Related gene-specific medical variations for Gene (Select 84944) - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3122017	NM_032858.3(MAEL):c.58C>G (p.Pro20Ala)	LOC126805904, MAEL (P20A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122015	NM_032858.3(MAEL):c.175C>G (p.Arg59Gly)	LOC126805904, MAEL (R3G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538640	NM_032858.3(MAEL):c.146A>G (p.Glu49Gly)	LOC126805904, MAEL (E49G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2327644	NM_032858.3(MAEL):c.10C>T (p.Arg4Cys)	LOC126805904, MAEL (R4C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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