"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LOC107075317"[gen - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 668435	NM_175875.5(SIX5):c.1042C>T (p.Leu348=)	LOC107075317, SIX5	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 732703	NM_175875.5(SIX5):c.1023C>T (p.Gly341=)	LOC107075317, SIX5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1049684	NM_175875.5(SIX5):c.945C>G (p.Cys315Trp)	LOC107075317, SIX5 (C315W)	Single nucleotide variant (missense variant)	Branchiootorenal syndrome 2	GUncertain significance
Select item 748766	NM_175875.5(SIX5):c.936C>T (p.Pro312=)	LOC107075317, SIX5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 730320	NM_175875.5(SIX5):c.915C>T (p.Phe305=)	LOC107075317, SIX5	Single nucleotide variant (synonymous variant)	Branchiootorenal syndrome 2 +1 more	GLikely benign
Select item 1653359	NM_175875.5(SIX5):c.603C>T (p.Gly201=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 596384	NM_175875.5(SIX5):c.549G>A (p.Val183=)	SIX5, DM1-AS +1 more	Single nucleotide variant (synonymous variant)	Branchiootorenal syndrome 2 +2 more	GBenign/Likely benign
Select item 1316705	NM_175875.5(SIX5):c.543C>A (p.Gly181=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1318075	NM_175875.5(SIX5):c.492C>T (p.Tyr164=)	DM1-AS, SIX5 +1 more	Single nucleotide variant (synonymous variant)	Branchiootorenal syndrome 2 +1 more	GLikely benign
Select item 782651	NM_175875.5(SIX5):c.375G>C (p.Pro125=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1367847	NM_175875.5(SIX5):c.258C>G (p.Phe86Leu)	DM1-AS, LOC107075317 +2 more (F86L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1318265	NM_175875.5(SIX5):c.108G>A (p.Leu36=)	DM1-AS, LOC107075317 +2 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1580218	NM_175875.5(SIX5):c.15T>G (p.Pro5=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	Branchiootorenal syndrome 2 +1 more	GLikely benign