NUTM2B-AS1[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 203407	GRCh38/hg38 10q22.3(chr10:79491821-79798351)x3	EIF5AL1, LINC02679 +5 more	Copy number gain	See cases	GBenign
Select item 1679573	Single allele	LOC130004183, LOC130004184 +19 more	Deletion	not provided	GUncertain significance
Select item 153276	GRCh38/hg38 10q22.3-23.2(chr10:79689360-87223773)x1	ADIRF, ADIRF-AS1 +174 more	Copy number loss	See cases	GPathogenic
Select item 3025690	NM_001278495.2(NUTM2B):c.918T>C (p.His306=)	NUTM2B, NUTM2B-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640642	NM_001278495.2(NUTM2B):c.925A>G (p.Ser309Gly)	NUTM2B, NUTM2B-AS1 (S309G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 771885	NM_001278495.2(NUTM2B):c.1614C>T (p.Pro538=)	NUTM2B, NUTM2B-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640643	NM_001278495.2(NUTM2B):c.1686C>T (p.Leu562=)	NUTM2B, NUTM2B-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1206196	NM_001278495.2(NUTM2B):c.2027T>C (p.Met676Thr)	NUTM2B, NUTM2B-AS1 (M676T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2640644	NM_001278495.2(NUTM2B):c.2036G>A (p.Arg679Gln)	NUTM2B, NUTM2B-AS1 (R679Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2672403	NM_001278495.2(NUTM2B):c.2051G>A (p.Arg684Gln)	NUTM2B, NUTM2B-AS1 (R684Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1301606	NM_001278495.2(NUTM2B):c.2490_2499del (p.Glu831fs)	NUTM2B, NUTM2B-AS1 (E831fs)	Deletion (frameshift variant)	Oculopharyngeal myopathy with leukoencephalopathy 1	GBenign
Select item 1301607	NM_001278495.2(NUTM2B):c.2502_2503del (p.Tyr835fs)	NUTM2B, NUTM2B-AS1 (Y835fs)	Deletion (frameshift variant)	Oculopharyngeal myopathy with leukoencephalopathy 1	GBenign
Select item 58748	GRCh38/hg38 10q22.3-23.2(chr10:79719429-87358394)x1	ADIRF, ADIRF-AS1 +178 more	Copy number loss	See cases	GPathogenic
Select item 3026352	NC_000010.11:g.79723614G>A	NUTM2B-AS1	Single nucleotide variant	not provided	GBenign
Select item 147367	GRCh38/hg38 10q22.3-23.2(chr10:79802022-87068261)x1	ADIRF, ADIRF-AS1 +166 more	Copy number loss	See cases	GPathogenic
Select item 58751	GRCh38/hg38 10q22.3-23.2(chr10:79802022-87358394)x1	ADIRF, ADIRF-AS1 +178 more	Copy number loss	See cases	GPathogenic
Select item 2640645	NC_000010.11:g.79812006A>G	NUTM2B-AS1	Single nucleotide variant	not provided	GLikely benign
Select item 3026454	NC_000010.11:g.79812193T>C	NUTM2B-AS1	Single nucleotide variant	not provided	GUncertain significance
Select item 2640646	NR_029407.1(LOC642361):n.91G>A	LOC642361, NUTM2B-AS1	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 692219	NR_120611.1:n.192CCG[(35_?)]	NUTM2B-AS1	Microsatellite	Oculopharyngeal myopathy with leukoencephalopathy 1	GPathogenic

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Items: 21