C1868081[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 182062	NM_004329.3(BMPR1A):c.5C>T (p.Pro2Leu)	BMPR1A (P2L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 220321	NM_004329.3(BMPR1A):c.59G>A (p.Arg20His)	BMPR1A (R20H)	Single nucleotide variant (missense variant)	Generalized juvenile polyposis/juvenile polyposis coli +3 more	GConflicting classifications of pathogenicity
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 216584	NM_004329.3(BMPR1A):c.83G>A (p.Ser28Asn)	BMPR1A (S28N)	Single nucleotide variant (missense variant)	Generalized juvenile polyposis/juvenile polyposis coli +4 more	GConflicting classifications of pathogenicity
Select item 186884	NM_004329.3(BMPR1A):c.140G>A (p.Gly47Glu)	BMPR1A (G47E)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +4 more	GConflicting classifications of pathogenicity
Select item 371995	NM_004329.3(BMPR1A):c.170C>G (p.Pro57Arg)	BMPR1A (P57R)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +3 more	GUncertain significance
Select item 136050	NM_004329.3(BMPR1A):c.198C>T (p.His66=)	BMPR1A	Single nucleotide variant (synonymous variant)	Generalized juvenile polyposis/juvenile polyposis coli +3 more	GBenign/Likely benign
Select item 371878	NM_004329.3(BMPR1A):c.334-16A>G	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome +1 more	GLikely benign
Select item 188242	NM_004329.3(BMPR1A):c.499A>G (p.Met167Val)	BMPR1A (M167V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing 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)	Juvenile polyposis syndrome +3 more	GBenign/Likely benign
Select item 491004	NM_004329.3(BMPR1A):c.530+12T>C	BMPR1A	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 136051	NM_004329.3(BMPR1A):c.569A>G (p.Asn190Ser)	BMPR1A (N190S)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 132739	NM_004329.3(BMPR1A):c.618A>G (p.Leu206=)	BMPR1A	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 529899	NM_004329.3(BMPR1A):c.676-8C>A	BMPR1A	Single nucleotide variant (intron variant)	Generalized juvenile polyposis/juvenile polyposis coli +1 more	GUncertain significance
Select item 136053	NM_004329.3(BMPR1A):c.676-6A>C	BMPR1A	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 142843	NM_004329.3(BMPR1A):c.676-3A>C	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome +3 more	GConflicting classifications of pathogenicity
Select item 141277	NM_004329.3(BMPR1A):c.713G>A (p.Arg238Gln)	BMPR1A (R238Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 141942	NM_004329.3(BMPR1A):c.733T>A (p.Tyr245Asn)	BMPR1A (Y245N)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +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 +5 more	GConflicting classifications of pathogenicity
Select item 411631	NM_004329.3(BMPR1A):c.829A>G (p.Ile277Val)	BMPR1A (I277V)	Single nucleotide variant (missense variant)	Generalized juvenile polyposis/juvenile polyposis coli +1 more	GUncertain significance
Select item 182068	NM_004329.3(BMPR1A):c.911A>G (p.Gln304Arg)	BMPR1A (Q304R)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 127903	NM_004329.3(BMPR1A):c.953A>G (p.Tyr318Cys)	BMPR1A (Y318C)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +5 more	GConflicting classifications of pathogenicity
Select item 186278	NM_004329.3(BMPR1A):c.993G>A (p.Leu331=)	BMPR1A	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 411640	NM_004329.3(BMPR1A):c.1059A>G (p.Gln353=)	BMPR1A	Single nucleotide variant (synonymous variant)	Juvenile polyposis syndrome +3 more	GConflicting classifications of pathogenicity
Select item 548906	NM_004329.3(BMPR1A):c.1166+14del	BMPR1A	Deletion (intron variant)	Generalized juvenile polyposis/juvenile polyposis coli	GLikely benign
Select item 371910	NM_004329.3(BMPR1A):c.1167-13T>G	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome +1 more	GConflicting classifications of pathogenicity
Select item 141138	NM_004329.3(BMPR1A):c.1215A>C (p.Lys405Asn)	BMPR1A (K405N)	Single nucleotide variant (missense variant)	Polyposis syndrome, hereditary mixed, 2 +4 more	GConflicting classifications of pathogenicity
Select item 140868	NM_004329.3(BMPR1A):c.1216C>T (p.Arg406Cys)	BMPR1A (R406C)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +3 more	GConflicting classifications of pathogenicity
Select item 216576	NM_004329.3(BMPR1A):c.1235T>C (p.Val412Ala)	BMPR1A (V412A)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 41779	NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys)	BMPR1A (E415K)	Single nucleotide variant (missense variant)	not provided +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)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 246435	NM_004329.3(BMPR1A):c.1432C>T (p.Arg478Cys)	BMPR1A (R478C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 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 136049	NM_004329.3(BMPR1A):c.1474-9A>G	BMPR1A	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 548751	NM_004329.3(BMPR1A):c.1502C>G (p.Ser501Ter)	BMPR1A (S501*)	Single nucleotide variant (nonsense)	Generalized juvenile polyposis/juvenile polyposis coli	GUncertain significance
Select item 239857	NM_004329.3(BMPR1A):c.1520A>G (p.Asn507Ser)	BMPR1A (N507S)	Single nucleotide variant (missense variant)	B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1) +6 more	GConflicting classifications of pathogenicity
