SLC17A9[gene] - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	EDN3, EEF1A2 +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	LOC130066240, LOC130066241 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	ABHD16B, ADRM1 +491 more	Copy number gain	See cases	GPathogenic
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066376, LOC130066377 +464 more	Copy number gain	See cases	GPathogenic
Select item 146530	GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3	ABHD16B, ADRM1 +355 more	Copy number gain	See cases	GPathogenic
Select item 150212	GRCh38/hg38 20q13.33(chr20:61326549-64277326)x3	ABHD16B, ADRM1 +312 more	Copy number gain	See cases	GPathogenic
Select item 1707464	Single allele	ADRM1, ARFGAP1 +198 more	Duplication	not specified	GUncertain significance
Select item 58974	GRCh38/hg38 20q13.33(chr20:62455231-63839491)x1	ARFGAP1, ARFRP1 +183 more	Copy number loss	See cases	GPathogenic
Select item 58975	GRCh38/hg38 20q13.33(chr20:62545370-64241486)x1	ABHD16B, ARFGAP1 +249 more	Copy number loss	See cases	GPathogenic
Select item 144360	GRCh38/hg38 20q13.33(chr20:62561794-64277321)x1	OGFR-AS1, OPRL1 +248 more	Copy number loss	See cases	GPathogenic
Select item 153305	GRCh38/hg38 20q13.33(chr20:62582073-64284202)x1	ABHD16B, ARFGAP1 +244 more	Copy number loss	See cases	GPathogenic
Select item 2579288	GRCh38/hg38 20q13.33(chr20:62632017-63794804)x1	ARFGAP1, ARFRP1 +165 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 153207	GRCh38/hg38 20q13.33(chr20:62663307-64284202)x1	ABHD16B, ARFGAP1 +230 more	Copy number loss	See cases	GPathogenic
Select item 150969	GRCh38/hg38 20q13.33(chr20:62939140-63198970)x3	BHLHE23, GID8 +24 more	Copy number gain	See cases	GLikely benign
Select item 1696472	Single allele	LOC130066361, LOC130066362 +102 more	Duplication	not provided	GUncertain significance
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 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 +1 more	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)	SLC17A9-related disorder +1 more	GBenign/Likely 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 777611	NM_022082.4(SLC17A9):c.554G>C (p.Ser185Thr)	SLC17A9 (S185T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 +1 more	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 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 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 3062402	GRCh37/hg19 20q13.33(chr20:61421505-62070966)x1	ARFGAP1, BHLHE23 +15 more	Copy number loss	not specified	GPathogenic
Select item 2580344	GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3	ABHD16B, ADRM1 +113 more	Copy number gain	See cases	GUncertain significance
Select item 2427488	NC_000020.10:g.(?_61471874)_(62078210_?)del	CHRNA4, COL20A1 +13 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 2424333	NC_000020.10:g.(?_60831241)_(62680869_?)dup	SLC17A9, TNFRSF6B +50 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 1808258	GRCh37/hg19 20q13.33(chr20:60621074-62915555)x3	ABHD16B, ADRM1 +63 more	Copy number gain	not provided	GUncertain significance
Select item 1526698	GRCh37/hg19 20q13.33(chr20:61003263-62915555)	ABHD16B, ARFGAP1 +51 more	Copy number loss	not specified	GPathogenic
Select item 1526695	GRCh37/hg19 20q13.33(chr20:60473339-62915555)	OGFR, OPRL1 +64 more	Copy number gain	not specified	GUncertain significance
