8029[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	PROSER2-AS1, PRPF18 +680 more	Copy number loss	See cases	GPathogenic
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 148232	GRCh38/hg38 10p14-12.31(chr10:7428770-21587752)x1	ACBD7, ACBD7-DCLRE1CP1 +388 more	Copy number loss	See cases	GPathogenic
Select item 153711	GRCh38/hg38 10p13(chr10:16711539-17263602)x3	CUBN, LOC111501766 +23 more	Copy number gain	See cases	GUncertain significance
Select item 878187	NM_001081.4(CUBN):c.*940A>G	CUBN	Single nucleotide variant (3 prime UTR variant)	Imerslund-Grasbeck syndrome type 1	GUncertain significance
Select item 299323	NM_001081.4(CUBN):c.*883G>A	CUBN	Single nucleotide variant (3 prime UTR variant)	Imerslund-Grasbeck syndrome type 1	GUncertain significance
Select item 878188	NM_001081.4(CUBN):c.*872T>C	CUBN	Single nucleotide variant (3 prime UTR variant)	Imerslund-Grasbeck syndrome type 1	GBenign
Select item 299324	NM_001081.4(CUBN):c.*794A>G	CUBN	Single nucleotide variant (3 prime UTR variant)	Imerslund-Grasbeck syndrome type 1	GUncertain significance
Select item 299325	NM_001081.4(CUBN):c.*786T>C	CUBN	Single nucleotide variant (3 prime UTR variant)	Imerslund-Grasbeck syndrome type 1	GUncertain significance
Select item 299326	NM_001081.4(CUBN):c.*782G>A	CUBN	Single nucleotide variant (3 prime UTR variant)	Imerslund-Grasbeck syndrome type 1	GUncertain significance
Select item 299327	NM_001081.4(CUBN):c.*781C>T	CUBN	Single nucleotide variant (3 prime UTR variant)	Imerslund-Grasbeck syndrome type 1	GBenign
Select item 878189	NM_001081.4(CUBN):c.*769G>A	CUBN	Single nucleotide variant (3 prime UTR variant)	Imerslund-Grasbeck syndrome type 1	GLikely benign
Select item 299328	NM_001081.4(CUBN):c.*737T>C	CUBN	Single nucleotide variant (3 prime UTR variant)	Imerslund-Grasbeck syndrome type 1	GBenign
Select item 299329	NM_001081.4(CUBN):c.*734A>G	CUBN	Single nucleotide variant (3 prime UTR variant)	Imerslund-Grasbeck syndrome type 1	GUncertain significance
Select item 879639	NM_001081.4(CUBN):c.*669C>T	CUBN	Single nucleotide variant (3 prime UTR variant)	Imerslund-Grasbeck syndrome type 1	GUncertain significance
Select item 299330	NM_001081.4(CUBN):c.*601A>G	CUBN	Single nucleotide variant (3 prime UTR variant)	Imerslund-Grasbeck syndrome type 1 +1 more	GBenign
Select item 879640	NM_001081.4(CUBN):c.*597A>C	CUBN	Single nucleotide variant (3 prime UTR variant)	Imerslund-Grasbeck syndrome type 1	GUncertain significance
Select item 299331	NM_001081.4(CUBN):c.*564G>C	CUBN	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 299332	NM_001081.4(CUBN):c.*560C>T	CUBN	Single nucleotide variant (3 prime UTR variant)	Imerslund-Grasbeck syndrome type 1	GUncertain significance
Select item 299333	NM_001081.4(CUBN):c.*514T>G	CUBN	Single nucleotide variant (3 prime UTR variant)	Imerslund-Grasbeck syndrome type 1	GUncertain significance
Select item 299334	NM_001081.4(CUBN):c.*470T>C	CUBN	Single nucleotide variant (3 prime UTR variant)	Imerslund-Grasbeck syndrome type 1	GUncertain significance
Select item 880003	NM_001081.4(CUBN):c.*460C>A	CUBN	Single nucleotide variant (3 prime UTR variant)	Imerslund-Grasbeck syndrome type 1	GUncertain significance
Select item 880004	NM_001081.4(CUBN):c.*453A>G	CUBN	Single nucleotide variant (3 prime UTR variant)	Imerslund-Grasbeck syndrome type 1	GUncertain significance
Select item 880005	NM_001081.4(CUBN):c.*446A>G	CUBN	Single nucleotide variant (3 prime UTR variant)	Imerslund-Grasbeck syndrome type 1	GUncertain significance
Select item 299335	NM_001081.4(CUBN):c.*436C>A	CUBN	Single nucleotide variant (3 prime UTR variant)	Imerslund-Grasbeck syndrome type 1	GUncertain significance
Select item 299336	NM_001081.4(CUBN):c.*420C>T	CUBN	Single nucleotide variant (3 prime UTR variant)	Imerslund-Grasbeck syndrome type 1	GLikely benign
Select item 299337	NM_001081.4(CUBN):c.*416G>A	CUBN	Single nucleotide variant (3 prime UTR variant)	Imerslund-Grasbeck syndrome type 1	GUncertain significance
Select item 880006	NM_001081.4(CUBN):c.*380T>C	CUBN	Single nucleotide variant (3 prime UTR variant)	Imerslund-Grasbeck syndrome type 1	GLikely benign
Select item 299338	NM_001081.4(CUBN):c.*373G>T	CUBN	Single nucleotide variant (3 prime UTR variant)	Imerslund-Grasbeck syndrome type 1	GUncertain significance
Select item 877207	NM_001081.4(CUBN):c.*330G>A	CUBN	Single nucleotide variant (3 prime UTR variant)	Imerslund-Grasbeck syndrome type 1 +1 more	GLikely benign
Select item 299339	NM_001081.4(CUBN):c.*330G>C	CUBN	Single nucleotide variant (3 prime UTR variant)	Imerslund-Grasbeck syndrome type 1 +1 more	GLikely benign
Select item 299341	NM_001081.4(CUBN):c.*329C>G	CUBN	Single nucleotide variant (3 prime UTR variant)	Imerslund-Grasbeck syndrome type 1	GUncertain significance
Select item 299340	NM_001081.4(CUBN):c.*329C>T	CUBN	Single nucleotide variant (3 prime UTR variant)	Imerslund-Grasbeck syndrome type 1	GUncertain significance
Select item 299342	NM_001081.4(CUBN):c.*305T>G	CUBN	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 877208	NM_001081.4(CUBN):c.*304G>T	CUBN	Single nucleotide variant (3 prime UTR variant)	Imerslund-Grasbeck syndrome type 1	GUncertain significance
Select item 877209	NM_001081.4(CUBN):c.*298G>A	CUBN	Single nucleotide variant (3 prime UTR variant)	Imerslund-Grasbeck syndrome type 1	GUncertain significance
Select item 299343	NM_001081.4(CUBN):c.*297C>T	CUBN	Single nucleotide variant (3 prime UTR variant)	Imerslund-Grasbeck syndrome type 1	GUncertain significance
Select item 299344	NM_001081.4(CUBN):c.*281A>G	CUBN	Single nucleotide variant (3 prime UTR variant)	Imerslund-Grasbeck syndrome type 1	GUncertain significance
Select item 878250	NM_001081.4(CUBN):c.*267A>T	CUBN	Single nucleotide variant (3 prime UTR variant)	Imerslund-Grasbeck syndrome type 1	GUncertain significance
Select item 299345	NM_001081.4(CUBN):c.*266C>T	CUBN	Single nucleotide variant (3 prime UTR variant)	Imerslund-Grasbeck syndrome type 1 +1 more	GLikely benign
Select item 299346	NM_001081.4(CUBN):c.*203C>T	CUBN	Single nucleotide variant (3 prime UTR variant)	Imerslund-Grasbeck syndrome type 1	GUncertain significance
Select item 299347	NM_001081.4(CUBN):c.*195T>C	CUBN	Single nucleotide variant (3 prime UTR variant)	Imerslund-Grasbeck syndrome type 1	GUncertain significance
Select item 299348	NM_001081.4(CUBN):c.*177C>G	CUBN	Single nucleotide variant (3 prime UTR variant)	Imerslund-Grasbeck syndrome type 1	GUncertain significance
Select item 299349	NM_001081.4(CUBN):c.*162G>A	CUBN	Single nucleotide variant (3 prime UTR variant)	Megaloblastic anemia +1 more	GUncertain significance
Select item 299350	NM_001081.4(CUBN):c.*151G>A	CUBN	Single nucleotide variant (3 prime UTR variant)	Imerslund-Grasbeck syndrome type 1 +1 more	GBenign/Likely benign
Select item 299351	NM_001081.4(CUBN):c.*134G>A	CUBN	Single nucleotide variant (3 prime UTR variant)	Imerslund-Grasbeck syndrome type 1 +1 more	GBenign
