ClinVar for Gene (Select 338440) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3299238	NM_001012302.3(ANO9):c.2209G>A (p.Glu737Lys)	ANO9 (E593K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299228	NM_001012302.3(ANO9):c.623G>T (p.Gly208Val)	ANO9 (G208V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299217	NM_001012302.3(ANO9):c.1595T>A (p.Val532Asp)	ANO9 (V532D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299207	NM_001012302.3(ANO9):c.515G>C (p.Arg172Pro)	ANO9 (R28P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299198	NM_001012302.3(ANO9):c.808T>G (p.Phe270Val)	ANO9 (F126V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299189	NM_001012302.3(ANO9):c.2201A>C (p.Lys734Thr)	ANO9 (K734T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299179	NM_001012302.3(ANO9):c.944G>A (p.Cys315Tyr)	ANO9, LOC126861108 (C171Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299169	NM_001012302.3(ANO9):c.836C>T (p.Thr279Met)	ANO9, LOC126861108 (T135M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244777	NC_000011.9:g.(?_216698)_(679836_?)del	ANO9, B4GALNT4 +25 more	Deletion	not provided	GUncertain significance
Select item 3244518	NC_000011.9:g.(?_216698)_(2906719_?)dup	ANO9, AP2A2 +77 more	Duplication	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 3127198	NM_001012302.3(ANO9):c.909G>C (p.Glu303Asp)	ANO9, LOC126861108 (E159D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127197	NM_001012302.3(ANO9):c.83C>T (p.Thr28Ile)	ANO9 (T28I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127196	NM_001012302.3(ANO9):c.697G>A (p.Asp233Asn)	ANO9 (D233N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127195	NM_001012302.3(ANO9):c.56C>T (p.Pro19Leu)	ANO9 (P19L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127194	NM_001012302.3(ANO9):c.497G>A (p.Arg166Gln)	ANO9 (R166Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3127193	NM_001012302.3(ANO9):c.395C>T (p.Thr132Ile)	ANO9 (T132I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127192	NM_001012302.3(ANO9):c.362G>A (p.Arg121Gln)	ANO9 (R121Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127191	NM_001012302.3(ANO9):c.241C>T (p.Arg81Cys)	ANO9 (R81C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127190	NM_001012302.3(ANO9):c.2344G>A (p.Val782Met)	ANO9 (V638M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127189	NM_001012302.3(ANO9):c.2324T>C (p.Phe775Ser)	ANO9 (F631S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3127188	NM_001012302.3(ANO9):c.2231G>A (p.Arg744His)	ANO9 (R600H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127187	NM_001012302.3(ANO9):c.2225G>C (p.Arg742Thr)	ANO9 (R742T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127186	NM_001012302.3(ANO9):c.2177A>G (p.Asp726Gly)	ANO9 (D726G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127185	NM_001012302.3(ANO9):c.2161G>A (p.Ala721Thr)	ANO9 (A577T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127184	NM_001012302.3(ANO9):c.2023G>A (p.Val675Met)	ANO9 (V531M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127183	NM_001012302.3(ANO9):c.1977C>A (p.His659Gln)	ANO9 (H659Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127182	NM_001012302.3(ANO9):c.1826C>T (p.Ala609Val)	ANO9 (A465V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127180	NM_001012302.3(ANO9):c.1472G>T (p.Cys491Phe)	ANO9 (C347F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127179	NM_001012302.3(ANO9):c.1327C>G (p.Leu443Val)	ANO9 (L299V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127177	NM_001012302.3(ANO9):c.1066G>A (p.Val356Ile)	ANO9, LOC126861108 (V356I +1 more)	Single nucleotide variant (missense variant)	not specified	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 3024365	GRCh38/hg38 11p15.5(chr11:313988-723647)	ANO9, B4GALNT4 +59 more	Copy number loss	Autism spectrum disorder	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 2641052	NM_001012302.3(ANO9):c.123A>G (p.Gln41=)	ANO9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2641051	NM_001012302.3(ANO9):c.146G>A (p.Arg49Gln)	ANO9 (R49Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2641050	NM_001012302.3(ANO9):c.327G>A (p.Pro109=)	ANO9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2641049	NM_001012302.3(ANO9):c.1350C>T (p.Pro450=)	ANO9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641048	NM_001012302.3(ANO9):c.1698C>T (p.Leu566=)	ANO9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620211	NM_001012302.3(ANO9):c.347C>T (p.Thr116Met)	ANO9 (T116M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602131	NM_001012302.3(ANO9):c.872G>A (p.Arg291His)	ANO9, LOC126861108 (R147H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599884	NM_001012302.3(ANO9):c.994G>A (p.Val332Ile)	ANO9, LOC126861108 (V332I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2592961	NM_001012302.3(ANO9):c.973C>T (p.His325Tyr)	ANO9, LOC126861108 (H325Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591700	NM_001012302.3(ANO9):c.229T>C (p.Phe77Leu)	ANO9 (F77L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2531683	NM_001012302.3(ANO9):c.2276C>T (p.Ala759Val)	ANO9 (A759V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512372	NM_001012302.3(ANO9):c.161A>G (p.Gln54Arg)	ANO9 (Q54R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507461	NM_001012302.3(ANO9):c.820A>G (p.Met274Val)	ANO9 (M274V +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 2474028	NM_001012302.3(ANO9):c.1570C>T (p.Arg524Trp)	ANO9 (R524W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462254	NM_001012302.3(ANO9):c.415G>A (p.Glu139Lys)	ANO9 (E139K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461611	NM_001012302.3(ANO9):c.2299G>A (p.Ala767Thr)	ANO9 (A767T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459457	NM_001012302.3(ANO9):c.491G>C (p.Trp164Ser)	ANO9 (W20S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457659	NM_001012302.3(ANO9):c.40G>C (p.Glu14Gln)	ANO9 (E14Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399374	NM_001012302.3(ANO9):c.1759C>G (p.Leu587Val)	ANO9 (L587V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398344	NM_001012302.3(ANO9):c.1064G>A (p.Arg355His)	ANO9, LOC126861108 (R211H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389126	NM_001012302.3(ANO9):c.247G>A (p.Asp83Asn)	ANO9 (D83N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369119	NM_001012302.3(ANO9):c.1036G>A (p.Gly346Ser)	ANO9, LOC126861108 (G202S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356335	NM_001012302.3(ANO9):c.1268G>A (p.Arg423His)	ANO9 (R279H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338523	NM_001012302.3(ANO9):c.1844T>C (p.Met615Thr)	ANO9 (M471T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330818	NM_001012302.3(ANO9):c.275C>A (p.Thr92Asn)	ANO9 (T92N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313790	NM_001012302.3(ANO9):c.1399G>A (p.Ala467Thr)	ANO9 (A467T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312012	NM_001012302.3(ANO9):c.2284C>T (p.Arg762Trp)	ANO9 (R618W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310015	NM_001012302.3(ANO9):c.2170G>A (p.Val724Met)	ANO9 (V724M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308371	NM_001012302.3(ANO9):c.962G>T (p.Arg321Leu)	ANO9, LOC126861108 (R177L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306605	NM_001012302.3(ANO9):c.85G>A (p.Glu29Lys)	ANO9 (E29K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303389	NM_001012302.3(ANO9):c.1592C>T (p.Pro531Leu)	ANO9 (P531L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291456	NM_001012302.3(ANO9):c.2246A>G (p.His749Arg)	ANO9 (H605R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274934	NM_001012302.3(ANO9):c.288G>C (p.Glu96Asp)	ANO9 (E96D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271790	NM_001012302.3(ANO9):c.1480T>C (p.Tyr494His)	ANO9 (Y494H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249812	NM_001012302.3(ANO9):c.145C>T (p.Arg49Trp)	ANO9 (R49W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231083	NM_001012302.3(ANO9):c.433G>A (p.Gly145Arg)	ANO9 (G145R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2230454	NM_001012302.3(ANO9):c.1237T>C (p.Phe413Leu)	ANO9 (F413L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221553	NM_001012302.3(ANO9):c.1198G>A (p.Val400Met)	ANO9 (V400M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213677	NM_001012302.3(ANO9):c.2297C>T (p.Pro766Leu)	ANO9 (P622L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211574	NM_001012302.3(ANO9):c.962G>A (p.Arg321Gln)	ANO9, LOC126861108 (R177Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210376	NM_001012302.3(ANO9):c.617T>C (p.Leu206Pro)	ANO9 (L206P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206812	NM_001012302.3(ANO9):c.1094C>T (p.Ser365Leu)	ANO9, LOC126861108 (S221L +1 more)	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 1421885	NC_000011.9:g.(?_216698)_(720766_?)dup	ANO9, B4GALNT4 +27 more	Duplication	Immunodeficiency 39	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 980416	GRCh37/hg19 11p15.5(chr11:230615-1150353)x3	ANO9, AP2A2 +43 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 782539	NM_001012302.3(ANO9):c.366C>T (p.Ile122=)	ANO9	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 723028	NM_001012302.3(ANO9):c.1490+7G>A	ANO9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 688993	GRCh37/hg19 11p15.5(chr11:210898-461373)x3	ANO9, B4GALNT4 +12 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 624552	GRCh37/hg19 11p15.5(chr11:210300-487062)x3	ANO9, B4GALNT4 +12 more	Copy number gain	not provided	GUncertain significance
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 393875	GRCh37/hg19 11p15.5(chr11:193842-475940)x3	ANO9, B4GALNT4 +15 more	Copy number gain	See cases	GLikely benign

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