ClinVar for Gene (Select 55002) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 183

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3178313	NM_017905.6(TMCO3):c.701G>A (p.Arg234Gln)	TMCO3 (R234Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3178312	NM_017905.6(TMCO3):c.245T>C (p.Val82Ala)	TMCO3 (V82A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3178311	NM_017905.6(TMCO3):c.1853C>T (p.Ala618Val)	TMCO3 (A554V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3178310	NM_017905.6(TMCO3):c.1753T>C (p.Ser585Pro)	TMCO3 (V419A +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3178309	NM_017905.6(TMCO3):c.1709C>T (p.Thr570Met)	TMCO3 (T570M +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3178308	NM_017905.6(TMCO3):c.1697A>G (p.His566Arg)	TMCO3 (H502R +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3178307	NM_017905.6(TMCO3):c.1637C>T (p.Thr546Ile)	TMCO3 (T482I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3178306	NM_017905.6(TMCO3):c.1403C>T (p.Ala468Val)	TMCO3 (A468V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178304	NM_017905.6(TMCO3):c.139C>T (p.Arg47Trp)	TMCO3 (R47W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178303	NM_017905.6(TMCO3):c.1310C>T (p.Thr437Ile)	TMCO3 (T373I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3178302	NM_017905.6(TMCO3):c.130A>G (p.Met44Val)	TMCO3 (M44V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178301	NM_017905.6(TMCO3):c.1300G>A (p.Val434Ile)	TMCO3 (V434I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3178300	NM_017905.6(TMCO3):c.1120C>G (p.Arg374Gly)	TMCO3 (R374G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3178299	NM_017905.6(TMCO3):c.110G>A (p.Arg37His)	TMCO3 (R37H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148913	GRCh37/hg19 13q34(chr13:112071769-115107733)x3	ADPRHL1, ATP11A +23 more	Copy number gain	not provided	GUncertain significance
Select item 3063309	GRCh37/hg19 13q31.1-34(chr13:84669397-115107733)x1	ABCC4, ABHD13 +97 more	Copy number loss	not specified	GPathogenic
Select item 3063307	GRCh37/hg19 13q33.1-34(chr13:102421732-115107733)x1	ABHD13, ADPRHL1 +54 more	Copy number loss	not specified	GPathogenic
Select item 3063302	GRCh37/hg19 13q33.2-34(chr13:106430837-114763645)x3	ABHD13, ADPRHL1 +39 more	Copy number gain	not specified	GUncertain significance
Select item 3063300	GRCh37/hg19 13q33.1-34(chr13:103149209-115107733)x1	ABHD13, ADPRHL1 +53 more	Copy number loss	not specified	GPathogenic
Select item 3063294	GRCh37/hg19 13q31.1-34(chr13:82876219-115107733)x3	ABCC4, ABHD13 +98 more	Copy number gain	not specified	GPathogenic
Select item 3063291	GRCh37/hg19 13q33.2-34(chr13:105761074-115107733)x1	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 3063290	GRCh37/hg19 13q33.1-34(chr13:104389334-115107733)x1	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 3063287	GRCh37/hg19 13q33.2-34(chr13:106591678-115107733)x1	ABHD13, ADPRHL1 +42 more	Copy number loss	not specified	GPathogenic
Select item 3024583	GRCh37/hg19 13q34(chr13:113158346-115091756)x1	MCF2L, TFDP1 +21 more	Copy number loss	not provided	GPathogenic
Select item 2685475	GRCh37/hg19 13q31.1-34(chr13:82131211-115107733)x1	ABCC4, ABHD13 +98 more	Copy number loss	not provided	GPathogenic
Select item 2684705	GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3	ABCC4, ABHD13 +121 more	Copy number gain	not provided	GPathogenic
Select item 2684703	GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3	ABCC4, ABHD13 +129 more	Copy number gain	not provided	GPathogenic
Select item 2644012	NM_017905.6(TMCO3):c.1581C>G (p.Phe527Leu)	TMCO3 (P426A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2644011	NM_017905.6(TMCO3):c.243C>T (p.Asp81=)	TMCO3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2644010	NM_017905.6(TMCO3):c.143A>G (p.Gln48Arg)	TMCO3 (Q48R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2624011	NM_017905.6(TMCO3):c.2012C>G (p.Pro671Arg)	TMCO3 (P607R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2604927	NM_017905.6(TMCO3):c.682A>G (p.Lys228Glu)	TMCO3 (K228E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2579202	GRCh38/hg38 13q33.3-34(chr13:106425676-114326445)x1	LOC130010152, LOC130010153 +312 more	Copy number loss	Chromosome 13q33-q34 deletion syndrome	GPathogenic
Select item 2549611	NM_017905.6(TMCO3):c.647C>T (p.Ala216Val)	TMCO3 (A216V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2542471	NM_017905.6(TMCO3):c.1796C>T (p.Ser599Phe)	TMCO3 (S535F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2534012	NM_017905.6(TMCO3):c.713A>G (p.Asp238Gly)	TMCO3 (D238G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2525496	NM_017905.6(TMCO3):c.1154C>A (p.Thr385Lys)	TMCO3 (T385K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2514183	NM_017905.6(TMCO3):c.59T>G (p.Val20Gly)	TMCO3 (V20G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512808	NM_017905.6(TMCO3):c.1615G>A (p.Val539Met)	TMCO3 (V539M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2512144	NM_017905.6(TMCO3):c.1672G>A (p.Val558Ile)	TMCO3 (R456H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2508085	NM_017905.6(TMCO3):c.1288C>G (p.Leu430Val)	TMCO3 (L366V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2481244	NM_017905.6(TMCO3):c.1852G>T (p.Ala618Ser)	TMCO3 (C591F +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473180	NM_017905.6(TMCO3):c.1414C>G (p.Leu472Val)	TMCO3 (S370C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383298	NM_017905.6(TMCO3):c.1406C>T (p.Ala469Val)	TMCO3 (A405V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382653	NM_017905.6(TMCO3):c.549T>G (p.Ile183Met)	TMCO3 (I183M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374437	NM_017905.6(TMCO3):c.1396T>C (p.Ser466Pro)	TMCO3 (F364S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369642	NM_017905.6(TMCO3):c.893G>T (p.Gly298Val)	TMCO3 (G298V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368235	NM_017905.6(TMCO3):c.1210C>T (p.Arg404Trp)	TMCO3 (R340W +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2359854	NM_017905.6(TMCO3):c.1922T>A (p.Val641Glu)	TMCO3 (V577E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2354317	NM_017905.6(TMCO3):c.1228G>A (p.Asp410Asn)	TMCO3 (D410N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2353411	NM_017905.6(TMCO3):c.1133C>T (p.Thr378Met)	TMCO3 (T378M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2336371	NM_017905.6(TMCO3):c.149T>C (p.Val50Ala)	TMCO3 (V50A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327488	NM_017905.6(TMCO3):c.871A>G (p.Ile291Val)	TMCO3 (I291V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325570	NM_017905.6(TMCO3):c.1597G>T (p.Val533Phe)	TMCO3 (R431L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293720	NM_017905.6(TMCO3):c.634G>T (p.Val212Phe)	TMCO3 (V212F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2291499	NM_017905.6(TMCO3):c.1527C>G (p.Phe509Leu)	TMCO3 (F509L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272505	NM_017905.6(TMCO3):c.613G>C (p.Asp205His)	TMCO3 (D205H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248855	NM_017905.6(TMCO3):c.1147A>G (p.Ile383Val)	TMCO3 (I319V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2245929	NM_017905.6(TMCO3):c.284C>T (p.Thr95Met)	TMCO3 (T95M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242175	NM_017905.6(TMCO3):c.1159C>G (p.Leu387Val)	TMCO3 (L387V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2239910	NM_017905.6(TMCO3):c.741C>G (p.Asp247Glu)	TMCO3 (D247E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2239143	NM_017905.6(TMCO3):c.404G>T (p.Ser135Ile)	TMCO3 (S135I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233963	NM_017905.6(TMCO3):c.376A>C (p.Lys126Gln)	TMCO3 (K126Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233883	NM_017905.6(TMCO3):c.274C>G (p.Gln92Glu)	TMCO3 (Q92E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2230227	NM_017905.6(TMCO3):c.693A>G (p.Ile231Met)	TMCO3 (I231M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2224368	NM_017905.6(TMCO3):c.23T>G (p.Phe8Cys)	TMCO3 (F8C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221767	NM_017905.6(TMCO3):c.130A>T (p.Met44Leu)	TMCO3 (M44L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219125	NM_017905.6(TMCO3):c.1538C>T (p.Thr513Met)	TMCO3 (T513M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216883	NM_017905.6(TMCO3):c.1198A>G (p.Met400Val)	TMCO3 (M336V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2214402	NM_017905.6(TMCO3):c.1120C>T (p.Arg374Trp)	TMCO3 (R310W +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2205346	NM_017905.6(TMCO3):c.1141G>A (p.Val381Ile)	TMCO3 (V317I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1809298	GRCh37/hg19 13q32.3-34(chr13:99421603-115107733)x3	ABHD13, ADPRHL1 +67 more	Copy number gain	not provided	GPathogenic
