Related gene-specific medical variations for Gene (Select 93343) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3151427	NM_138401.4(MVB12A):c.97T>G (p.Cys33Gly)	LOC130063939, MVB12A (C33G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3151376	NM_138401.4(MVB12A):c.122G>A (p.Ser41Asn)	LOC130063939, MVB12A (S41N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2604785	NM_138401.4(MVB12A):c.86G>A (p.Ser29Asn)	LOC130063939, MVB12A (S29N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386381	NM_138401.4(MVB12A):c.88G>C (p.Ala30Pro)	LOC130063939, MVB12A (A30P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376544	NM_138401.4(MVB12A):c.140C>T (p.Ala47Val)	LOC130063939, MVB12A (A47V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2271698	NM_138401.4(MVB12A):c.41G>A (p.Gly14Asp)	LOC130063939, MVB12A (G14D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 523645	NC_000019.10:g.17406024_17406025insAGTCTGGGGGCGGGGCCTG	MVB12A, BISPR +2 more	Insertion (intron variant)	Human immunodeficiency virus type 1, rapid progression to AIDS	Gassociation

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