Related gene-specific medical variations for Gene (Select 729262) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 2640643	NM_001278495.2(NUTM2B):c.1686C>T (p.Leu562=)	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 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 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 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 771885	NM_001278495.2(NUTM2B):c.1614C>T (p.Pro538=)	NUTM2B, NUTM2B-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign