"Ambry Genetics"[submitter] AND "TMEM121B"[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2541130	NM_031890.4(TMEM121B):c.1678G>A (p.Glu560Lys)	TMEM121B (E560K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178495	NM_031890.4(TMEM121B):c.1667A>G (p.His556Arg)	TMEM121B (H201R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178494	NM_031890.4(TMEM121B):c.1643C>A (p.Pro548His)	TMEM121B (P548H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178493	NM_031890.4(TMEM121B):c.1634C>T (p.Pro545Leu)	TMEM121B (P190L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178492	NM_031890.4(TMEM121B):c.1588G>C (p.Ala530Pro)	TMEM121B (A175P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178491	NM_031890.4(TMEM121B):c.1564G>A (p.Gly522Ser)	TMEM121B (G167S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178490	NM_031890.4(TMEM121B):c.1562G>A (p.Arg521Gln)	TMEM121B (R166Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178489	NM_031890.4(TMEM121B):c.1429G>A (p.Val477Met)	TMEM121B (V122M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513709	NM_031890.4(TMEM121B):c.1335G>C (p.Glu445Asp)	TMEM121B (E445D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178487	NM_031890.4(TMEM121B):c.1256C>G (p.Pro419Arg)	TMEM121B (P64R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605649	NM_031890.4(TMEM121B):c.1234C>G (p.Leu412Val)	TMEM121B (L57V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178486	NM_031890.4(TMEM121B):c.1193G>A (p.Gly398Asp)	TMEM121B (G43D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178485	NM_031890.4(TMEM121B):c.1166G>T (p.Arg389Leu)	TMEM121B (R34L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178484	NM_031890.4(TMEM121B):c.1145C>T (p.Pro382Leu)	TMEM121B (P27L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178483	NM_031890.4(TMEM121B):c.1144C>T (p.Pro382Ser)	TMEM121B (P27S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178482	NM_031890.4(TMEM121B):c.1129C>T (p.Pro377Ser)	TMEM121B (P22S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552571	NM_031890.4(TMEM121B):c.1123G>A (p.Ala375Thr)	TMEM121B (A375T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178481	NM_031890.4(TMEM121B):c.1121G>T (p.Gly374Val)	TMEM121B (G374V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178480	NM_031890.4(TMEM121B):c.1030C>T (p.Arg344Cys)	TMEM121B (R344C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2486318	NM_031890.4(TMEM121B):c.868G>A (p.Gly290Arg)	TMEM121B (G290R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178516	NM_031890.4(TMEM121B):c.824A>C (p.His275Pro)	TMEM121B (H275P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178513	NM_031890.4(TMEM121B):c.779C>T (p.Ala260Val)	TMEM121B (A260V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178511	NM_031890.4(TMEM121B):c.674T>C (p.Leu225Pro)	TMEM121B (L225P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178509	NM_031890.4(TMEM121B):c.628G>A (p.Ala210Thr)	TMEM121B (A210T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178508	NM_031890.4(TMEM121B):c.575C>A (p.Pro192His)	TMEM121B (P192H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178507	NM_031890.4(TMEM121B):c.562C>T (p.Arg188Cys)	TMEM121B (R188C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178506	NM_031890.4(TMEM121B):c.548G>A (p.Arg183His)	TMEM121B (R183H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178505	NM_031890.4(TMEM121B):c.527G>A (p.Gly176Asp)	TMEM121B (G176D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602657	NM_031890.4(TMEM121B):c.508C>T (p.Pro170Ser)	TMEM121B (P170S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3178504	NM_031890.4(TMEM121B):c.485C>T (p.Thr162Ile)	TMEM121B (T162I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178503	NM_031890.4(TMEM121B):c.478A>G (p.Thr160Ala)	TMEM121B (T160A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178502	NM_031890.4(TMEM121B):c.463G>T (p.Gly155Trp)	TMEM121B (G155W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178501	NM_031890.4(TMEM121B):c.457T>G (p.Ser153Ala)	TMEM121B (S153A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178500	NM_031890.4(TMEM121B):c.380C>T (p.Thr127Ile)	TMEM121B (T127I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178499	NM_031890.4(TMEM121B):c.278C>A (p.Ala93Asp)	TMEM121B (A93D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178498	NM_031890.4(TMEM121B):c.202C>T (p.Pro68Ser)	TMEM121B (P68S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178497	NM_031890.4(TMEM121B):c.196G>T (p.Gly66Cys)	TMEM121B (G66C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474075	NM_031890.4(TMEM121B):c.196G>A (p.Gly66Ser)	TMEM121B (G66S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178496	NM_031890.4(TMEM121B):c.187G>T (p.Gly63Trp)	TMEM121B (G63W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178517	NM_031890.4(TMEM121B):c.97C>G (p.Arg33Gly)	TMEM121B (R33G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178514	NM_031890.4(TMEM121B):c.80T>G (p.Leu27Arg)	TMEM121B (L27R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178512	NM_031890.4(TMEM121B):c.73G>A (p.Ala25Thr)	TMEM121B (A25T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178510	NM_031890.4(TMEM121B):c.62C>T (p.Pro21Leu)	TMEM121B (P21L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 43