Select item 1808983	GRCh37/hg19 13q32.1-34(chr13:97142120-115107733)x1	ABHD13, ADPRHL1 +76 more	Copy number loss	not provided	GPathogenic
Select item 1807731	GRCh37/hg19 13q22.1-34(chr13:75268539-115107733)x3	ABCC4, ABHD13 +116 more	Copy number gain	not provided	GPathogenic
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	CCDC169-SOHLH2, CCDC70 +332 more	Copy number gain	not provided	GPathogenic
Select item 1707446	GRCh37/hg19 13q34(chr13:114086431-114753211)x3	ADPRHL1, ATP4B +7 more	Copy number gain	See cases	GUncertain significance
Select item 1707439	GRCh37/hg19 13q31.2-34(chr13:89490345-115062235)x3	ABCC4, ABHD13 +93 more	Copy number gain	See cases	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	PCID2, PCOTH +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1703542	GRCh37/hg19 13q34(chr13:110428062-115107733)	ADPRHL1, ANKRD10 +35 more	Copy number loss	Neurodevelopmental delay	GPathogenic
Select item 1527798	GRCh37/hg19 13q33.2-34(chr13:106450862-115107733)	ABHD13, ADPRHL1 +42 more	Copy number loss	not specified	GPathogenic
Select item 1527797	GRCh37/hg19 13q33.2-34(chr13:106056749-115107733)	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 1527796	GRCh37/hg19 13q33.1-34(chr13:104545892-115107733)	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 1527791	GRCh37/hg19 13q32.3-34(chr13:100258328-115107733)	ABHD13, ADPRHL1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1527788	GRCh37/hg19 13q31.2-34(chr13:88073140-115107733)	EFNB2, ERCC5 +96 more	Copy number loss	not specified	GPathogenic
Select item 1527787	GRCh37/hg19 13q31.1-34(chr13:85037147-115107733)	DCUN1D2, DNAJC3 +97 more	Copy number gain	not specified	GPathogenic
Select item 1527786	GRCh37/hg19 13q31.1-34(chr13:79370012-115107733)	F10, F7 +101 more	Copy number loss	not specified	GPathogenic
Select item 1527785	GRCh37/hg19 13q22.3-34(chr13:78514567-115107733)	ITGBL1, LAMP1 +104 more	Copy number gain	not specified	GPathogenic
Select item 1527777	GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)	ABCC4, ABHD13 +129 more	Copy number gain	not specified	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, DNAJC15 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	ZMYM5, SPATA13 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ARGLU1, FBXL3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1340720	GRCh37/hg19 13q34(chr13:113626234-115107733)x3	ADPRHL1, ATP4B +18 more	Copy number gain	not provided	GLikely pathogenic
Select item 1340694	GRCh37/hg19 13q34(chr13:114115436-114195074)x1	DCUN1D2, TMCO3	Copy number loss	not provided	GUncertain significance
Select item 1338738	NC_000013.11:g.109179481_114327244del	ADPRHL1, ANKRD10 +261 more	Deletion	Factor X deficiency +1 more	GPathogenic
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	MRPL57, MRPS31 +332 more	Copy number gain	See cases	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	DGKH, DHRS12 +332 more	Copy number gain	See cases	GPathogenic
Select item 981484	Single allele	ABHD13, ADPRHL1 +55 more	Deletion	not provided	GPathogenic
Select item 979997	GRCh37/hg19 13q34(chr13:114112374-114195074)x1	DCUN1D2, TMCO3	Copy number loss	not provided	GUncertain significance
Select item 979996	GRCh37/hg19 13q34(chr13:112069981-115107733)x3	ATP11AUN, UPF3A +23 more	Copy number gain	not provided	GLikely pathogenic
Select item 979994	GRCh37/hg19 13q33.2-34(chr13:106256198-115107733)x1	DCUN1D2, TMEM255B +42 more	Copy number loss	not provided	GPathogenic

<< First< Prev

Page of 2