Select item 299352	NM_001081.4(CUBN):c.*93C>A	CUBN	Single nucleotide variant (3 prime UTR variant)	Imerslund-Grasbeck syndrome type 1 +1 more	GBenign/Likely benign
Select item 299353	NM_001081.4(CUBN):c.*81C>A	CUBN	Single nucleotide variant (3 prime UTR variant)	Imerslund-Grasbeck syndrome type 1	GUncertain significance
Select item 299354	NM_001081.4(CUBN):c.*45C>T	CUBN	Single nucleotide variant (3 prime UTR variant)	Imerslund-Grasbeck syndrome type 1 +1 more	GBenign/Likely benign
Select item 878850	NM_001081.4(CUBN):c.*15G>A	CUBN	Single nucleotide variant (3 prime UTR variant)	Imerslund-Grasbeck syndrome type 1	GUncertain significance
Select item 939620	NM_001081.4(CUBN):c.10853G>A (p.Arg3618Gln)	CUBN (R3618Q)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1 +2 more	GUncertain significance
Select item 873115	NM_001081.4(CUBN):c.10852C>T (p.Arg3618Ter)	CUBN (R3618*)	Single nucleotide variant (nonsense)	Proteinuria, chronic benign	GAffects
Select item 299355	NM_001081.4(CUBN):c.10846G>A (p.Ala3616Thr)	CUBN (A3616T)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1 +1 more	GUncertain significance
Select item 1590076	NM_001081.4(CUBN):c.10845C>T (p.Ser3615=)	CUBN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 1021317	NM_001081.4(CUBN):c.10838G>A (p.Arg3613His)	CUBN (R3613H)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome +2 more	GUncertain significance
Select item 2418777	NM_001081.4(CUBN):c.10835G>A (p.Arg3612Gln)	CUBN (R3612Q)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1531238	NM_001081.4(CUBN):c.10834C>T (p.Arg3612Trp)	CUBN (R3612W)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2307559	NM_001081.4(CUBN):c.10804G>A (p.Val3602Ile)	CUBN (V3602I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1006442	NM_001081.4(CUBN):c.10798A>C (p.Asn3600His)	CUBN (N3600H)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome	GUncertain significance
Select item 1397779	NM_001081.4(CUBN):c.10795T>C (p.Ser3599Pro)	CUBN (S3599P)	Single nucleotide variant (missense variant)	Proteinuria, chronic benign +2 more	GUncertain significance
Select item 878851	NM_001081.4(CUBN):c.10777G>A (p.Ala3593Thr)	CUBN (A3593T)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1	GUncertain significance
Select item 2082289	NM_001081.4(CUBN):c.10765-10dup	CUBN	Duplication (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2052544	NM_001081.4(CUBN):c.10765-18T>A	CUBN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 1203586	NM_001081.4(CUBN):c.10765-78T>C	CUBN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187091	NM_001081.4(CUBN):c.10764+282C>G	CUBN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211992	NM_001081.4(CUBN):c.10764+251G>A	CUBN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1244936	NM_001081.4(CUBN):c.10764+179C>T	CUBN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273473	NM_001081.4(CUBN):c.10764+129G>C	CUBN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204450	NM_001081.4(CUBN):c.10764+111G>T	CUBN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208835	NM_001081.4(CUBN):c.10764+82del	CUBN	Deletion (intron variant)	not provided	GLikely benign
Select item 1317392	NM_001081.4(CUBN):c.10764+43G>C	CUBN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2115688	NM_001081.4(CUBN):c.10764+16A>G	CUBN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 1616344	NM_001081.4(CUBN):c.10764+11C>T	CUBN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 632130	NM_001081.4(CUBN):c.10764+1G>A	CUBN	Single nucleotide variant (splice donor variant)	Imerslund-Grasbeck syndrome	GUncertain significance
