SLC28A3[gene] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC130001854, LOC130001855 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 2338763	NM_001199633.2(SLC28A3):c.1798G>A (p.Val600Met)	SLC28A3, SLC28A3-AS1 (V600M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319409	NM_001199633.2(SLC28A3):c.1762G>A (p.Ala588Thr)	SLC28A3, SLC28A3-AS1 (A588T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269664	NM_001199633.2(SLC28A3):c.1753C>T (p.Arg585Cys)	SLC28A3, SLC28A3-AS1 (R585C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319412	NM_001199633.2(SLC28A3):c.1675G>A (p.Ala559Thr)	SLC28A3, SLC28A3-AS1 (A559T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623210	NM_001199633.2(SLC28A3):c.1652G>A (p.Arg551His)	SLC28A3, SLC28A3-AS1 (R551H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495278	NM_001199633.2(SLC28A3):c.1627G>C (p.Gly543Arg)	SLC28A3, SLC28A3-AS1 (G543R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507619	NM_001199633.2(SLC28A3):c.1553A>G (p.Asn518Ser)	SLC28A3, SLC28A3-AS1 (N518S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216765	NM_001199633.2(SLC28A3):c.1456T>C (p.Cys486Arg)	SLC28A3, SLC28A3-AS1 (C486R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484595	NM_001199633.2(SLC28A3):c.1399G>C (p.Ala467Pro)	SLC28A3, SLC28A3-AS1 (A467P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 375669	NM_001199633.2(SLC28A3):c.1381C>T (p.Leu461=)	SLC28A3, SLC28A3-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3319411	NM_001199633.2(SLC28A3):c.1316G>A (p.Gly439Glu)	SLC28A3, SLC28A3-AS1 (G439E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 768311	NM_001199633.2(SLC28A3):c.1176G>A (p.Ala392=)	SLC28A3, SLC28A3-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2516398	NM_001199633.2(SLC28A3):c.1156T>C (p.Ser386Pro)	SLC28A3, SLC28A3-AS1 (S386P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 768312	NM_001199633.2(SLC28A3):c.1122C>T (p.Ser374=)	SLC28A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2609508	NM_001199633.2(SLC28A3):c.1100G>C (p.Gly367Ala)	SLC28A3 (G367A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477076	NM_001199633.2(SLC28A3):c.1091T>G (p.Met364Arg)	SLC28A3 (M364R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319410	NM_001199633.2(SLC28A3):c.1084G>A (p.Ala362Thr)	SLC28A3 (A362T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164037	NM_001199633.2(SLC28A3):c.1081C>T (p.His361Tyr)	SLC28A3 (H361Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164036	NM_001199633.2(SLC28A3):c.1078C>T (p.Leu360Phe)	SLC28A3 (L360F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532181	NM_001199633.2(SLC28A3):c.1043T>C (p.Val348Ala)	SLC28A3 (V348A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164049	NM_001199633.2(SLC28A3):c.949T>C (p.Trp317Arg)	SLC28A3 (W317R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468523	NM_001199633.2(SLC28A3):c.869C>T (p.Pro290Leu)	SLC28A3 (P290L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164048	NM_001199633.2(SLC28A3):c.691T>C (p.Trp231Arg)	SLC28A3 (W231R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538203	NM_001199633.2(SLC28A3):c.624A>G (p.Ile208Met)	SLC28A3 (I208M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164047	NM_001199633.2(SLC28A3):c.568G>C (p.Ala190Pro)	SLC28A3 (A190P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164046	NM_001199633.2(SLC28A3):c.537C>G (p.Ser179Arg)	SLC28A3 (S179R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164044	NM_001199633.2(SLC28A3):c.508T>G (p.Trp170Gly)	LOC126860659, SLC28A3 (W170G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164043	NM_001199633.2(SLC28A3):c.443T>A (p.Met148Lys)	LOC126860659, SLC28A3 (M148K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472424	NM_001199633.2(SLC28A3):c.440T>C (p.Leu147Pro)	LOC126860659, SLC28A3 (L147P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518639	NM_001199633.2(SLC28A3):c.314T>C (p.Ile105Thr)	SLC28A3 (I105T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164042	NM_001199633.2(SLC28A3):c.304C>T (p.Arg102Trp)	SLC28A3 (R102W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164041	NM_001199633.2(SLC28A3):c.274G>C (p.Gly92Arg)	SLC28A3 (G92R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319414	NM_001199633.2(SLC28A3):c.266C>T (p.Thr89Ile)	SLC28A3 (T89I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521138	NM_001199633.2(SLC28A3):c.220G>C (p.Asp74His)	SLC28A3 (D74H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164040	NM_001199633.2(SLC28A3):c.216T>G (p.Asp72Glu)	SLC28A3 (D72E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479268	NM_001199633.2(SLC28A3):c.208A>G (p.Met70Val)	SLC28A3 (M70V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164039	NM_001199633.2(SLC28A3):c.181C>G (p.Gln61Glu)	SLC28A3 (Q61E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588256	NM_001199633.2(SLC28A3):c.175G>A (p.Val59Ile)	SLC28A3 (V59I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2392943	NM_001199633.2(SLC28A3):c.94T>C (p.Ser32Pro)	SLC28A3 (S32P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319413	NM_001199633.2(SLC28A3):c.49G>A (p.Val17Met)	SLC28A3 (V17M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 778434	NM_001199633.2(SLC28A3):c.14G>A (p.Ser5Asn)	SLC28A3 (S5N)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3164038	NM_001199633.2(SLC28A3):c.12G>T (p.Arg4Ser)	SLC28A3 (R4S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1527531	GRCh37/hg19 9q21.32-21.33(chr9:86741460-87435983)	NTRK2, SLC28A3	Copy number loss	not specified	GUncertain significance
Select item 1527521	GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)	ABCA1, ABHD17B +261 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1340766	GRCh37/hg19 9q21.32-21.33(chr9:86698238-87169096)x3	SLC28A3	Copy number gain	not provided	GLikely benign
Select item 694460	NC_000009.11:g.12246100_101559378inv	ANKS6, ANP32B +326 more	Inversion	Abnormal chromosome morphology +1 more	GLikely pathogenic
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685433	GRCh37/hg19 9q21.32-21.33(chr9:86434567-88413614)x3	AGTPBP1, C9orf64 +6 more	Copy number gain	not provided	GUncertain significance
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 625637	GRCh37/hg19 9q21.2-22.32(chr9:79520825-97201274)	AGTPBP1, ASPN +79 more	Copy number gain	not provided	GPathogenic
Select item 617751	Single allele	APBA1, APTX +185 more	Complex	Glioma	GLikely pathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 442489	GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3	ABHD17B, ACER2 +274 more	Copy number gain	See cases	GPathogenic
Select item 441750	GRCh37/hg19 9q21.11-22.1(chr9:70966262-90761254)x4	ABHD17B, AGTPBP1 +74 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 73