ClinVar for Gene (Select 10077) - ClinVar

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

Links from Gene

Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3329656	NM_139022.3(TSPAN32):c.88A>T (p.Thr30Ser)	C11orf21, TSPAN32 (T30S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329655	NM_139022.3(TSPAN32):c.838C>T (p.Arg280Trp)	TSPAN32 (R280W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244544	NC_000011.9:g.(?_2233574)_(2499178_?)dup	ASCL2, C11orf21 +5 more	Duplication	Long QT 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 3183836	NM_139022.3(TSPAN32):c.817A>G (p.Arg273Gly)	TSPAN32 (R273G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183835	NM_139022.3(TSPAN32):c.772G>A (p.Gly258Arg)	TSPAN32 (W239* +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183834	NM_139022.3(TSPAN32):c.751C>T (p.Leu251Phe)	TSPAN32 (P232L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3183833	NM_139022.3(TSPAN32):c.671G>A (p.Arg224His)	TSPAN32 (R224H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183832	NM_139022.3(TSPAN32):c.668T>C (p.Ile223Thr)	TSPAN32 (I223T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183831	NM_139022.3(TSPAN32):c.613G>A (p.Gly205Ser)	TSPAN32 (G205S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183829	NM_139022.3(TSPAN32):c.238G>A (p.Ala80Thr)	TSPAN32 (A80T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183828	NM_139022.3(TSPAN32):c.116C>T (p.Ala39Val)	C11orf21, TSPAN32 (A39V)	Single nucleotide variant (missense variant +1 more)	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 2610947	NM_139022.3(TSPAN32):c.796G>A (p.Glu266Lys)	TSPAN32 (E266K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607980	NM_139022.3(TSPAN32):c.421G>T (p.Val141Phe)	TSPAN32 (V141F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606204	NM_139022.3(TSPAN32):c.112G>T (p.Gly38Trp)	C11orf21, TSPAN32 (G38W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603290	NM_139022.3(TSPAN32):c.133C>T (p.Arg45Cys)	C11orf21, TSPAN32 (R45C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594130	NM_139022.3(TSPAN32):c.863C>T (p.Ala288Val)	TSPAN32 (A288V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530909	NM_139022.3(TSPAN32):c.25G>T (p.Val9Phe)	C11orf21, TSPAN32 (V9F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516981	NM_139022.3(TSPAN32):c.137G>T (p.Arg46Leu)	C11orf21, TSPAN32 (R46L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509709	NM_139022.3(TSPAN32):c.259G>T (p.Ala87Ser)	TSPAN32 (A87S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509368	NM_139022.3(TSPAN32):c.715C>T (p.Pro239Ser)	TSPAN32 (P239S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2493282	NM_139022.3(TSPAN32):c.604A>G (p.Thr202Ala)	TSPAN32 (T202A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489756	NM_139022.3(TSPAN32):c.933T>G (p.Ser311Arg)	TSPAN32 (S311R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427669	NC_000011.9:g.(?_1278740)_(2906719_?)dup	ASCL2, BRSK2 +32 more	Duplication	Autosomal recessive DOPA responsive dystonia	GUncertain significance
Select item 2425075	NC_000011.9:g.(?_721044)_(3988932_?)dup	AP2A2, ART1 +65 more	Duplication	not provided	GUncertain significance
Select item 2404240	NM_139022.3(TSPAN32):c.424C>T (p.Arg142Trp)	TSPAN32 (R142W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2375981	NM_139022.3(TSPAN32):c.839G>A (p.Arg280Gln)	TSPAN32 (R280Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367575	NM_139022.3(TSPAN32):c.250G>A (p.Val84Met)	TSPAN32 (V84M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362960	NM_139022.3(TSPAN32):c.382G>A (p.Asp128Asn)	TSPAN32 (D128N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358105	NM_139022.3(TSPAN32):c.785G>A (p.Cys262Tyr)	TSPAN32 (C262Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352871	NM_139022.3(TSPAN32):c.413C>T (p.Thr138Met)	TSPAN32 (T138M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351005	NM_139022.3(TSPAN32):c.670C>A (p.Arg224Ser)	TSPAN32 (R224S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348278	NM_139022.3(TSPAN32):c.826T>G (p.Ser276Ala)	TSPAN32 (L257R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341666	NM_139022.3(TSPAN32):c.634G>A (p.Ala212Thr)	TSPAN32 (A212T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329525	NM_139022.3(TSPAN32):c.919C>T (p.Arg307Cys)	TSPAN32 (R307C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323516	NM_139022.3(TSPAN32):c.764C>G (p.Ser255Cys)	TSPAN32 (S255C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261042	NM_139022.3(TSPAN32):c.166G>C (p.Ala56Pro)	C11orf21, TSPAN32 (A56P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259554	NM_139022.3(TSPAN32):c.380A>G (p.Tyr127Cys)	TSPAN32 (Y127C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247452	NM_139022.3(TSPAN32):c.563G>A (p.Arg188Gln)	TSPAN32 (R188Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1706496	GRCh37/hg19 11p15.5-15.4(chr11:2314240-2915570)x3	C11orf21, CD81 +8 more	Copy number gain	See cases	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 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 980950	GRCh37/hg19 11p15.5(chr11:2316896-2418571)x3	C11orf21, CD81 +1 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 815396	GRCh37/hg19 11p15.5(chr11:2209396-2520511)x3	ASCL2, C11orf21 +5 more	Copy number gain	not provided	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 734465	NM_139022.3(TSPAN32):c.229G>A (p.Val77Met)	TSPAN32 (V77M)	Single nucleotide variant (missense variant)	not provided	GBenign
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 155520	GRCh38/hg38 11p15.5(chr11:2106943-2565669)x3	ASCL2, C11orf21 +32 more	Copy number gain	See cases	GUncertain significance
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 154397	GRCh38/hg38 11p15.5-15.4(chr11:1132899-3213923)x1	ASCL2, BRSK2 +129 more	Copy number loss	See cases	GPathogenic
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 148331	GRCh38/hg38 11p15.5(chr11:2149352-2467542)x3	ASCL2, C11orf21 +28 more	Copy number gain	See cases	GUncertain significance
Select item 147964	GRCh38/hg38 11p15.5-15.4(chr11:1975511-3624139)x1	ASCL2, C11orf21 +83 more	Copy number loss	See cases	GUncertain significance
Select item 147689	GRCh38/hg38 11p15.5-15.4(chr11:1537379-3360769)x3	C11orf21, CARS1 +115 more	Copy number gain	See cases	GPathogenic
Select item 146876	GRCh38/hg38 11p15.5-15.4(chr11:1975511-2888695)x3	ASCL2, C11orf21 +52 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 59748	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3	ANO9, AP2A2 +266 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 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	ASCL2, BGLT3 +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 75