BAZ1A[gene] - ClinVar

Search results

Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	MIR4503, MIR624 +399 more	Copy number loss	See cases	GPathogenic
Select item 146008	GRCh38/hg38 14q12-21.1(chr14:30382554-37712341)x1	AKAP6, AP4S1 +179 more	Copy number loss	See cases	GPathogenic
Select item 58523	GRCh38/hg38 14q12-21.2(chr14:30670314-44990595)x3	INSM2, KLHL28 +237 more	Copy number gain	See cases	GPathogenic
Select item 154996	GRCh38/hg38 14q12-21.2(chr14:30792271-44685131)x1	LOC126861917, LOC126861918 +225 more	Copy number loss	See cases	GPathogenic
Select item 154467	GRCh38/hg38 14q13.1-13.3(chr14:33762166-36191750)x1	BAZ1A, BAZ1A-AS1 +88 more	Copy number loss	See cases	GUncertain significance
Select item 154047	GRCh38/hg38 14q13.1-21.1(chr14:33880412-42359485)x1	BAZ1A, BAZ1A-AS1 +156 more	Copy number loss	See cases	GPathogenic
Select item 153467	GRCh38/hg38 14q13.1(chr14:34548652-34758172)x1	BAZ1A, CFL2 +8 more	Copy number loss	See cases	GUncertain significance
Select item 2644160	NM_013448.3(BAZ1A):c.4540A>G (p.Ser1514Gly)	BAZ1A (S1482G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2277066	NM_013448.3(BAZ1A):c.4531C>G (p.Arg1511Gly)	BAZ1A (R1479G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133033	NM_013448.3(BAZ1A):c.4283G>A (p.Arg1428Gln)	BAZ1A (R1396Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333678	NM_013448.3(BAZ1A):c.4192T>A (p.Ser1398Thr)	BAZ1A (S1398T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133032	NM_013448.3(BAZ1A):c.4111A>G (p.Ser1371Gly)	BAZ1A (S1371G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053995	NM_013448.3(BAZ1A):c.4094ATA[1] (p.Asn1366del)	BAZ1A (N1334del +1 more)	Microsatellite (inframe deletion)	BAZ1A-related disorder	GLikely benign
Select item 2595819	NM_013448.3(BAZ1A):c.4073G>A (p.Arg1358His)	BAZ1A (R1326H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214553	NM_013448.3(BAZ1A):c.4073G>T (p.Arg1358Leu)	BAZ1A (R1326L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488016	NM_013448.3(BAZ1A):c.4006A>G (p.Thr1336Ala)	BAZ1A (T1304A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548752	NM_013448.3(BAZ1A):c.4004C>G (p.Ser1335Cys)	BAZ1A (S1303C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359562	NM_013448.3(BAZ1A):c.3964C>A (p.Pro1322Thr)	BAZ1A (P1290T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133031	NM_013448.3(BAZ1A):c.3854G>A (p.Arg1285His)	BAZ1A (R1253H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216753	NM_013448.3(BAZ1A):c.3695A>T (p.Asp1232Val)	BAZ1A (D1232V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056971	NM_013448.3(BAZ1A):c.3694G>A (p.Asp1232Asn)	BAZ1A (D1200N +1 more)	Single nucleotide variant (missense variant)	BAZ1A-related disorder	GLikely benign
Select item 2267134	NM_013448.3(BAZ1A):c.3643G>T (p.Asp1215Tyr)	BAZ1A (D1215Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270501	NM_013448.3(BAZ1A):c.3523A>G (p.Thr1175Ala)	BAZ1A (T1143A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488142	NM_013448.3(BAZ1A):c.3490G>A (p.Val1164Ile)	BAZ1A (V1132I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306880	NM_013448.3(BAZ1A):c.3319C>T (p.Arg1107Cys)	BAZ1A (R1107C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 264644	NM_013448.3(BAZ1A):c.3278G>A (p.Arg1093Gln)	BAZ1A (R1093Q +1 more)	Single nucleotide variant (missense variant)	VATER/VACTERL association with CNS malformations	GPathogenic
