Related gene-specific medical variations for Gene (Select 79026) - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3055472	NM_001620.3(AHNAK):c.10GAG[3] (p.Glu5_Thr6insGlu)	AHNAK, LOC126861227	Microsatellite (inframe insertion)	AHNAK-related disorder	GBenign
Select item 2558868	NM_001620.3(AHNAK):c.118A>G (p.Asn40Asp)	AHNAK, LOC126861227 (N40D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550595	NM_001620.3(AHNAK):c.139G>C (p.Gly47Arg)	AHNAK, LOC126861227 (G47R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 974739	NC_000011.10:g.62483829_62531399dup	AHNAK	Duplication	Megacolon	GLikely pathogenic

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