11859[HGNC] - ClinVar

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Items: 54

	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 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 58855	GRCh38/hg38 11p15.5(chr11:758848-1998025)x1	AP2A2, BRSK2 +115 more	Copy number loss	See cases	GPathogenic
Select item 3329659	NM_003271.5(TSPAN4):c.7C>G (p.Arg3Gly)	TSPAN4 (R3G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183845	NM_003271.5(TSPAN4):c.79G>A (p.Val27Met)	TSPAN4 (V27M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329658	NM_003271.5(TSPAN4):c.106G>A (p.Ala36Thr)	TSPAN4 (A36T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218764	NM_003271.5(TSPAN4):c.124G>A (p.Ala42Thr)	TSPAN4 (A42T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508704	NM_003271.5(TSPAN4):c.202G>A (p.Gly68Ser)	TSPAN4 (G4S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481148	NM_003271.5(TSPAN4):c.208G>A (p.Val70Met)	TSPAN4 (V6M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612928	NM_003271.5(TSPAN4):c.215G>A (p.Cys72Tyr)	TSPAN4 (C8Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520353	NM_003271.5(TSPAN4):c.241T>C (p.Cys81Arg)	TSPAN4 (C17R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510493	NM_003271.5(TSPAN4):c.296C>T (p.Thr99Ile)	TSPAN4 (T35I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351716	NM_003271.5(TSPAN4):c.316G>A (p.Ala106Thr)	TSPAN4 (A106T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235817	NM_003271.5(TSPAN4):c.448G>A (p.Val150Ile)	TSPAN4 (V150I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205520	NM_003271.5(TSPAN4):c.470T>C (p.Phe157Ser)	TSPAN4 (F157S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183844	NM_003271.5(TSPAN4):c.613G>A (p.Val205Met)	TSPAN4 (V205M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365731	NM_003271.5(TSPAN4):c.638C>T (p.Ala213Val)	TSPAN4 (A213V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624101	NM_003271.5(TSPAN4):c.644T>C (p.Val215Ala)	TSPAN4 (V151A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336854	NM_003271.5(TSPAN4):c.667G>A (p.Ala223Thr)	TSPAN4 (A159T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244518	NC_000011.9:g.(?_216698)_(2906719_?)dup	ANO9, AP2A2 +77 more	Duplication	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 3063226	GRCh37/hg19 11p15.5(chr11:743761-894572)x1	CD151, CEND1 +10 more	Copy number loss	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 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	ANO9, AP2A2 +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 2425075	NC_000011.9:g.(?_721044)_(3988932_?)dup	AP2A2, ART1 +65 more	Duplication	not provided	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 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 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 806760	GRCh37/hg19 11p15.5(chr11:831535-850367)x1	CD151, CRACR2B +2 more	Copy number loss	not provided	GUncertain significance
Select item 685865	GRCh37/hg19 11p15.5(chr11:733608-986824)x3	AP2A2, CD151 +11 more	Copy number gain	not provided	GUncertain significance
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 394007	GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3	OR51G2, OR51L1 +132 more	Copy number gain	See cases	GPathogenic
Select item 221388	GRCh37/hg19 11p15.5(chr11:850336-1491561)x1	AP2A2, BRSK2 +8 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance

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Items: 54