ClinVar for MedGen (Select 350500) - ClinVar

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

Result Filters

Links from MedGen

Items: 23

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 10757691.	NM_004329.3(BMPR1A):c.127_137del (p.Lys43fs) GRCh37: Chr10:88649875-88649885 GRCh38: Chr10:86890118-86890128	BMPR1A	K43fs	Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome	Pathogenic (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 9976702.	NM_004329.3(BMPR1A):c.979G>A (p.Asp327Asn) GRCh37: Chr10:88679039 GRCh38: Chr10:86919282	BMPR1A	D327N	Juvenile polyposis syndrome, Polyposis syndrome, hereditary mixed, 2	Uncertain significance (Aug 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 8256383.	NM_004329.3(BMPR1A):c.531-1G>T GRCh37: Chr10:88671996 GRCh38: Chr10:86912239	BMPR1A		Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome, Polyposis syndrome, hereditary mixed, 2	Likely pathogenic (Aug 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 8237414.	NM_004329.3(BMPR1A):c.340C>G (p.Pro114Ala) GRCh37: Chr10:88659557 GRCh38: Chr10:86899800	BMPR1A	P114A	Polyposis syndrome, hereditary mixed, 2, Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome	Uncertain significance (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 5786845.	NM_004329.3(BMPR1A):c.1374C>A (p.Tyr458Ter) GRCh37: Chr10:88683164 GRCh38: Chr10:86923407	BMPR1A	Y458*	Polyposis syndrome, hereditary mixed, 2, Juvenile polyposis syndrome, Juvenile polyposis syndrome	Pathogenic (Oct 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 4896986.	NM_004329.3(BMPR1A):c.571C>T (p.Arg191Cys) GRCh37: Chr10:88672037 GRCh38: Chr10:86912280	BMPR1A	R191C	Polyposis syndrome, hereditary mixed, 2, Juvenile polyposis syndrome, Juvenile polyposis syndrome, not specified, Hereditary cancer-predisposing syndrome	Uncertain significance (Aug 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 4853687.	NM_004329.3(BMPR1A):c.1048T>C (p.Tyr350His) GRCh37: Chr10:88679108 GRCh38: Chr10:86919351	BMPR1A	Y350H	Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome, not provided, Polyposis syndrome, hereditary mixed, 2	Conflicting interpretations of pathogenicity (Sep 16, 2022)	criteria provided, conflicting interpretations
Select item 4188738.	NM_004329.3(BMPR1A):c.233C>T (p.Thr78Ile) GRCh37: Chr10:88651886 GRCh38: Chr10:86892129	BMPR1A	T78I	Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome, not provided	Conflicting interpretations of pathogenicity (Aug 15, 2023)	criteria provided, conflicting interpretations
Select item 4116439.	NM_004329.3(BMPR1A):c.94G>C (p.Gly32Arg) GRCh37: Chr10:88649845 GRCh38: Chr10:86890088	BMPR1A	G32R	Juvenile polyposis syndrome, Polyposis syndrome, hereditary mixed, 2, Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome, not provided	Conflicting interpretations of pathogenicity (Nov 2, 2022)	criteria provided, conflicting interpretations
Select item 37416510.	NM_004329.3(BMPR1A):c.502ATC[1] (p.Ile169del) GRCh37: Chr10:88659855-88659857 GRCh38: Chr10:86900098-86900100	BMPR1A	I169del	Polyposis syndrome, hereditary mixed, 2, Palpitations, Hand oligodactyly, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the phalanges of the hand	Uncertain significance (Jan 1, 2016)	criteria provided, single submitter
Select item 30136011.	NM_004329.3(BMPR1A):c.*487A>G GRCh37: Chr10:88683963 GRCh38: Chr10:86924206	BMPR1A		Polyposis syndrome, hereditary mixed, 2, Juvenile polyposis syndrome, Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 30135212.	NM_004329.3(BMPR1A):c.1342+6A>G GRCh37: Chr10:88681458 GRCh38: Chr10:86921701	BMPR1A		Hereditary cancer-predisposing syndrome, not provided, Generalized juvenile polyposis/juvenile polyposis coli, Juvenile polyposis syndrome, not specified	Benign (Aug 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 25928713.	NM_004329.3(BMPR1A):c.675+12G>A GRCh37: Chr10:88672153 GRCh38: Chr10:86912396	BMPR1A		Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome, not specified, not provided, Generalized juvenile polyposis/juvenile polyposis coli	Benign (Aug 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 23034614.	NM_004329.3(BMPR1A):c.1438C>T (p.Arg480Trp) GRCh37: Chr10:88683228 GRCh38: Chr10:86923471	BMPR1A	R480W	Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome, not specified, not provided	Conflicting interpretations of pathogenicity (Aug 19, 2022)	criteria provided, conflicting interpretations
