ClinVar for MedGen (Select 87518) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3339679	NM_005359.6(SMAD4):c.604_605insAGATCGGAAGAGCACACGTCGCTCTTCCGATCTTTAG (p.Ala202fs)	SMAD4 (A202fs)	Insertion (frameshift variant +1 more)	Juvenile polyposis syndrome	GPathogenic
Select item 3256688	NM_004329.3(BMPR1A):c.758G>A (p.Trp253Ter)	BMPR1A (W139* +5 more)	Single nucleotide variant (nonsense +1 more)	Juvenile polyposis syndrome	GPathogenic
Select item 3244826	NC_000010.10:g.(?_88676881)_(88683476_?)dup	BMPR1A	Duplication	Juvenile polyposis syndrome	GUncertain significance
Select item 3244825	NC_000010.10:g.(?_88516246)_(88528678_?)del	BMPR1A	Deletion	Juvenile polyposis syndrome	GPathogenic
Select item 3244824	NC_000010.10:g.(?_88671987)_(88672151_?)del	BMPR1A	Deletion	Juvenile polyposis syndrome	GPathogenic
Select item 3244823	NC_000010.10:g.(?_88681437)_(88682621_?)del	BMPR1A	Deletion	Juvenile polyposis syndrome	GPathogenic
Select item 3242739	NC_000018.9:g.(?_48565515)_(48591839_?)del	SMAD4	Deletion	Juvenile polyposis syndrome	GPathogenic
Select item 3242738	NC_000018.9:g.(?_48591773)_(48604837_?)dup	SMAD4	Duplication	Juvenile polyposis syndrome	GUncertain significance
Select item 3242737	NC_000018.9:g.(?_48573290)_(48573685_?)dup	SMAD4	Duplication	Juvenile polyposis syndrome	GLikely benign
Select item 3242736	NC_000018.9:g.(?_48604616)_(48604847_?)dup	SMAD4	Duplication	Juvenile polyposis syndrome	GLikely benign
Select item 3242735	NC_000018.9:g.(?_48573290)_(48575704_?)del	SMAD4	Deletion	Juvenile polyposis syndrome	GPathogenic
Select item 3242733	NC_000018.9:g.(?_48556583)_(48593567_?)del	SMAD4	Deletion	Juvenile polyposis syndrome	GPathogenic
Select item 3236417	NM_004329.3(BMPR1A):c.916del (p.Tyr306fs)	BMPR1A (Y192fs +5 more)	Deletion (frameshift variant +1 more)	Juvenile polyposis syndrome	GLikely pathogenic
Select item 3148713	NM_004329.3(BMPR1A):c.1238del (p.Leu413fs)	BMPR1A (L385fs +5 more)	Deletion (frameshift variant +1 more)	Juvenile polyposis syndrome	GPathogenic
Select item 3148059	NM_004329.3(BMPR1A):c.333A>G (p.Lys111=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GLikely benign
Select item 3075410	NM_004329.3(BMPR1A):c.45G>T (p.Leu15Phe)	BMPR1A (L15F)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3075338	NM_004329.3(BMPR1A):c.623A>C (p.Asp208Ala)	BMPR1A (D180A +3 more)	Single nucleotide variant (missense variant +2 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 3074384	NM_004329.3(BMPR1A):c.319G>A (p.Asp107Asn)	BMPR1A (D107N +1 more)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 3074109	NM_004329.3(BMPR1A):c.67+2T>C	BMPR1A	Single nucleotide variant (splice donor variant +1 more)	Juvenile polyposis syndrome	GLikely pathogenic
Select item 3074008	NM_004329.3(BMPR1A):c.805G>C (p.Ala269Pro)	BMPR1A (A155P +5 more)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 3073923	NM_004329.3(BMPR1A):c.886A>T (p.Ile296Phe)	BMPR1A (I182F +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 3073878	NM_004329.3(BMPR1A):c.1424G>T (p.Cys475Phe)	BMPR1A (C361F +5 more)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome +1 more	GUncertain significance
Select item 3073631	NM_004329.3(BMPR1A):c.-15del	BMPR1A	Deletion (5 prime UTR variant +2 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 3073004	NM_004329.3(BMPR1A):c.804A>G (p.Glu268=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GLikely benign
Select item 3072971	NM_004329.3(BMPR1A):c.862A>G (p.Ile288Val)	BMPR1A (I174V +5 more)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 3072691	NM_004329.3(BMPR1A):c.924T>C (p.Ile308=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GLikely benign
Select item 3072325	NM_004329.3(BMPR1A):c.321T>C (p.Asp107=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 3071397	NM_004329.3(BMPR1A):c.1363T>A (p.Leu455Met)	BMPR1A (L341M +5 more)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 3070321	NM_004329.3(BMPR1A):c.611A>C (p.Glu204Ala)	BMPR1A (E176A +3 more)	Single nucleotide variant (missense variant +2 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 3070164	NM_004329.3(BMPR1A):c.637T>G (p.Ser213Ala)	BMPR1A (S185A +3 more)	Single nucleotide variant (missense variant +2 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 3070148	NM_004329.3(BMPR1A):c.650G>A (p.Gly217Asp)	BMPR1A (G189D +3 more)	Single nucleotide variant (missense variant +2 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 3069620	NM_004329.3(BMPR1A):c.1343-10T>G	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GUncertain significance
Select item 3023504	NM_005359.6(SMAD4):c.663C>T (p.Ser221=)	SMAD4	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 3021379	NM_004329.3(BMPR1A):c.169C>T (p.Pro57Ser)	BMPR1A (P29S +1 more)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 3019377	NM_005359.6(SMAD4):c.259C>T (p.Arg87Trp)	SMAD4 (R87W)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +3 more	GUncertain significance
Select item 3018783	NM_004329.3(BMPR1A):c.1138G>C (p.Asp380His)	BMPR1A (D266H +5 more)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 3017861	NM_004329.3(BMPR1A):c.1537A>G (p.Thr513Ala)	BMPR1A (T513A +5 more)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 3013479	NM_004329.3(BMPR1A):c.675+15C>T	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 3012158	NM_005359.6(SMAD4):c.801C>G (p.Thr267=)	SMAD4	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GLikely benign
Select item 3010616	NM_004329.3(BMPR1A):c.623A>G (p.Asp208Gly)	BMPR1A (D224G +3 more)	Single nucleotide variant (missense variant +2 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 3006874	NM_004329.3(BMPR1A):c.1377C>T (p.Asn459=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GLikely benign
Select item 3004492	NM_004329.3(BMPR1A):c.530+11A>T	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 2999968	NM_005359.6(SMAD4):c.1165T>C (p.Leu389=)	SMAD4	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GLikely benign
Select item 2999924	NM_005359.6(SMAD4):c.811A>G (p.Ser271Gly)	SMAD4 (S271G)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2996753	NM_004329.3(BMPR1A):c.868+18C>A	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 2995871	NM_005359.6(SMAD4):c.1334G>A (p.Arg445Gln)	SMAD4 (R445Q)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2994825	NM_005359.6(SMAD4):c.1408C>A (p.Pro470Thr)	SMAD4 (P470T)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2994203	NM_004329.3(BMPR1A):c.231-3T>C	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GUncertain significance
Select item 2993844	NM_005359.6(SMAD4):c.1145A>C (p.His382Pro)	SMAD4 (H382P)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2993835	NM_005359.6(SMAD4):c.453T>C (p.Asn151=)	SMAD4	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2989754	NM_004329.3(BMPR1A):c.676-9dup	BMPR1A	Duplication (intron variant)	Juvenile polyposis syndrome	GBenign
Select item 2985599	NM_004329.3(BMPR1A):c.1343-7C>T	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 2981611	NM_005359.6(SMAD4):c.508C>T (p.Pro170Ser)	SMAD4 (P170S)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2980430	NM_004329.3(BMPR1A):c.930T>C (p.Asp310=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GLikely benign
Select item 2975307	NM_005359.6(SMAD4):c.460T>C (p.Ser154Pro)	SMAD4 (S154P)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2966944	NM_005359.6(SMAD4):c.1504A>C (p.Arg502=)	SMAD4	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GLikely benign
Select item 2965602	NM_005359.6(SMAD4):c.260G>A (p.Arg87Gln)	SMAD4 (R87Q)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2964367	NM_005359.6(SMAD4):c.1623T>C (p.His541=)	SMAD4	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GLikely benign
Select item 2962986	NM_004329.3(BMPR1A):c.240A>G (p.Gly80=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome +1 more	GLikely benign
Select item 2962588	NM_005359.6(SMAD4):c.1450C>G (p.Leu484Val)	SMAD4 (L484V)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2962393	NM_004329.3(BMPR1A):c.1166+3G>A	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GUncertain significance
Select item 2960204	NM_004329.3(BMPR1A):c.1223T>A (p.Met408Lys)	BMPR1A (M294K +5 more)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2958938	NM_005359.6(SMAD4):c.504A>T (p.Gly168=)	SMAD4	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GLikely benign
Select item 2957931	NM_004329.3(BMPR1A):c.1191C>T (p.Pro397=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2954585	NM_005359.6(SMAD4):c.1118C>T (p.Thr373Ile)	SMAD4 (T373I)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2919899	NM_005359.6(SMAD4):c.1447+13T>C	SMAD4	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 2918155	NM_004329.3(BMPR1A):c.1131C>T (p.Cys377=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GLikely benign
