"GeneDx"[submitter] AND "UNC45B"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1191774	NM_001267052.2(UNC45B):c.-1+107G>C	UNC45B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214292	NM_001267052.2(UNC45B):c.1-133G>A	UNC45B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 716485	NM_001267052.2(UNC45B):c.30G>A (p.Lys10=)	UNC45B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 783779	NM_001267052.2(UNC45B):c.144C>T (p.Asn48=)	UNC45B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1198100	NM_001267052.2(UNC45B):c.168+161G>A	UNC45B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186504	NM_001267052.2(UNC45B):c.168+194C>T	UNC45B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248888	NM_001267052.2(UNC45B):c.178G>A (p.Val60Ile)	UNC45B (V60I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1195631	NM_001267052.2(UNC45B):c.206-157A>G	UNC45B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677214	NM_001267052.2(UNC45B):c.381G>A (p.Lys127=)	UNC45B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1196203	NM_001267052.2(UNC45B):c.381+241T>C	UNC45B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195742	NM_001267052.2(UNC45B):c.382-137G>A	UNC45B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1185702	NM_001267052.2(UNC45B):c.382-45G>A	UNC45B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199945	NM_001267052.2(UNC45B):c.471+83C>T	UNC45B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1238068	NM_001267052.2(UNC45B):c.472-306A>T	UNC45B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1686678	NM_001267052.2(UNC45B):c.472-206A>C	UNC45B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201262	NM_001267052.2(UNC45B):c.472-43G>A	UNC45B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 787134	NM_001267052.2(UNC45B):c.596C>T (p.Ala199Val)	UNC45B (A199V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1191295	NM_001267052.2(UNC45B):c.640-252G>A	UNC45B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204261	NM_001267052.2(UNC45B):c.640-223G>A	UNC45B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212743	NM_001267052.2(UNC45B):c.640-141G>C	UNC45B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1706925	NM_001267052.2(UNC45B):c.640-84A>G	UNC45B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1244441	NM_001267052.2(UNC45B):c.640-70C>T	UNC45B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220664	NM_001267052.2(UNC45B):c.808+39G>A	UNC45B	Single nucleotide variant (intron variant)	Myofibrillar myopathy 11 +2 more	GBenign
Select item 1280544	NM_001267052.2(UNC45B):c.808+261A>G	UNC45B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270977	NM_001267052.2(UNC45B):c.809-203G>A	UNC45B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197734	NM_001267052.2(UNC45B):c.809-86A>G	UNC45B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203178	NM_001267052.2(UNC45B):c.977A>G (p.Asn326Ser)	UNC45B (N326S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1198328	NM_001267052.2(UNC45B):c.980-305G>A	UNC45B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200860	NM_001267052.2(UNC45B):c.980-297T>C	UNC45B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1224066	NM_001267052.2(UNC45B):c.980-251G>A	UNC45B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218810	NM_001267052.2(UNC45B):c.980-184G>A	UNC45B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269968	NM_001267052.2(UNC45B):c.980-180G>C	UNC45B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266964	NM_001267052.2(UNC45B):c.980-23G>A	UNC45B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 715693	NM_001267052.2(UNC45B):c.1035G>A (p.Leu345=)	UNC45B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777160	NM_001267052.2(UNC45B):c.1099C>T (p.Arg367Cys)	UNC45B (R367C)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 682391	NM_001267052.2(UNC45B):c.1130A>G (p.Lys377Arg)	UNC45B (K377R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1246949	NM_001267052.2(UNC45B):c.1140G>A (p.Glu380=)	UNC45B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1288809	NM_001267052.2(UNC45B):c.1151+158A>G	UNC45B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270574	NM_001267052.2(UNC45B):c.1151+267A>G	UNC45B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190637	NM_001267052.2(UNC45B):c.1151+286G>A	UNC45B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 668201	NM_001267052.2(UNC45B):c.1413G>A (p.Lys471=)	UNC45B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1200718	NM_001267052.2(UNC45B):c.1452+304T>G	UNC45B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1706950	NM_001267052.2(UNC45B):c.1453-173_1453-172del	UNC45B	Deletion (intron variant)	not provided	GLikely benign
