"Ambry Genetics"[submitter] AND "SLC28A3"[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 3164038	NM_001199633.2(SLC28A3):c.12G>T (p.Arg4Ser)	SLC28A3 (R4S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 32