"Fulgent Genetics, Fulgent Genetics"[submitter] AND "SLC17A8"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 47884	NM_139319.3(SLC17A8):c.54G>A (p.Lys18=)	SLC17A8	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 25 +2 more	GBenign
Select item 513749	NM_139319.3(SLC17A8):c.232A>G (p.Ile78Val)	SLC17A8 (I78V)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 25 +1 more	GLikely benign
Select item 165242	NM_139319.3(SLC17A8):c.355-4C>A	SLC17A8	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 25 +2 more	GBenign
Select item 306628	NM_139319.3(SLC17A8):c.658G>A (p.Ala220Thr)	SLC17A8 (A220T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 198617	NM_139319.3(SLC17A8):c.858T>C (p.Tyr286=)	SLC17A8	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1420306	NM_139319.3(SLC17A8):c.1330C>T (p.Arg444Cys)	SLC17A8 (R394C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

ClinVar