ClinVar for Gene (Select 55863) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 124

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3380048	NM_018480.7(TMEM126B):c.510G>T (p.Lys170Asn)	TMEM126B (K124N +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3375628	NM_018480.7(TMEM126B):c.204-3T>A	TMEM126B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3340986	NM_018480.7(TMEM126B):c.227C>T (p.Ala76Val)	TMEM126B (A30V +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3326692	NM_018480.7(TMEM126B):c.10T>G (p.Phe4Val)	TMEM126B (F4V)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3253245	NM_018480.7(TMEM126B):c.32A>C (p.Lys11Thr)	TMEM126B (K11T +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3178533	NM_018480.7(TMEM126B):c.503C>A (p.Ala168Glu)	TMEM126B (A138E +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063999	NC_000011.9:g.(?_85339636)_(85347581_?)dup	TMEM126B	Duplication	not specified	GUncertain significance
Select item 3054176	NM_018480.7(TMEM126B):c.648T>C (p.Tyr216=)	TMEM126B	Single nucleotide variant (synonymous variant +1 more)	TMEM126B-related disorder	GLikely benign
Select item 3052900	NM_018480.7(TMEM126B):c.204-5A>G	TMEM126B	Single nucleotide variant (intron variant)	TMEM126B-related disorder	GLikely benign
Select item 2987183	NM_018480.7(TMEM126B):c.204G>T (p.Met68Ile)	TMEM126B (M48I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2957668	NM_018480.7(TMEM126B):c.82-5del	TMEM126B	Deletion (intron variant)	not provided	GBenign
Select item 2920436	NM_018480.7(TMEM126B):c.497G>A (p.Arg166His)	TMEM126B (R146H +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2853839	NM_018480.7(TMEM126B):c.432C>T (p.Ser144=)	TMEM126B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2720809	NM_018480.7(TMEM126B):c.373T>C (p.Phe125Leu)	TMEM126B (F79L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2720320	NM_018480.7(TMEM126B):c.168C>T (p.Ile56=)	TMEM126B	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2642239	NM_018480.7(TMEM126B):c.169A>C (p.Ile57Leu)	TMEM126B (I27L +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2630644	NM_018480.7(TMEM126B):c.290dup (p.Lys98fs)	TMEM126B (K52fs +4 more)	Duplication (frameshift variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 29 +1 more	GLikely pathogenic
Select item 2571766	NM_018480.7(TMEM126B):c.664A>C (p.Thr222Pro)	TMEM126B (T147P +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2554890	NM_018480.7(TMEM126B):c.352A>G (p.Thr118Ala)	TMEM126B (T72A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2546457	NM_018480.7(TMEM126B):c.262T>C (p.Phe88Leu)	TMEM126B (F68L +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2499328	NM_018480.7(TMEM126B):c.307G>A (p.Ala103Thr)	TMEM126B (A103T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2499185	NM_018480.7(TMEM126B):c.412G>A (p.Glu138Lys)	TMEM126B (E108K +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2485144	NM_018480.7(TMEM126B):c.317C>T (p.Thr106Ile)	TMEM126B (T106I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2427028	NC_000011.9:g.(?_85339652)_(85367545_?)dup	TMEM126A, TMEM126B	Duplication	not provided	GUncertain significance
Select item 2427027	NC_000011.9:g.(?_85339652)_(86666127_?)del	CCDC81, CCDC83 +11 more	Deletion	not provided	GPathogenic
Select item 2413093	NM_018480.7(TMEM126B):c.463T>C (p.Tyr155His)	TMEM126B (Y109H +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2344727	NM_018480.7(TMEM126B):c.332C>T (p.Ala111Val)	TMEM126B (A65V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2290196	NM_018480.7(TMEM126B):c.191T>G (p.Leu64Arg)	TMEM126B (L64R +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2286406	NM_018480.7(TMEM126B):c.65C>T (p.Thr22Ile)	LOC130006548, TMEM126B (T22I)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2266307	NM_018480.7(TMEM126B):c.680T>C (p.Ile227Thr)	TMEM126B (I207T +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2214325	NM_018480.7(TMEM126B):c.181T>G (p.Phe61Val)	TMEM126B (F41V +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2182477	NM_018480.7(TMEM126B):c.321T>C (p.Tyr107=)	TMEM126B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2182182	NM_018480.7(TMEM126B):c.440T>C (p.Ile147Thr)	TMEM126B (I127T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2175845	NM_018480.7(TMEM126B):c.473C>G (p.Ser158Cys)	TMEM126B (S138C +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2175844	NM_018480.7(TMEM126B):c.215T>C (p.Ile72Thr)	TMEM126B (I72T +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2168674	NM_018480.7(TMEM126B):c.15G>T (p.Gly5=)	TMEM126B	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2158200	NM_018480.7(TMEM126B):c.509+2dup	TMEM126B	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 2153373	NM_018480.7(TMEM126B):c.203+2T>C	TMEM126B	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 2152794	NM_018480.7(TMEM126B):c.587T>G (p.Leu196Ter)	TMEM126B (L150* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2095260	NM_018480.7(TMEM126B):c.585dup (p.Leu196fs)	TMEM126B (L150fs +4 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2077431	NM_018480.7(TMEM126B):c.626T>C (p.Ile209Thr)	TMEM126B (I163T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2072804	NM_018480.7(TMEM126B):c.77_81del (p.Pro26fs)	LOC130006548, TMEM126B (P21fs +1 more)	Deletion (5 prime UTR variant +2 more)	not provided	GPathogenic
Select item 2037841	NM_018480.7(TMEM126B):c.161T>C (p.Ile54Thr)	TMEM126B (I24T +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2029474	NM_018480.7(TMEM126B):c.398-11T>C	TMEM126B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2022487	NM_018480.7(TMEM126B):c.398-10T>C	TMEM126B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2015211	NM_018480.7(TMEM126B):c.84T>A (p.Val28=)	TMEM126B	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1995686	NM_018480.7(TMEM126B):c.58G>C (p.Val20Leu)	LOC130006548, TMEM126B (V20L)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1976116	NM_018480.7(TMEM126B):c.509+16del	TMEM126B	Deletion (intron variant)	not provided	GBenign
Select item 1955936	NM_018480.7(TMEM126B):c.675A>G (p.Lys225=)	TMEM126B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1953147	NM_018480.7(TMEM126B):c.187del (p.Tyr63fs)	TMEM126B (Y43fs +2 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 1949354	NM_018480.7(TMEM126B):c.357T>G (p.Val119=)	TMEM126B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1937624	NM_018480.7(TMEM126B):c.247G>A (p.Gly83Ser)	TMEM126B (G37S +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1932928	NM_018480.7(TMEM126B):c.510-17C>T	TMEM126B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1919566	NM_018480.7(TMEM126B):c.530C>T (p.Pro177Leu)	TMEM126B (P157L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1917430	NM_018480.7(TMEM126B):c.509+21_509+23del	TMEM126B	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1913900	NM_018480.7(TMEM126B):c.81+18G>A	TMEM126B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1901073	NM_018480.7(TMEM126B):c.188A>G (p.Tyr63Cys)	TMEM126B (Y33C +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1809349	GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1	AMOTL1, ANGPTL5 +93 more	Copy number loss	not provided	GPathogenic
Select item 1808656	GRCh37/hg19 11q14.1-14.3(chr11:80562738-88663067)x1	ANKRD42, CCDC81 +23 more	Copy number loss	not provided	GPathogenic
Select item 1717366	NM_018480.7(TMEM126B):c.98C>G (p.Ala33Gly)	TMEM126B (A13G +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1716232	NM_018480.7(TMEM126B):c.70G>A (p.Glu24Lys)	LOC130006548, TMEM126B (E24K)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1617163	NM_018480.7(TMEM126B):c.335C>T (p.Thr112Ile)	TMEM126B (T112I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1570112	NM_018480.7(TMEM126B):c.228G>A (p.Ala76=)	TMEM126B (D36N)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1527657	GRCh37/hg19 11q14.1-14.2(chr11:85324893-85757693)	CCDC83, CCDC89 +6 more	Copy number loss	not specified	GUncertain significance
Select item 1527656	GRCh37/hg19 11q14.1-21(chr11:84924674-93574799)	C11orf54, CCDC81 +39 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527655	GRCh37/hg19 11q14.1-21(chr11:80318996-96116221)	AMOTL1, ANKRD42 +66 more	Copy number loss	not specified	GPathogenic
