"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "ANO5"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 197403	NM_213599.3(ANO5):c.155A>G (p.Asn52Ser)	ANO5 (N52S +1 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +4 more	GConflicting classifications of pathogenicity
Select item 197402	NM_213599.3(ANO5):c.172C>T (p.Arg58Trp)	ANO5 (R58W +1 more)	Single nucleotide variant (missense variant)	Abnormality of the musculature +5 more	GPathogenic/Likely pathogenic
Select item 2164	NM_213599.3(ANO5):c.191dup (p.Asn64fs)	ANO5 (N63fs +1 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy +12 more	GPathogenic/Likely pathogenic
Select item 2165	NM_213599.3(ANO5):c.692G>T (p.Gly231Val)	ANO5 (G230V)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy +6 more	GPathogenic/Likely pathogenic
Select item 217144	NM_213599.3(ANO5):c.762+1G>A	ANO5	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic
Select item 1163335	NM_213599.3(ANO5):c.1087T>A (p.Trp363Arg)	ANO5 (W362R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 499011	NM_213599.3(ANO5):c.1516A>G (p.Ser506Gly)	ANO5 (S506G +1 more)	Single nucleotide variant (missense variant)	ANO5-Related Muscle Diseases +3 more	GConflicting classifications of pathogenicity
Select item 282165	NM_213599.3(ANO5):c.1563G>T (p.Leu521Phe)	ANO5 (L521F +1 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +2 more	GUncertain significance
Select item 1052251	NM_213599.3(ANO5):c.1609T>C (p.Ser537Pro)	ANO5 (S536P +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +2 more	GUncertain significance
Select item 282394	NM_213599.3(ANO5):c.1640G>A (p.Arg547Gln)	ANO5 (R547Q +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 194805	NM_213599.3(ANO5):c.1898+1G>A	ANO5	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic
Select item 2043922	NM_213599.3(ANO5):c.1965G>A (p.Trp655Ter)	ANO5 (W640* +3 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3380012	NM_213599.3(ANO5):c.2047G>T (p.Val683Phe)	ANO5 (V668F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163336	NM_213599.3(ANO5):c.2053C>A (p.Leu685Ile)	ANO5 (L684I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 497235	NM_213599.3(ANO5):c.2125G>T (p.Ala709Ser)	ANO5 (A709S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 195004	NM_213599.3(ANO5):c.2141C>G (p.Thr714Ser)	ANO5 (T714S +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +3 more	GConflicting classifications of pathogenicity
Select item 3380013	NM_213599.3(ANO5):c.2180T>C (p.Ile727Thr)	ANO5 (I712T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 286474	NM_213599.3(ANO5):c.2235+4A>C	ANO5	Single nucleotide variant (intron variant)	Limb-girdle muscular dystrophy, recessive +5 more	GUncertain significance
Select item 2166	NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys)	ANO5 (R758C +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 2683143	NM_213599.3(ANO5):c.2360C>T (p.Ala787Val)	ANO5 (A772V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 813964	NM_213599.3(ANO5):c.2411G>C (p.Cys804Ser)	ANO5 (C804S +1 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +2 more	GConflicting classifications of pathogenicity
Select item 195706	NM_213599.3(ANO5):c.2698A>C (p.Met900Leu)	ANO5 (M900L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +4 more	GConflicting classifications of pathogenicity
Select item 502231	NM_213599.3(ANO5):c.2711A>T (p.Asn904Ile)	ANO5 (N904I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance

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Items: 23