TMEM80[gene] - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 154856	GRCh38/hg38 11p15.5(chr11:196855-2116185)x3	ANO9, AP2A2 +204 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	A-GAMMA3'E, ANO9 +388 more	Copy number gain	See cases	GPathogenic
Select item 57274	GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3	ANO9, AP2A2 +271 more	Copy number gain	See cases	GPathogenic
Select item 57258	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	LOC130005164, LOC130005165 +332 more	Copy number gain	See cases	GPathogenic
Select item 59748	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3	ANO9, AP2A2 +266 more	Copy number gain	See cases	GPathogenic
Select item 3024365	GRCh38/hg38 11p15.5(chr11:313988-723647)	LRRC56, MIR210 +59 more	Copy number loss	Autism spectrum disorder	GUncertain significance
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	ASCL2, BGLT3 +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic
Select item 2344764	NM_001042463.2(TMEM80):c.161G>A (p.Arg54Gln)	DEAF1, TMEM80 (R54Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3327185	NM_001042463.2(TMEM80):c.199C>G (p.Pro67Ala)	DEAF1, TMEM80 (P19A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3327183	NM_001042463.2(TMEM80):c.202G>A (p.Ala68Thr)	DEAF1, TMEM80 (A68T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2389860	NM_001042463.3(TMEM80):c.5C>T (p.Ala2Val)	DEAF1, TMEM80 (A2V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348330	NM_001042463.3(TMEM80):c.8C>T (p.Ala3Val)	DEAF1, TMEM80 (A3V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2641087	NM_001042463.3(TMEM80):c.9C>T (p.Ala3=)	DEAF1, TMEM80	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2641088	NM_001042463.3(TMEM80):c.80G>A (p.Gly27Glu)	DEAF1, TMEM80 (G27E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2313016	NM_001042463.3(TMEM80):c.118A>G (p.Met40Val)	DEAF1, TMEM80 (M40V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412496	NM_001042463.3(TMEM80):c.151C>T (p.Pro51Ser)	DEAF1, TMEM80 (P51S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373224	NM_001042463.3(TMEM80):c.157C>T (p.Arg53Cys)	DEAF1, TMEM80 (R53C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508340	NM_001042463.3(TMEM80):c.158G>A (p.Arg53His)	DEAF1, TMEM80 (R53H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2528437	NM_001042463.3(TMEM80):c.172G>C (p.Asp58His)	DEAF1, TMEM80 (D38H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301811	NM_001042463.3(TMEM80):c.202C>G (p.Leu68Val)	DEAF1, TMEM80 (L68V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213176	NM_001042463.3(TMEM80):c.268G>A (p.Ala90Thr)	DEAF1, TMEM80 (A107T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179659	NM_001042463.3(TMEM80):c.299T>A (p.Leu100His)	DEAF1, TMEM80 (L117H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226271	NM_001042463.3(TMEM80):c.322T>C (p.Trp108Arg)	DEAF1, TMEM80 (W88R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455624	NM_001042463.3(TMEM80):c.344C>T (p.Ala115Val)	DEAF1, TMEM80 (A115V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2589122	NM_001042463.3(TMEM80):c.352G>A (p.Ala118Thr)	DEAF1, TMEM80 (A98T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179660	NM_001042463.3(TMEM80):c.361G>A (p.Ala121Thr)	DEAF1, TMEM80 (A121T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345981	NM_001042463.3(TMEM80):c.365C>T (p.Thr122Met)	DEAF1, TMEM80 (T139M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328228	NM_001042463.3(TMEM80):c.394G>A (p.Val132Ile)	DEAF1, TMEM80 (V112I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2641089	NM_001367390.1(DEAF1):c.-438+2046C>T	DEAF1, TMEM80	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3244780	NC_000011.9:g.(?_691481)_(795006_?)dup	CEND1, DEAF1 +5 more	Duplication	not provided	GUncertain significance