Select item 183733	NM_005359.6(SMAD4):c.20C>T (p.Thr7Met)	SMAD4 (T7M)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 183887	NM_005359.6(SMAD4):c.21G>A (p.Thr7=)	SMAD4	Single nucleotide variant (synonymous variant)	Myhre syndrome +7 more	GConflicting classifications of pathogenicity
Select item 68788	NM_005359.6(SMAD4):c.38A>G (p.Asn13Ser)	SMAD4 (N13S)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 183699	NM_005359.6(SMAD4):c.102A>G (p.Thr34=)	SMAD4	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 188234	NM_005359.6(SMAD4):c.172A>G (p.Ile58Val)	SMAD4 (I58V)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +8 more	GUncertain significance
Select item 141740	NM_005359.6(SMAD4):c.175A>G (p.Thr59Ala)	SMAD4 (T59A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 372022	NM_005359.6(SMAD4):c.249+9T>C	SMAD4	Single nucleotide variant (intron variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +2 more	GLikely benign
Select item 327110	NM_005359.6(SMAD4):c.249+10A>C	SMAD4	Single nucleotide variant (intron variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +5 more	GConflicting classifications of pathogenicity
Select item 127950	NM_005359.6(SMAD4):c.424+5G>A	SMAD4	Single nucleotide variant (intron variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 460553	NM_005359.6(SMAD4):c.449G>A (p.Ser150Asn)	SMAD4 (S150N)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GConflicting classifications of pathogenicity
Select item 188279	NM_005359.6(SMAD4):c.521C>A (p.Thr174Asn)	SMAD4 (T174N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 185866	NM_005359.6(SMAD4):c.535A>G (p.Ile179Val)	SMAD4 (I179V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +7 more	GUncertain significance
Select item 41789	NM_005359.6(SMAD4):c.565C>T (p.Arg189Cys)	SMAD4 (R189C)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +6 more	GConflicting classifications of pathogenicity
Select item 136076	NM_005359.6(SMAD4):c.575C>T (p.Thr192Ile)	SMAD4 (T192I)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 220122	NM_005359.6(SMAD4):c.606C>G (p.Ala202=)	SMAD4	Single nucleotide variant (synonymous variant)	Generalized juvenile polyposis/juvenile polyposis coli +6 more	GBenign/Likely benign
Select item 378625	NM_005359.6(SMAD4):c.667+9T>C	SMAD4	Single nucleotide variant (intron variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +4 more	GBenign/Likely benign
Select item 136077	NM_005359.6(SMAD4):c.671A>T (p.Gln224Leu)	SMAD4 (Q224L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +8 more	GConflicting classifications of pathogenicity
Select item 215844	NM_005359.6(SMAD4):c.693C>T (p.Gly231=)	SMAD4	Single nucleotide variant (synonymous variant)	Generalized juvenile polyposis/juvenile polyposis coli +6 more	GBenign/Likely benign
Select item 185388	NM_005359.6(SMAD4):c.743A>T (p.Gln248Leu)	SMAD4 (Q248L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 183751	NM_005359.6(SMAD4):c.852A>G (p.Gln284=)	SMAD4	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 135244	NM_005359.6(SMAD4):c.880A>G (p.Met294Val)	SMAD4 (M294V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +6 more	GConflicting classifications of pathogenicity
Select item 548728	NM_005359.6(SMAD4):c.904T>C (p.Trp302Arg)	SMAD4 (W302R)	Single nucleotide variant (missense variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +2 more	GUncertain significance
Select item 245952	NM_005359.6(SMAD4):c.904+14T>C	SMAD4	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 219504	NM_005359.6(SMAD4):c.910G>A (p.Val304Ile)	SMAD4 (V304I)	Single nucleotide variant (missense variant)	Generalized juvenile polyposis/juvenile polyposis coli +5 more	GUncertain significance
Select item 135245	NM_005359.6(SMAD4):c.947A>G (p.Asn316Ser)	SMAD4 (N316S)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 492505	NM_005359.6(SMAD4):c.956-7C>T	SMAD4	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 185189	NM_005359.6(SMAD4):c.1046C>T (p.Thr349Ile)	SMAD4 (T349I)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +5 more	GConflicting classifications of pathogenicity
Select item 492460	NM_005359.6(SMAD4):c.1140-11T>A	SMAD4	Single nucleotide variant (intron variant)	Generalized juvenile polyposis/juvenile polyposis coli +3 more	GConflicting classifications of pathogenicity
Select item 185807	NM_005359.6(SMAD4):c.1248A>G (p.Arg416=)	SMAD4	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 184070	NM_005359.6(SMAD4):c.1422A>C (p.Ser474=)	SMAD4	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +6 more	GBenign/Likely benign
Select item 41788	NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val)	SMAD4 (I525V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 548845	NM_005359.6(SMAD4):c.1647del (p.Gln549fs)	SMAD4 (Q549fs)	Deletion (frameshift variant)	Generalized juvenile polyposis/juvenile polyposis coli +4 more	GUncertain significance
Select item 136074	NM_005359.6(SMAD4):c.1653A>G (p.Leu551=)	SMAD4	Single nucleotide variant (synonymous variant)	Myhre syndrome +7 more	GConflicting classifications of pathogenicity
Select item 142198	NM_000455.5(STK11):c.1012G>A (p.Val338Met)	LOC130062899, STK11 (V338M)	Single nucleotide variant (missense variant)	Carcinoma of pancreas +6 more	GConflicting classifications of pathogenicity

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Items: 70