"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 931302	NM_213599.3(ANO5):c.457A>G (p.Ile153Val)	ANO5 (I153V +1 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 931933	NM_213599.3(ANO5):c.1180+6T>C	ANO5	Single nucleotide variant (intron variant)	Gnathodiaphyseal dysplasia	GUncertain significance
Select item 286450	NM_213599.3(ANO5):c.1664G>T (p.Ser555Ile)	ANO5 (S555I +1 more)	Single nucleotide variant (missense variant)	Miyoshi muscular dystrophy 3 +8 more	GPathogenic/Likely pathogenic
Select item 523571	NM_213599.3(ANO5):c.1965G>C (p.Trp655Cys)	ANO5 (W655C +1 more)	Single nucleotide variant (missense variant)	Fatty replacement of skeletal muscle +4 more	GConflicting classifications of pathogenicity
Select item 374043	NM_213599.3(ANO5):c.2029+2dup	ANO5	Duplication (splice donor variant)	Gnathodiaphyseal dysplasia +1 more	GLikely pathogenic
Select item 930392	NM_213599.3(ANO5):c.2395C>T (p.Arg799Ter)	ANO5 (R799* +1 more)	Single nucleotide variant (nonsense)	Gnathodiaphyseal dysplasia +1 more	GPathogenic/Likely pathogenic

ClinVar