Related gene-specific medical variations for Gene (Select 10998) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358708	NM_012254.3(SLC27A5):c.1469-10C>T	LOC130065230, SLC27A5	Single nucleotide variant (intron variant)	SLC27A5-related disorder	GLikely benign
Select item 3353835	NM_012254.3(SLC27A5):c.1585G>C (p.Val529Leu)	SLC27A5, LOC130065229 (V445L +1 more)	Single nucleotide variant (missense variant)	SLC27A5-related disorder	GUncertain significance
Select item 3163992	NM_012254.3(SLC27A5):c.1562G>T (p.Arg521Leu)	LOC130065229, SLC27A5 (R437L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3061639	NM_012254.3(SLC27A5):c.1578G>A (p.Ser526=)	LOC130065229, SLC27A5	Single nucleotide variant (synonymous variant)	SLC27A5-related disorder	GLikely benign
Select item 3060179	NM_012254.3(SLC27A5):c.1577C>T (p.Ser526Leu)	LOC130065229, SLC27A5 (S442L +1 more)	Single nucleotide variant (missense variant)	SLC27A5-related disorder	GUncertain significance
Select item 3036748	NM_012254.3(SLC27A5):c.1469-10C>A	LOC130065230, SLC27A5	Single nucleotide variant (intron variant)	SLC27A5-related disorder	GLikely benign
Select item 3019051	NM_012254.3(SLC27A5):c.1469-8T>C	LOC130065230, SLC27A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2863311	NM_012254.3(SLC27A5):c.1578G>C (p.Ser526=)	LOC130065229, SLC27A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2535592	NM_012254.3(SLC27A5):c.1555C>G (p.Leu519Val)	LOC130065229, SLC27A5 (L435V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 595267	NM_012254.3(SLC27A5):c.1478G>A (p.Gly493Glu)	LOC130065230, SLC27A5 (G493E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance