55814[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 800723	GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1	LINC02219, LINC02229 +265 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 154034	GRCh38/hg38 5q13.2(chr5:71358232-71562995)x1	BDP1, LINC02197 +2 more	Copy number loss	See cases	GUncertain significance
Select item 3024351	GRCh38/hg38 5q13.2(chr5:71378409-72329454)	BDP1, CARTPT +20 more	Copy number gain	Autism spectrum disorder	GUncertain significance
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 2682886	NM_018429.3(BDP1):c.29A>G (p.Lys10Arg)	BDP1 (K10R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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)	Hearing loss, autosomal recessive 112 +1 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 2226670	NM_018429.3(BDP1):c.188C>T (p.Pro63Leu)	BDP1 (P63L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3133617	NM_018429.3(BDP1):c.215C>T (p.Thr72Ile)	BDP1 (T72I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133620	NM_018429.3(BDP1):c.255T>G (p.Ser85Arg)	BDP1 (S85R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1280314	NM_018429.3(BDP1):c.282A>T (p.Arg94Ser)	BDP1 (R94S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2682887	NM_018429.3(BDP1):c.296C>T (p.Ser99Leu)	BDP1 (S99L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2533141	NM_018429.3(BDP1):c.344C>T (p.Ser115Phe)	BDP1 (S115F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133626	NM_018429.3(BDP1):c.361A>G (p.Ile121Val)	BDP1 (I121V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3133640	NM_018429.3(BDP1):c.625A>T (p.Thr209Ser)	BDP1 (T209S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 512221	NM_018429.3(BDP1):c.638C>T (p.Ser213Leu)	BDP1 (S213L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2299843	NM_018429.3(BDP1):c.646G>T (p.Val216Phe)	BDP1 (V216F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1296657	NM_018429.3(BDP1):c.659+47A>C	BDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3133643	NM_018429.3(BDP1):c.670A>G (p.Lys224Glu)	BDP1 (K224E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361745	NM_018429.3(BDP1):c.675T>G (p.Ser225Arg)	BDP1 (S225R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479090	NM_018429.3(BDP1):c.722G>A (p.Gly241Glu)	BDP1 (G241E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3058688	NM_018429.3(BDP1):c.852G>A (p.Glu284=)	BDP1	Single nucleotide variant (synonymous variant)	BDP1-related disorder	GLikely benign
Select item 3133647	NM_018429.3(BDP1):c.893A>G (p.Tyr298Cys)	BDP1 (Y298C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 804557	NM_018429.3(BDP1):c.1060A>G (p.Lys354Glu)	BDP1 (K354E)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 3133612	NM_018429.3(BDP1):c.1084T>A (p.Phe362Ile)	BDP1 (F362I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133613	NM_018429.3(BDP1):c.1198C>T (p.Arg400Trp)	BDP1 (R400W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2549020	NM_018429.3(BDP1):c.1217A>G (p.Lys406Arg)	BDP1 (K406R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614301	NM_018429.3(BDP1):c.1222G>A (p.Val408Ile)	BDP1 (V408I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 512248	NM_018429.3(BDP1):c.1245T>C (p.Asn415=)	BDP1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2487857	NM_018429.3(BDP1):c.1262T>C (p.Met421Thr)	BDP1 (M421T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2206639	NM_018429.3(BDP1):c.1300G>C (p.Asp434His)	BDP1 (D434H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133615	NM_018429.3(BDP1):c.1318G>C (p.Glu440Gln)	BDP1 (E440Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396459	NM_018429.3(BDP1):c.1340G>A (p.Arg447Lys)	BDP1 (R447K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2408411	NM_018429.3(BDP1):c.1504G>C (p.Ala502Pro)	BDP1 (A502P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 515793	NM_018429.3(BDP1):c.1512G>T (p.Arg504Ser)	BDP1 (R504S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2547414	NM_018429.3(BDP1):c.1576G>A (p.Gly526Ser)	BDP1 (G526S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 812719	NM_018429.3(BDP1):c.1714G>T (p.Val572Phe)	BDP1 (V572F)	Single nucleotide variant (missense variant)	Deafness	GLikely pathogenic
Select item 680213	NM_018429.3(BDP1):c.1746T>C (p.Asn582=)	BDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2335332	NM_018429.3(BDP1):c.1763T>C (p.Ile588Thr)	BDP1 (I588T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1247099	NM_018429.3(BDP1):c.1799+30A>G	BDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2223916	NM_018429.3(BDP1):c.1844G>A (p.Arg615His)	BDP1 (R615H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133616	NM_018429.3(BDP1):c.1873A>G (p.Arg625Gly)	BDP1 (R625G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398010	NM_018429.3(BDP1):c.1882A>G (p.Lys628Glu)	BDP1 (K628E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305431	NM_018429.3(BDP1):c.1939A>G (p.Lys647Glu)	BDP1 (K647E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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

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