SLC28A3[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC126860768, LOC126860769 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC124310660, LOC124310661 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC111413024, LOC111413033 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC116216098, LOC116216099 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	DAPK1-IT1, DCAF10 +1366 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LCN15, LCN2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC126860765, LOC126860766 +3785 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	LOC130002043, LOC130002044 +1072 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	LOC126860637, LOC126860638 +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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 375669	NM_001199633.2(SLC28A3):c.1381C>T (p.Leu461=)	SLC28A3-AS1, SLC28A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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-AS1, SLC28A3 (S386P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2477076	NM_001199633.2(SLC28A3):c.1091T>G (p.Met364Arg)	SLC28A3 (M364R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2532181	NM_001199633.2(SLC28A3):c.1043T>C (p.Val348Ala)	SLC28A3 (V348A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2468523	NM_001199633.2(SLC28A3):c.869C>T (p.Pro290Leu)	SLC28A3 (P290L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2538203	NM_001199633.2(SLC28A3):c.624A>G (p.Ile208Met)	SLC28A3 (I208M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2472424	NM_001199633.2(SLC28A3):c.440T>C (p.Leu147Pro)	LOC126860659, SLC28A3 (L147P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2518639	NM_001199633.2(SLC28A3):c.314T>C (p.Ile105Thr)	SLC28A3 (I105T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2521138	NM_001199633.2(SLC28A3):c.220G>C (p.Asp74His)	SLC28A3 (D74H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2479268	NM_001199633.2(SLC28A3):c.208A>G (p.Met70Val)	SLC28A3 (M70V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2588256	NM_001199633.2(SLC28A3):c.175G>A (p.Val59Ile)	SLC28A3 (V59I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2392943	NM_001199633.2(SLC28A3):c.94T>C (p.Ser32Pro)	SLC28A3 (S32P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ABCA1, ABHD17B +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)	OR1L4, PTRH1 +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	IFNA16, NTRK2 +326 more	Inversion	Recurrent spontaneous abortion +1 more	GLikely pathogenic
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	ABCA1, ABCA2 +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	ABCA1, ABCA2 +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	ABHD17B, ACO1 +185 more	Complex	Glioma	GLikely pathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	SEC16A, SEC61B +553 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	SUSD3, SVEP1 +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)	PPP1R26, PPP3R2 +771 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ANGPTL2, ANKRD18A +771 more	Copy number gain	See cases	GPathogenic

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Items: 54