"Ambry Genetics"[submitter] AND "PGLS-DT"[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 3211814	NM_012088.3(PGLS):c.7G>A (p.Ala3Thr)	PGLS, PGLS-DT (A3T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3211808	NM_012088.3(PGLS):c.13G>A (p.Ala5Thr)	PGLS, PGLS-DT (A5T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2346594	NM_012088.3(PGLS):c.31G>A (p.Val11Met)	PGLS, PGLS-DT (V11M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3211812	NM_012088.3(PGLS):c.42T>G (p.Ser14Arg)	PGLS, PGLS-DT (S14R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2616826	NM_012088.3(PGLS):c.112C>G (p.Arg38Gly)	PGLS, PGLS-DT (R38G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2481094	NM_012088.3(PGLS):c.119G>A (p.Arg40His)	PGLS, PGLS-DT (R40H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2384625	NM_012088.3(PGLS):c.127C>G (p.Leu43Val)	PGLS, PGLS-DT (L43V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2542018	NM_012088.3(PGLS):c.147C>A (p.Ser49Arg)	PGLS, PGLS-DT (S49R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2364970	NM_012088.3(PGLS):c.169G>A (p.Glu57Lys)	LOC130063946, PGLS +1 more (E57K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2270249	NM_012088.3(PGLS):c.193G>A (p.Ala65Thr)	LOC130063946, PGLS +1 more (A65T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance

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Items: 30