Related gene-specific medical variations for Gene (Select 376497) - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3319353	NM_198580.3(SLC27A1):c.896T>A (p.Ile299Asn)	LOC130063945, PGLS-DT +1 more (I299N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3319351	NM_198580.3(SLC27A1):c.1909A>G (p.Thr637Ala)	PGLS-DT, SLC27A1 (T637A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319350	NM_198580.3(SLC27A1):c.994A>G (p.Thr332Ala)	PGLS-DT, SLC27A1 (T332A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319349	NM_198580.3(SLC27A1):c.1382G>A (p.Arg461His)	PGLS-DT, SLC27A1 (R461H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319346	NM_198580.3(SLC27A1):c.1051G>A (p.Glu351Lys)	PGLS-DT, SLC27A1 (E351K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319345	NM_198580.3(SLC27A1):c.1797C>G (p.Ile599Met)	PGLS-DT, SLC27A1 (I599M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163927	NM_198580.3(SLC27A1):c.1817G>A (p.Arg606Gln)	PGLS-DT, SLC27A1 (R606Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163926	NM_198580.3(SLC27A1):c.1741C>T (p.Arg581Trp)	PGLS-DT, SLC27A1 (R581W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163925	NM_198580.3(SLC27A1):c.1538G>A (p.Arg513His)	PGLS-DT, SLC27A1 (R513H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163924	NM_198580.3(SLC27A1):c.1376C>T (p.Pro459Leu)	PGLS-DT, SLC27A1 (P459L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163923	NM_198580.3(SLC27A1):c.1312C>T (p.Leu438Phe)	PGLS-DT, SLC27A1 (L438F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163922	NM_198580.3(SLC27A1):c.1258C>G (p.Arg420Gly)	PGLS-DT, SLC27A1 (R420G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163921	NM_198580.3(SLC27A1):c.1135G>C (p.Gly379Arg)	PGLS-DT, SLC27A1 (G379R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163920	NM_198580.3(SLC27A1):c.1055C>T (p.Ala352Val)	PGLS-DT, SLC27A1 (A352V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532863	NM_198580.3(SLC27A1):c.1477G>A (p.Val493Met)	PGLS-DT, SLC27A1 (V493M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521355	NM_198580.3(SLC27A1):c.1805C>T (p.Thr602Met)	PGLS-DT, SLC27A1 (T602M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389802	NM_198580.3(SLC27A1):c.1835G>A (p.Arg612His)	PGLS-DT, SLC27A1 (R612H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360475	NM_198580.3(SLC27A1):c.1666G>A (p.Val556Ile)	PGLS-DT, SLC27A1 (V556I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2338613	NM_198580.3(SLC27A1):c.1547G>A (p.Gly516Glu)	PGLS-DT, SLC27A1 (G516E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310641	NM_198580.3(SLC27A1):c.1742G>A (p.Arg581Gln)	PGLS-DT, SLC27A1 (R581Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292826	NM_198580.3(SLC27A1):c.1000G>A (p.Val334Ile)	PGLS-DT, SLC27A1 (V334I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286307	NM_198580.3(SLC27A1):c.967T>C (p.Trp323Arg)	PGLS-DT, SLC27A1 (W323R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2285455	NM_198580.3(SLC27A1):c.1579G>A (p.Val527Met)	PGLS-DT, SLC27A1 (V527M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275795	NM_198580.3(SLC27A1):c.1597G>A (p.Gly533Ser)	PGLS-DT, SLC27A1 (G533S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238961	NM_198580.3(SLC27A1):c.1093G>C (p.Gly365Arg)	PGLS-DT, SLC27A1 (G365R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205367	NM_198580.3(SLC27A1):c.1532C>T (p.Thr511Ile)	PGLS-DT, SLC27A1 (T511I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781462	NM_198580.3(SLC27A1):c.887-6C>A	LOC130063945, PGLS-DT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 719227	NM_198580.3(SLC27A1):c.1614C>T (p.Ala538=)	PGLS-DT, SLC27A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 714886	NM_198580.3(SLC27A1):c.1934C>T (p.Ala645Val)	PGLS-DT, SLC27A1 (A645V)	Single nucleotide variant (missense variant)	not provided	GBenign

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Links from Gene

Items: 29