BAZ1B[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2465609	NM_032408.4(BAZ1B):c.4432G>A (p.Gly1478Arg)	BAZ1B (G1478R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 752384	NM_032408.4(BAZ1B):c.4428C>T (p.Ser1476=)	BAZ1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2494477	NM_032408.4(BAZ1B):c.4402A>G (p.Ser1468Gly)	BAZ1B (S1468G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788296	NM_032408.4(BAZ1B):c.4344A>G (p.Pro1448=)	BAZ1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 708480	NM_032408.4(BAZ1B):c.4302G>A (p.Gln1434=)	BAZ1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 715956	NM_032408.4(BAZ1B):c.4293G>A (p.Lys1431=)	BAZ1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2601977	NM_032408.4(BAZ1B):c.4181C>T (p.Ser1394Phe)	BAZ1B (S1394F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2630459	NM_032408.4(BAZ1B):c.4144C>T (p.His1382Tyr)	BAZ1B (H1382Y)	Single nucleotide variant (missense variant)	BAZ1B-related disorder	GUncertain significance
Select item 2283837	NM_032408.4(BAZ1B):c.4142C>T (p.Thr1381Met)	BAZ1B (T1381M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 744430	NM_032408.4(BAZ1B):c.4094+7G>C	BAZ1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 719235	NM_032408.4(BAZ1B):c.4065C>T (p.Ile1355=)	BAZ1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3133058	NM_032408.4(BAZ1B):c.4037A>G (p.Gln1346Arg)	BAZ1B (Q1346R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657552	NM_032408.4(BAZ1B):c.4035G>A (p.Leu1345=)	BAZ1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 715404	NM_032408.4(BAZ1B):c.4019G>A (p.Arg1340Lys)	BAZ1B (R1340K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 724539	NM_032408.4(BAZ1B):c.3993G>A (p.Val1331=)	BAZ1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 737208	NM_032408.4(BAZ1B):c.3991-9T>G	BAZ1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2291933	NM_032408.4(BAZ1B):c.3964G>A (p.Val1322Met)	BAZ1B (V1322M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260478	NM_032408.4(BAZ1B):c.3958C>T (p.Pro1320Ser)	BAZ1B (P1320S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484623	NM_032408.4(BAZ1B):c.3955G>A (p.Ala1319Thr)	BAZ1B (A1319T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657553	NM_032408.4(BAZ1B):c.3936C>T (p.Thr1312=)	BAZ1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2395205	NM_032408.4(BAZ1B):c.3910C>T (p.Arg1304Cys)	BAZ1B (R1304C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553967	NM_032408.4(BAZ1B):c.3904G>T (p.Gly1302Cys)	BAZ1B (G1302C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209028	NM_032408.4(BAZ1B):c.3904G>C (p.Gly1302Arg)	BAZ1B (G1302R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316554	NM_032408.4(BAZ1B):c.3886C>T (p.Pro1296Ser)	BAZ1B (P1296S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133056	NM_032408.4(BAZ1B):c.3727A>G (p.Arg1243Gly)	BAZ1B (R1243G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355052	NM_032408.4(BAZ1B):c.3721C>T (p.Arg1241Cys)	BAZ1B (R1241C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472501	NM_032408.4(BAZ1B):c.3713G>A (p.Arg1238His)	BAZ1B (R1238H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133055	NM_032408.4(BAZ1B):c.3661G>A (p.Val1221Ile)	BAZ1B (V1221I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770739	NM_032408.4(BAZ1B):c.3581-6C>T	BAZ1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3029920	NM_032408.4(BAZ1B):c.3571C>T (p.Arg1191Ter)	BAZ1B (R1191*)	Single nucleotide variant (nonsense)	BAZ1B-related disorder	GUncertain significance
Select item 2632356	NM_032408.4(BAZ1B):c.3570T>A (p.Cys1190Ter)	BAZ1B (C1190*)	Single nucleotide variant (nonsense)	BAZ1B-related disorder	GUncertain significance
