"PreventionGenetics, part of Exact Sciences"[submitter] AND "SLC17A8"[ - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 178632	NM_139319.3(SLC17A8):c.23C>T (p.Thr8Ile)	SLC17A8 (T8I)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 47884	NM_139319.3(SLC17A8):c.54G>A (p.Lys18=)	SLC17A8	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 47882	NM_139319.3(SLC17A8):c.171G>A (p.Thr57=)	SLC17A8	Single nucleotide variant (synonymous variant)	SLC17A8-related disorder +3 more	GBenign
Select item 47883	NM_139319.3(SLC17A8):c.336T>C (p.Asp112=)	SLC17A8	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 262468	NM_139319.3(SLC17A8):c.354+16T>C	SLC17A8	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 47885	NM_139319.3(SLC17A8):c.711G>A (p.Leu237=)	SLC17A8	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 306629	NM_139319.3(SLC17A8):c.723G>A (p.Leu241=)	SLC17A8	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2028211	NM_139319.3(SLC17A8):c.765C>T (p.Gly255=)	SLC17A8	Single nucleotide variant (synonymous variant)	SLC17A8-related disorder +1 more	GLikely benign
Select item 198617	NM_139319.3(SLC17A8):c.858T>C (p.Tyr286=)	SLC17A8	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 25 +2 more	GBenign/Likely benign
Select item 3030135	NM_139319.3(SLC17A8):c.1068A>G (p.Ser356=)	SLC17A8	Single nucleotide variant (synonymous variant)	SLC17A8-related disorder	GLikely benign
Select item 2414175	NM_139319.3(SLC17A8):c.1095C>T (p.Ile365=)	SLC17A8	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 225471	NM_139319.3(SLC17A8):c.1120G>T (p.Ala374Ser)	SLC17A8 (A374S +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 25 +2 more	GConflicting classifications of pathogenicity
Select item 2636649	NM_139319.3(SLC17A8):c.1151C>T (p.Thr384Ile)	SLC17A8 (T334I +1 more)	Single nucleotide variant (missense variant)	SLC17A8-related disorder	GUncertain significance
Select item 1189499	NM_139319.3(SLC17A8):c.1187-10C>T	SLC17A8	Single nucleotide variant (intron variant)	SLC17A8-related disorder +1 more	GLikely benign
Select item 2180657	NM_139319.3(SLC17A8):c.1211T>C (p.Leu404Pro)	SLC17A8 (L354P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 179405	NM_139319.3(SLC17A8):c.1298-14dup	SLC17A8	Duplication	not specified +1 more	GBenign/Likely benign
Select item 1650271	NM_139319.3(SLC17A8):c.1537G>A (p.Glu513Lys)	SLC17A8 (E463K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 306636	NM_139319.3(SLC17A8):c.1631AGA[1] (p.Lys545del)	SLC17A8 (K545del +1 more)	Microsatellite (inframe_deletion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1197148	NM_139319.3(SLC17A8):c.*6G>C	SLC17A8	Single nucleotide variant (3 prime UTR variant)	SLC17A8-related disorder +1 more	GLikely benign