"Ambry Genetics"[submitter] AND "TMEM259"[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2519427	NM_001033026.2(TMEM259):c.1723G>A (p.Gly575Ser)	TMEM259 (G575S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2480561	NM_001033026.2(TMEM259):c.1681C>T (p.Leu561Phe)	TMEM259 (L561F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2369816	NM_001033026.2(TMEM259):c.1669C>G (p.Leu557Val)	TMEM259 (L557V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2596244	NM_001033026.2(TMEM259):c.1553C>T (p.Ala518Val)	TMEM259 (A518V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2468751	NM_001033026.2(TMEM259):c.1522G>A (p.Gly508Arg)	TMEM259 (G508R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2341858	NM_001033026.2(TMEM259):c.1513G>A (p.Val505Ile)	TMEM259 (V505I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2306643	NM_001033026.2(TMEM259):c.1498C>A (p.Pro500Thr)	TMEM259 (P500T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2558165	NM_001033026.2(TMEM259):c.1463C>T (p.Ala488Val)	TMEM259 (A488V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2570258	NM_001033026.2(TMEM259):c.1430C>A (p.Ala477Glu)	TMEM259 (A477E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2463811	NM_001033026.2(TMEM259):c.1375C>A (p.Arg459Ser)	TMEM259 (R459S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2390432	NM_001033026.2(TMEM259):c.1256A>G (p.His419Arg)	TMEM259 (H419R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2292301	NM_001033026.2(TMEM259):c.1144C>T (p.Leu382Phe)	TMEM259 (L382F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547502	NM_001033026.2(TMEM259):c.1101G>A (p.Met367Ile)	TMEM259 (M367I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249218	NM_001033026.2(TMEM259):c.891G>A (p.Met297Ile)	TMEM259 (M297I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487781	NM_001033026.2(TMEM259):c.801G>T (p.Met267Ile)	TMEM259 (M267I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455586	NM_001033026.2(TMEM259):c.596C>T (p.Thr199Met)	TMEM259 (T199M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605770	NM_001033026.2(TMEM259):c.589C>G (p.Pro197Ala)	TMEM259 (P197A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319549	NM_001033026.2(TMEM259):c.575A>G (p.Gln192Arg)	TMEM259 (Q192R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343858	NM_001033026.2(TMEM259):c.542C>T (p.Pro181Leu)	TMEM259 (P181L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332315	NM_001033026.2(TMEM259):c.537C>G (p.Phe179Leu)	TMEM259 (F179L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273482	NM_001033026.2(TMEM259):c.471G>C (p.Glu157Asp)	TMEM259 (E157D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278789	NM_001033026.2(TMEM259):c.460G>A (p.Glu154Lys)	TMEM259 (E154K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395143	NM_001033026.2(TMEM259):c.448A>G (p.Met150Val)	TMEM259 (M150V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2479689	NM_001033026.2(TMEM259):c.442C>G (p.Leu148Val)	TMEM259 (L148V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369817	NM_001033026.2(TMEM259):c.413C>T (p.Pro138Leu)	TMEM259 (P138L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593841	NM_001033026.2(TMEM259):c.365C>A (p.Ala122Glu)	TMEM259 (A122E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477878	NM_001033026.2(TMEM259):c.359G>A (p.Ser120Asn)	TMEM259 (S120N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342030	NM_001033026.2(TMEM259):c.275G>A (p.Arg92His)	TMEM259 (R92H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409533	NM_001033026.2(TMEM259):c.170C>T (p.Ser57Leu)	TMEM259 (S57L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409972	NM_001033026.2(TMEM259):c.127C>G (p.Arg43Gly)	TMEM259 (R43G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230185	NM_001033026.2(TMEM259):c.119T>G (p.Val40Gly)	TMEM259 (V40G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410338	NM_001033026.2(TMEM259):c.104A>C (p.Asn35Thr)	LOC130062865, TMEM259 (N35T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388270	NM_001033026.2(TMEM259):c.89C>T (p.Pro30Leu)	LOC130062865, TMEM259 (P30L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619495	NM_001033026.2(TMEM259):c.12C>G (p.His4Gln)	LOC130062866, TMEM259 (H4Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 34