"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "SLC27A5"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3380639	NM_012254.3(SLC27A5):c.1966_1968del (p.Gly656del)	SLC27A5 (G572del +1 more)	Deletion	not provided	GUncertain significance
Select item 1693757	NM_012254.3(SLC27A5):c.1841A>G (p.Gln614Arg)	SLC27A5 (Q530R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380640	NM_012254.3(SLC27A5):c.1765+2T>A	SLC27A5	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 285420	NM_012254.3(SLC27A5):c.1616T>C (p.Met539Thr)	SLC27A5 (M539T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 288099	NM_012254.3(SLC27A5):c.1535G>T (p.Arg512Leu)	SLC27A5 (R512L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1693758	NM_012254.3(SLC27A5):c.1429G>A (p.Val477Met)	SLC27A5 (V393M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1987212	NM_012254.3(SLC27A5):c.1377+11G>A	SLC27A5	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 289260	NM_012254.3(SLC27A5):c.1229G>A (p.Gly410Glu)	SLC27A5 (G410E +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 598234	NM_012254.3(SLC27A5):c.1196G>A (p.Arg399Gln)	SLC27A5 (R399Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 281887	NM_012254.3(SLC27A5):c.1160G>A (p.Arg387Gln)	SLC27A5 (R387Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3380642	NM_012254.3(SLC27A5):c.1149C>T (p.Gly383=)	SLC27A5	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2629435	NM_012254.3(SLC27A5):c.1124G>A (p.Gly375Asp)	SLC27A5 (G291D +1 more)	Single nucleotide variant (missense variant)	SLC27A5-related disorder +1 more	GUncertain significance
Select item 289551	NM_012254.3(SLC27A5):c.934G>A (p.Val312Ile)	SLC27A5 (V312I +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2634167	NM_012254.3(SLC27A5):c.777del (p.Val261fs)	SLC27A5 (V177fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 288697	NM_012254.3(SLC27A5):c.524C>T (p.Thr175Ile)	SLC27A5 (T175I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 498426	NM_012254.3(SLC27A5):c.451C>T (p.Arg151Trp)	SLC27A5 (R151W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2683522	NM_012254.3(SLC27A5):c.445G>A (p.Asp149Asn)	SLC27A5 (D149N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2683523	NM_012254.3(SLC27A5):c.247G>C (p.Gly83Arg)	SLC27A5 (G83R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance