Related gene-specific medical variations for Gene (Select 23251) - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3053767	NM_001330376.2(TMED3):c.*4A>G	MINAR1, TMED3	Single nucleotide variant (3 prime UTR variant)	TMED3-related disorder	GLikely benign
Select item 3052086	NM_001330376.2(TMED3):c.459C>T (p.Val153=)	MINAR1, TMED3	Single nucleotide variant (synonymous variant)	TMED3-related disorder	GLikely benign
Select item 3031394	NM_001330376.2(TMED3):c.492C>A (p.Thr164=)	TMED3, MINAR1	Single nucleotide variant (synonymous variant)	TMED3-related disorder	GLikely benign
Select item 815739	GRCh37/hg19 15q25.1(chr15:79635680-79742970)x1	MINAR1	Copy number loss	not provided	GUncertain significance

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