NUTM2B[gene] - ClinVar

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Items: 27

	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	GBenign
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-AS1, NUTM2B (Y835fs)	Deletion (frameshift variant)	Oculopharyngeal myopathy with leukoencephalopathy 1	GBenign
Select item 2685382	GRCh37/hg19 10q22.3(chr10:81289036-81872800)x1	NUTM2B, SFTPA1 +3 more	Copy number loss	not provided	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1340608	GRCh37/hg19 10q22.3(chr10:81446907-81844436)x1	NUTM2B, SFTPD +1 more	Copy number loss	not provided	GLikely benign
Select item 980931	GRCh37/hg19 10q22.3(chr10:81457752-81990746)x1	ANXA11, NUTM2B +3 more	Copy number loss	not provided	GUncertain significance
Select item 979275	GRCh37/hg19 10q22.3-23.2(chr10:81457752-89253430)x1	DYDC1, DYDC2 +34 more	Copy number loss	not provided	GPathogenic
Select item 979273	GRCh37/hg19 10q22.3-23.1(chr10:81028088-82059110)x3	NUTM2B, ANXA11 +10 more	Copy number gain	not provided	GUncertain significance
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic
Select item 563786	GRCh37/hg19 10q22.3-23.1(chr10:79808669-84008729)x3	MAT1A, DYDC1 +17 more	Copy number gain	not provided	GUncertain significance
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic

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Items: 27