"Eurofins Ntd Llc (ga)"[submitter] AND "SIX5"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 593389	NM_175875.5(SIX5):c.1943C>T (p.Pro648Leu)	SIX5 (P648L)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 594728	NM_175875.5(SIX5):c.1872C>T (p.Pro624=)	SIX5	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 501593	NM_175875.5(SIX5):c.1588C>G (p.Leu530Val)	SIX5 (L530V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 594586	NM_175875.5(SIX5):c.732G>A (p.Gln244=)	SIX5, DM1-AS +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 501374	NM_175875.5(SIX5):c.714C>G (p.Thr238=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 596384	NM_175875.5(SIX5):c.549G>A (p.Val183=)	LOC107075317, SIX5 +1 more	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 594207	NM_175875.5(SIX5):c.369C>T (p.Ser123=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 500193	NM_175875.5(SIX5):c.213G>T (p.Gly71=)	DM1-AS, LOC107075317 +2 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign