"Genetic Services Laboratory, University of Chicago"[submitter] AND "A - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 197402	NM_213599.3(ANO5):c.172C>T (p.Arg58Trp)	ANO5 (R58W +1 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +5 more	GPathogenic/Likely pathogenic
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 128391	NM_213599.3(ANO5):c.616A>G (p.Thr206Ala)	ANO5 (T206A +1 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +6 more	GBenign/Likely benign
Select item 434217	NM_213599.3(ANO5):c.794A>G (p.Asn265Ser)	ANO5 (N265S +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 96687	NM_213599.3(ANO5):c.966A>T (p.Leu322Phe)	ANO5 (L322F +1 more)	Single nucleotide variant (missense variant)	ANO5-Related Muscle Diseases +6 more	GBenign/Likely benign
Select item 96677	NM_213599.3(ANO5):c.1029C>T (p.Asp343=)	ANO5	Single nucleotide variant (synonymous variant)	Limb-Girdle Muscular Dystrophy, Recessive +6 more	GConflicting classifications of pathogenicity
Select item 128389	NM_213599.3(ANO5):c.2259A>G (p.Ser753=)	ANO5	Single nucleotide variant (synonymous variant)	ANO5-Related Muscle Diseases +6 more	GConflicting classifications of pathogenicity
Select item 195543	NM_213599.3(ANO5):c.2387C>T (p.Ser796Leu)	ANO5 (S796L +1 more)	Single nucleotide variant (missense variant)	ANO5-related condition +6 more	GBenign/Likely 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
Select item 195706	NM_213599.3(ANO5):c.2698A>C (p.Met900Leu)	ANO5 (M900L +1 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +4 more	GConflicting classifications of pathogenicity