Related gene-specific medical variations for Gene (Select 23423) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3053767	NC_000015.10:g.79411508A>G	TMED3, MINAR1	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=)	MINAR1, TMED3	Single nucleotide variant (synonymous variant)	TMED3-related disorder	GLikely benign
Select item 2614337	NM_007364.4(TMED3):c.14T>C (p.Val5Ala)	LOC130057714, TMED3 (V5A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2387551	NM_007364.4(TMED3):c.17C>T (p.Pro6Leu)	LOC130057714, TMED3 (P6L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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