Select item 299356	NM_001081.4(CUBN):c.10759G>A (p.Gly3587Arg)	CUBN (G3587R)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome +2 more	GBenign/Likely benign
Select item 2896397	NM_001081.4(CUBN):c.10758C>T (p.Cys3586=)	CUBN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 299357	NM_001081.4(CUBN):c.10752A>T (p.Pro3584=)	CUBN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome type 1	GUncertain significance
Select item 880057	NM_001081.4(CUBN):c.10742C>T (p.Ser3581Phe)	CUBN (S3581F)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1	GUncertain significance
Select item 3078904	NM_001081.4(CUBN):c.10738C>G (p.Pro3580Ala)	CUBN (P3580A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 880058	NM_001081.4(CUBN):c.10736C>T (p.Ser3579Phe)	CUBN (S3579F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1483766	NM_001081.4(CUBN):c.10729G>T (p.Ala3577Ser)	CUBN (A3577S)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1 +4 more	GUncertain significance
Select item 880059	NM_001081.4(CUBN):c.10729G>A (p.Ala3577Thr)	CUBN (A3577T)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1 +1 more	GConflicting classifications of pathogenicity
Select item 2723876	NM_001081.4(CUBN):c.10728C>T (p.Asn3576=)	CUBN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 880060	NM_001081.4(CUBN):c.10728C>G (p.Asn3576Lys)	CUBN (N3576K)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1	GUncertain significance
Select item 1976564	NM_001081.4(CUBN):c.10727A>G (p.Asn3576Ser)	CUBN (N3576S)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome	GUncertain significance
Select item 752553	NM_001081.4(CUBN):c.10722G>A (p.Gly3574=)	CUBN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1152085	NM_001081.4(CUBN):c.10710A>G (p.Thr3570=)	CUBN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2911717	NM_001081.4(CUBN):c.10695C>G (p.Val3565=)	CUBN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2866447	NM_001081.4(CUBN):c.10680T>C (p.Asp3560=)	CUBN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 1397958	NM_001081.4(CUBN):c.10678G>A (p.Asp3560Asn)	CUBN (D3560N)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome	GUncertain significance
Select item 695358	NM_001081.4(CUBN):c.10656C>T (p.Asn3552=)	CUBN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome +2 more	GBenign/Likely benign
Select item 299358	NM_001081.4(CUBN):c.10656C>A (p.Asn3552Lys)	CUBN (N3552K)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 2058356	NM_001081.4(CUBN):c.10644T>A (p.Leu3548=)	CUBN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 289333	NM_001081.4(CUBN):c.10641G>A (p.Arg3547=)	CUBN	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1322175	NM_001081.4(CUBN):c.10612G>T (p.Glu3538Ter)	CUBN (E3538*)	Single nucleotide variant (nonsense)	Imerslund-Grasbeck syndrome type 1 +3 more	GPathogenic/Likely pathogenic
Select item 583202	NM_001081.4(CUBN):c.10612G>A (p.Glu3538Lys)	CUBN (E3538K)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome	GUncertain significance
Select item 2506493	NM_001081.4(CUBN):c.10611C>A (p.Cys3537Ter)	CUBN (C3537*)	Single nucleotide variant (nonsense)	Proteinuria, chronic benign	GLikely pathogenic
Select item 697307	NM_001081.4(CUBN):c.10605G>A (p.Thr3535=)	CUBN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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