ClinVar for Gene (Select 657) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3347155	NM_004329.3(BMPR1A):c.1562T>G (p.Leu521Arg)	BMPR1A (L407R +5 more)	Single nucleotide variant (missense variant +1 more)	BMPR1A-related disorder	GUncertain significance
Select item 3346238	NM_004329.3(BMPR1A):c.231-4T>G	BMPR1A	Single nucleotide variant (intron variant)	BMPR1A-related disorder	GLikely benign
Select item 3337381	NM_004329.3:c.333+1362_531-5517del	BMPR1A	Deletion	not provided	GLikely pathogenic
Select item 3261236	NM_004329.3(BMPR1A):c.542A>C (p.Lys181Thr)	BMPR1A (K153T +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3261235	NM_004329.3(BMPR1A):c.1331G>T (p.Cys444Phe)	BMPR1A (C416F +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3261234	NM_004329.3(BMPR1A):c.768A>G (p.Glu256=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3261233	NM_004329.3(BMPR1A):c.1518C>T (p.His506=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3261232	NM_004329.3(BMPR1A):c.757T>C (p.Trp253Arg)	BMPR1A (W139R +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3261231	NM_004329.3(BMPR1A):c.1151C>G (p.Ala384Gly)	BMPR1A (A356G +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3261230	NM_004329.3(BMPR1A):c.859A>T (p.Asn287Tyr)	BMPR1A (N312Y +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3261227	NM_004329.3(BMPR1A):c.397T>C (p.Tyr133His)	BMPR1A (Y105H +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3261226	NM_004329.3(BMPR1A):c.966A>C (p.Lys322Asn)	BMPR1A (K208N +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3261225	NM_004329.3(BMPR1A):c.1227T>C (p.Ala409=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3261224	NM_004329.3(BMPR1A):c.312A>T (p.Glu104Asp)	BMPR1A (E76D +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3261222	NM_004329.3(BMPR1A):c.1112A>T (p.Lys371Met)	BMPR1A (K371M +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3261221	NM_004329.3(BMPR1A):c.898G>A (p.Gly300Ser)	BMPR1A (G300S +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GBenign
Select item 3261220	NM_004329.3(BMPR1A):c.218A>G (p.Asn73Ser)	BMPR1A (N73S +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3261219	NM_004329.3(BMPR1A):c.742G>A (p.Val248Ile)	BMPR1A (V134I +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3261218	NM_004329.3(BMPR1A):c.1492A>T (p.Lys498Ter)	BMPR1A (K470* +5 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 3261217	NM_004329.3(BMPR1A):c.676-1G>T	BMPR1A	Single nucleotide variant (splice acceptor variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3261216	NM_004329.3(BMPR1A):c.70C>A (p.Gln24Lys)	BMPR1A (Q24K)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3261214	NM_004329.3(BMPR1A):c.677T>C (p.Val226Ala)	BMPR1A (V242A +4 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3261213	NM_004329.3(BMPR1A):c.1467T>G (p.Ser489Arg)	BMPR1A (S487R +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3261212	NM_004329.3(BMPR1A):c.1474-1G>A	BMPR1A	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3261211	NM_004329.3(BMPR1A):c.948T>G (p.Ser316=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3261210	NM_004329.3(BMPR1A):c.701T>C (p.Ile234Thr)	BMPR1A (I234T +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3261209	NM_004329.3(BMPR1A):c.346G>A (p.Ala116Thr)	BMPR1A (A116T +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3261206	NM_004329.3(BMPR1A):c.378G>A (p.Arg126=)	BMPR1A	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
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 3256500	NM_004329.3(BMPR1A):c.*43T>C	BMPR1A	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3256499	NM_004329.3(BMPR1A):c.1343-32T>C	BMPR1A	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3256498	NM_004329.3(BMPR1A):c.675+29T>A	BMPR1A	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3256497	NM_004329.3(BMPR1A):c.116C>G (p.Ser39Cys)	BMPR1A (S11C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3256495	NM_004329.3(BMPR1A):c.-11A>C	BMPR1A	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 3256494	NM_004329.3(BMPR1A):c.-16A>G	BMPR1A	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 3253073	NM_004329.3(BMPR1A):c.1517A>C (p.His506Pro)	BMPR1A (H392P +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3252738	NM_004329.3(BMPR1A):c.469C>T (p.Leu157Phe)	BMPR1A (L129F +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3244887	NC_000010.10:g.(?_88514773)_(89725229_?)del	ADIRF, ADIRF-AS1 +13 more	Deletion	PTEN hamartoma tumor syndrome	GPathogenic
Select item 3244837	NC_000010.10:g.(?_88428449)_(88659903_?)dup	BMPR1A, LDB3	Duplication	Myofibrillar myopathy 4	GUncertain significance
