"ANO5 @LOVD"[submitter] AND "ANO5"[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 140545	NM_213599.3(ANO5):c.-162A>G	ANO5	Single nucleotide variant (5 prime UTR variant)	Limb-girdle muscular dystrophy, recessive +3 more	GUncertain significance
Select item 140544	NM_213599.3(ANO5):c.-136G>C	ANO5	Single nucleotide variant (5 prime UTR variant)	Miyoshi muscular dystrophy 3 +7 more	GBenign
Select item 140547	NM_213599.3(ANO5):c.138+169G>A	ANO5	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +3 more	GBenign
Select item 140548	NM_213599.3(ANO5):c.138+206T>C	ANO5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 140554	NM_213599.3(ANO5):c.180+223G>A	ANO5	Single nucleotide variant (intron variant)	not provided	GBenign
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 96681	NM_213599.3(ANO5):c.267T>C (p.Asp89=)	ANO5	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +7 more	GBenign
Select item 140559	NM_213599.3(ANO5):c.295-325A>G	ANO5	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 140560	NM_213599.3(ANO5):c.363+4A>G	ANO5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 140562	NM_213599.3(ANO5):c.649-166A>G	ANO5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 140561	NM_213599.3(ANO5):c.649-114T>G	ANO5	Single nucleotide variant (intron variant)	not provided	Gnot provided
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 140563	NM_213599.3(ANO5):c.762+87G>A	ANO5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 140564	NM_213599.3(ANO5):c.879-76T>A	ANO5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 96686	NM_213599.3(ANO5):c.879-18T>C	ANO5	Single nucleotide variant (intron variant)	Miyoshi muscular dystrophy 3 +4 more	GBenign
Select item 96687	NM_213599.3(ANO5):c.966A>T (p.Leu322Phe)	ANO5 (L322F +1 more)	Single nucleotide variant (missense variant)	not provided +7 more	GBenign/Likely benign
Select item 2162	NM_213599.3(ANO5):c.1066T>G (p.Cys356Gly)	ANO5 (C356G +1 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia	GPathogenic
Select item 2161	NM_213599.3(ANO5):c.1066T>C (p.Cys356Arg)	ANO5 (C356R +1 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia	GPathogenic
Select item 140546	NM_213599.3(ANO5):c.1095A>G (p.Leu365=)	ANO5	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +5 more	GBenign/Likely benign
Select item 2163	NM_213599.3(ANO5):c.1295C>G (p.Ala432Gly)	ANO5 (A432G +1 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +4 more	GPathogenic
Select item 140549	NM_213599.3(ANO5):c.1391delinsAT (p.Ala464fs)	ANO5 (A463fs +1 more)	Indel (frameshift variant)	not provided	Gnot provided
Select item 140550	NM_213599.3(ANO5):c.1545A>G (p.Ser515=)	ANO5	Single nucleotide variant (synonymous variant)	Gnathodiaphyseal dysplasia +4 more	GBenign/Likely benign
Select item 140552	NM_213599.3(ANO5):c.1630+61T>G	ANO5	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 140551	NM_213599.3(ANO5):c.1630+181A>G	ANO5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 140553	NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser)	ANO5 (F578S +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +4 more	GPathogenic/Likely pathogenic
Select item 140555	NM_213599.3(ANO5):c.2018A>G (p.Tyr673Cys)	ANO5 (Y673C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 140556	NM_213599.3(ANO5):c.2029+147A>G	ANO5	Single nucleotide variant (intron variant)	not provided	GBenign
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 39277	NM_213599.3(ANO5):c.2311_2312del (p.Gln771fs)	ANO5 (Q770fs +1 more)	Microsatellite (frameshift variant)	Gnathodiaphyseal dysplasia +1 more	GPathogenic
Select item 140557	NM_213599.3(ANO5):c.2520+25G>C	ANO5	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +3 more	GBenign
Select item 140558	NM_213599.3(ANO5):c.2521-29G>A	ANO5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 128390	NM_213599.3(ANO5):c.2646C>G (p.Asn882Lys)	ANO5 (N882K +1 more)	Single nucleotide variant (missense variant)	ANO5-Related Muscle Diseases +5 more	GBenign/Likely benign

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Items: 32