Select item 1267970	NM_001267052.2(UNC45B):c.1453-99G>A	UNC45B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 728178	NM_001267052.2(UNC45B):c.1467C>T (p.Leu489=)	UNC45B	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 3378051	NM_001267052.2(UNC45B):c.1468G>A (p.Gly490Ser)	UNC45B (G490S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1202419	NM_001267052.2(UNC45B):c.1547+22G>C	UNC45B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1258022	NM_001267052.2(UNC45B):c.1548-83C>T	UNC45B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 778688	NM_001267052.2(UNC45B):c.1665G>T (p.Leu555=)	UNC45B	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1280140	NM_001267052.2(UNC45B):c.1689+57A>G	UNC45B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174407	NM_001267052.2(UNC45B):c.1689+197G>T	UNC45B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205153	NM_001267052.2(UNC45B):c.1689+227T>A	UNC45B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1321025	NM_001267052.2(UNC45B):c.1690-81C>T	UNC45B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1260761	NM_001267052.2(UNC45B):c.1788C>T (p.Leu596=)	UNC45B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1268557	NM_001267052.2(UNC45B):c.1830+161A>C	UNC45B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279749	NM_001267052.2(UNC45B):c.1830+315C>G	UNC45B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242283	NM_001267052.2(UNC45B):c.1831-282C>T	UNC45B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280444	NM_001267052.2(UNC45B):c.1831-273G>A	UNC45B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276776	NM_001267052.2(UNC45B):c.1831-270T>C	UNC45B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218274	NM_001267052.2(UNC45B):c.1831-229G>T	UNC45B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269995	NM_001267052.2(UNC45B):c.1958+44C>T	UNC45B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194551	NM_001267052.2(UNC45B):c.1958+45G>A	UNC45B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217592	NM_001267052.2(UNC45B):c.1958+187A>C	UNC45B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230220	NM_001267052.2(UNC45B):c.1958+256G>C	UNC45B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229979	NM_001267052.2(UNC45B):c.1959-253A>G	UNC45B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230207	NM_001267052.2(UNC45B):c.1959-109C>T	UNC45B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1707238	NM_001267052.2(UNC45B):c.1959-80G>A	UNC45B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1249886	NM_001267052.2(UNC45B):c.1959-50G>A	UNC45B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214462	NM_001267052.2(UNC45B):c.1974G>A (p.Leu658=)	UNC45B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1243329	NM_001267052.2(UNC45B):c.2025+66T>C	UNC45B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230702	NM_001267052.2(UNC45B):c.2025+288C>T	UNC45B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183075	NM_001267052.2(UNC45B):c.2026-114G>A	UNC45B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247212	NM_001267052.2(UNC45B):c.2139+45T>C	UNC45B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287013	NM_001267052.2(UNC45B):c.2140-49C>T	UNC45B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 781277	NM_001267052.2(UNC45B):c.2189A>C (p.Asp730Ala)	UNC45B (D651A +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1236812	NM_001267052.2(UNC45B):c.2255+87T>C	UNC45B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280972	NM_001267052.2(UNC45B):c.2255+180C>T	UNC45B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229622	NM_001267052.2(UNC45B):c.2255+236del	UNC45B	Deletion (intron variant)	not provided	GBenign
Select item 1262897	NM_001267052.2(UNC45B):c.2256-305GA[19]	UNC45B	Microsatellite (intron variant)	not provided	GBenign
Select item 1251431	NM_001267052.2(UNC45B):c.2256-305GA[23]	UNC45B	Microsatellite (intron variant)	not provided	GBenign
Select item 1244581	NM_001267052.2(UNC45B):c.2256-305GA[21]	UNC45B	Microsatellite (intron variant)	not provided	GBenign
Select item 1226857	NM_001267052.2(UNC45B):c.2256-305GA[20]	UNC45B	Microsatellite (intron variant)	not provided	GBenign
Select item 1289016	NM_001267052.2(UNC45B):c.2256-305GA[14]	UNC45B	Microsatellite (intron variant)	not provided	GBenign
Select item 1706929	NM_001267052.2(UNC45B):c.2256-182T>C	UNC45B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1706934	NM_001267052.2(UNC45B):c.2256-163C>T	UNC45B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1262564	NM_001267052.2(UNC45B):c.2301C>T (p.Tyr767=)	UNC45B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 996754	NM_001267052.2(UNC45B):c.2326C>T (p.Arg776Trp)	UNC45B (R778W +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 11 +1 more	GLikely pathogenic
Select item 1234010	NM_001267052.2(UNC45B):c.2351G>A (p.Cys784Tyr)	UNC45B (C705Y +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1192722	NM_001267052.2(UNC45B):c.2373+29G>A	UNC45B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194729	NM_001267052.2(UNC45B):c.2373+82G>A	UNC45B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1260064	NM_001267052.2(UNC45B):c.2373+233G>A	UNC45B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270212	NM_001267052.2(UNC45B):c.2374-211G>A	UNC45B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247356	NM_001267052.2(UNC45B):c.2374-123G>C	UNC45B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220487	NM_001267052.2(UNC45B):c.2374-42T>C	UNC45B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1241578	NM_001267052.2(UNC45B):c.2529+55A>G	UNC45B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206827	NM_001267052.2(UNC45B):c.2529+227G>A	UNC45B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181479	NM_001267052.2(UNC45B):c.2530-325G>A	UNC45B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227863	NM_001267052.2(UNC45B):c.2530-295A>T	UNC45B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192112	NM_001267052.2(UNC45B):c.2530-137A>G	UNC45B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677287	NM_001267052.2(UNC45B):c.2549T>A (p.Ile850Asn)	UNC45B (I850N +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign

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