Select item 2275101	NM_013448.3(BAZ1A):c.3140T>C (p.Ile1047Thr)	BAZ1A (I1015T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259913	NM_013448.3(BAZ1A):c.3104T>C (p.Val1035Ala)	BAZ1A (V1035A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783686	NM_013448.3(BAZ1A):c.3051G>A (p.Leu1017=)	BAZ1A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2644161	NM_013448.3(BAZ1A):c.2973C>T (p.Tyr991=)	BAZ1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2352681	NM_013448.3(BAZ1A):c.2885A>G (p.Asn962Ser)	BAZ1A (N930S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3133030	NM_013448.3(BAZ1A):c.2803C>T (p.Arg935Cys)	BAZ1A (R903C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252071	NM_013448.3(BAZ1A):c.2795A>G (p.Gln932Arg)	BAZ1A (Q900R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133029	NM_013448.3(BAZ1A):c.2785A>G (p.Ile929Val)	BAZ1A (I897V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043885	NM_013448.3(BAZ1A):c.2717A>G (p.Glu906Gly)	BAZ1A (E874G +1 more)	Single nucleotide variant (missense variant)	BAZ1A-related disorder	GLikely benign
Select item 2481964	NM_013448.3(BAZ1A):c.2693G>C (p.Cys898Ser)	BAZ1A (C866S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260182	NM_013448.3(BAZ1A):c.2653C>G (p.Pro885Ala)	BAZ1A (P853A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783687	NM_013448.3(BAZ1A):c.2626C>T (p.Arg876Cys)	BAZ1A (R876C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2476498	NM_013448.3(BAZ1A):c.2564T>A (p.Val855Glu)	BAZ1A (V855E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471317	NM_013448.3(BAZ1A):c.2546A>G (p.Gln849Arg)	BAZ1A (Q849R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133028	NM_013448.3(BAZ1A):c.2330C>T (p.Ala777Val)	BAZ1A (A777V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2637042	NM_013448.3(BAZ1A):c.2294T>G (p.Val765Gly)	BAZ1A (V733G +1 more)	Single nucleotide variant (missense variant)	BAZ1A-related disorder	GUncertain significance
Select item 3056341	NM_013448.3(BAZ1A):c.2094G>A (p.Thr698=)	BAZ1A	Single nucleotide variant (synonymous variant)	BAZ1A-related disorder	GLikely benign
Select item 3133027	NM_013448.3(BAZ1A):c.2030A>T (p.Glu677Val)	BAZ1A (E645V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133026	NM_013448.3(BAZ1A):c.1919T>C (p.Ile640Thr)	BAZ1A (I640T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533083	NM_013448.3(BAZ1A):c.1895A>G (p.Asp632Gly)	BAZ1A (D632G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133025	NM_013448.3(BAZ1A):c.1855G>A (p.Ala619Thr)	BAZ1A (A619T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306145	NM_013448.3(BAZ1A):c.1543C>G (p.Pro515Ala)	BAZ1A (P515A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400371	NM_013448.3(BAZ1A):c.1419G>C (p.Leu473Phe)	BAZ1A, LOC129390621 (L473F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319752	NM_013448.3(BAZ1A):c.1193C>T (p.Pro398Leu)	BAZ1A (P398L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206215	NM_013448.3(BAZ1A):c.1010C>T (p.Ala337Val)	BAZ1A (A337V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523914	NM_013448.3(BAZ1A):c.993A>C (p.Lys331Asn)	BAZ1A (K331N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133037	NM_013448.3(BAZ1A):c.838C>T (p.Pro280Ser)	BAZ1A (P280S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208136	NM_013448.3(BAZ1A):c.773A>G (p.Tyr258Cys)	BAZ1A (Y258C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133036	NM_013448.3(BAZ1A):c.743C>A (p.Thr248Lys)	BAZ1A (T248K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325143	NM_013448.3(BAZ1A):c.743C>T (p.Thr248Met)	BAZ1A (T248M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264148	NM_013448.3(BAZ1A):c.731C>T (p.Ser244Leu)	BAZ1A (S244L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133035	NM_013448.3(BAZ1A):c.661C>T (p.Arg221Cys)	BAZ1A (R221C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133034	NM_013448.3(BAZ1A):c.553A>G (p.Ile185Val)	BAZ1A (I185V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2242281	NM_013448.3(BAZ1A):c.540G>T (p.Lys180Asn)	BAZ1A (K180N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263722	NM_013448.3(BAZ1A):c.539A>G (p.Lys180Arg)	BAZ1A (K180R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349532	NM_013448.3(BAZ1A):c.509A>G (p.Glu170Gly)	BAZ1A (E170G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294105	NM_013448.3(BAZ1A):c.298C>T (p.Arg100Cys)	BAZ1A (R100C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319197	NM_013448.3(BAZ1A):c.296C>G (p.Ser99Trp)	BAZ1A (S99W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133024	NM_013448.3(BAZ1A):c.106C>T (p.His36Tyr)	BAZ1A, BAZ1A-AS1 (H36Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2644162	NM_013448.3(BAZ1A):c.93C>T (p.Asn31=)	BAZ1A, BAZ1A-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3133038	NM_013448.3(BAZ1A):c.92A>G (p.Asn31Ser)	BAZ1A, BAZ1A-AS1 (N31S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232296	NM_013448.3(BAZ1A):c.67G>C (p.Glu23Gln)	BAZ1A, BAZ1A-AS1 (E23Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2636418	NM_013448.3(BAZ1A):c.38A>C (p.Lys13Thr)	BAZ1A, BAZ1A-AS1 (K13T)	Single nucleotide variant (missense variant +1 more)	BAZ1A-related disorder	GUncertain significance
Select item 3063339	GRCh37/hg19 14q13.1-13.2(chr14:35059946-35787671)x3	BAZ1A, CFL2 +6 more	Copy number gain	not specified	GUncertain significance
Select item 3063324	GRCh37/hg19 14q12-21.2(chr14:29190489-45325177)x1	AKAP6, AP4S1 +48 more	Copy number loss	not specified	GPathogenic
Select item 2685482	GRCh37/hg19 14q13.1-13.3(chr14:34585231-37477843)x1	FAM177A1, BAZ1A +19 more	Copy number loss	not provided	GPathogenic
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2424631	NC_000014.8:g.(?_35182071)_(35873850_?)del	BAZ1A, CFL2 +6 more	Deletion	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 1879292	GRCh37/hg19 14q13.1-13.3(chr14:34904407-36784136)x1	BAZ1A, BRMS1L +14 more	Copy number loss	not provided	GPathogenic
Select item 1809008	GRCh37/hg19 14q13.1(chr14:35039194-35242186)x3	BAZ1A, CFL2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 1047865	GRCh37/hg19 14q13.1-21.2(chr14:33608925-44570367)	BAZ1A, BRMS1L +33 more	Copy number loss	Poor motor coordination	GPathogenic
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 815637	GRCh37/hg19 14q13.1(chr14:34939747-35257173)x3	SNX6, BAZ1A +2 more	Copy number gain	not provided	GUncertain significance
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 685332	GRCh37/hg19 14q13.1(chr14:35150795-35252969)x3	BAZ1A, CFL2	Copy number gain	not provided	GUncertain significance
Select item 564117	GRCh37/hg19 14q13.1-13.2(chr14:35232984-35652742)x3	SRP54, BAZ1A +3 more	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ERG28, OR11G2 +635 more	Copy number gain	See cases	GPathogenic

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Items: 92