Related gene-specific medical variations for Gene (Select 643236) - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2378779	NM_001123376.3(TMEM72):c.469G>A (p.Val157Met)	TMEM72, TMEM72-AS1 (V39M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252562	NM_001123376.3(TMEM72):c.433T>C (p.Ser145Pro)	TMEM72, TMEM72-AS1 (S27P +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2227301	NM_001123376.3(TMEM72):c.689G>A (p.Arg230His)	TMEM72, TMEM72-AS1 (R112H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 156705	NM_001123376.3(TMEM72):c.413C>A (p.Ala138Asp)	TMEM72, TMEM72-AS1 (A138D +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided

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