1A (T78I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 411647	NM_004329.3(BMPR1A):c.761G>A (p.Arg254His)	BMPR1A (R254H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 411633	NM_004329.3(BMPR1A):c.185A>G (p.Tyr62Cys)	BMPR1A (Y62C)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +1 more	GUncertain significance
Select item 371995	NM_004329.3(BMPR1A):c.170C>G (p.Pro57Arg)	BMPR1A (P57R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 186704	NM_004329.3(BMPR1A):c.1A>G (p.Met1Val)	BMPR1A (M1V)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome +1 more	GPathogenic
Select item 142599	NM_004329.3(BMPR1A):c.760C>T (p.Arg254Cys)	BMPR1A (R254C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 133717	NM_004329.3(BMPR1A):c.1327C>T (p.Arg443Cys)	BMPR1A (R443C)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +6 more	GConflicting classifications of pathogenicity
Select item 8233	NM_004329.3(BMPR1A):c.1013C>A (p.Ala338Asp)	BMPR1A (A338D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic