ClinVar for MedGen (Select 356898) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 13275741.	NM_005359.6(SMAD4):c.692G>T (p.Gly231Val) GRCh37: Chr18:48584519 GRCh38: Chr18:51058149	SMAD4	G231V	Generalized juvenile polyposis/juvenile polyposis coli, Juvenile polyposis syndrome	Uncertain significance (Jun 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13191182.	NM_004329.3(BMPR1A):c.1426G>A (p.Val476Ile) GRCh37: Chr10:88683216 GRCh38: Chr10:86923459	BMPR1A	V476I	Generalized juvenile polyposis/juvenile polyposis coli, Juvenile polyposis syndrome	Uncertain significance (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13191173.	NM_004329.3(BMPR1A):c.62T>C (p.Val21Ala) GRCh37: Chr10:88635837 GRCh38: Chr10:86876080	BMPR1A	V21A	Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Nov 3, 2021)	criteria provided, single submitter
Select item 10507504.	NM_000455.5(STK11):c.-2_290+1013del GRCh37: Chr19:1206911-1208215 GRCh38: Chr19:1206912-1208216	LOC125371447, STK11		Generalized juvenile polyposis/juvenile polyposis coli	Pathogenic	no assertion criteria provided
Select item 10498005.	NM_005359.6(SMAD4):c.1183G>C (p.Gly395Arg) GRCh37: Chr18:48593432 GRCh38: Chr18:51067062	SMAD4	G395R	Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance	no assertion criteria provided
Select item 10492546.	NM_000455.5(STK11):c.291-2_374+91del GRCh37: Chr19:1218413-1218589 GRCh38: Chr19:1218414-1218590	STK11		Generalized juvenile polyposis/juvenile polyposis coli	Likely pathogenic	no assertion criteria provided
Select item 10202717.	NC_000018.9:g.(?_48556583)_(48603156_?)dup GRCh37: Chr18:48556583-48603156	SMAD4		Juvenile polyposis syndrome, Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Aug 18, 2022)	criteria provided, single submitter
Select item 10111828.	NC_000018.10:g.(?_51030213)_(51078467_?)dup GRCh37: Chr18:48556583-48604837	SMAD4		Generalized juvenile polyposis/juvenile polyposis coli, Juvenile polyposis syndrome	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 10110719.	NC_000010.11:g.(?_86755016)_(86756919_?)dup GRCh37: Chr10:88514773-88516676	BMPR1A		Juvenile polyposis syndrome, Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 100754310.	NC_000010.10:g.(?_88598623)_(88649987_?)dup GRCh37: Chr10:88598623-88649987	BMPR1A		Generalized juvenile polyposis/juvenile polyposis coli, Juvenile polyposis syndrome	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 98779511.	NM_005359.6(SMAD4):c.1392del (p.Val465fs) GRCh37: Chr18:48603090 GRCh38: Chr18:51076720	SMAD4	V465fs	Generalized juvenile polyposis/juvenile polyposis coli	Likely pathogenic (Nov 25, 2020)	criteria provided, single submitter
Select item 98198112.	NC_000010.11:g.(86838980_86875866)_(86876086_86890061)del GRCh37: Chr10:88598737-88649818	BMPR1A		Generalized juvenile polyposis/juvenile polyposis coli	Pathogenic (Feb 26, 2020)	criteria provided, single submitter
Select item 97907113.	NM_004329.3(BMPR1A):c.1533del (p.Arg511fs) GRCh37: Chr10:88683410 GRCh38: Chr10:86923653	BMPR1A	R511fs	Generalized juvenile polyposis/juvenile polyposis coli	Likely pathogenic (Dec 13, 2019)	criteria provided, single submitter
Select item 97867914.	NM_004329.3(BMPR1A):c.1114A>T (p.Lys372Ter) GRCh37: Chr10:88679174 GRCh38: Chr10:86919417	BMPR1A	K372*	Generalized juvenile polyposis/juvenile polyposis coli	Pathogenic	criteria provided, single submitter
Select item 95936715.	NM_005359.6(SMAD4):c.477G>C (p.Lys159Asn) GRCh37: Chr18:48581173 GRCh38: Chr18:51054803	SMAD4	K159N	Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Oct 24, 2019)	criteria provided, single submitter
Select item 94265016.	NM_005359.6(SMAD4):c.1308+1704_1565del GRCh37: Chr18:48595259-48604741 GRCh38: Chr18:51068889-51078371	SMAD4		Generalized juvenile polyposis/juvenile polyposis coli	Pathogenic (Oct 28, 2019)	criteria provided, single submitter
Select item 93545917.	NM_004329.3(BMPR1A):c.868+3G>C GRCh37: Chr10:88677086 GRCh38: Chr10:86917329	BMPR1A		Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Aug 5, 2019)	criteria provided, single submitter
Select item 93320618.	NM_005359.6(SMAD4):c.502G>T (p.Gly168Ter) GRCh37: Chr18:48581198 GRCh38: Chr18:51054828	SMAD4	G168*	Generalized juvenile polyposis/juvenile polyposis coli	Likely pathogenic (Jun 8, 2020)	criteria provided, single submitter
Select item 89253919.	NM_005359.6(SMAD4):c.*5745T>C GRCh37: Chr18:48610582 GRCh38: Chr18:51084212	SMAD4		Myhre syndrome, Generalized juvenile polyposis/juvenile polyposis coli, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89248220.	NM_005359.6(SMAD4):c.*5549A>G GRCh37: Chr18:48610386 GRCh38: Chr18:51084016	SMAD4		Myhre syndrome, Generalized juvenile polyposis/juvenile polyposis coli, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89248121.	NM_005359.6(SMAD4):c.*5547A>G GRCh37: Chr18:48610384 GRCh38: Chr18:51084014	SMAD4		Myhre syndrome, Generalized juvenile polyposis/juvenile polyposis coli, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89226622.	NM_005359.6(SMAD4):c.*2941A>G GRCh37: Chr18:48607778 GRCh38: Chr18:51081408	SMAD4		Myhre syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89209623.	NM_005359.6(SMAD4):c.*1386G>T GRCh37: Chr18:48606223 GRCh38: Chr18:51079853	SMAD4		Myhre syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89205924.	NM_005359.6(SMAD4):c.*936A>G GRCh37: Chr18:48605773 GRCh38: Chr18:51079403	SMAD4		Myhre syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89201425.	NM_005359.6(SMAD4):c.*363C>T GRCh37: Chr18:48605200 GRCh38: Chr18:51078830	SMAD4		Myhre syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89179326.	NM_005359.6(SMAD4):c.-127G>A GRCh37: Chr18:48573290 GRCh38: Chr18:51046920	SMAD4		Myhre syndrome, Generalized juvenile polyposis/juvenile polyposis coli, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89134527.	NM_005359.6(SMAD4):c.*5710T>A GRCh37: Chr18:48610547 GRCh38: Chr18:51084177	SMAD4		Myhre syndrome, Generalized juvenile polyposis/juvenile polyposis coli, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89134428.	NM_005359.6(SMAD4):c.*5631A>G GRCh37: Chr18:48610468 GRCh38: Chr18:51084098	SMAD4		Myhre syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89128629.	NM_005359.6(SMAD4):c.*5542C>T GRCh37: Chr18:48610379 GRCh38: Chr18:51084009	SMAD4		Myhre syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89118130.	NM_005359.6(SMAD4):c.*4262T>G GRCh37: Chr18:48609099 GRCh38: Chr18:51082729	SMAD4		Myhre syndrome, Generalized juvenile polyposis/juvenile polyposis coli, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89118031.	NM_005359.6(SMAD4):c.*4066C>T GRCh37: Chr18:48608903 GRCh38: Chr18:51082533	SMAD4		Myhre syndrome, Generalized juvenile polyposis/juvenile polyposis coli, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89112932.	NM_005359.6(SMAD4):c.*3226G>C GRCh37: Chr18:48608063 GRCh38: Chr18:51081693	SMAD4		Myhre syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89104233.	NM_005359.6(SMAD4):c.*2897G>A GRCh37: Chr18:48607734 GRCh38: Chr18:51081364	SMAD4		Myhre syndrome, Generalized juvenile polyposis/juvenile polyposis coli, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89098034.	NM_005359.6(SMAD4):c.*2217G>A GRCh37: Chr18:48607054 GRCh38: Chr18:51080684	SMAD4		Myhre syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89091635.	NM_005359.6(SMAD4):c.*1786A>G GRCh37: Chr18:48606623 GRCh38: Chr18:51080253	SMAD4		Myhre syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89086236.	NM_005359.6(SMAD4):c.*1315G>A GRCh37: Chr18:48606152 GRCh38: Chr18:51079782	SMAD4		Myhre syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Feb 16, 2018)	criteria provided, single submitter
Select item 89082237.	NM_005359.6(SMAD4):c.*745C>T GRCh37: Chr18:48605582 GRCh38: Chr18:51079212	SMAD4		Myhre syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89082138.	NM_005359.6(SMAD4):c.*720G>A GRCh37: Chr18:48605557 GRCh38: Chr18:51079187	SMAD4		Myhre syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89077539.	NM_005359.6(SMAD4):c.*332A>G GRCh37: Chr18:48605169 GRCh38: Chr18:51078799	SMAD4		Myhre syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89077440.	NM_005359.6(SMAD4):c.*259T>C GRCh37: Chr18:48605096 GRCh38: Chr18:51078726	SMAD4		Myhre syndrome, Generalized juvenile polyposis/juvenile polyposis coli, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89062841.	NM_005359.6(SMAD4):c.*3950A>G GRCh37: Chr18:48608787 GRCh38: Chr18:51082417	SMAD4		Myhre syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Mar 30, 2018)	criteria provided, single submitter
Select item 89056342.	NM_005359.6(SMAD4):c.*3223A>G GRCh37: Chr18:48608060 GRCh38: Chr18:51081690	SMAD4		Myhre syndrome, Generalized juvenile polyposis/juvenile polyposis coli, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89048543.	NM_005359.6(SMAD4):c.*2675A>C GRCh37: Chr18:48607512 GRCh38: Chr18:51081142	SMAD4		Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Myhre syndrome, Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89041144.	NM_005359.6(SMAD4):c.*2215C>T GRCh37: Chr18:48607052 GRCh38: Chr18:51080682	SMAD4		Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Myhre syndrome, Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89035645.	NM_005359.6(SMAD4):c.*1661C>A GRCh37: Chr18:48606498 GRCh38: Chr18:51080128	SMAD4		Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Myhre syndrome, Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89035546.	NM_005359.6(SMAD4):c.*1659C>A GRCh37: Chr18:48606496 GRCh38: Chr18:51080126	SMAD4		Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Myhre syndrome, Generalized juvenile polyposis/juvenile polyposis coli	Benign (Mar 20, 2018)	criteria provided, single submitter
Select item 89035447.	NM_005359.6(SMAD4):c.*1608T>C GRCh37: Chr18:48606445 GRCh38: Chr18:51080075	SMAD4		Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Myhre syndrome, Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89029848.	NM_005359.6(SMAD4):c.*1141A>G GRCh37: Chr18:48605978 GRCh38: Chr18:51079608	SMAD4		Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Myhre syndrome, Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89025449.	NM_005359.6(SMAD4):c.*704G>C GRCh37: Chr18:48605541 GRCh38: Chr18:51079171	SMAD4		Myhre syndrome, Generalized juvenile polyposis/juvenile polyposis coli, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89020250.	NM_005359.6(SMAD4):c.*245T>C GRCh37: Chr18:48605082 GRCh38: Chr18:51078712	SMAD4		Myhre syndrome, Generalized juvenile polyposis/juvenile polyposis coli, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89015551.	NM_005359.6(SMAD4):c.1550G>A (p.Ser517Asn) GRCh37: Chr18:48604728 GRCh38: Chr18:51078358	SMAD4	S517N	Myhre syndrome, Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Dec 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 88997952.	NM_005359.6(SMAD4):c.-400C>A GRCh37: Chr18:48556721 GRCh38: Chr18:51030351	SMAD4		Myhre syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88997853.	NM_005359.6(SMAD4):c.-401C>T GRCh37: Chr18:48556720 GRCh38: Chr18:51030350	SMAD4		Myhre syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Generalized juvenile polyposis/juvenile polyposis coli	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 88979954.	NM_005359.6(SMAD4):c.*5609T>G GRCh37: Chr18:48610446 GRCh38: Chr18:51084076	SMAD4		Myhre syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88973955.	NM_005359.6(SMAD4):c.*5541G>A GRCh37: Chr18:48610378 GRCh38: Chr18:51084008	SMAD4		Myhre syndrome, Generalized juvenile polyposis/juvenile polyposis coli, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88973856.	NM_005359.6(SMAD4):c.*5534C>G GRCh37: Chr18:48610371 GRCh38: Chr18:51084001	SMAD4		Myhre syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88960757.	NM_005359.6(SMAD4):c.*605A>C GRCh37: Chr18:48605442 GRCh38: Chr18:51079072	SMAD4		Myhre syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Jan 17, 2018)	criteria provided, single submitter
Select item 88960658.	NM_005359.6(SMAD4):c.*580A>G GRCh37: Chr18:48605417 GRCh38: Chr18:51079047	SMAD4		Myhre syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88960559.	NM_005359.6(SMAD4):c.*579G>T GRCh37: Chr18:48605416 GRCh38: Chr18:51079046	SMAD4		Myhre syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88954360.	NM_005359.6(SMAD4):c.*170A>G GRCh37: Chr18:48605007 GRCh38: Chr18:51078637	SMAD4		Myhre syndrome, Generalized juvenile polyposis/juvenile polyposis coli, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 88947761.	NM_005359.6(SMAD4):c.1447+15C>A GRCh37: Chr18:48603161 GRCh38: Chr18:51076791	SMAD4		Juvenile polyposis syndrome, Myhre syndrome, Generalized juvenile polyposis/juvenile polyposis coli, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Conflicting interpretations of pathogenicity (Feb 19, 2022)	criteria provided, conflicting interpretations
Select item 88935862.	NM_005359.6(SMAD4):c.-69G>A GRCh37: Chr18:48573348 GRCh38: Chr18:51046978	SMAD4		Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Carcinoma of pancreas, Myhre syndrome, Juvenile polyposis syndrome, Myhre syndrome, Generalized juvenile polyposis/juvenile polyposis coli, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Uncertain significance (Oct 18, 2021)	criteria provided, multiple submitters, no conflicts
Select item 88929863.	NM_005359.6(SMAD4):c.-504A>G GRCh37: Chr18:48556617 GRCh38: Chr18:51030247	SMAD4		Myhre syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88929764.	NM_005359.6(SMAD4):c.-531G>C GRCh37: Chr18:48556590 GRCh38: Chr18:51030220	SMAD4		Myhre syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88924265.	NM_005359.6(SMAD4):c.*6522C>T GRCh37: Chr18:48611359 GRCh38: Chr18:51084989	SMAD4		Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Generalized juvenile polyposis/juvenile polyposis coli, not provided, Myhre syndrome	Conflicting interpretations of pathogenicity (Jul 1, 2022)	criteria provided, conflicting interpretations
Select item 88918166.	NM_005359.6(SMAD4):c.*5833G>A GRCh37: Chr18:48610670 GRCh38: Chr18:51084300	SMAD4		Myhre syndrome, Generalized juvenile polyposis/juvenile polyposis coli, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 88910667.	NM_005359.6(SMAD4):c.*5557A>G GRCh37: Chr18:48610394 GRCh38: Chr18:51084024	SMAD4		Myhre syndrome, Generalized juvenile polyposis/juvenile polyposis coli, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88910568.	NM_005359.6(SMAD4):c.*5555A>G GRCh37: Chr18:48610392 GRCh38: Chr18:51084022	SMAD4		Myhre syndrome, Generalized juvenile polyposis/juvenile polyposis coli, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88910469.	NM_005359.6(SMAD4):c.*5553A>G GRCh37: Chr18:48610390 GRCh38: Chr18:51084020	SMAD4		Myhre syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88904970.	NM_005359.6(SMAD4):c.*5282T>G GRCh37: Chr18:48610119 GRCh38: Chr18:51083749	SMAD4		Myhre syndrome, Generalized juvenile polyposis/juvenile polyposis coli, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88898571.	NM_005359.6(SMAD4):c.*4707G>A GRCh37: Chr18:48609544 GRCh38: Chr18:51083174	SMAD4		Myhre syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88893072.	NM_005359.6(SMAD4):c.*3746A>C GRCh37: Chr18:48608583 GRCh38: Chr18:51082213	SMAD4		Myhre syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88892973.	NM_005359.6(SMAD4):c.*3679A>G GRCh37: Chr18:48608516 GRCh38: Chr18:51082146	SMAD4		Generalized juvenile polyposis/juvenile polyposis coli, Myhre syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88892874.	NM_005359.6(SMAD4):c.*3662C>T GRCh37: Chr18:48608499 GRCh38: Chr18:51082129	SMAD4		Generalized juvenile polyposis/juvenile polyposis coli, Myhre syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 88886375.	NM_005359.6(SMAD4):c.*3109T>A GRCh37: Chr18:48607946 GRCh38: Chr18:51081576	SMAD4		Generalized juvenile polyposis/juvenile polyposis coli, Myhre syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88877776.	NM_005359.6(SMAD4):c.*2561G>C GRCh37: Chr18:48607398 GRCh38: Chr18:51081028	SMAD4		Generalized juvenile polyposis/juvenile polyposis coli, Myhre syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88870777.	NM_005359.6(SMAD4):c.*2099G>A GRCh37: Chr18:48606936 GRCh38: Chr18:51080566	SMAD4		Generalized juvenile polyposis/juvenile polyposis coli, Myhre syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88870678.	NM_005359.6(SMAD4):c.*1874C>G GRCh37: Chr18:48606711 GRCh38: Chr18:51080341	SMAD4		Myhre syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Generalized juvenile polyposis/juvenile polyposis coli, not provided	Conflicting interpretations of pathogenicity (Mar 1, 2023)	criteria provided, conflicting interpretations
Select item 88865179.	NM_005359.6(SMAD4):c.*1513A>T GRCh37: Chr18:48606350 GRCh38: Chr18:51079980	SMAD4		Generalized juvenile polyposis/juvenile polyposis coli, Myhre syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Uncertain significance (Mar 30, 2018)	criteria provided, single submitter
Select item 88865080.	NM_005359.6(SMAD4):c.*1502T>C GRCh37: Chr18:48606339 GRCh38: Chr18:51079969	SMAD4		Generalized juvenile polyposis/juvenile polyposis coli, Myhre syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88864981.	NM_005359.6(SMAD4):c.*1499T>G GRCh37: Chr18:48606336 GRCh38: Chr18:51079966	SMAD4		Generalized juvenile polyposis/juvenile polyposis coli, Myhre syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88859682.	NM_005359.6(SMAD4):c.*1036C>G GRCh37: Chr18:48605873 GRCh38: Chr18:51079503	SMAD4		Generalized juvenile polyposis/juvenile polyposis coli, Myhre syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88859583.	NM_005359.6(SMAD4):c.*969A>G GRCh37: Chr18:48605806 GRCh38: Chr18:51079436	SMAD4		Generalized juvenile polyposis/juvenile polyposis coli, Myhre syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88036884.	NM_004329.3(BMPR1A):c.*1194A>G GRCh37: Chr10:88684670 GRCh38: Chr10:86924913	BMPR1A		Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88036785.	NM_004329.3(BMPR1A):c.*1056A>C GRCh37: Chr10:88684532 GRCh38: Chr10:86924775	BMPR1A		Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88028386.	NM_004329.3(BMPR1A):c.-468G>A GRCh37: Chr10:88516476 GRCh38: Chr10:86756719	BMPR1A		Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88028287.	NM_004329.3(BMPR1A):c.-500A>C GRCh37: Chr10:88516444 GRCh38: Chr10:86756687	BMPR1A		Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88028188.	NM_004329.3(BMPR1A):c.-534G>A GRCh37: Chr10:88516410 GRCh38: Chr10:86756653	BMPR1A		Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87916889.	NM_004329.3(BMPR1A):c.*869T>G GRCh37: Chr10:88684345 GRCh38: Chr10:86924588	BMPR1A		Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87916790.	NM_004329.3(BMPR1A):c.*662A>G GRCh37: Chr10:88684138 GRCh38: Chr10:86924381	BMPR1A		Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87857491.	NM_004329.3(BMPR1A):c.*654A>G GRCh37: Chr10:88684130 GRCh38: Chr10:86924373	BMPR1A		Generalized juvenile polyposis/juvenile polyposis coli	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 87857392.	NM_004329.3(BMPR1A):c.*641A>C GRCh37: Chr10:88684117 GRCh38: Chr10:86924360	BMPR1A		Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87857293.	NM_004329.3(BMPR1A):c.*545G>A GRCh37: Chr10:88684021 GRCh38: Chr10:86924264	BMPR1A		Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87754794.	NM_004329.3(BMPR1A):c.*335G>T GRCh37: Chr10:88683811 GRCh38: Chr10:86924054	BMPR1A		Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87750195.	NM_004329.3(BMPR1A):c.-314C>T GRCh37: Chr10:88516630 GRCh38: Chr10:86756873	BMPR1A		Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87750096.	NM_004329.3(BMPR1A):c.-336C>T GRCh37: Chr10:88516608 GRCh38: Chr10:86756851	BMPR1A		Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 85415497.	NM_004329.3(BMPR1A):c.1571T>C (p.Met524Thr) GRCh37: Chr10:88683448 GRCh38: Chr10:86923691	BMPR1A	M524T	Generalized juvenile polyposis/juvenile polyposis coli, Juvenile polyposis syndrome	Uncertain significance (Jun 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85160598.	NM_005359.6(SMAD4):c.787+2T>C GRCh37: Chr18:48584616 GRCh38: Chr18:51058246	SMAD4		Generalized juvenile polyposis/juvenile polyposis coli, Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome	Likely pathogenic (Mar 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 84563999.	NM_004329.3(BMPR1A):c.443A>G (p.Asp148Gly) GRCh37: Chr10:88659796 GRCh38: Chr10:86900039	BMPR1A	D148G	Hereditary cancer-predisposing syndrome, Generalized juvenile polyposis/juvenile polyposis coli, Juvenile polyposis syndrome	Uncertain significance (Nov 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 832888100.	NC_000010.11:g.(?_86668692)_(86954160_?)del GRCh37: Chr10:88428449-88713917	BMPR1A, LDB3, MMRN2		Generalized juvenile polyposis/juvenile polyposis coli	Pathogenic (Oct 4, 2019)	criteria provided, single submitter

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