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 3240936	NM_004329.3(BMPR1A):c.460C>A (p.Leu154Met)	BMPR1A (L126M +1 more)	Single nucleotide variant (missense variant +2 more)	Polyposis syndrome, hereditary mixed, 2	GUncertain significance
Select item 3240935	NM_004329.3(BMPR1A):c.667C>T (p.Pro223Ser)	BMPR1A (P195S +3 more)	Single nucleotide variant (missense variant +2 more)	Polyposis syndrome, hereditary mixed, 2	GUncertain significance
Select item 3240934	NM_004329.3(BMPR1A):c.1349T>C (p.Val450Ala)	BMPR1A (V336A +5 more)	Single nucleotide variant (missense variant +1 more)	Polyposis syndrome, hereditary mixed, 2	GUncertain significance
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 3223976	NM_004329.3(BMPR1A):c.976C>T (p.Leu326=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3223975	NM_004329.3(BMPR1A):c.956A>G (p.Asp319Gly)	BMPR1A (D205G +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223974	NM_004329.3(BMPR1A):c.878C>A (p.Ala293Glu)	BMPR1A (A179E +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223972	NM_004329.3(BMPR1A):c.869-4A>G	BMPR1A	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3223971	NM_004329.3(BMPR1A):c.852C>G (p.Arg284=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3223970	NM_004329.3(BMPR1A):c.850C>A (p.Arg284Ser)	BMPR1A (R170S +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223968	NM_004329.3(BMPR1A):c.818G>C (p.Arg273Pro)	BMPR1A (R159P +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223967	NM_004329.3(BMPR1A):c.806C>A (p.Ala269Asp)	BMPR1A (A155D +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223966	NM_004329.3(BMPR1A):c.79G>A (p.Asp27Asn)	BMPR1A (D27N)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223965	NM_004329.3(BMPR1A):c.792T>A (p.Phe264Leu)	BMPR1A (F150L +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223964	NM_004329.3(BMPR1A):c.772G>A (p.Val258Met)	BMPR1A (V144M +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223962	NM_004329.3(BMPR1A):c.676-4_676-1dup	BMPR1A	Duplication (splice acceptor variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 3223961	NM_004329.3(BMPR1A):c.67+5del	BMPR1A	Deletion (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223960	NM_004329.3(BMPR1A):c.636_641del (p.212QS[1])	BMPR1A	Deletion (inframe_deletion +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223959	NM_004329.3(BMPR1A):c.584A>T (p.Gln195Leu)	BMPR1A (Q167L +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223958	NM_004329.3(BMPR1A):c.57T>G (p.Ser19=)	BMPR1A	Single nucleotide variant (synonymous variant +3 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3223957	NM_004329.3(BMPR1A):c.562C>A (p.Arg188Ser)	BMPR1A (R160S +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223955	NM_004329.3(BMPR1A):c.501G>T (p.Met167Ile)	BMPR1A (M139I +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223954	NM_004329.3(BMPR1A):c.477T>C (p.Ser159=)	BMPR1A	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3223952	NM_004329.3(BMPR1A):c.40T>A (p.Tyr14Asn)	BMPR1A (Y14N)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223951	NM_004329.3(BMPR1A):c.284C>G (p.Thr95Arg)	BMPR1A (T67R +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223950	NM_004329.3(BMPR1A):c.24_31del (p.Arg9fs)	BMPR1A (R9fs)	Deletion (frameshift variant +3 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 3223949	NM_004329.3(BMPR1A):c.1595T>A (p.Ile532Asn)	BMPR1A (I418N +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223948	NM_004329.3(BMPR1A):c.1536C>G (p.Leu512=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3223946	NM_004329.3(BMPR1A):c.1387A>G (p.Ser463Gly)	BMPR1A (S349G +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223945	NM_004329.3(BMPR1A):c.1360C>A (p.Gln454Lys)	BMPR1A (Q340K +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223944	NM_004329.3(BMPR1A):c.1271C>G (p.Pro424Arg)	BMPR1A (P310R +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223943	NM_004329.3(BMPR1A):c.1265T>C (p.Phe422Ser)	BMPR1A (F308S +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223941	NM_004329.3(BMPR1A):c.1225G>T (p.Ala409Ser)	BMPR1A (A295S +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223940	NM_004329.3(BMPR1A):c.1159T>G (p.Phe387Val)	BMPR1A (F273V +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223939	NM_004329.3(BMPR1A):c.1113G>A (p.Lys371=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3223938	NM_004329.3(BMPR1A):c.1092G>A (p.Lys364=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3223937	NM_004329.3(BMPR1A):c.1077T>A (p.Ala359=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
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 3076201	NM_004329.3(BMPR1A):c.68-15_68-12del	BMPR1A	Deletion (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
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

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