SLC17A9[gene] and "single gene"[properties] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2486347	NM_022082.4(SLC17A9):c.10C>A (p.Pro4Thr)	SLC17A9 (P4T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 156579	NM_022082.4(SLC17A9):c.25C>T (p.Arg9Cys)	SLC17A9 (R9C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3318996	NM_022082.4(SLC17A9):c.40G>C (p.Gly14Arg)	SLC17A9 (G14R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2388645	NM_022082.4(SLC17A9):c.50A>G (p.Gln17Arg)	SLC17A9 (Q17R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2330557	NM_022082.4(SLC17A9):c.50A>C (p.Gln17Pro)	SLC17A9 (Q17P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3034667	NM_022082.4(SLC17A9):c.59+342C>A	SLC17A9	Single nucleotide variant (5 prime UTR variant +1 more)	SLC17A9-related disorder	GLikely benign
Select item 2369092	NM_022082.4(SLC17A9):c.64G>A (p.Glu22Lys)	SLC17A9 (E22K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 797534	NM_022082.4(SLC17A9):c.186C>T (p.Ala62=)	SLC17A9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2258729	NM_022082.4(SLC17A9):c.187G>A (p.Gly63Ser)	SLC17A9 (G57S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045682	NM_022082.4(SLC17A9):c.190A>T (p.Ile64Phe)	SLC17A9 (I58F +1 more)	Single nucleotide variant (missense variant)	SLC17A9-related disorder	GLikely benign
Select item 717119	NM_022082.4(SLC17A9):c.250G>A (p.Gly84Arg)	SLC17A9 (G78R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2344003	NM_022082.4(SLC17A9):c.253G>A (p.Asp85Asn)	SLC17A9 (D85N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709518	NM_022082.4(SLC17A9):c.257+1G>T	SLC17A9	Single nucleotide variant (splice donor variant)	not provided	GBenign
Select item 709519	NM_022082.4(SLC17A9):c.257+2T>C	SLC17A9	Single nucleotide variant (splice donor variant)	not provided	GBenign
Select item 2211048	NM_022082.4(SLC17A9):c.268G>A (p.Glu90Lys)	SLC17A9 (E90K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040082	NM_022082.4(SLC17A9):c.316G>A (p.Val106Ile)	SLC17A9 (V100I +1 more)	Single nucleotide variant (missense variant)	SLC17A9-related disorder	GBenign
Select item 3056817	NM_022082.4(SLC17A9):c.330C>T (p.Leu110=)	SLC17A9	Single nucleotide variant (synonymous variant)	SLC17A9-related disorder	GBenign
Select item 2210881	NM_022082.4(SLC17A9):c.455G>A (p.Arg152Gln)	SLC17A9 (R152Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777610	NM_022082.4(SLC17A9):c.473del (p.Ile158fs)	SLC17A9 (I158fs +1 more)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 2468181	NM_022082.4(SLC17A9):c.505C>G (p.Leu169Val)	SLC17A9 (L163V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3054589	NM_022082.4(SLC17A9):c.516G>A (p.Ala172=)	SLC17A9	Single nucleotide variant (synonymous variant)	SLC17A9-related disorder	GLikely benign
Select item 3039531	NM_022082.4(SLC17A9):c.543C>T (p.Tyr181=)	SLC17A9	Single nucleotide variant (synonymous variant)	SLC17A9-related disorder	GLikely benign
Select item 3163211	NM_022082.4(SLC17A9):c.544G>A (p.Gly182Ser)	SLC17A9 (G176S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050601	NM_022082.4(SLC17A9):c.546C>T (p.Gly182=)	SLC17A9	Single nucleotide variant (synonymous variant)	SLC17A9-related disorder	GLikely benign
Select item 3318993	NM_022082.4(SLC17A9):c.551A>G (p.Gln184Arg)	SLC17A9 (Q178R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777611	NM_022082.4(SLC17A9):c.554G>C (p.Ser185Thr)	SLC17A9 (S185T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2386240	NM_022082.4(SLC17A9):c.571G>A (p.Gly191Ser)	SLC17A9 (G185S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393838	NM_022082.4(SLC17A9):c.601G>A (p.Val201Met)	SLC17A9 (V195M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163212	NM_022082.4(SLC17A9):c.616C>A (p.Leu206Met)	SLC17A9 (L206M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781503	NM_022082.4(SLC17A9):c.629-7C>T	SLC17A9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2374915	NM_022082.4(SLC17A9):c.649G>A (p.Val217Ile)	SLC17A9 (V211I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044028	NM_022082.4(SLC17A9):c.663C>T (p.Ser221=)	SLC17A9	Single nucleotide variant (synonymous variant)	SLC17A9-related disorder	GLikely benign