Select item 18519215.	NM_004329.3(BMPR1A):c.1379T>C (p.Met460Thr) GRCh37: Chr10:88683169 GRCh38: Chr10:86923412	BMPR1A	M460T	Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome, not provided, Polyposis syndrome, hereditary mixed, 2, Generalized juvenile polyposis/juvenile polyposis coli	Conflicting interpretations of pathogenicity (Aug 6, 2022)	criteria provided, conflicting interpretations
Select item 18370816.	NM_004329.3(BMPR1A):c.435G>A (p.Pro145=) GRCh37: Chr10:88659788 GRCh38: Chr10:86900031	BMPR1A		Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome, not specified, not provided, Generalized juvenile polyposis/juvenile polyposis coli	Benign (Aug 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 14259917.	NM_004329.3(BMPR1A):c.760C>T (p.Arg254Cys) GRCh37: Chr10:88676975 GRCh38: Chr10:86917218	BMPR1A	R254C	Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome, not specified, Generalized juvenile polyposis/juvenile polyposis coli, Polyposis syndrome, hereditary mixed, 2, not provided, Generalized juvenile polyposis/juvenile polyposis coli, Polyposis syndrome, hereditary mixed, 2	Conflicting interpretations of pathogenicity (Aug 22, 2023)	criteria provided, conflicting interpretations
Select item 14102218.	NM_004329.3(BMPR1A):c.478A>G (p.Met160Val) GRCh37: Chr10:88659831 GRCh38: Chr10:86900074	BMPR1A	M160V	Juvenile polyposis syndrome, not provided, Hereditary cancer-predisposing syndrome, not specified, Polyposis syndrome, hereditary mixed, 2, Juvenile polyposis syndrome	Conflicting interpretations of pathogenicity (Oct 8, 2022)	criteria provided, conflicting interpretations
Select item 13605219.	NM_004329.3(BMPR1A):c.676-5T>C GRCh37: Chr10:88676886 GRCh38: Chr10:86917129	BMPR1A		Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome, not provided, Generalized juvenile polyposis/juvenile polyposis coli	Benign/Likely benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 13371720.	NM_004329.3(BMPR1A):c.1327C>T (p.Arg443Cys) GRCh37: Chr10:88681437 GRCh38: Chr10:86921680	BMPR1A	R443C	Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome, not specified, not provided, Polyposis syndrome, hereditary mixed, 2, Generalized juvenile polyposis/juvenile polyposis coli	Conflicting interpretations of pathogenicity (Aug 15, 2023)	criteria provided, conflicting interpretations
Select item 12790221.	NM_004329.3(BMPR1A):c.676G>T (p.Val226Phe) GRCh37: Chr10:88676891 GRCh38: Chr10:86917134	BMPR1A	V226F	Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome, Generalized juvenile polyposis/juvenile polyposis coli, Polyposis syndrome, hereditary mixed, 2, not specified, not provided, Generalized juvenile polyposis/juvenile polyposis coli	Conflicting interpretations of pathogenicity (Dec 15, 2022)	criteria provided, conflicting interpretations
Select item 12790022.	NM_004329.3(BMPR1A):c.1300G>A (p.Gly434Ser) GRCh37: Chr10:88681410 GRCh38: Chr10:86921653	BMPR1A	G434S	Polyposis syndrome, hereditary mixed, 2, Juvenile polyposis syndrome, Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome, not provided	Conflicting interpretations of pathogenicity (Mar 29, 2023)	criteria provided, conflicting interpretations
Select item 4178023.	NM_004329.3(BMPR1A):c.1433G>A (p.Arg478His) GRCh37: Chr10:88683223 GRCh38: Chr10:86923466	BMPR1A	R478H	Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome, Generalized juvenile polyposis/juvenile polyposis coli, Polyposis syndrome, hereditary mixed, 2, not specified, not provided, Generalized juvenile polyposis/juvenile polyposis coli	Conflicting interpretations of pathogenicity (Mar 2, 2023)	criteria provided, conflicting interpretations

ClinVar

Result Filters

Clinical significance

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 23