"GeneDx"[submitter] AND "BDP1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1316895	NC_000005.10:g.71455620C>T	BDP1	Single nucleotide variant	not provided	GLikely benign
Select item 1318286	NM_018429.3(BDP1):c.-80A>T	BDP1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1225194	NM_018429.3(BDP1):c.77A>G (p.Asn26Ser)	BDP1 (N26S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 508084	NM_018429.3(BDP1):c.114T>G (p.Asp38Glu)	BDP1 (D38E)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1318403	NM_018429.3(BDP1):c.165A>G (p.Thr55=)	BDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 672381	NM_018429.3(BDP1):c.193G>A (p.Glu65Lys)	BDP1 (E65K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1249767	NM_018429.3(BDP1):c.213-244G>C	BDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280314	NM_018429.3(BDP1):c.282A>T (p.Arg94Ser)	BDP1 (R94S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 684104	NM_018429.3(BDP1):c.374C>T (p.Ala125Val)	BDP1 (A125V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1318315	NM_018429.3(BDP1):c.390C>T (p.Ala130=)	BDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 683165	NM_018429.3(BDP1):c.599+8A>G	BDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1700524	NM_018429.3(BDP1):c.599+49_599+53dup	BDP1	Duplication (intron variant)	not provided	GLikely benign
Select item 1317949	NM_018429.3(BDP1):c.599+51_599+53dup	BDP1	Duplication (intron variant)	not provided	GLikely benign
Select item 1294001	NM_018429.3(BDP1):c.599+52_599+53dup	BDP1	Duplication (intron variant)	not provided	GBenign
Select item 1250600	NM_018429.3(BDP1):c.599+53dup	BDP1	Duplication (intron variant)	not provided	GBenign
Select item 1317595	NM_018429.3(BDP1):c.599+51_599+53del	BDP1	Deletion (intron variant)	not provided	GLikely benign
Select item 1245971	NM_018429.3(BDP1):c.599+53del	BDP1	Deletion (intron variant)	not provided	GBenign
Select item 1183277	NM_018429.3(BDP1):c.599+52_599+53del	BDP1	Deletion (intron variant)	not provided	GBenign
Select item 1271372	NM_018429.3(BDP1):c.600-212del	BDP1	Duplication (intron variant)	not provided	GBenign
Select item 1240706	NM_018429.3(BDP1):c.600-213_600-212del	BDP1	Deletion (intron variant)	not provided	GBenign
Select item 1236968	NM_018429.3(BDP1):c.600-128C>T	BDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 512221	NM_018429.3(BDP1):c.638C>T (p.Ser213Leu)	BDP1 (S213L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1296657	NM_018429.3(BDP1):c.659+47A>C	BDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242010	NM_018429.3(BDP1):c.785+143A>G	BDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316784	NM_018429.3(BDP1):c.786-297_786-296del	BDP1	Deletion (intron variant)	not provided	GLikely benign
Select item 1178527	NM_018429.3(BDP1):c.786-292C>G	BDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318166	NM_018429.3(BDP1):c.786-279C>G	BDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316193	NM_018429.3(BDP1):c.786-270T>C	BDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248829	NM_018429.3(BDP1):c.786-246G>A	BDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182790	NM_018429.3(BDP1):c.786-229T>C	BDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263705	NM_018429.3(BDP1):c.786-122G>A	BDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245315	NM_018429.3(BDP1):c.786-93A>G	BDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238432	NM_018429.3(BDP1):c.823G>A (p.Val275Ile)	BDP1 (V275I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1261821	NM_018429.3(BDP1):c.919+147C>T	BDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316837	NM_018429.3(BDP1):c.920-265C>G	BDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316736	NM_018429.3(BDP1):c.920-27A>G	BDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318035	NM_018429.3(BDP1):c.1014+113T>C	BDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316863	NM_018429.3(BDP1):c.1014+123A>G	BDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317512	NM_018429.3(BDP1):c.1014+255C>T	BDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682761	NM_018429.3(BDP1):c.1015-58A>T	BDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316359	NM_018429.3(BDP1):c.1069+24A>G	BDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1224096	NM_018429.3(BDP1):c.1070-94_1070-91del	BDP1	Microsatellite (intron variant)	not provided	GBenign
Select item 1318260	NM_018429.3(BDP1):c.1078C>T (p.Arg360Cys)	BDP1 (R360C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1249334	NM_018429.3(BDP1):c.1203A>G (p.Lys401=)	BDP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1246444	NM_018429.3(BDP1):c.1213+224C>G	BDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 512248	NM_018429.3(BDP1):c.1245T>C (p.Asn415=)	BDP1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1317588	NM_018429.3(BDP1):c.1294C>A (p.Gln432Lys)	BDP1 (Q432K)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1317374	NM_018429.3(BDP1):c.1492+21A>G	BDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318355	NM_018429.3(BDP1):c.1492+142G>A	BDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316550	NM_018429.3(BDP1):c.1492+179del	BDP1	Deletion (intron variant)	not provided	GLikely benign
Select item 1317523	NM_018429.3(BDP1):c.1492+314A>G	BDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263489	NM_018429.3(BDP1):c.1493-96T>G	BDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259597	NM_018429.3(BDP1):c.1493-84_1493-83insCA	BDP1	Duplication (intron variant)	not provided	GBenign
Select item 515793	NM_018429.3(BDP1):c.1512G>T (p.Arg504Ser)	BDP1 (R504S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1317675	NM_018429.3(BDP1):c.1640+33A>C	BDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683303	NM_018429.3(BDP1):c.1640+66del	BDP1	Deletion (intron variant)	not provided	GLikely benign
Select item 1257041	NM_018429.3(BDP1):c.1641-218G>A	BDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290241	NM_018429.3(BDP1):c.1641-67T>A	BDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238190	NM_018429.3(BDP1):c.1641-3dup	BDP1	Duplication (intron variant)	not provided	GBenign
Select item 681819	NM_018429.3(BDP1):c.1689C>T (p.Ser563=)	BDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 680213	NM_018429.3(BDP1):c.1746T>C (p.Asn582=)	BDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1247099	NM_018429.3(BDP1):c.1799+30A>G	BDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683195	NM_018429.3(BDP1):c.1956+60G>A	BDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316192	NM_018429.3(BDP1):c.1957-133C>T	BDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317940	NM_018429.3(BDP1):c.1957-34dup	BDP1	Duplication (intron variant)	not provided	GLikely benign
Select item 680005	NM_018429.3(BDP1):c.1957-4A>G	BDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316706	NM_018429.3(BDP1):c.2030A>G (p.Glu677Gly)	BDP1 (E677G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1265416	NM_018429.3(BDP1):c.2048+19G>C	BDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316019	NM_018429.3(BDP1):c.2048+39_2048+40dup	BDP1	Duplication (intron variant)	not provided	GLikely benign
Select item 1250284	NM_018429.3(BDP1):c.2048+40dup	BDP1	Duplication (intron variant)	not provided	GBenign
Select item 1291927	NM_018429.3(BDP1):c.2048+39_2048+40del	BDP1	Deletion (intron variant)	not provided	GBenign
Select item 1284052	NM_018429.3(BDP1):c.2048+38_2048+40del	BDP1	Deletion (intron variant)	not provided	GBenign
Select item 1246974	NM_018429.3(BDP1):c.2048+40del	BDP1	Deletion (intron variant)	not provided	GBenign
Select item 1255145	NM_018429.3(BDP1):c.2049-285G>A	BDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233465	NM_018429.3(BDP1):c.2049-178G>A	BDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182527	NM_018429.3(BDP1):c.2049-144C>T	BDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260801	NM_018429.3(BDP1):c.2148T>A (p.Gly716=)	BDP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 508134	NM_018429.3(BDP1):c.2164A>G (p.Lys722Glu)	BDP1 (K722E)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 509130	NM_018429.3(BDP1):c.2176A>T (p.Ile726Leu)	BDP1 (I726L)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 513992	NM_018429.3(BDP1):c.2190A>G (p.Glu730=)	BDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 804558	NM_018429.3(BDP1):c.2210A>G (p.Lys737Arg)	BDP1 (K737R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1258250	NM_018429.3(BDP1):c.2241+32G>T	BDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318174	NM_018429.3(BDP1):c.2241+291dup	BDP1	Duplication (intron variant)	not provided	GLikely benign
Select item 1316655	NM_018429.3(BDP1):c.2241+273C>A	BDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270118	NM_018429.3(BDP1):c.2241+273C>G	BDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316812	NM_018429.3(BDP1):c.2241+291del	BDP1	Deletion (intron variant)	not provided	GLikely benign
Select item 1239497	NM_018429.3(BDP1):c.2241+288A>T	BDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263474	NM_018429.3(BDP1):c.2242-169A>T	BDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317862	NM_018429.3(BDP1):c.2268G>A (p.Ser756=)	BDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 517819	NM_018429.3(BDP1):c.2269C>T (p.Arg757Cys)	BDP1 (R757C)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1318056	NM_018429.3(BDP1):c.2270G>A (p.Arg757His)	BDP1 (R757H)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 508085	NM_018429.3(BDP1):c.2332G>A (p.Val778Met)	BDP1 (V778M)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1287035	NM_018429.3(BDP1):c.2373-112T>C	BDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180999	NM_018429.3(BDP1):c.2373-23T>C	BDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296662	NM_018429.3(BDP1):c.2373-22G>T	BDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266701	NM_018429.3(BDP1):c.2373-15del	BDP1	Deletion (intron variant)	not provided	GBenign
Select item 1258520	NM_018429.3(BDP1):c.2373-15C>T	BDP1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1222157	NM_018429.3(BDP1):c.2373-5del	BDP1	Deletion (intron variant)	not provided	GBenign
Select item 1278987	NM_018429.3(BDP1):c.2510T>G (p.Ile837Ser)	BDP1 (I837S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1316117	NM_018429.3(BDP1):c.2535A>G (p.Ala845=)	BDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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