Related gene-specific medical variations for Gene (Select 2700) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362114	NM_021954.4(GJA3):c.1006C>T (p.Gln336Ter)	GJA3 (Q336*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3064923	NM_021954.4(GJA3):c.175C>G (p.Pro59Ala)	GJA3 (P59A)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GPathogenic
Select item 369055	NM_021954.4(GJA3):c.-179C>T	GJA3, LOC130009313	Single nucleotide variant (5 prime UTR variant)	Zonular Pulverulent Cataract	GLikely benign

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