"Laboratory for Molecular Psychiatry, RIKEN"[submitter] AND "SLC27A4"[ - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 156250	NM_005094.4(SLC27A4):c.13G>T (p.Ala5Ser)	SLC27A4 (A5S)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 156258	NM_005094.4(SLC27A4):c.250G>A (p.Val84Ile)	SLC27A4 (V84I)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 156259	NM_005094.4(SLC27A4):c.352C>T (p.Leu118=)	SLC27A4	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 156260	NM_005094.4(SLC27A4):c.513C>G (p.Thr171=)	SLC27A4	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 156261	NM_005094.4(SLC27A4):c.519C>T (p.Arg173=)	SLC27A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 156262	NM_005094.4(SLC27A4):c.523C>T (p.Arg175Trp)	SLC27A4 (R175W)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 156465	NM_005094.4(SLC27A4):c.716-16C>T	SLC27A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 156263	NM_005094.4(SLC27A4):c.823C>T (p.Arg275Cys)	SLC27A4 (R275C)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 156249	NM_005094.4(SLC27A4):c.1237G>A (p.Val413Met)	SLC27A4 (V413M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 156251	NM_005094.4(SLC27A4):c.1440G>A (p.Lys480=)	SLC27A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 156252	NM_005094.4(SLC27A4):c.1462+25C>T	SLC27A4	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 156253	NM_005094.4(SLC27A4):c.1504C>T (p.Arg502Ter)	SLC27A4 (R502*)	Single nucleotide variant (nonsense)	Lamellar ichthyosis +1 more	GPathogenic/Likely pathogenic
Select item 156254	NM_005094.4(SLC27A4):c.1575C>T (p.Leu525=)	SLC27A4	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 156255	NM_005094.4(SLC27A4):c.1775-13C>T	SLC27A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 156256	NM_005094.4(SLC27A4):c.1881G>A (p.Pro627=)	SLC27A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 156257	NM_005094.4(SLC27A4):c.1904G>A (p.Arg635His)	SLC27A4 (R635H)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 156531	NM_005094.4(SLC27A4):c.*23C>T	SLC27A4	Single nucleotide variant (3 prime UTR variant)	not provided	Gnot provided