Select item 2910020	NM_005359.6(SMAD4):c.43G>T (p.Ala15Ser)	SMAD4 (A15S)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2908114	NM_005359.6(SMAD4):c.956-14T>C	SMAD4	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 2907990	NM_005359.6(SMAD4):c.956-15A>G	SMAD4	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 2898905	NM_005359.6(SMAD4):c.250-19T>C	SMAD4	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 2894650	NM_004329.3(BMPR1A):c.658T>A (p.Ser220Thr)	BMPR1A (S220T +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2891788	NM_005359.6(SMAD4):c.1563A>T (p.Thr521=)	SMAD4	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GLikely benign
Select item 2886933	NM_005359.6(SMAD4):c.425-19T>C	SMAD4	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 2884432	NM_004329.3(BMPR1A):c.675+11C>A	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 2883568	NM_005359.6(SMAD4):c.788-13C>G	SMAD4	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 2882926	NM_005359.6(SMAD4):c.1498A>C (p.Ile500Leu)	SMAD4 (I500L)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2882826	NM_004329.3(BMPR1A):c.68-14del	BMPR1A	Deletion (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 2881153	NM_004329.3(BMPR1A):c.342A>G (p.Pro114=)	BMPR1A	Single nucleotide variant (synonymous variant +2 more)	Juvenile polyposis syndrome +1 more	GLikely benign
Select item 2877793	NM_005359.6(SMAD4):c.905-11C>T	SMAD4	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 2875960	NM_005359.6(SMAD4):c.162G>A (p.Leu54=)	SMAD4	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GLikely benign
Select item 2875306	NM_004329.3(BMPR1A):c.1084G>C (p.Asp362His)	BMPR1A (D362H +5 more)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2874516	NM_004329.3(BMPR1A):c.1342+4G>A	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 2873324	NM_004329.3(BMPR1A):c.675+2T>C	BMPR1A	Single nucleotide variant (splice donor variant +1 more)	Juvenile polyposis syndrome	GLikely pathogenic
Select item 2871400	NM_005359.6(SMAD4):c.632C>T (p.Thr211Ile)	SMAD4 (T211I)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2870288	NM_005359.6(SMAD4):c.878C>A (p.Pro293His)	SMAD4 (P293H)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2866871	NM_004329.3(BMPR1A):c.892G>T (p.Gly298Cys)	BMPR1A (G298C +5 more)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2866138	NM_004329.3(BMPR1A):c.231-2A>G	BMPR1A	Single nucleotide variant (splice acceptor variant)	Juvenile polyposis syndrome	GLikely pathogenic
Select item 2865542	NM_005359.6(SMAD4):c.166T>G (p.Ser56Ala)	SMAD4 (S56A)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2865122	NM_004329.3(BMPR1A):c.1509C>T (p.Cys503=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GLikely benign
Select item 2864299	NM_004329.3(BMPR1A):c.1167-3C>A	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GUncertain significance
Select item 2864292	NM_005359.6(SMAD4):c.700dup (p.Ser234fs)	SMAD4 (S234fs)	Duplication (frameshift variant +1 more)	Juvenile polyposis syndrome	GPathogenic
Select item 2863668	NM_004329.3(BMPR1A):c.168G>T (p.Leu56Phe)	BMPR1A (L28F +1 more)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2863344	NM_005359.6(SMAD4):c.653C>G (p.Pro218Arg)	SMAD4 (P218R)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2862623	NM_005359.6(SMAD4):c.904+16_904+61del	SMAD4	Deletion (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 2862501	NM_005359.6(SMAD4):c.1309-2del	SMAD4	Deletion (splice acceptor variant)	Juvenile polyposis syndrome	GBenign
Select item 2862403	NM_005359.6(SMAD4):c.936_939del (p.Pro313fs)	SMAD4 (P313fs)	Deletion (frameshift variant +1 more)	Juvenile polyposis syndrome	GPathogenic
Select item 2862107	NM_004329.3(BMPR1A):c.1166+2dup	BMPR1A	Duplication (splice donor variant)	Juvenile polyposis syndrome	GUncertain significance
Select item 2861991	NM_004329.3(BMPR1A):c.230+20C>A	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 2861413	NM_004329.3(BMPR1A):c.664C>G (p.Leu222Val)	BMPR1A (L194V +3 more)	Single nucleotide variant (missense variant +2 more)	Juvenile polyposis syndrome +1 more	GUncertain significance

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