Select item 781504	NM_022082.4(SLC17A9):c.683= (p.Asn228=)	SLC17A9	Variation (no sequence alteration)	not provided	GBenign
Select item 2407292	NM_022082.4(SLC17A9):c.701G>A (p.Arg234Gln)	SLC17A9 (R228Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2391885	NM_022082.4(SLC17A9):c.703C>G (p.Leu235Val)	SLC17A9 (L229V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462645	NM_022082.4(SLC17A9):c.710G>A (p.Arg237Gln)	SLC17A9 (R231Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041355	NM_022082.4(SLC17A9):c.733G>A (p.Val245Ile)	SLC17A9 (V239I +1 more)	Single nucleotide variant (missense variant)	SLC17A9-related disorder	GBenign
Select item 2212412	NM_022082.4(SLC17A9):c.814G>A (p.Asp272Asn)	SLC17A9 (D266N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717120	NM_022082.4(SLC17A9):c.823-7C>T	SLC17A9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2460938	NM_022082.4(SLC17A9):c.863C>T (p.Pro288Leu)	SLC17A9 (P282L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 587582	NM_022082.4(SLC17A9):c.931C>T (p.Arg311Trp)	SLC17A9 (R311W +1 more)	Single nucleotide variant (missense variant)	Porokeratosis 8, disseminated superficial actinic type	GUncertain significance
Select item 156578	NM_022082.4(SLC17A9):c.932G>A (p.Arg311Gln)	SLC17A9 (R311Q +1 more)	Single nucleotide variant (missense variant)	Porokeratosis 8, disseminated superficial actinic type	GPathogenic
Select item 3318997	NM_022082.4(SLC17A9):c.953G>T (p.Gly318Val)	SLC17A9 (G318V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602112	NM_022082.4(SLC17A9):c.977C>G (p.Ala326Gly)	SLC17A9 (A320G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1031327	NM_022082.4(SLC17A9):c.1012T>C (p.Ser338Pro)	SLC17A9 (S332P +1 more)	Single nucleotide variant (missense variant)	Porokeratosis 8, disseminated superficial actinic type	GUncertain significance
Select item 3033958	NM_022082.4(SLC17A9):c.1038C>T (p.Ile346=)	SLC17A9	Single nucleotide variant (synonymous variant)	SLC17A9-related disorder	GLikely benign
Select item 3318995	NM_022082.4(SLC17A9):c.1039G>A (p.Gly347Ser)	SLC17A9 (G341S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264311	NM_022082.4(SLC17A9):c.1094C>T (p.Pro365Leu)	SLC17A9 (P359L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527158	NM_022082.4(SLC17A9):c.1105G>T (p.Gly369Cys)	SLC17A9 (G369C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281635	NM_022082.4(SLC17A9):c.1105G>A (p.Gly369Ser)	SLC17A9 (G369S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789908	NM_022082.4(SLC17A9):c.1147+9C>T	SLC17A9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3056517	NM_022082.4(SLC17A9):c.1190C>T (p.Thr397Met)	SLC17A9 (T391M +1 more)	Single nucleotide variant (missense variant)	SLC17A9-related disorder	GBenign
Select item 2468762	NM_022082.4(SLC17A9):c.1229T>A (p.Ile410Asn)	SLC17A9 (I410N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163209	NM_022082.4(SLC17A9):c.1289G>A (p.Ser430Asn)	SLC17A9 (S430N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046228	NM_022082.4(SLC17A9):c.1305C>T (p.Asp435=)	SLC17A9	Single nucleotide variant (synonymous variant)	SLC17A9-related disorder	GLikely benign
Select item 394448	GRCh37/hg19 20q13.33(chr20:61595624-61637326)x3	SLC17A9	Copy number gain	See cases	GBenign

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Items: 56