SLC27A1[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 155504	GRCh38/hg38 19p13.11(chr19:17246895-17730147)x1	ABHD8, ANKLE1 +64 more	Copy number loss	See cases	GUncertain significance
Select item 153111	GRCh38/hg38 19p13.11(chr19:17308207-17705382)x1	ANO8, BISPR +46 more	Copy number loss	See cases	GUncertain significance
Select item 2524940	NM_198580.3(SLC27A1):c.179T>C (p.Val60Ala)	SLC27A1 (V60A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163928	NM_198580.3(SLC27A1):c.218G>T (p.Arg73Leu)	SLC27A1 (R73L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163929	NM_198580.3(SLC27A1):c.241A>G (p.Ile81Val)	SLC27A1 (I81V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319352	NM_198580.3(SLC27A1):c.380C>G (p.Pro127Arg)	SLC27A1 (P127R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204533	NM_198580.3(SLC27A1):c.385G>A (p.Asp129Asn)	SLC27A1 (D129N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163930	NM_198580.3(SLC27A1):c.412C>T (p.Arg138Trp)	SLC27A1 (R138W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782922	NM_198580.3(SLC27A1):c.453G>A (p.Ala151=)	SLC27A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3163931	NM_198580.3(SLC27A1):c.459G>A (p.Met153Ile)	SLC27A1 (M153I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324965	NM_198580.3(SLC27A1):c.487C>T (p.Arg163Trp)	SLC27A1 (R163W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163932	NM_198580.3(SLC27A1):c.600G>C (p.Leu200Phe)	SLC27A1 (L200F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163933	NM_198580.3(SLC27A1):c.613T>C (p.Ser205Pro)	SLC27A1 (S205P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546186	NM_198580.3(SLC27A1):c.643C>T (p.Pro215Ser)	SLC27A1 (P215S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709795	NM_198580.3(SLC27A1):c.702G>A (p.Gln234=)	SLC27A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3319354	NM_198580.3(SLC27A1):c.718A>C (p.Met240Leu)	SLC27A1 (M240L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319347	NM_198580.3(SLC27A1):c.728G>A (p.Arg243His)	SLC27A1 (R243H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163934	NM_198580.3(SLC27A1):c.781G>A (p.Val261Ile)	SLC27A1 (V261I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727450	NM_198580.3(SLC27A1):c.794+8G>A	SLC27A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2559971	NM_198580.3(SLC27A1):c.839A>G (p.Gln280Arg)	SLC27A1 (Q280R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 719227	NM_198580.3(SLC27A1):c.1614C>T (p.Ala538=)	PGLS-DT, SLC27A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 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 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 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 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 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 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 714886	NM_198580.3(SLC27A1):c.1934C>T (p.Ala645Val)	PGLS-DT, SLC27A1 (A645V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 441789	GRCh37/hg19 19p13.11(chr19:17325373-17840956)x1	ABHD8, ANKLE1 +21 more	Copy number loss	See cases	GUncertain significance
Select item 424641	GRCh37/hg19 19p13.12-13.11(chr19:15970389-17893528)x1	HSH2D, KLF2 +46 more	Copy number loss	not provided	GPathogenic
Select item 253947	GRCh37/hg19 19p13.11(chr19:17514059-17899363)x3	NIBAN3, PGLS-DT +10 more	Copy number gain	See cases	GUncertain significance

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Items: 60