NUTM2E[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC126860963, LOC126860964 +1008 more	Copy number gain	See cases	GPathogenic
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 58748	GRCh38/hg38 10q22.3-23.2(chr10:79719429-87358394)x1	ADIRF, ADIRF-AS1 +178 more	Copy number loss	See cases	GPathogenic
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 2640647	NM_001355263.2(NUTM2E):c.1126C>T (p.Leu376=)	NUTM2E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640648	NM_001355263.2(NUTM2E):c.1370C>A (p.Ala457Asp)	NUTM2E (A457D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2640649	NM_001355263.2(NUTM2E):c.1614C>T (p.Pro538=)	NUTM2E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640650	NM_001355263.2(NUTM2E):c.1680G>A (p.Pro560=)	NUTM2E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640651	NM_001355263.2(NUTM2E):c.1697T>C (p.Ile566Thr)	NUTM2E (I566T)	Single nucleotide variant (missense variant)	not provided	GLikely benign