Select item 1527654	GRCh37/hg19 11q14.1-22.1(chr11:77855209-98002445)	AMOTL1, ANKRD42 +72 more	Copy number loss	not specified	GPathogenic
Select item 1518268	NM_018480.7(TMEM126B):c.489_491del (p.Lys163del)	TMEM126B (K133del +4 more)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1486686	NM_018480.7(TMEM126B):c.133G>C (p.Asp45His)	TMEM126B (D15H +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1474741	NM_018480.7(TMEM126B):c.380T>C (p.Ile127Thr)	TMEM126B (I81T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1431700	NM_018480.7(TMEM126B):c.241del (p.Thr81fs)	TMEM126B (N40fs +4 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1419738	NM_018480.7(TMEM126B):c.496C>T (p.Arg166Cys)	TMEM126B (R91C +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1400840	NM_018480.7(TMEM126B):c.19G>C (p.Glu7Gln)	TMEM126B (M1I +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1394098	NM_018480.7(TMEM126B):c.466C>A (p.Pro156Thr)	TMEM126B (P126T +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1392636	NM_018480.7(TMEM126B):c.34C>T (p.Pro12Ser)	LOC130006548, TMEM126B (P12S)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1339485	NM_018480.7(TMEM126B):c.421_422del (p.Val141fs)	TMEM126B (V111fs +4 more)	Microsatellite (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1256970	NM_018480.7(TMEM126B):c.398-239dup	TMEM126B	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1224731	NM_018480.7(TMEM126B):c.*142G>A	TMEM126B	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1219849	NC_000011.10:g.85628257G>A	DLG2, LOC130006547 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1218019	NM_018480.7(TMEM126B):c.81+731G>A	TMEM126B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1210566	NM_018480.7(TMEM126B):c.398-80A>G	TMEM126B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209146	NC_000011.10:g.85628393C>A	TMEM126B	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 1208603	NM_018480.7(TMEM126B):c.397+222G>A	TMEM126B	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1205515	NM_018480.7(TMEM126B):c.203+70A>G	TMEM126B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203741	NM_018480.7(TMEM126B):c.125C>T (p.Ser42Phe)	TMEM126B (S12F +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1202470	NM_018480.7(TMEM126B):c.83T>C (p.Val28Ala)	TMEM126B (V28A +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GBenign/Likely benign
Select item 1194628	NM_018480.7(TMEM126B):c.397+245A>G	TMEM126B	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1191742	NM_018480.7(TMEM126B):c.688G>A (p.Glu230Lys)	TMEM126B (E155K +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1191389	NM_018480.7(TMEM126B):c.397+109A>G	TMEM126B	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1190235	NM_018480.7(TMEM126B):c.398-301C>T	TMEM126B	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1170036	NM_018480.7(TMEM126B):c.593C>T (p.Ala198Val)	TMEM126B (A123V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1087417	NM_018480.7(TMEM126B):c.498C>T (p.Arg166=)	TMEM126B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1064302	NC_000011.9:g.(?_85346691)_(85347273_?)dup	TMEM126B	Duplication	not provided	GUncertain significance
Select item 1033487	NM_018480.7(TMEM126B):c.589A>G (p.Met197Val)	TMEM126B (M151V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1032805	NM_018480.7(TMEM126B):c.320_321del (p.Tyr107fs)	TMEM126B (Y107fs +3 more)	Microsatellite (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 997635	NM_018480.7(TMEM126B):c.137del (p.Ala46fs)	TMEM126B (A16fs +2 more)	Deletion (frameshift variant +2 more)	Mitochondrial complex 1 deficiency, nuclear type 29 +1 more	GPathogenic
Select item 815449	GRCh37/hg19 11q14.1-14.3(chr11:84830143-92029933)x3	CCDC81, CCDC83 +29 more	Copy number gain	not provided	GPathogenic
Select item 815445	GRCh37/hg19 11q14.1-14.2(chr11:83530179-87059742)x1	TMEM126A, PRSS23 +13 more	Copy number loss	not provided	GPathogenic

<< First< Prev

Page of 2