ClinVar for MedGen (Select 331400) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 1 to 100 of 213

<< First< Prev

Page of 3

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24313331.	NM_005359.6(SMAD4):c.513_514del (p.Leu172fs) GRCh37: Chr18:48581209-48581210 GRCh38: Chr18:51054839-51054840	SMAD4	L172fs	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Pathogenic (Jan 17, 2023)	criteria provided, single submitter
Select item 24312652.	NM_005359.6(SMAD4):c.1552dup (p.Ile518fs) GRCh37: Chr18:48604729-48604730 GRCh38: Chr18:51078359-51078360	SMAD4	I518fs	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Pathogenic (Jan 10, 2023)	criteria provided, single submitter
Select item 18056113.	NM_005359.6(SMAD4):c.293T>G (p.Leu98Arg) GRCh37: Chr18:48575099 GRCh38: Chr18:51048729	SMAD4	L98R	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Uncertain significance (May 6, 2021)	criteria provided, single submitter
Select item 14611644.	NM_005359.6(SMAD4):c.908C>A (p.Pro303His) GRCh37: Chr18:48586239 GRCh38: Chr18:51059869	SMAD4	P303H	Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome, Carcinoma of pancreas, Myhre syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Juvenile polyposis syndrome, Juvenile polyposis syndrome	Uncertain significance (Oct 6, 2021)	criteria provided, multiple submitters, no conflicts
Select item 10329915.	NM_005359.6(SMAD4):c.803_804insCTAAGTGGTAGTA (p.Trp268delinsCysTer) GRCh37: Chr18:48584725-48584726 GRCh38: Chr18:51058355-51058356	SMAD4		Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Likely pathogenic (Sep 22, 2018)	criteria provided, single submitter
Select item 10032116.	NM_005359.6(SMAD4):c.827A>T (p.Tyr276Phe) GRCh37: Chr18:48584749 GRCh38: Chr18:51058379	SMAD4	Y276F	Myhre syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Carcinoma of pancreas, Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome, Familial thoracic aortic aneurysm and aortic dissection, Juvenile polyposis syndrome, not provided	Uncertain significance (Nov 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9824557.	NM_005359.6(SMAD4):c.303G>A (p.Trp101Ter) GRCh37: Chr18:48575109 GRCh38: Chr18:51048739	SMAD4	W101*	Hereditary cancer-predisposing syndrome, Familial thoracic aortic aneurysm and aortic dissection, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Pathogenic (Mar 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 9225578.	NM_005359.6(SMAD4):c.1629G>C (p.Met543Ile) GRCh37: Chr18:48604807 GRCh38: Chr18:51078437	SMAD4	M543I	Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome, Myhre syndrome, Juvenile polyposis syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Carcinoma of pancreas, Hereditary cancer-predisposing syndrome	Uncertain significance (Feb 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 8925399.	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 89248210.	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 89248111.	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 89226612.	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 89209613.	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 89205914.	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 89201415.	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 89179316.	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 89134517.	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 89134418.	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 89128619.	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 89118120.	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 89118021.	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 89112922.	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 89104223.	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 89098024.	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 89091625.	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 89086226.	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 89082227.	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 89082128.	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 89077529.	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 89077430.	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 89062831.	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 89056332.	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 89048533.	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 89041134.	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 89035635.	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 89035536.	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 89035437.	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 89029838.	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 89025439.	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 89020240.	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 89015541.	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 88997942.	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 88997843.	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 88979944.	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 88973945.	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 88973846.	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 88960747.	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 88960648.	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 88960549.	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 88954350.	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 88947751.	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 88935852.	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 88929853.	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 88929754.	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 88924255.	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 88918156.	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 88910657.	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 88910558.	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 88910459.	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 88904960.	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 88898561.	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 88893062.	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 88892963.	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 88892864.	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 88886365.	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 88877766.	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 88870767.	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 88870668.	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 88865169.	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 88865070.	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 88864971.	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 88859672.	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 88859573.	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 81961574.	NM_005359.6(SMAD4):c.1595C>A (p.Ala532Asp) GRCh37: Chr18:48604773 GRCh38: Chr18:51078403	SMAD4	A532D	Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome, Familial thoracic aortic aneurysm and aortic dissection, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Uncertain significance (Apr 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63085575.	NM_005359.6(SMAD4):c.1309G>A (p.Val437Ile) GRCh37: Chr18:48603008 GRCh38: Chr18:51076638	SMAD4	V437I	Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Conflicting interpretations of pathogenicity (Nov 15, 2021)	criteria provided, conflicting interpretations
Select item 62832576.	NM_005359.6(SMAD4):c.1339A>C (p.Met447Leu) GRCh37: Chr18:48603038 GRCh38: Chr18:51076668	SMAD4	M447L	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Juvenile polyposis syndrome, Carcinoma of pancreas, Myhre syndrome, Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Aug 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 59782477.	NM_005359.6(SMAD4):c.1058A>G (p.Tyr353Cys) GRCh37: Chr18:48591895 GRCh38: Chr18:51065525	SMAD4	Y353C	Juvenile polyposis syndrome, not provided, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Conflicting interpretations of pathogenicity (Aug 26, 2021)	criteria provided, conflicting interpretations
Select item 57534078.	NM_005359.6(SMAD4):c.688G>C (p.Gly230Arg) GRCh37: Chr18:48584515 GRCh38: Chr18:51058145	SMAD4	G230R	Myhre syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Carcinoma of pancreas, Juvenile polyposis syndrome, Juvenile polyposis syndrome	Uncertain significance (Nov 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 54856379.	NM_005359.6(SMAD4):c.1308+2T>C GRCh37: Chr18:48593559 GRCh38: Chr18:51067189	SMAD4		Generalized juvenile polyposis/juvenile polyposis coli, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Myhre syndrome	Pathogenic (Mar 5, 2018)	criteria provided, single submitter
Select item 49245880.	NM_005359.6(SMAD4):c.1124C>T (p.Ala375Val) GRCh37: Chr18:48591961 GRCh38: Chr18:51065591	SMAD4	A375V	Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome, not provided, Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome, Myhre syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Nov 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 48644781.	NM_005359.6(SMAD4):c.1023del (p.Pro342fs) GRCh37: Chr18:48591859 GRCh38: Chr18:51065489	SMAD4	P342fs	Hereditary cancer-predisposing syndrome, Familial thoracic aortic aneurysm and aortic dissection, Juvenile polyposis syndrome	Pathogenic (Nov 27, 2019)	criteria provided, multiple submitters, no conflicts
Select item 48480482.	NM_005359.6(SMAD4):c.789C>T (p.Asn263=) GRCh37: Chr18:48584711 GRCh38: Chr18:51058341	SMAD4		Hereditary cancer-predisposing syndrome, Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome, Myhre syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Generalized juvenile polyposis/juvenile polyposis coli	Conflicting interpretations of pathogenicity (Jun 29, 2021)	criteria provided, conflicting interpretations
Select item 48479283.	NM_005359.6(SMAD4):c.298A>C (p.Arg100=) GRCh37: Chr18:48575104 GRCh38: Chr18:51048734	SMAD4		Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Myhre syndrome, Generalized juvenile polyposis/juvenile polyposis coli, Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome	Conflicting interpretations of pathogenicity (Oct 5, 2022)	criteria provided, conflicting interpretations
Select item 46055784.	NM_005359.6(SMAD4):c.566G>A (p.Arg189His) GRCh37: Chr18:48581262 GRCh38: Chr18:51054892	SMAD4	R189H	Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome, Carcinoma of pancreas, Myhre syndrome, Generalized juvenile polyposis/juvenile polyposis coli, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Hereditary cancer-predisposing syndrome, Myhre syndrome, not provided	Conflicting interpretations of pathogenicity (Sep 20, 2022)	criteria provided, conflicting interpretations
Select item 46054185.	NM_005359.6(SMAD4):c.1545A>G (p.Arg515=) GRCh37: Chr18:48604723 GRCh38: Chr18:51078353	SMAD4		Juvenile polyposis syndrome, Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome, not specified, Generalized juvenile polyposis/juvenile polyposis coli, Myhre syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Conflicting interpretations of pathogenicity (Jul 31, 2022)	criteria provided, conflicting interpretations
Select item 46053086.	NM_005359.6(SMAD4):c.1219G>C (p.Val407Leu) GRCh37: Chr18:48593468 GRCh38: Chr18:51067098	SMAD4	V407L	Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome, Carcinoma of pancreas, Myhre syndrome, Generalized juvenile polyposis/juvenile polyposis coli, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Hereditary cancer-predisposing syndrome, not provided	Conflicting interpretations of pathogenicity (Oct 4, 2022)	criteria provided, conflicting interpretations
Select item 41995487.	NM_005359.6(SMAD4):c.181A>G (p.Ile61Val) GRCh37: Chr18:48573597 GRCh38: Chr18:51047227	SMAD4	I61V	Hereditary cancer-predisposing syndrome, not provided, Hereditary cancer-predisposing syndrome, Familial thoracic aortic aneurysm and aortic dissection, Myhre syndrome, Generalized juvenile polyposis/juvenile polyposis coli, Carcinoma of pancreas, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Juvenile polyposis syndrome	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 41955488.	NM_005359.6(SMAD4):c.1651T>G (p.Leu551Val) GRCh37: Chr18:48604829 GRCh38: Chr18:51078459	SMAD4	L551V	Hereditary cancer-predisposing syndrome, Familial thoracic aortic aneurysm and aortic dissection, Myhre syndrome, Carcinoma of pancreas, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Juvenile polyposis syndrome, Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome, not provided	Uncertain significance (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 41343789.	NM_005359.6(SMAD4):c.1632G>A (p.Pro544=) GRCh37: Chr18:48604810 GRCh38: Chr18:51078440	SMAD4		Juvenile polyposis syndrome, not specified, Hereditary cancer-predisposing syndrome, Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome, Myhre syndrome, not provided, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Generalized juvenile polyposis/juvenile polyposis coli	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 41343190.	NM_005359.6(SMAD4):c.1125C>T (p.Ala375=) GRCh37: Chr18:48591962 GRCh38: Chr18:51065592	SMAD4		Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome, Familial thoracic aortic aneurysm and aortic dissection, Myhre syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Carcinoma of pancreas, Juvenile polyposis syndrome	Likely benign (May 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 39314091.	NM_005359.6(SMAD4):c.155A>T (p.Asp52Val) GRCh37: Chr18:48573571 GRCh38: Chr18:51047201	SMAD4	D52V	Hereditary cancer-predisposing syndrome, not provided, Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome, Myhre syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Carcinoma of pancreas, Juvenile polyposis syndrome	Uncertain significance (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37949992.	NM_005359.6(SMAD4):c.*12G>A GRCh37: Chr18:48604849 GRCh38: Chr18:51078479	SMAD4		not specified, Myhre syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Hereditary cancer-predisposing syndrome, Generalized juvenile polyposis/juvenile polyposis coli	Benign/Likely benign (Jan 12, 2018)	criteria provided, multiple submitters, no conflicts
Select item 37919093.	NM_005359.6(SMAD4):c.1492T>C (p.Leu498=) GRCh37: Chr18:48604670 GRCh38: Chr18:51078300	SMAD4		not specified, Hereditary cancer-predisposing syndrome, Familial thoracic aortic aneurysm and aortic dissection, not provided, Juvenile polyposis syndrome, Myhre syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Hereditary cancer-predisposing syndrome, Generalized juvenile polyposis/juvenile polyposis coli	Conflicting interpretations of pathogenicity (Oct 28, 2022)	criteria provided, conflicting interpretations
Select item 37897394.	NM_005359.6(SMAD4):c.876G>A (p.Pro292=) GRCh37: Chr18:48584798 GRCh38: Chr18:51058428	SMAD4		Hereditary cancer-predisposing syndrome, Familial thoracic aortic aneurysm and aortic dissection, Juvenile polyposis syndrome, not specified, Hereditary cancer-predisposing syndrome, Generalized juvenile polyposis/juvenile polyposis coli, Myhre syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Conflicting interpretations of pathogenicity (Dec 6, 2021)	criteria provided, conflicting interpretations
Select item 37497795.	NM_005359.6(SMAD4):c.463A>G (p.Ser155Gly) GRCh37: Chr18:48581159 GRCh38: Chr18:51054789	SMAD4	S155G	Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32721996.	NM_005359.6(SMAD4):c.*6513C>T GRCh37: Chr18:48611350 GRCh38: Chr18:51084980	SMAD4		Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Myhre syndrome, Generalized juvenile polyposis/juvenile polyposis coli	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 32721897.	NM_005359.6(SMAD4):c.*6492A>T GRCh37: Chr18:48611329 GRCh38: Chr18:51084959	SMAD4		Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Myhre syndrome, Generalized juvenile polyposis/juvenile polyposis coli	Benign/Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 32721798.	NM_005359.6(SMAD4):c.*6423G>C GRCh37: Chr18:48611260 GRCh38: Chr18:51084890	SMAD4		Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Myhre syndrome, Generalized juvenile polyposis/juvenile polyposis coli	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 32721699.	NM_005359.6(SMAD4):c.*6408C>T GRCh37: Chr18:48611245 GRCh38: Chr18:51084875	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 327213100.	NM_005359.6(SMAD4):c.*6057G>T GRCh37: Chr18:48610894 GRCh38: Chr18:51084524	SMAD4		Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Generalized juvenile polyposis/juvenile polyposis coli, Myhre syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter

<< First< Prev

Page of 3