Select item 3260479	NM_032408.4(BAZ1B):c.3544G>A (p.Ala1182Thr)	BAZ1B (A1182T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133054	NM_032408.4(BAZ1B):c.3442G>T (p.Ala1148Ser)	BAZ1B (A1148S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735284	NM_032408.4(BAZ1B):c.3426A>G (p.Glu1142=)	BAZ1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2379970	NM_032408.4(BAZ1B):c.3398T>C (p.Val1133Ala)	BAZ1B (V1133A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405987	NM_032408.4(BAZ1B):c.3388A>T (p.Thr1130Ser)	BAZ1B (T1130S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260487	NM_032408.4(BAZ1B):c.3379T>G (p.Ser1127Ala)	BAZ1B (S1127A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133053	NM_032408.4(BAZ1B):c.3362A>G (p.Lys1121Arg)	BAZ1B (K1121R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516420	NM_032408.4(BAZ1B):c.3359G>A (p.Arg1120Lys)	BAZ1B (R1120K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730483	NM_032408.4(BAZ1B):c.3327C>T (p.Leu1109=)	BAZ1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3133052	NM_032408.4(BAZ1B):c.3244G>T (p.Ala1082Ser)	BAZ1B (A1082S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038157	NM_032408.4(BAZ1B):c.3216A>G (p.Gly1072=)	BAZ1B	Single nucleotide variant (synonymous variant)	BAZ1B-related disorder	GUncertain significance
Select item 2283739	NM_032408.4(BAZ1B):c.3082A>G (p.Ile1028Val)	BAZ1B (I1028V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3341873	NM_032408.4(BAZ1B):c.3075C>T (p.Tyr1025=)	BAZ1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 736683	NM_032408.4(BAZ1B):c.3071+8G>A	BAZ1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 440997	NM_032408.4(BAZ1B):c.3071+1G>T	BAZ1B	Single nucleotide variant (splice donor variant)	not provided	Gnot provided
Select item 3133051	NM_032408.4(BAZ1B):c.3026C>T (p.Pro1009Leu)	BAZ1B (P1009L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133050	NM_032408.4(BAZ1B):c.3009G>C (p.Leu1003Phe)	BAZ1B (L1003F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321973	NM_032408.4(BAZ1B):c.2948C>T (p.Thr983Ile)	BAZ1B (T983I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3133049	NM_032408.4(BAZ1B):c.2947A>G (p.Thr983Ala)	BAZ1B (T983A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133048	NM_032408.4(BAZ1B):c.2924C>T (p.Thr975Ile)	BAZ1B (T975I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350297	NM_032408.4(BAZ1B):c.2904C>A (p.Asn968Lys)	BAZ1B (N968K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459727	NM_032408.4(BAZ1B):c.2903A>G (p.Asn968Ser)	BAZ1B (N968S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260484	NM_032408.4(BAZ1B):c.2894C>G (p.Ala965Gly)	BAZ1B (A965G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133047	NM_032408.4(BAZ1B):c.2892T>G (p.Asn964Lys)	BAZ1B (N964K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536864	NM_032408.4(BAZ1B):c.2868T>G (p.Ser956Arg)	BAZ1B (S956R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393778	NM_032408.4(BAZ1B):c.2843G>T (p.Gly948Val)	BAZ1B (G948V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133046	NM_032408.4(BAZ1B):c.2829C>G (p.Asp943Glu)	BAZ1B (D943E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708717	NM_032408.4(BAZ1B):c.2815C>T (p.His939Tyr)	BAZ1B (H939Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2264588	NM_032408.4(BAZ1B):c.2806C>G (p.Arg936Gly)	BAZ1B (R936G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133045	NM_032408.4(BAZ1B):c.2804A>G (p.Tyr935Cys)	BAZ1B (Y935C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 750026	NM_032408.4(BAZ1B):c.2760A>G (p.Pro920=)	BAZ1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2555939	NM_032408.4(BAZ1B):c.2750A>G (p.Asp917Gly)	BAZ1B (D917G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260485	NM_032408.4(BAZ1B):c.2552A>G (p.Gln851Arg)	BAZ1B (Q851R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233461	NM_032408.4(BAZ1B):c.2471T>A (p.Ile824Asn)	BAZ1B (I824N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 736325	NM_032408.4(BAZ1B):c.2286G>C (p.Val762=)	BAZ1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 786901	