Select item 3244591	NC_000011.9:g.(?_532636)_(824862_?)dup	EPS8L2, CDHR5 +20 more	Duplication	Costello syndrome	GUncertain significance
Select item 3244518	NC_000011.9:g.(?_216698)_(2906719_?)dup	ANO9, AP2A2 +77 more	Duplication	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 3063193	GRCh37/hg19 11p15.5(chr11:372929-762338)x3	HRAS, IRF7 +20 more	Copy number gain	not specified	GUncertain significance
Select item 2684632	GRCh37/hg19 11p15.5-15.4(chr11:192764-3362853)x3	CARS1, CD151 +89 more	Copy number gain	not provided	GPathogenic
Select item 2574690	GRCh37/hg19 11p15.5(chr11:268586-748873)	CDHR5, MIR210HG +26 more	Copy number loss	Beckwith-Wiedemann syndrome due to 11p15 microdeletion	GPathogenic
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	ANO9, AP2A2 +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 2426870	NC_000011.9:g.(?_644550)_(795006_?)dup	CEND1, DEAF1 +5 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2426546	NC_000011.9:g.(?_532636)_(819925_?)dup	CDHR5, CEND1 +20 more	Duplication	Neutral lipid storage myopathy	GUncertain significance
Select item 1808628	GRCh37/hg19 11p15.5(chr11:461373-2157956)x4	GATD1, IRF7 +52 more	Copy number gain	not provided	GPathogenic
Select item 1807629	GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	CAVIN3, CCKBR +205 more	Copy number gain	not provided	GPathogenic
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 1444884	NC_000011.9:g.(?_678674)_(838192_?)dup	CD151, CEND1 +10 more	Duplication	not provided	GUncertain significance
Select item 1421885	NC_000011.9:g.(?_216698)_(720766_?)dup	ANO9, B4GALNT4 +27 more	Duplication	Immunodeficiency 39	GUncertain significance
Select item 1341109	GRCh37/hg19 11p15.5(chr11:648556-1021236)x3	AP2A2, CD151 +15 more	Copy number gain	not provided	GUncertain significance
Select item 1339886	GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3	IFITM5, SIGIRR +137 more	Copy number gain	not provided	Gnot provided
Select item 1017523	NC_000011.9:g.(?_298501)_(4113028_?)dup	ANO9, AP2A2 +89 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1004798	NC_000011.9:g.(?_612625)_(2193840_?)dup	AP2A2, BRSK2 +45 more	Duplication	Immunodeficiency 39 +1 more	GUncertain significance
Select item 983191	GRCh37/hg19 11p15.5-15.4(chr11:230615-4851537)x3	ANO9, AP2A2 +109 more	Copy number gain	See cases	GPathogenic
Select item 981209	GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3	CHRNA10, CNGA4 +208 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 980416	GRCh37/hg19 11p15.5(chr11:230615-1150353)x3	ANO9, AP2A2 +43 more	Copy number gain	not provided	GUncertain significance
Select item 832038	NC_000011.9:g.(?_532616)_(2906985_?)dup	C11orf21, AP2A2 +63 more	Duplication	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 830507	NC_000011.10:g.(?_532616)_(795026_?)dup	CDHR5, CEND1 +17 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	C11orf40, C11orf42 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	ADM, AKIP1 +258 more	Copy number gain	not provided	GPathogenic
Select item 563880	GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3	AKIP1, ANO9 +222 more	Copy number gain	not provided	GPathogenic
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 394658	GRCh37/hg19 11p15.5(chr11:662668-699404)x1	DEAF1, TMEM80	Copy number loss	See cases	GBenign
Select item 394279	GRCh37/hg19 11p15.5(chr11:532230-699404)x3	CDHR5, DEAF1 +12 more	Copy number gain	See cases	GUncertain significance
Select item 394007	GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3	OR51G2, OR51L1 +132 more	Copy number gain	See cases	GPathogenic
Select item 253876	GRCh37/hg19 11p15.5(chr11:532230-699463)x3	CDHR5, DEAF1 +12 more	Copy number gain	See cases	GUncertain significance
Select item 253804	GRCh37/hg19 11p15.5(chr11:680365-827724)x3	TMEM80, CRACR2B +9 more	Copy number gain	See cases	GUncertain significance

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Items: 68