"PreventionGenetics, part of Exact Sciences"[submitter] AND "BMPR1A"[g - ClinVar

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Items: 34

	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 383960	NM_004329.3(BMPR1A):c.27A>G (p.Arg9=)	BMPR1A	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 186157	NM_004329.3(BMPR1A):c.30A>G (p.Leu10=)	BMPR1A	Single nucleotide variant (synonymous variant)	BMPR1A-related disorder +2 more	GLikely benign
Select item 220588	NM_004329.3(BMPR1A):c.33G>A (p.Leu11=)	BMPR1A	Single nucleotide variant (synonymous variant)	Generalized juvenile polyposis/juvenile polyposis coli +4 more	GConflicting classifications of pathogenicity
Select item 231113	NM_004329.3(BMPR1A):c.49A>C (p.Ile17Leu)	BMPR1A (I17L)	Single nucleotide variant (missense variant)	BMPR1A-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 411623	NM_004329.3(BMPR1A):c.98C>G (p.Thr33Ser)	BMPR1A (T33S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 182064	NM_004329.3(BMPR1A):c.101G>C (p.Gly34Ala)	BMPR1A (G34A)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 183708	NM_004329.3(BMPR1A):c.435G>A (p.Pro145=)	BMPR1A	Single nucleotide variant (synonymous variant)	Generalized juvenile polyposis/juvenile polyposis coli +4 more	GBenign
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 183788	NM_004329.3(BMPR1A):c.510C>T (p.Phe170=)	BMPR1A	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 246466	NM_004329.3(BMPR1A):c.562C>T (p.Arg188Cys)	BMPR1A (R188C)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 132739	NM_004329.3(BMPR1A):c.618A>G (p.Leu206=)	BMPR1A	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 259287	NM_004329.3(BMPR1A):c.675+12G>A	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome +4 more	GBenign
Select item 560825	NM_004329.3(BMPR1A):c.675+17T>C	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome +2 more	GLikely benign
Select item 136053	NM_004329.3(BMPR1A):c.676-6A>C	BMPR1A	Single nucleotide variant (intron variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 184370	NM_004329.3(BMPR1A):c.682C>A (p.Arg228=)	BMPR1A	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 1010565	NM_004329.3(BMPR1A):c.705G>C (p.Gln235His)	BMPR1A (Q235H)	Single nucleotide variant (missense variant)	BMPR1A-related disorder +2 more	GUncertain significance
Select item 449255	NM_004329.3(BMPR1A):c.712C>G (p.Arg238Gly)	BMPR1A (R238G)	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 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 411617	NM_004329.3(BMPR1A):c.785T>C (p.Val262Ala)	BMPR1A (V262A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 506428	NM_004329.3(BMPR1A):c.786A>G (p.Val262=)	BMPR1A	Single nucleotide variant (synonymous variant)	BMPR1A-related disorder +3 more	GLikely benign
Select item 184634	NM_004329.3(BMPR1A):c.961C>T (p.Leu321=)	BMPR1A	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 232309	NM_004329.3(BMPR1A):c.1017C>G (p.Ala339=)	BMPR1A	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 132691	NM_004329.3(BMPR1A):c.1140C>T (p.Asp380=)	BMPR1A	Single nucleotide variant (synonymous variant)	Juvenile polyposis syndrome +4 more	GBenign
Select item 127899	NM_004329.3(BMPR1A):c.1217G>A (p.Arg406His)	BMPR1A (R406H)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +2 more	GUncertain significance
Select item 216576	NM_004329.3(BMPR1A):c.1235T>C (p.Val412Ala)	BMPR1A (V412A)	Single nucleotide variant (missense variant)	BMPR1A-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 41779	NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys)	BMPR1A (E415K)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +4 more	GConflicting classifications of pathogenicity
Select item 133717	NM_004329.3(BMPR1A):c.1327C>T (p.Arg443Cys)	BMPR1A (R443C)	Single nucleotide variant (missense variant)	BMPR1A-related disorder +6 more	GConflicting classifications of pathogenicity
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)	Juvenile polyposis syndrome +4 more	GBenign
Select item 489686	NM_004329.3(BMPR1A):c.1411C>T (p.Arg471Cys)	BMPR1A (R471C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 136526	NM_004329.3(BMPR1A):c.1419T>G (p.Val473=)	BMPR1A	Single nucleotide variant (synonymous variant)	Juvenile polyposis syndrome +4 more	GConflicting classifications of pathogenicity
Select item 41781	NM_004329.3(BMPR1A):c.1596C>G (p.Ile532Met)	BMPR1A (I532M)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +3 more	GConflicting classifications of pathogenicity

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Items: 34