NM_032408.4(BAZ1B):c.2223G>A (p.Thr741=)	BAZ1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2228250	NM_032408.4(BAZ1B):c.2222C>T (p.Thr741Met)	BAZ1B (T741M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717879	NM_032408.4(BAZ1B):c.2202C>T (p.Thr734=)	BAZ1B	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2397599	NM_032408.4(BAZ1B):c.2178T>A (p.Asp726Glu)	BAZ1B (D726E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 959746	NM_032408.4(BAZ1B):c.2160G>C (p.Glu720Asp)	BAZ1B (E720D)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2314548	NM_032408.4(BAZ1B):c.2137A>G (p.Asn713Asp)	BAZ1B (N713D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233905	NM_032408.4(BAZ1B):c.2134G>A (p.Asp712Asn)	BAZ1B (D712N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067382	NM_032408.4(BAZ1B):c.2079G>A (p.Arg693=)	BAZ1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1278636	NM_032408.4(BAZ1B):c.2037G>A (p.Ser679=)	BAZ1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 754494	NM_032408.4(BAZ1B):c.1992A>G (p.Gln664=)	BAZ1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2472613	NM_032408.4(BAZ1B):c.1961T>C (p.Val654Ala)	BAZ1B (V654A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 737426	NM_032408.4(BAZ1B):c.1944T>C (p.Phe648=)	BAZ1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734001	NM_032408.4(BAZ1B):c.1908C>A (p.Ser636=)	BAZ1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 720471	NM_032408.4(BAZ1B):c.1848C>T (p.Phe616=)	BAZ1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 792881	NM_032408.4(BAZ1B):c.1815G>A (p.Thr605=)	BAZ1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3133044	NM_032408.4(BAZ1B):c.1733A>G (p.Lys578Arg)	BAZ1B (K578R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 761465	NM_032408.4(BAZ1B):c.1554G>A (p.Leu518=)	BAZ1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 717925	NM_032408.4(BAZ1B):c.1365G>T (p.Arg455=)	BAZ1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3133043	NM_032408.4(BAZ1B):c.1351A>T (p.Thr451Ser)	BAZ1B (T451S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3347359	NM_032408.4(BAZ1B):c.1314dup (p.Thr439fs)	BAZ1B (T439fs)	Duplication (frameshift variant)	BAZ1B-related disorder	GUncertain significance
Select item 725032	NM_032408.4(BAZ1B):c.1274A>G (p.Lys425Arg)	BAZ1B (K425R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3133042	NM_032408.4(BAZ1B):c.1270C>T (p.Pro424Ser)	BAZ1B (P424S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133041	NM_032408.4(BAZ1B):c.1190A>T (p.His397Leu)	BAZ1B (H397L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133040	NM_032408.4(BAZ1B):c.1171G>A (p.Ala391Thr)	BAZ1B (A391T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133039	NM_032408.4(BAZ1B):c.1156A>G (p.Lys386Glu)	BAZ1B (K386E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530158	NM_032408.4(BAZ1B):c.1105A>G (p.Met369Val)	BAZ1B (M369V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2528227	NM_032408.4(BAZ1B):c.1102G>A (p.Glu368Lys)	BAZ1B (E368K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260481	NM_032408.4(BAZ1B):c.1079A>G (p.Lys360Arg)	BAZ1B (K360R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724473	NM_032408.4(BAZ1B):c.1023C>T (p.His341=)	BAZ1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2600606	NM_032408.4(BAZ1B):c.1003A>C (p.Lys335Gln)	BAZ1B (K335Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612148	NM_032408.4(BAZ1B):c.1001C>T (p.Pro334Leu)	BAZ1B (P334L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254913	NM_032408.4(BAZ1B):c.999T>G (p.Asn333Lys)	BAZ1B (N333K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622367	NM_032408.4(BAZ1B):c.973A>G (p.Asn325Asp)	BAZ1B (N325D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456637	NM_032408.4(BAZ1B):c.941A>C (p.Asp314Ala)	BAZ1B (D314A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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