"Ambry Genetics"[submitter] AND "SLC27A5"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 500241	NM_012254.3(SLC27A5):c.2017C>T (p.Arg673Trp)	SLC27A5 (R673W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2305347	NM_012254.3(SLC27A5):c.2002C>T (p.Arg668Trp)	SLC27A5 (R668W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264744	NM_012254.3(SLC27A5):c.1990G>A (p.Val664Ile)	SLC27A5 (V664I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2396449	NM_012254.3(SLC27A5):c.1928T>A (p.Leu643Gln)	SLC27A5 (L559Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227597	NM_012254.3(SLC27A5):c.1877C>A (p.Pro626His)	SLC27A5 (P542H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535592	NM_012254.3(SLC27A5):c.1555C>G (p.Leu519Val)	LOC130065229, SLC27A5 (L435V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 288099	NM_012254.3(SLC27A5):c.1535G>T (p.Arg512Leu)	SLC27A5 (R512L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 595158	NM_012254.3(SLC27A5):c.1498G>T (p.Val500Leu)	SLC27A5 (V500L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2259767	NM_012254.3(SLC27A5):c.1496T>A (p.Val499Glu)	SLC27A5 (V415E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2164572	NM_012254.3(SLC27A5):c.1435G>A (p.Asp479Asn)	SLC27A5 (D395N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2559198	NM_012254.3(SLC27A5):c.1426C>T (p.Pro476Ser)	SLC27A5 (P476S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381940	NM_012254.3(SLC27A5):c.1340G>A (p.Arg447His)	SLC27A5 (R447H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 502330	NM_012254.3(SLC27A5):c.1265G>A (p.Arg422His)	SLC27A5 (R422H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2558957	NM_012254.3(SLC27A5):c.1130C>A (p.Thr377Lys)	SLC27A5 (T377K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217326	NM_012254.3(SLC27A5):c.967G>C (p.Gly323Arg)	SLC27A5 (G239R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 289884	NM_012254.3(SLC27A5):c.842G>A (p.Arg281His)	SLC27A5 (R281H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2478655	NM_012254.3(SLC27A5):c.761A>G (p.His254Arg)	SLC27A5 (H170R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 500204	NM_012254.3(SLC27A5):c.695G>A (p.Arg232Gln)	SLC27A5 (R232Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2313207	NM_012254.3(SLC27A5):c.659C>T (p.Ser220Phe)	SLC27A5 (S220F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 596447	NM_012254.3(SLC27A5):c.553G>A (p.Val185Ile)	SLC27A5 (V185I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 288697	NM_012254.3(SLC27A5):c.524C>T (p.Thr175Ile)	SLC27A5 (T175I)	Single nucleotide variant (missense variant +1 more)	SLC27A5-related condition +2 more	GConflicting classifications of pathogenicity
Select item 289036	NM_012254.3(SLC27A5):c.464C>T (p.Ala155Val)	SLC27A5 (A155V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 287503	NM_012254.3(SLC27A5):c.368G>A (p.Arg123Gln)	SLC27A5 (R123Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2590908	NM_012254.3(SLC27A5):c.360C>A (p.Phe120Leu)	SLC27A5 (F120L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 193363	NM_012254.3(SLC27A5):c.335C>T (p.Pro112Leu)	SLC27A5 (P112L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2382133	NM_012254.3(SLC27A5):c.328C>T (p.Arg110Trp)	SLC27A5 (R110W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323051	NM_012254.3(SLC27A5):c.308A>T (p.Lys103Met)	SLC27A5 (K103M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534921	NM_012254.3(SLC27A5):c.235C>T (p.Arg79Trp)	SLC27A5 (R79W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 501324	NM_012254.3(SLC27A5):c.158G>A (p.Arg53Gln)	SLC27A5 (R53Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2520240	NM_012254.3(SLC27A5):c.130G>A (p.Val44Met)	SLC27A5 (V44M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316309	NM_012254.3(SLC27A5):c.118C>T (p.Pro40Ser)	SLC27A5 (P40S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 597584	NM_012254.3(SLC27A5):c.106C>T (p.Leu36Phe)	SLC27A5 (L36F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2313671	NM_012254.3(SLC27A5):c.16C>G (p.Gln6Glu)	SLC27A5 (Q6E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 33