BAZ1A[gene] and "single gene"[properties] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3260474	NM_013448.3(BAZ1A):c.3992T>C (p.Ile1331Thr)	BAZ1A (I1299T +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 3260477	NM_013448.3(BAZ1A):c.2288A>G (p.Asn763Ser)	BAZ1A (N731S +1 more)	Single nucleotide variant (missense variant)	not specified	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 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 3260473	NM_013448.3(BAZ1A):c.941A>C (p.Gln314Pro)	BAZ1A (Q314P)	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 3260475	NM_013448.3(BAZ1A):c.748A>C (p.Lys250Gln)	BAZ1A (K250Q)	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 3260476	NM_013448.3(BAZ1A):c.296C>T (p.Ser99Leu)	BAZ1A (S99L)	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

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Items: 61