Select item 1526694	GRCh37/hg19 20q13.32-13.33(chr20:56835739-62915555)	LAMA5, LIME1 +88 more	Copy number gain	not specified	GPathogenic
Select item 1409926	NC_000020.10:g.(?_61448417)_(62124660_?)del	ARFGAP1, BHLHE23 +14 more	Deletion	Developmental and epileptic encephalopathy, 33 +1 more	GUncertain significance
Select item 1326336	GRCh37/hg19 20q13.33(chr20:61038552-62907579)	SLC17A9, ZGPAT +51 more	Copy number loss	Developmental and epileptic encephalopathy, 7 +1 more	GLikely pathogenic
Select item 1326335	GRCh37/hg19 20q13.33(chr20:61273854-62907579)	HAR1A, HAR1B +47 more	Copy number loss	Developmental and epileptic encephalopathy, 7 +1 more	GLikely pathogenic
Select item 1326334	GRCh37/hg19 20q13.33(chr20:61041481-62680992)	CHRNA4, ABHD16B +44 more	Copy number loss	Developmental and epileptic encephalopathy, 7 +1 more	GLikely pathogenic
Select item 1180535	GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3	GATA5, ZBTB46 +116 more	Copy number gain	not provided	GPathogenic
Select item 1047899	GRCh37/hg19 20q13.33(chr20:61510452-62315381)	ARFGAP1, BHLHE23 +20 more	Copy number loss	Epileptic spasm	GPathogenic
Select item 999459	NC_000020.10:g.(?_60831241)_(62664346_?)dup	RBBP8NL, ZBTB46 +49 more	Duplication	Developmental and epileptic encephalopathy, 33 +1 more	GUncertain significance
Select item 979743	GRCh37/hg19 20q13.33(chr20:61507440-62318983)x3	CHRNA4, STMN3 +20 more	Copy number gain	not provided	GUncertain significance
Select item 816137	GRCh37/hg19 20q13.33(chr20:61152321-62915555)x1	ABHD16B, ARFGAP1 +49 more	Copy number loss	not provided	GPathogenic
Select item 816132	GRCh37/hg19 20q13.32-13.33(chr20:56788101-62762405)x3	BHLHE23, ZGPAT +87 more	Copy number gain	not provided	GPathogenic
Select item 816131	GRCh37/hg19 20q13.31-13.33(chr20:55743522-62032989)x3	CDH4, CHRNA4 +68 more	Copy number gain	not provided	GPathogenic
Select item 689085	GRCh37/hg19 20q13.33(chr20:61548147-61619208)x1	DIDO1, GID8 +1 more	Copy number loss	not provided	GUncertain significance
Select item 687280	GRCh37/hg19 20q13.33(chr20:60946209-61975606)x3	ARFGAP1, BHLHE23 +23 more	Copy number gain	not provided	GUncertain significance
Select item 625661	GRCh37/hg19 20q13.2-13.33(chr20:54143747-62194881)	ADRM1, ANKRD60 +86 more	Copy number gain	not provided	GPathogenic
Select item 564633	GRCh37/hg19 20q13.33(chr20:61022397-61738592)x1	SLC17A9, OGFR +14 more	Copy number loss	not provided	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	DZANK1, E2F1 +540 more	Copy number gain	See cases	GPathogenic
Select item 442964	GRCh37/hg19 20q13.33(chr20:61530581-61911114)x1	ARFGAP1, BHLHE23 +8 more	Copy number loss	See cases	GLikely benign
Select item 441724	GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3	ABHD16B, ADRM1 +116 more	Copy number gain	See cases	GLikely pathogenic
Select item 425532	GRCh37/hg19 20q13.33(chr20:61337529-62904501)x1	COL9A3, DIDO1 +46 more	Copy number loss	not provided	GLikely pathogenic
Select item 394448	GRCh37/hg19 20q13.33(chr20:61595624-61637326)x3	SLC17A9	Copy number gain	See cases	GBenign
Select item 253468	GRCh37/hg19 20q13.33(chr20:61429900-62293991)x1	COL20A1, BHLHE23 +24 more	Copy number loss	See cases	GPathogenic
Select item 221406	GRCh37/hg19 20q13.33(chr20:60882468-62045494)x1	ADRM1, ARFGAP1 +26 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221355	chr20:60885242-61929348 complex variant	ARFGAP1, BHLHE23 +23 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 100