"GeneDx"[submitter] AND "LOC126806316"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1295128	NM_003466.4(PAX8):c.777+105A>G	LOC126806316, PAX8 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209482	NM_003466.4(PAX8):c.701A>G (p.Glu234Gly)	LOC126806316, PAX8 +1 more (E234G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 894420	NM_003466.4(PAX8):c.700G>A (p.Glu234Lys)	LOC126806316, PAX8 +1 more (E234K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1878900	NM_003466.4(PAX8):c.673A>C (p.Thr225Pro)	LOC126806316, PAX8 +1 more (T225P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1326506	NM_003466.4(PAX8):c.602-12G>A	LOC126806316, PAX8 +1 more	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1288664	NM_003466.4(PAX8):c.601+51C>G	LOC126806316, PAX8 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1328866	NM_003466.4(PAX8):c.601A>C (p.Ser201Arg)	LOC126806316, PAX8 +1 more (S201R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar