"Diagnostic Laboratory, Department of Genetics, University Medical Cen - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1100663	NM_213599.3(ANO5):c.129A>G (p.Glu43=)	ANO5	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more	GLikely benign
Select item 96681	NM_213599.3(ANO5):c.267T>C (p.Asp89=)	ANO5	Single nucleotide variant (synonymous variant)	Gnathodiaphyseal dysplasia +7 more	GBenign
Select item 198299	NM_213599.3(ANO5):c.295-8dup	ANO5	Duplication (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 96684	NM_213599.3(ANO5):c.364-8del	ANO5	Deletion (intron variant)	Gnathodiaphyseal dysplasia +6 more	GBenign/Likely benign
Select item 446844	NM_213599.3(ANO5):c.674C>T (p.Pro225Leu)	ANO5 (P225L +1 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +2 more	GUncertain significance
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 type 2L +6 more	GPathogenic/Likely pathogenic
Select item 96687	NM_213599.3(ANO5):c.966A>T (p.Leu322Phe)	ANO5 (L322F +1 more)	Single nucleotide variant (missense variant)	Miyoshi myopathy +6 more	GBenign/Likely benign
Select item 289098	NM_213599.3(ANO5):c.1450C>T (p.Arg484Cys)	ANO5 (R484C +1 more)	Single nucleotide variant (missense variant)	Limb-Girdle Muscular Dystrophy, Recessive +5 more	GConflicting classifications of pathogenicity
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 290518	NM_213599.3(ANO5):c.1689T>C (p.Phe563=)	ANO5	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 194805	NM_213599.3(ANO5):c.1898+1G>A	ANO5	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +3 more	GPathogenic
Select item 1174994	NM_213599.3(ANO5):c.2236-10del	ANO5	Deletion (intron variant)	Gnathodiaphyseal dysplasia +3 more	GBenign
Select item 285552	NM_213599.3(ANO5):c.2256G>A (p.Thr752=)	ANO5	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 2166	NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys)	ANO5 (R758C +1 more)	Single nucleotide variant (missense variant)	Miyoshi muscular dystrophy 3 +3 more	GPathogenic/Likely pathogenic
Select item 1175158	NM_213599.3(ANO5):c.2622G>A (p.Lys874=)	ANO5	Single nucleotide variant (synonymous variant)	Gnathodiaphyseal dysplasia +1 more	GLikely benign