TMED6[gene] - ClinVar

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

Search results

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059420, LOC130059421 +869 more	Copy number gain	See cases	GPathogenic
Select item 59495	GRCh38/hg38 16q22.1-23.1(chr16:68698941-74353205)x1	AARS1, AP1G1 +263 more	Copy number loss	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	LOC132090408, LOC132090409 +572 more	Copy number gain	See cases	GPathogenic
Select item 147385	GRCh38/hg38 16q22.1(chr16:69144650-70257882)x1	AARS1, CLEC18A +57 more	Copy number loss	See cases	GUncertain significance
Select item 3178367	NM_144676.4(TMED6):c.682A>G (p.Asn228Asp)	TMED6 (N228D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352858	NM_144676.4(TMED6):c.674G>A (p.Arg225His)	TMED6 (R225H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178365	NM_144676.4(TMED6):c.526A>G (p.Met176Val)	TMED6 (M176V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519232	NM_144676.4(TMED6):c.515A>G (p.Asn172Ser)	TMED6 (N172S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178364	NM_144676.4(TMED6):c.380T>C (p.Phe127Ser)	TMED6 (F127S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391046	NM_144676.4(TMED6):c.311G>A (p.Gly104Asp)	TMED6 (G104D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178363	NM_144676.4(TMED6):c.301G>T (p.Gly101Cys)	TMED6 (G101C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341573	NM_144676.4(TMED6):c.278G>A (p.Gly93Glu)	TMED6 (G93E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178362	NM_144676.4(TMED6):c.250G>A (p.Val84Ile)	TMED6 (V84I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3178361	NM_144676.4(TMED6):c.226G>A (p.Val76Met)	TMED6 (V76M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227341	NM_144676.4(TMED6):c.155G>A (p.Gly52Asp)	TMED6 (G52D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219210	NM_144676.4(TMED6):c.138C>G (p.Ile46Met)	TMED6 (I46M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607336	NM_144676.4(TMED6):c.113G>A (p.Gly38Glu)	TMED6 (G38E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178360	NM_144676.4(TMED6):c.100C>T (p.Pro34Ser)	TMED6 (P34S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326606	NM_144676.4(TMED6):c.65A>C (p.Gln22Pro)	TMED6 (Q22P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178366	NM_144676.4(TMED6):c.5C>G (p.Ser2Cys)	TMED6 (S2C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3255478	NC_000016.9:g.(?_48799549)_(70756330_?)dup	PRMT7, PRSS54 +195 more	Duplication	Chromosome 16q12 duplication syndrome	GLikely pathogenic
Select item 3243300	NC_000016.9:g.(?_68679283)_(72146396_?)del	AARS1, AP1G1 +51 more	Deletion	Immunodeficiency	GUncertain significance
Select item 3063446	GRCh37/hg19 16q22.1(chr16:67583728-69977397)x3	ACD, C16orf86 +48 more	Copy number gain	not specified	GUncertain significance
Select item 2684810	GRCh37/hg19 16q22.1(chr16:68292285-69424236)x3	CDH1, CDH3 +17 more	Copy number gain	not provided	GUncertain significance
Select item 2423664	NC_000016.9:g.(?_65821800)_(72146396_?)del	CYB5B, DDX19A +127 more	Deletion	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 1706519	GRCh37/hg19 16q22.1-23.1(chr16:68971067-74823560)x1	TXNL4B, UTP4 +59 more	Copy number loss	See cases	GPathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 1526514	GRCh37/hg19 16q22.1(chr16:68850677-69377553)	SNTB2, CDH1 +9 more	Copy number gain	not specified	GUncertain significance
Select item 980688	GRCh37/hg19 16q22.1(chr16:69369131-69942990)x3	NIP7, NFAT5 +7 more	Copy number gain	not provided	GUncertain significance
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 815823	GRCh37/hg19 16q21-22.1(chr16:65669673-70180183)x1	EXOC3L1, ESRP2 +95 more	Copy number loss	not provided	GPathogenic
Select item 564331	GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3	AARS1, ACD +194 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	CA7, COG8 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	KCTD19, KIAA0513 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442754	GRCh37/hg19 16q22.1(chr16:69369131-69941373)x3	COG8, CYB5B +7 more	Copy number gain	See cases	GUncertain significance
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ACD +292 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 395368	GRCh37/hg19 16q22.1(chr16:69373754-69377422)x3	NIP7, TMED6	Copy number gain	See cases	GUncertain significance
Select item 221523	GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1	AARS1, ACD +174 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	ATXN1L, B3GNT9 +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	ADGRG5, CFAP263 +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 51