"Revvity Omics, Revvity"[submitter] AND "LOC107075317"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2435957	NM_175875.5(SIX5):c.1069G>A (p.Gly357Ser)	LOC107075317, SIX5 (G357S)	Single nucleotide variant (missense variant)	Branchiootorenal syndrome 2	GUncertain significance
Select item 2387564	NM_175875.5(SIX5):c.931C>T (p.Pro311Ser)	LOC107075317, SIX5 (P311S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 8599	NM_175875.5(SIX5):c.886G>A (p.Ala296Thr)	LOC107075317, SIX5 (A296T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2435958	NM_175875.5(SIX5):c.503G>A (p.Arg168His)	DM1-AS, LOC107075317 +1 more (R168H)	Single nucleotide variant (missense variant)	Branchiootorenal syndrome 2	GUncertain significance
Select item 2440885	NM_004409.5(DMPK):c.1754T>C (p.Leu585Pro)	DM1-AS, DMPK +1 more (L580P +10 more)	Single nucleotide variant (missense variant +1 more)	Steinert myotonic dystrophy syndrome	GUncertain significance
Select item 2440879	NM_004409.5(DMPK):c.1685C>T (p.Pro562Leu)	DM1-AS, DMPK +2 more (P557L +8 more)	Single nucleotide variant (missense variant +2 more)	Steinert myotonic dystrophy syndrome	GUncertain significance
Select item 2440883	NM_004409.5(DMPK):c.1580T>G (p.Leu527Arg)	DM1-AS, DMPK +1 more (L438R +5 more)	Single nucleotide variant (missense variant +1 more)	Steinert myotonic dystrophy syndrome	GUncertain significance

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