"Ambry Genetics"[submitter] AND "ANO9"[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2461611	NM_001012302.3(ANO9):c.2299G>A (p.Ala767Thr)	ANO9 (A767T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213677	NM_001012302.3(ANO9):c.2297C>T (p.Pro766Leu)	ANO9 (P622L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312012	NM_001012302.3(ANO9):c.2284C>T (p.Arg762Trp)	ANO9 (R618W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531683	NM_001012302.3(ANO9):c.2276C>T (p.Ala759Val)	ANO9 (A759V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291456	NM_001012302.3(ANO9):c.2246A>G (p.His749Arg)	ANO9 (H605R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310015	NM_001012302.3(ANO9):c.2170G>A (p.Val724Met)	ANO9 (V724M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338523	NM_001012302.3(ANO9):c.1844T>C (p.Met615Thr)	ANO9 (M471T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399374	NM_001012302.3(ANO9):c.1759C>G (p.Leu587Val)	ANO9 (L587V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303389	NM_001012302.3(ANO9):c.1592C>T (p.Pro531Leu)	ANO9 (P531L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474028	NM_001012302.3(ANO9):c.1570C>T (p.Arg524Trp)	ANO9 (R524W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271790	NM_001012302.3(ANO9):c.1480T>C (p.Tyr494His)	ANO9 (Y494H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313790	NM_001012302.3(ANO9):c.1399G>A (p.Ala467Thr)	ANO9 (A467T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356335	NM_001012302.3(ANO9):c.1268G>A (p.Arg423His)	ANO9 (R279H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230454	NM_001012302.3(ANO9):c.1237T>C (p.Phe413Leu)	ANO9 (F413L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221553	NM_001012302.3(ANO9):c.1198G>A (p.Val400Met)	ANO9 (V400M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206812	NM_001012302.3(ANO9):c.1094C>T (p.Ser365Leu)	ANO9, LOC126861108 (S221L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398344	NM_001012302.3(ANO9):c.1064G>A (p.Arg355His)	ANO9, LOC126861108 (R211H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369119	NM_001012302.3(ANO9):c.1036G>A (p.Gly346Ser)	ANO9, LOC126861108 (G202S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599884	NM_001012302.3(ANO9):c.994G>A (p.Val332Ile)	ANO9, LOC126861108 (V332I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2592961	NM_001012302.3(ANO9):c.973C>T (p.His325Tyr)	LOC126861108, ANO9 (H325Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308371	NM_001012302.3(ANO9):c.962G>T (p.Arg321Leu)	ANO9, LOC126861108 (R177L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211574	NM_001012302.3(ANO9):c.962G>A (p.Arg321Gln)	ANO9, LOC126861108 (R177Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602131	NM_001012302.3(ANO9):c.872G>A (p.Arg291His)	ANO9, LOC126861108 (R147H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507461	NM_001012302.3(ANO9):c.820A>G (p.Met274Val)	ANO9 (M274V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210376	NM_001012302.3(ANO9):c.617T>C (p.Leu206Pro)	ANO9 (L206P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459457	NM_001012302.3(ANO9):c.491G>C (p.Trp164Ser)	ANO9 (W20S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231083	NM_001012302.3(ANO9):c.433G>A (p.Gly145Arg)	ANO9 (G145R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2462254	NM_001012302.3(ANO9):c.415G>A (p.Glu139Lys)	ANO9 (E139K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2620211	NM_001012302.3(ANO9):c.347C>T (p.Thr116Met)	ANO9 (T116M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2274934	NM_001012302.3(ANO9):c.288G>C (p.Glu96Asp)	ANO9 (E96D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2330818	NM_001012302.3(ANO9):c.275C>A (p.Thr92Asn)	ANO9 (T92N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2389126	NM_001012302.3(ANO9):c.247G>A (p.Asp83Asn)	ANO9 (D83N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2591700	NM_001012302.3(ANO9):c.229T>C (p.Phe77Leu)	ANO9 (F77L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2512372	NM_001012302.3(ANO9):c.161A>G (p.Gln54Arg)	ANO9 (Q54R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2249812	NM_001012302.3(ANO9):c.145C>T (p.Arg49Trp)	ANO9 (R49W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2306605	NM_001012302.3(ANO9):c.85G>A (p.Glu29Lys)	ANO9 (E29K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2457659	NM_001012302.3(ANO9):c.40G>C (p.Glu14Gln)	ANO9 (E14Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 37