Related gene-specific medical variations for Gene (Select 64078) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 1340766	GRCh37/hg19 9q21.32-21.33(chr9:86698238-87169096)x3	SLC28A3	Copy number gain	not provided	GLikely benign
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 375669	NM_001199633.2(SLC28A3):c.1381C>T (p.Leu461=)	SLC28A3, SLC28A3-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign