TANGO6[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 116

<< First< Prev

Page of 2

	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 59994	GRCh38/hg38 16q22.1(chr16:68611956-68888428)x3	CDH1, CDH3 +39 more	Copy number gain	See cases	GUncertain significance
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 3173766	NM_024562.2(TANGO6):c.50T>G (p.Leu17Arg)	LOC130059299, TANGO6 (L17R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334153	NM_024562.2(TANGO6):c.86G>A (p.Ser29Asn)	LOC130059299, TANGO6 (S29N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552958	NM_024562.2(TANGO6):c.134T>G (p.Val45Gly)	TANGO6 (V45G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173755	NM_024562.2(TANGO6):c.208C>A (p.Leu70Met)	TANGO6 (L70M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206994	NM_024562.2(TANGO6):c.241G>T (p.Ala81Ser)	TANGO6 (A81S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324366	NM_024562.2(TANGO6):c.332G>A (p.Arg111His)	TANGO6 (R111H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2549434	NM_024562.2(TANGO6):c.399C>G (p.Ser133Arg)	TANGO6 (S133R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520880	NM_024562.2(TANGO6):c.493G>T (p.Val165Phe)	TANGO6 (V165F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399879	NM_024562.2(TANGO6):c.515G>A (p.Arg172Lys)	TANGO6 (R172K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597174	NM_024562.2(TANGO6):c.532G>A (p.Val178Ile)	TANGO6 (V178I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1801762	NM_024562.2(TANGO6):c.659T>C (p.Phe220Ser)	TANGO6 (F220S)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 3173767	NM_024562.2(TANGO6):c.670G>A (p.Ala224Thr)	TANGO6 (A224T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204053	NM_024562.2(TANGO6):c.733G>A (p.Glu245Lys)	TANGO6 (E245K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173768	NM_024562.2(TANGO6):c.772G>T (p.Ala258Ser)	TANGO6 (A258S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232204	NM_024562.2(TANGO6):c.772G>A (p.Ala258Thr)	TANGO6 (A258T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173769	NM_024562.2(TANGO6):c.844C>T (p.Pro282Ser)	TANGO6 (P282S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393952	NM_024562.2(TANGO6):c.905G>A (p.Arg302Gln)	TANGO6 (R302Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605569	NM_024562.2(TANGO6):c.947C>G (p.Pro316Arg)	TANGO6 (P316R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280554	NM_024562.2(TANGO6):c.970C>T (p.Arg324Trp)	TANGO6 (R324W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457404	NM_024562.2(TANGO6):c.995C>T (p.Ala332Val)	TANGO6 (A332V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408210	NM_024562.2(TANGO6):c.1078T>G (p.Cys360Gly)	TANGO6 (C360G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324368	NM_024562.2(TANGO6):c.1195A>G (p.Thr399Ala)	TANGO6 (T399A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294757	NM_024562.2(TANGO6):c.1198A>G (p.Thr400Ala)	TANGO6 (T400A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218791	NM_024562.2(TANGO6):c.1205T>C (p.Ile402Thr)	TANGO6 (I402T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324371	NM_024562.2(TANGO6):c.1276C>G (p.Arg426Gly)	TANGO6 (R426G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324370	NM_024562.2(TANGO6):c.1319C>T (p.Pro440Leu)	TANGO6 (P440L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324374	NM_024562.2(TANGO6):c.1549A>G (p.Ile517Val)	TANGO6 (I517V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173752	NM_024562.2(TANGO6):c.1565G>T (p.Gly522Val)	TANGO6 (G522V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220291	NM_024562.2(TANGO6):c.1639A>G (p.Ile547Val)	TANGO6 (I547V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470337	NM_024562.2(TANGO6):c.1663A>C (p.Ile555Leu)	TANGO6 (I555L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569001	NM_024562.2(TANGO6):c.1669G>T (p.Asp557Tyr)	TANGO6 (D557Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293195	NM_024562.2(TANGO6):c.1720C>T (p.Arg574Trp)	TANGO6 (R574W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218792	NM_024562.2(TANGO6):c.1763G>T (p.Cys588Phe)	TANGO6 (C588F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173753	NM_024562.2(TANGO6):c.1811A>C (p.His604Pro)	TANGO6 (H604P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230489	NM_024562.2(TANGO6):c.1811A>G (p.His604Arg)	TANGO6 (H604R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275225	NM_024562.2(TANGO6):c.1850C>G (p.Pro617Arg)	TANGO6 (P617R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292466	NM_024562.2(TANGO6):c.1901T>C (p.Val634Ala)	TANGO6 (V634A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324375	NM_024562.2(TANGO6):c.1903G>A (p.Glu635Lys)	TANGO6 (E635K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238168	NM_024562.2(TANGO6):c.2008G>A (p.Ala670Thr)	TANGO6 (A670T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284837	NM_024562.2(TANGO6):c.2024G>C (p.Arg675Thr)	TANGO6 (R675T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526699	NM_024562.2(TANGO6):c.2044C>T (p.His682Tyr)	TANGO6 (H682Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173754	NM_024562.2(TANGO6):c.2075C>T (p.Thr692Met)	TANGO6 (T692M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402550	NM_024562.2(TANGO6):c.2083A>T (p.Met695Leu)	TANGO6 (M695L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173756	NM_024562.2(TANGO6):c.2204C>T (p.Pro735Leu)	TANGO6 (P735L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367601	NM_024562.2(TANGO6):c.2221G>A (p.Ala741Thr)	TANGO6 (A741T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173757	NM_024562.2(TANGO6):c.2242A>G (p.Ile748Val)	TANGO6 (I748V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173758	NM_024562.2(TANGO6):c.2252A>G (p.His751Arg)	TANGO6 (H751R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549433	NM_024562.2(TANGO6):c.2345C>T (p.Thr782Ile)	TANGO6 (T782I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324372	NM_024562.2(TANGO6):c.2374C>T (p.His792Tyr)	TANGO6 (H792Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324369	NM_024562.2(TANGO6):c.2399G>C (p.Ser800Thr)	TANGO6 (S800T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461037	NM_024562.2(TANGO6):c.2434A>G (p.Asn812Asp)	TANGO6 (N812D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395226	NM_024562.2(TANGO6):c.2546C>T (p.Pro849Leu)	TANGO6 (P849L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324373	NM_024562.2(TANGO6):c.2579C>T (p.Thr860Ile)	TANGO6 (T860I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247558	NM_024562.2(TANGO6):c.2674A>T (p.Thr892Ser)	TANGO6 (T892S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251602	NM_024562.2(TANGO6):c.2696T>A (p.Ile899Asn)	TANGO6 (I899N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 147207	GRCh38/hg38 16q22.1(chr16:68937032-69254118)x3	CHTF8, DERPC +9 more	Copy number gain	See cases	GUncertain significance
Select item 3173760	NM_024562.2(TANGO6):c.2722G>A (p.Val908Ile)	TANGO6 (V908I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480345	NM_024562.2(TANGO6):c.2744C>T (p.Pro915Leu)	TANGO6 (P915L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2266264	NM_024562.2(TANGO6):c.2823G>T (p.Met941Ile)	TANGO6 (M941I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546454	NM_024562.2(TANGO6):c.2830G>A (p.Val944Ile)	TANGO6 (V944I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284022	NM_024562.2(TANGO6):c.2874G>C (p.Leu958Phe)	TANGO6 (L958F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517102	NM_024562.2(TANGO6):c.2917C>T (p.His973Tyr)	TANGO6 (H973Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173761	NM_024562.2(TANGO6):c.2930G>C (p.Ser977Thr)	TANGO6 (S977T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173762	NM_024562.2(TANGO6):c.2939A>T (p.Asn980Ile)	TANGO6 (N980I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173763	NM_024562.2(TANGO6):c.3060A>G (p.Ile1020Met)	TANGO6 (I1020M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338136	NM_024562.2(TANGO6):c.3082C>T (p.Arg1028Trp)	TANGO6 (R1028W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593174	NM_024562.2(TANGO6):c.3083G>A (p.Arg1028Gln)	TANGO6 (R1028Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2301431	NM_024562.2(TANGO6):c.3133C>T (p.Leu1045Phe)	HAS3, TANGO6 (L1045F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321272	NM_024562.2(TANGO6):c.3134T>C (p.Leu1045Pro)	HAS3, TANGO6 (L1045P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3324376	NM_024562.2(TANGO6):c.3172G>A (p.Asp1058Asn)	HAS3, TANGO6 (D1058N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173764	NM_024562.2(TANGO6):c.3178G>A (p.Val1060Met)	HAS3, TANGO6 (V1060M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491245	NM_024562.2(TANGO6):c.3238C>A (p.Leu1080Met)	HAS3, TANGO6 (L1080M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487235	NM_024562.2(TANGO6):c.3239T>C (p.Leu1080Pro)	HAS3, TANGO6 (L1080P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311132	NM_024562.2(TANGO6):c.3281C>T (p.Pro1094Leu)	HAS3, TANGO6 (P1094L)	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	AP1G1, AARS1 +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	AARS1, ACD +127 more	Deletion	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 1809402	GRCh37/hg19 16q22.1(chr16:68780366-69056919)x3	CDH1, TANGO6	Copy number gain	not provided	GUncertain significance
Select item 1807851	GRCh37/hg19 16q22.1(chr16:68326200-68970975)x3	CDH1, CDH3 +6 more	Copy number gain	not provided	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 1340277	GRCh37/hg19 16q22.1(chr16:68684521-68905837)x3	CDH1, CDH3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 980687	GRCh37/hg19 16q22.1(chr16:68658776-68937123)x3	CDH1, TANGO6 +1 more	Copy number gain	not provided	GUncertain significance
Select item 980685	GRCh37/hg19 16q22.1(chr16:68689253-69168290)x3	HAS3, CDH3 +4 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 832134	NC_000016.10:g.(?_68645380)_(68867220_?)dup	CDH1, CDH3 +1 more	Duplication	not provided	GUncertain significance

<< First< Prev

Page of 2