SLC17A3[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 149747	GRCh38/hg38 6p22.3-22.2(chr6:23252522-25967277)x1	ACOT13, ALDH5A1 +64 more	Copy number loss	See cases	GUncertain significance
Select item 2592221	NM_001098486.2(SLC17A3):c.1490G>T (p.Arg497Leu)	SLC17A3 (R497L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389903	NM_001098486.2(SLC17A3):c.1490G>A (p.Arg497His)	SLC17A3 (R419H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318971	NM_001098486.2(SLC17A3):c.1489C>T (p.Arg497Cys)	SLC17A3 (R497C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375821	NM_001098486.2(SLC17A3):c.1483C>T (p.Leu495Phe)	SLC17A3 (L417F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377424	NM_001098486.2(SLC17A3):c.1469C>T (p.Ala490Val)	SLC17A3 (A490V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044906	NM_001098486.2(SLC17A3):c.1407C>T (p.Ala469=)	SLC17A3	Single nucleotide variant (synonymous variant)	SLC17A3-related disorder	GBenign
Select item 3163174	NM_001098486.2(SLC17A3):c.1381A>T (p.Arg461Trp)	SLC17A3 (R461W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163173	NM_001098486.2(SLC17A3):c.1319C>G (p.Ala440Gly)	SLC17A3 (A440G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378977	NM_001098486.2(SLC17A3):c.1316T>C (p.Ile439Thr)	SLC17A3 (I361T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405277	NM_001098486.2(SLC17A3):c.1274A>G (p.Tyr425Cys)	SLC17A3 (Y425C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362717	NM_001098486.2(SLC17A3):c.1229G>A (p.Cys410Tyr)	SLC17A3 (C332Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290880	NM_001098486.2(SLC17A3):c.1223C>T (p.Thr408Ile)	SLC17A3 (T408I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034976	NM_001098486.2(SLC17A3):c.1210T>A (p.Cys404Ser)	SLC17A3 (C326S +1 more)	Single nucleotide variant (missense variant)	SLC17A3-related disorder	GBenign
Select item 3052099	NM_001098486.2(SLC17A3):c.1140A>G (p.Ser380=)	SLC17A3	Single nucleotide variant (synonymous variant)	SLC17A3-related disorder	GBenign
Select item 36975	NM_001098486.2(SLC17A3):c.911T>C (p.Phe304Ser)	SLC17A3 (F304S +1 more)	Single nucleotide variant (missense variant)	Uric acid concentration, serum, quantitative trait locus 4	Gassociation
Select item 3163179	NM_001098486.2(SLC17A3):c.853C>A (p.Leu285Ile)	SLC17A3 (L285I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057092	NM_001098486.2(SLC17A3):c.835G>A (p.Gly279Arg)	SLC17A3 (G201R +1 more)	Single nucleotide variant (missense variant)	SLC17A3-related disorder	GBenign
Select item 2304568	NM_001098486.2(SLC17A3):c.832G>A (p.Val278Ile)	SLC17A3 (V200I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300564	NM_001098486.2(SLC17A3):c.763G>A (p.Asp255Asn)	SLC17A3 (D177N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329319	NM_001098486.2(SLC17A3):c.626G>A (p.Gly209Glu)	SLC17A3 (G131E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163175	NM_001098486.2(SLC17A3):c.577T>G (p.Trp193Gly)	SLC17A3 (W193G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600383	NM_001098486.2(SLC17A3):c.215C>T (p.Pro72Leu)	SLC17A3 (P72L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331183	NM_001098486.2(SLC17A3):c.213C>A (p.Ser71Arg)	SLC17A3 (S71R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 36976	NM_001098486.2(SLC17A3):c.202A>C (p.Asn68His)	SLC17A3 (N68H)	Single nucleotide variant (missense variant)	Uric acid concentration, serum, quantitative trait locus 4	Grisk factor
Select item 3318972	NM_001098486.2(SLC17A3):c.188T>C (p.Met63Thr)	SLC17A3 (M63T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398906	NM_001098486.2(SLC17A3):c.175A>G (p.Met59Val)	SLC17A3 (M59V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469338	NM_001098486.2(SLC17A3):c.155C>T (p.Thr52Met)	SLC17A3 (T52M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2599813	NM_001098486.2(SLC17A3):c.137A>G (p.His46Arg)	SLC17A3 (H46R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375255	NM_001098486.2(SLC17A3):c.130G>A (p.Val44Ile)	SLC17A3 (V44I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2336441	NM_001098486.2(SLC17A3):c.124G>A (p.Ala42Thr)	SLC17A3 (A42T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163178	NM_001098486.2(SLC17A3):c.59T>C (p.Met20Thr)	SLC17A3 (M20T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359135	NM_001098486.2(SLC17A3):c.49G>A (p.Ala17Thr)	SLC17A3 (A17T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163176	NM_001098486.2(SLC17A3):c.41G>C (p.Ser14Thr)	SLC17A3 (S14T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616019	NM_001098486.2(SLC17A3):c.41G>A (p.Ser14Asn)	SLC17A3 (S14N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062940	GRCh37/hg19 6p22.2(chr6:25560739-26008260)x3	CARMIL1, H2AC1 +7 more	Copy number gain	not specified	GUncertain significance
Select item 2685197	GRCh37/hg19 6p22.3-22.2(chr6:21704602-26187420)x1	ACOT13, ALDH5A1 +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 1527230	GRCh37/hg19 6p22.2(chr6:25839165-26536884)	BTN2A1, BTN2A2 +42 more	Copy number gain	not specified	GUncertain significance
Select item 979705	GRCh37/hg19 6p22.2(chr6:25622751-25853825)x1	SLC17A3, H2AC1 +4 more	Copy number loss	not provided	GUncertain significance
Select item 563167	GRCh37/hg19 6p22.2(chr6:25851789-26319486)x3	H1-1, H1-2 +36 more	Copy number gain	not provided	GUncertain significance
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 44