Related gene-specific medical variations for Gene (Select 130006599) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3208357	NM_015368.4(PANX1):c.68C>G (p.Pro23Arg)	LOC130006599, PANX1 (P23R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208355	NM_015368.4(PANX1):c.49C>G (p.Leu17Val)	LOC130006599, PANX1 (L17V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561005	NM_015368.4(PANX1):c.22A>G (p.Thr8Ala)	LOC130006599, PANX1 (T8A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1254433	NM_015368.4(PANX1):c.15A>C (p.Gln5His)	LOC130006599, PANX1 (Q5H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1241308	NM_015368.4(PANX1):c.-21C>G	LOC130006599, PANX1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 781966	NM_015368.4(PANX1):c.81G>T (p.Gly27=)	LOC130006599, PANX1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 725136	NM_015368.4(PANX1):c.99T>C (p.Ala33=)	LOC130006599, PANX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 689424	NM_015368.4(PANX1):c.62_70del (p.Thr21_Pro23del)	LOC130006599, PANX1	Deletion (inframe_deletion)	Oocyte maturation defect 7	GPathogenic

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