"Ambry Genetics"[submitter] AND "TMEM175"[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2593640	NM_032326.4(TMEM175):c.5C>G (p.Ser2Cys)	TMEM175 (S2C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3178971	NM_032326.4(TMEM175):c.14G>A (p.Arg5Gln)	TMEM175 (R5Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2538130	NM_032326.4(TMEM175):c.49T>G (p.Cys17Gly)	TMEM175 (C17G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2375458	NM_032326.4(TMEM175):c.63G>C (p.Arg21Ser)	TMEM175 (R21S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2384009	NM_032326.4(TMEM175):c.76G>A (p.Ala26Thr)	TMEM175 (A26T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2222842	NM_032326.4(TMEM175):c.173C>T (p.Thr58Met)	TMEM175 (T58M)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2366295	NM_032326.4(TMEM175):c.238G>A (p.Val80Ile)	TMEM175 (V80I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2348694	NM_032326.4(TMEM175):c.259A>C (p.Ile87Leu)	TMEM175 (I87L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398133	NM_032326.4(TMEM175):c.268G>A (p.Val90Met)	TMEM175 (V90M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369645	NM_032326.4(TMEM175):c.313A>G (p.Thr105Ala)	TMEM175 (T105A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178972	NM_032326.4(TMEM175):c.319G>A (p.Asp107Asn)	TMEM175 (D107N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606267	NM_032326.4(TMEM175):c.383C>T (p.Ser128Leu)	TMEM175 (S128L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178973	NM_032326.4(TMEM175):c.452G>C (p.Gly151Ala)	TMEM175 (G35A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178974	NM_032326.4(TMEM175):c.467T>C (p.Leu156Pro)	TMEM175 (L74P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592717	NM_032326.4(TMEM175):c.578C>T (p.Pro193Leu)	TMEM175 (P77L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361659	NM_032326.4(TMEM175):c.649G>A (p.Val217Ile)	TMEM175 (V101I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469868	NM_032326.4(TMEM175):c.718C>T (p.Pro240Ser)	TMEM175 (P240S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411966	NM_032326.4(TMEM175):c.733G>C (p.Val245Leu)	TMEM175 (V129L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274164	NM_032326.4(TMEM175):c.823C>T (p.Leu275Phe)	TMEM175 (L159F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252708	NM_032326.4(TMEM175):c.844G>A (p.Glu282Lys)	TMEM175 (E282K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304648	NM_032326.4(TMEM175):c.853G>A (p.Val285Ile)	TMEM175 (V203I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467423	NM_032326.4(TMEM175):c.913G>A (p.Ala305Thr)	TMEM175 (A305T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324861	NM_032326.4(TMEM175):c.925C>T (p.Arg309Cys)	TMEM175 (R193C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412136	NM_032326.4(TMEM175):c.935C>A (p.Ala312Glu)	TMEM175 (A196E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346923	NM_032326.4(TMEM175):c.943G>A (p.Gly315Ser)	TMEM175 (G199S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178976	NM_032326.4(TMEM175):c.976G>A (p.Ala326Thr)	TMEM175 (A210T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255009	NM_032326.4(TMEM175):c.1109G>A (p.Arg370His)	TMEM175 (R370H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2350005	NM_032326.4(TMEM175):c.1123C>T (p.Arg375Cys)	TMEM175 (R259C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382260	NM_032326.4(TMEM175):c.1130G>A (p.Arg377His)	TMEM175 (R295H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569771	NM_032326.4(TMEM175):c.1190C>T (p.Ala397Val)	TMEM175 (A315V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178966	NM_032326.4(TMEM175):c.1202A>G (p.Gln401Arg)	TMEM175 (Q285R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375024	NM_032326.4(TMEM175):c.1205C>T (p.Ala402Val)	TMEM175 (A286V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264575	NM_032326.4(TMEM175):c.1220C>T (p.Pro407Leu)	TMEM175 (P407L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178967	NM_032326.4(TMEM175):c.1326G>T (p.Arg442Ser)	TMEM175 (R326S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596916	NM_032326.4(TMEM175):c.1372G>A (p.Ala458Thr)	TMEM175 (A342T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539140	NM_032326.4(TMEM175):c.1391T>C (p.Leu464Pro)	TMEM175 (L348P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178968	NM_032326.4(TMEM175):c.1396G>A (p.Val466Met)	TMEM175 (V350M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366449	NM_032326.4(TMEM175):c.1421G>A (p.Arg474Gln)	TMEM175 (R358Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410268	NM_032326.4(TMEM175):c.1429C>T (p.Arg477Trp)	TMEM175 (R361W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178969	NM_032326.4(TMEM175):c.1460C>T (p.Pro487Leu)	TMEM175 (P371L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178970	NM_032326.4(TMEM175):c.1480G>A (p.Asp494Asn)	TMEM175 (D412N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327259	NM_032326.4(TMEM175):c.1499T>C (p.Leu500Pro)	TMEM175 (L500P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 42