BAZ2A[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 1707467	Single allele	ANKRD52, APOF +124 more	Duplication	not specified	GUncertain significance
Select item 2553523	NM_001300905.2(BAZ2A):c.5705A>G (p.Asn1902Ser)	BAZ2A (N1904S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238371	NM_001300905.2(BAZ2A):c.5702C>G (p.Ala1901Gly)	BAZ2A (A1903G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133080	NM_001300905.2(BAZ2A):c.5671C>T (p.Arg1891Cys)	BAZ2A (R1861C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244847	NM_001300905.2(BAZ2A):c.5654G>A (p.Arg1885His)	BAZ2A (R1885H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643098	NM_001300905.2(BAZ2A):c.5613C>T (p.Asn1871=)	BAZ2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2325506	NM_001300905.2(BAZ2A):c.5494A>C (p.Ile1832Leu)	BAZ2A (I1834L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257929	NM_001300905.2(BAZ2A):c.5491A>G (p.Ile1831Val)	BAZ2A (I1831V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509801	NM_001300905.2(BAZ2A):c.5452G>C (p.Glu1818Gln)	BAZ2A (E1818Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621536	NM_001300905.2(BAZ2A):c.5366C>T (p.Ser1789Phe)	BAZ2A (S1759F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526339	NM_001300905.2(BAZ2A):c.5332G>A (p.Glu1778Lys)	BAZ2A (E1778K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133078	NM_001300905.2(BAZ2A):c.5327C>T (p.Ser1776Leu)	BAZ2A (S1776L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133077	NM_001300905.2(BAZ2A):c.5275C>T (p.Arg1759Cys)	BAZ2A (R1761C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455383	NM_001300905.2(BAZ2A):c.5269C>T (p.Arg1757Cys)	BAZ2A (R1727C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317177	NM_001300905.2(BAZ2A):c.5210C>G (p.Pro1737Arg)	BAZ2A (P1737R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1701740	NM_001300905.2(BAZ2A):c.5041dup (p.Arg1681fs)	BAZ2A (R1651fs +2 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2271014	NM_001300905.2(BAZ2A):c.5019C>G (p.Asn1673Lys)	BAZ2A (N1675K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376404	NM_001300905.2(BAZ2A):c.4975C>G (p.Leu1659Val)	BAZ2A (L1629V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265696	NM_001300905.2(BAZ2A):c.4939G>A (p.Glu1647Lys)	BAZ2A (E1617K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485285	NM_001300905.2(BAZ2A):c.4915A>G (p.Ile1639Val)	BAZ2A (I1641V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2494341	NM_001300905.2(BAZ2A):c.4898A>G (p.Tyr1633Cys)	BAZ2A (Y1635C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365150	NM_001300905.2(BAZ2A):c.4853G>A (p.Ser1618Asn)	BAZ2A (S1588N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302623	NM_001300905.2(BAZ2A):c.4802G>A (p.Arg1601Gln)	BAZ2A (R1571Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294878	NM_001300905.2(BAZ2A):c.4724G>A (p.Arg1575His)	BAZ2A (R1545H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133076	NM_001300905.2(BAZ2A):c.4696C>T (p.Arg1566Trp)	BAZ2A (R1566W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287101	NM_001300905.2(BAZ2A):c.4600C>T (p.Arg1534Trp)	BAZ2A (R1536W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133075	NM_001300905.2(BAZ2A):c.4570C>A (p.Gln1524Lys)	BAZ2A (Q1524K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133074	NM_001300905.2(BAZ2A):c.4492G>T (p.Gly1498Trp)	BAZ2A (G1468W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260501	NM_001300905.2(BAZ2A):c.4458C>G (p.Ile1486Met)	BAZ2A (I1488M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412547	NM_001300905.2(BAZ2A):c.4403A>G (p.Asn1468Ser)	BAZ2A (N1468S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3133073	NM_001300905.2(BAZ2A):c.4367G>A (p.Arg1456Gln)	BAZ2A (R1426Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260489	NM_001300905.2(BAZ2A):c.4325A>T (p.Asp1442Val)	BAZ2A (D1412V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260488	NM_001300905.2(BAZ2A):c.4256G>A (p.Arg1419His)	BAZ2A (R1419H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536242	NM_001300905.2(BAZ2A):c.4242A>T (p.Lys1414Asn)	BAZ2A (K1414N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133072	NM_001300905.2(BAZ2A):c.4178C>T (p.Pro1393Leu)	BAZ2A (P1363L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316220	NM_001300905.2(BAZ2A):c.4154G>T (p.Arg1385Leu)	BAZ2A (R1355L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604479	NM_001300905.2(BAZ2A):c.4100G>T (p.Cys1367Phe)	BAZ2A (C1337F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341582	NM_001300905.2(BAZ2A):c.4084A>C (p.Ser1362Arg)	BAZ2A (S1332R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377266	NM_001300905.2(BAZ2A):c.4055T>C (p.Leu1352Pro)	BAZ2A (L1352P +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3133070	NM_001300905.2(BAZ2A):c.4045C>T (p.Pro1349Ser)	BAZ2A (P1319S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643099	NM_001300905.2(BAZ2A):c.4008G>A (p.Pro1336=)	BAZ2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3260499	NM_001300905.2(BAZ2A):c.3992A>G (p.Asn1331Ser)	BAZ2A (N1331S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266594	NM_001300905.2(BAZ2A):c.3949C>G (p.Pro1317Ala)	BAZ2A (P1287A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260500	NM_001300905.2(BAZ2A):c.3766G>A (p.Gly1256Ser)	BAZ2A (G1256S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408131	NM_001300905.2(BAZ2A):c.3754C>G (p.Pro1252Ala)	BAZ2A (P1252A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616552	NM_001300905.2(BAZ2A):c.3737T>C (p.Leu1246Pro)	BAZ2A (L1248P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260498	NM_001300905.2(BAZ2A):c.3668C>T (p.Ala1223Val)	BAZ2A (A1225V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620115	NM_001300905.2(BAZ2A):c.3626G>A (p.Gly1209Asp)	BAZ2A (G1209D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317256	NM_001300905.2(BAZ2A):c.3511A>G (p.Met1171Val)	BAZ2A (M1171V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386737	NM_001300905.2(BAZ2A):c.3505A>G (p.Met1169Val)	BAZ2A (M1139V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2553817	NM_001300905.2(BAZ2A):c.3503C>T (p.Ser1168Phe)	BAZ2A (S1168F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260497	NM_001300905.2(BAZ2A):c.3383A>G (p.Tyr1128Cys)	BAZ2A (Y1128C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593275	NM_001300905.2(BAZ2A):c.3365G>A (p.Arg1122His)	BAZ2A (R1124H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133069	NM_001300905.2(BAZ2A):c.3328C>T (p.Arg1110Trp)	BAZ2A (R1112W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260070	NM_001300905.2(BAZ2A):c.3286C>G (p.Leu1096Val)	BAZ2A (L1096V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284331	NM_001300905.2(BAZ2A):c.3257G>A (p.Arg1086His)	BAZ2A (R1086H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249041	NM_001300905.2(BAZ2A):c.3217G>A (p.Glu1073Lys)	BAZ2A (E1043K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285100	NM_001300905.2(BAZ2A):c.3152T>C (p.Met1051Thr)	BAZ2A (M1021T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613518	NM_001300905.2(BAZ2A):c.3149G>C (p.Gly1050Ala)	BAZ2A (G1052A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260496	NM_001300905.2(BAZ2A):c.3134T>C (p.Met1045Thr)	BAZ2A (M1015T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388157	NM_001300905.2(BAZ2A):c.3112C>T (p.Arg1038Trp)	BAZ2A (R1040W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260888	NM_001300905.2(BAZ2A):c.2990T>C (p.Met997Thr)	BAZ2A (M967T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316064	NM_001300905.2(BAZ2A):c.2986A>G (p.Ser996Gly)	BAZ2A (S996G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558427	NM_001300905.2(BAZ2A):c.2902C>A (p.Gln968Lys)	BAZ2A (Q968K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133068	NM_001300905.2(BAZ2A):c.2626A>G (p.Ser876Gly)	BAZ2A (S878G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133067	NM_001300905.2(BAZ2A):c.2588G>A (p.Gly863Asp)	BAZ2A (G865D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250384	NM_001300905.2(BAZ2A):c.2422C>T (p.Arg808Trp)	BAZ2A (R808W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303635	NM_001300905.2(BAZ2A):c.2401A>G (p.Thr801Ala)	BAZ2A (T801A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279865	NM_001300905.2(BAZ2A):c.2355G>C (p.Glu785Asp)	BAZ2A (E755D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260491	NM_001300905.2(BAZ2A):c.2345A>G (p.Glu782Gly)	BAZ2A (E752G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260494	NM_001300905.2(BAZ2A):c.2246A>G (p.Lys749Arg)	BAZ2A (K719R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405554	NM_001300905.2(BAZ2A):c.2206C>G (p.Arg736Gly)	BAZ2A (R706G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224232	NM_001300905.2(BAZ2A):c.2065C>T (p.Arg689Cys)	BAZ2A (R691C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599170	NM_001300905.2(BAZ2A):c.2063A>G (p.Asn688Ser)	BAZ2A (N658S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339230	NM_001300905.2(BAZ2A):c.1997A>G (p.Lys666Arg)	BAZ2A (K668R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410045	NM_001300905.2(BAZ2A):c.1898A>C (p.Gln633Pro)	BAZ2A (Q633P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528228	NM_001300905.2(BAZ2A):c.1895T>C (p.Val632Ala)	BAZ2A (V602A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133065	NM_001300905.2(BAZ2A):c.1854T>G (p.Asp618Glu)	BAZ2A (D620E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133064	NM_001300905.2(BAZ2A):c.1810C>T (p.Arg604Cys)	BAZ2A (R604C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260493	NM_001300905.2(BAZ2A):c.1795G>A (p.Val599Met)	BAZ2A (V599M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133063	NM_001300905.2(BAZ2A):c.1795G>C (p.Val599Leu)	BAZ2A (V599L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643100	NM_001300905.2(BAZ2A):c.1725C>T (p.Thr575=)	BAZ2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2289484	NM_001300905.2(BAZ2A):c.1699G>A (p.Gly567Ser)	BAZ2A (G537S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346036	NM_001300905.2(BAZ2A):c.1694A>G (p.Lys565Arg)	BAZ2A (K565R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248254	NM_001300905.2(BAZ2A):c.1688G>A (p.Arg563His)	BAZ2A (R533H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480573	NM_001300905.2(BAZ2A):c.1610G>A (p.Gly537Asp)	BAZ2A (G537D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133061	NM_001300905.2(BAZ2A):c.1558A>C (p.Thr520Pro)	BAZ2A (T520P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477499	NM_001300905.2(BAZ2A):c.1499C>A (p.Ala500Glu)	BAZ2A (A502E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268231	NM_001300905.2(BAZ2A):c.1454C>T (p.Thr485Met)	BAZ2A (T485M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133060	NM_001300905.2(BAZ2A):c.1405C>G (p.Pro469Ala)	BAZ2A (P471A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332096	NM_001300905.2(BAZ2A):c.1369A>T (p.Thr457Ser)	BAZ2A (T457S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273401	NM_001300905.2(BAZ2A):c.1360G>A (p.Ala454Thr)	BAZ2A (A424T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260490	NM_001300905.2(BAZ2A):c.1345C>T (p.Pro449Ser)	BAZ2A (P419S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361014	NM_001300905.2(BAZ2A):c.1226C>T (p.Pro409Leu)	BAZ2A (P409L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292147	NM_001300905.2(BAZ2A):c.1058C>T (p.Ala353Val)	BAZ2A (A323V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253465	NM_001300905.2(BAZ2A):c.1043C>G (p.Ala348Gly)	BAZ2A (A318G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133081	NM_001300905.2(BAZ2A):c.871A>G (p.Ile291Val)	BAZ2A (I261V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361316	NM_001300905.2(BAZ2A):c.865A>G (p.Thr289Ala)	BAZ2A (T291A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266043	NM_001300905.2(BAZ2A):c.821G>A (p.Ser274Asn)	BAZ2A (S244N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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