14304[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147860	GRCh38/hg38 17q12(chr17:35129859-35767049)x3	AP2B1, C17orf50 +46 more	Copy number gain	See cases	GUncertain significance
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 2521083	NM_001267052.2(UNC45B):c.44G>A (p.Arg15Gln)	UNC45B (R15Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2352472	NM_001267052.2(UNC45B):c.71C>T (p.Ala24Val)	UNC45B (A24V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2441785	NM_001267052.2(UNC45B):c.73G>A (p.Ala25Thr)	UNC45B (A25T)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 11	GUncertain significance
Select item 2366917	NM_001267052.2(UNC45B):c.85T>G (p.Tyr29Asp)	UNC45B (Y29D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3030314	NM_001267052.2(UNC45B):c.96C>A (p.Ala32=)	UNC45B	Single nucleotide variant (synonymous variant)	UNC45B-related disorder	GLikely benign
Select item 2065709	NM_001267052.2(UNC45B):c.97C>T (p.Leu33=)	UNC45B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2647662	NM_001267052.2(UNC45B):c.113A>G (p.Asp38Gly)	UNC45B (D38G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2470251	NM_001267052.2(UNC45B):c.119C>A (p.Ala40Asp)	UNC45B (A40D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 783779	NM_001267052.2(UNC45B):c.144C>T (p.Asn48=)	UNC45B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2313714	NM_001267052.2(UNC45B):c.145C>T (p.Arg49Trp)	UNC45B (R49W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455056	NM_001267052.2(UNC45B):c.146G>A (p.Arg49Gln)	UNC45B (R49Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1979249	NM_001267052.2(UNC45B):c.149C>A (p.Ala50Glu)	UNC45B (A50E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2360884	NM_001267052.2(UNC45B):c.167C>T (p.Thr56Met)	UNC45B (T56M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 2751952	NM_001267052.2(UNC45B):c.177C>T (p.Tyr59=)	UNC45B	Single nucleotide variant (synonymous 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 3053744	NM_001267052.2(UNC45B):c.210C>A (p.Ile70=)	UNC45B	Single nucleotide variant (synonymous variant)	UNC45B-related disorder	GLikely benign
Select item 3186558	NM_001267052.2(UNC45B):c.212A>G (p.Asp71Gly)	UNC45B (D71G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3040504	NM_001267052.2(UNC45B):c.226G>A (p.Asp76Asn)	UNC45B (D76N)	Single nucleotide variant (missense variant)	UNC45B-related disorder	GLikely benign
Select item 2560308	NM_001267052.2(UNC45B):c.248G>A (p.Arg83Gln)	UNC45B (R83Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3352086	NM_001267052.2(UNC45B):c.251G>T (p.Cys84Phe)	UNC45B (C84F)	Single nucleotide variant (missense variant)	UNC45B-related disorder	GUncertain significance
Select item 2050393	NM_001267052.2(UNC45B):c.297C>T (p.Asp99=)	UNC45B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1506752	NM_001267052.2(UNC45B):c.298G>A (p.Val100Met)	UNC45B (V100M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3331042	NM_001267052.2(UNC45B):c.305G>A (p.Arg102His)	UNC45B (R102H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 750753	NM_001267052.2(UNC45B):c.318C>T (p.Leu106=)	UNC45B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3186564	NM_001267052.2(UNC45B):c.339C>A (p.Phe113Leu)	UNC45B (F113L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 677214	NM_001267052.2(UNC45B):c.381G>A (p.Lys127=)	UNC45B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1578982	NM_001267052.2(UNC45B):c.381+17C>T	UNC45B	Single nucleotide variant (intron 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 2289287	NM_001267052.2(UNC45B):c.440A>G (p.Asp147Gly)	UNC45B (D147G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598547	NM_001267052.2(UNC45B):c.461A>T (p.Lys154Met)	UNC45B (K154M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1585357	NM_001267052.2(UNC45B):c.471+16_471+29del	UNC45B	Deletion (intron variant)	not provided	GBenign
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 3186566	NM_001267052.2(UNC45B):c.478A>C (p.Asn160His)	UNC45B (N160H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228887	NM_001267052.2(UNC45B):c.499C>T (p.Arg167Cys)	UNC45B (R167C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315736	NM_001267052.2(UNC45B):c.500G>T (p.Arg167Leu)	UNC45B (R167L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2888386	NM_001267052.2(UNC45B):c.535A>G (p.Asn179Asp)	UNC45B (N179D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2304172	NM_001267052.2(UNC45B):c.537T>A (p.Asn179Lys)	UNC45B (N179K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2032722	NM_001267052.2(UNC45B):c.550C>T (p.Leu184=)	UNC45B	Single nucleotide variant (synonymous 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 2610979	NM_001267052.2(UNC45B):c.611C>T (p.Ser204Leu)	UNC45B (S204L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2566572	NM_001267052.2(UNC45B):c.625G>A (p.Gly209Ser)	UNC45B (G209S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2456081	NM_001267052.2(UNC45B):c.650T>A (p.Ile217Asn)	UNC45B (I217N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2808694	NM_001267052.2(UNC45B):c.684C>T (p.Ser228=)	UNC45B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2233236	NM_001267052.2(UNC45B):c.690G>A (p.Met230Ile)	UNC45B (M230I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3331032	NM_001267052.2(UNC45B):c.694G>A (p.Val232Met)	UNC45B (V232M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461523	NM_001267052.2(UNC45B):c.712T>A (p.Ser238Thr)	UNC45B (S238T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2438484	NM_001267052.2(UNC45B):c.755T>C (p.Leu252Ser)	UNC45B (L252S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2717410	NM_001267052.2(UNC45B):c.765G>A (p.Glu255=)	UNC45B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3186567	NM_001267052.2(UNC45B):c.800T>C (p.Leu267Pro)	UNC45B (L267P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1301823	NM_001267052.2(UNC45B):c.808+4G>C	UNC45B	Single nucleotide variant (intron variant)	not specified +1 more	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 1989992	NM_001267052.2(UNC45B):c.809-20C>T	UNC45B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3186568	NM_001267052.2(UNC45B):c.856C>G (p.Leu286Val)	UNC45B (L286V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553558	NM_001267052.2(UNC45B):c.862A>C (p.Ser288Arg)	UNC45B (S288R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2191435	NM_001267052.2(UNC45B):c.934C>T (p.Leu312Phe)	UNC45B (L312F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2618340	NM_001267052.2(UNC45B):c.937G>A (p.Ala313Thr)	UNC45B (A313T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3331033	NM_001267052.2(UNC45B):c.955C>T (p.Arg319Cys)	UNC45B (R319C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2891767	NM_001267052.2(UNC45B):c.963C>A (p.Ile321=)	UNC45B	Single nucleotide variant (synonymous 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 2629841	NM_001267052.2(UNC45B):c.992T>A (p.Ile331Asn)	UNC45B (I331N)	Single nucleotide variant (missense variant)	UNC45B-related disorder	GUncertain significance
Select item 2473387	NM_001267052.2(UNC45B):c.1004T>A (p.Val335Glu)	UNC45B (V335E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 715693	NM_001267052.2(UNC45B):c.1035G>A (p.Leu345=)	UNC45B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3186550	NM_001267052.2(UNC45B):c.1072C>T (p.Leu358Phe)	UNC45B (L358F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3357252	NM_001267052.2(UNC45B):c.1110G>A (p.Pro370=)	UNC45B	Single nucleotide variant (synonymous variant)	UNC45B-related disorder	GLikely benign
Select item 2342190	NM_001267052.2(UNC45B):c.1117G>A (p.Asp373Asn)	UNC45B (D373N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2071213	NM_001267052.2(UNC45B):c.1122C>G (p.His374Gln)	UNC45B (H374Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2461191	NM_001267052.2(UNC45B):c.1127G>A (p.Arg376His)	UNC45B (R376H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2438483	NM_001267052.2(UNC45B):c.1151C>T (p.Thr384Met)	UNC45B (T384M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1383413	NM_001267052.2(UNC45B):c.1151+4A>G	UNC45B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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

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