C1969785[trait identifier] AND "Broad Center for Mendelian Genomics, B - ClinVar - NCBI

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Items: 10

	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)	ANO5-related condition +13 more	GPathogenic/Likely pathogenic
Select item 977163	NM_213599.3(ANO5):c.395A>T (p.Lys132Met)	ANO5 (K131M +1 more)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 548990	NM_213599.3(ANO5):c.649-2A>G	ANO5	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more	GLikely pathogenic
Select item 286191	NM_213599.3(ANO5):c.749A>G (p.Tyr250Cys)	ANO5 (Y250C +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +2 more	GUncertain significance
Select item 285942	NM_213599.3(ANO5):c.1627dup (p.Met543fs)	ANO5 (M542fs +1 more)	Duplication (frameshift variant)	Miyoshi muscular dystrophy 3 +3 more	GPathogenic
Select item 813973	NM_213599.3(ANO5):c.1630+2T>G	ANO5	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more	GLikely pathogenic
Select item 2166	NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys)	ANO5 (R758C +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +3 more	GPathogenic/Likely pathogenic
Select item 813964	NM_213599.3(ANO5):c.2411G>C (p.Cys804Ser)	ANO5 (C804S +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more	GUncertain significance
Select item 195705	NM_213599.3(ANO5):c.2521C>G (p.His841Asp)	ANO5 (H841D +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +5 more	GConflicting classifications of pathogenicity
Select item 635046	NM_213599.3(ANO5):c.2636T>C (p.Phe879Ser)	ANO5 (F879S +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more	GUncertain significance