Related gene-specific medical variations for Gene (Select 4124) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3292824	NM_002372.4(MAN2A1):c.30C>A (p.Phe10Leu)	MAN2A1, MAN2A1-DT (F10L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3292823	NM_002372.4(MAN2A1):c.83G>A (p.Arg28Gln)	MAN2A1, MAN2A1-DT (R28Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3122490	NM_002372.4(MAN2A1):c.28T>G (p.Phe10Val)	MAN2A1, MAN2A1-DT (F10V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3122477	NM_002372.4(MAN2A1):c.119A>G (p.Glu40Gly)	MAN2A1, MAN2A1-DT (E40G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 814722	GRCh37/hg19 5q21.3(chr5:109172485-109290057)x1	MAN2A1	Copy number loss	not provided	GUncertain significance

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