"Genome-Nilou Lab"[submitter] AND "ANO5"[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 304090	NM_213599.3(ANO5):c.-217G>T	ANO5	Single nucleotide variant (5 prime UTR variant)	ANO5-Related Muscle Diseases +6 more	GBenign/Likely benign
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 670368	NM_213599.3(ANO5):c.139-164del	ANO5	Deletion (intron variant)	Gnathodiaphyseal dysplasia +3 more	GBenign
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 96684	NM_213599.3(ANO5):c.364-8del	ANO5	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +6 more	GBenign/Likely benign
Select item 263316	NM_213599.3(ANO5):c.604G>A (p.Glu202Lys)	ANO5 (E202K +1 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +5 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 +5 more	GBenign/Likely benign
Select item 226458	NM_213599.3(ANO5):c.800C>G (p.Thr267Ser)	ANO5 (T267S +1 more)	Single nucleotide variant (missense variant)	Miyoshi muscular dystrophy 3 +5 more	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 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 263308	NM_213599.3(ANO5):c.1120-24A>T	ANO5	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
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 263313	NM_213599.3(ANO5):c.1898+29G>T	ANO5	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 1626024	NM_213599.3(ANO5):c.2029+19T>G	ANO5	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +2 more	GBenign/Likely benign
Select item 195544	NM_213599.3(ANO5):c.2236-10dup	ANO5	Duplication (intron variant)	Miyoshi muscular dystrophy 3 +4 more	GBenign
Select item 1174994	NM_213599.3(ANO5):c.2236-10del	ANO5	Deletion (intron variant)	Gnathodiaphyseal dysplasia +3 more	GBenign
Select item 499548	NM_213599.3(ANO5):c.2236-12_2236-10del	ANO5	Deletion (intron variant)	Gnathodiaphyseal dysplasia +3 more	GBenign
Select item 96678	NM_213599.3(ANO5):c.2236-13_2236-10del	ANO5	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +4 more	GBenign/Likely benign
Select item 285552	NM_213599.3(ANO5):c.2256G>A (p.Thr752=)	ANO5	Single nucleotide variant (synonymous variant)	ANO5-Related Muscle Diseases +5 more	GConflicting classifications of pathogenicity
Select item 263314	NM_213599.3(ANO5):c.2354T>G (p.Leu785Arg)	ANO5 (L785R +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 195543	NM_213599.3(ANO5):c.2387C>T (p.Ser796Leu)	ANO5 (S796L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +5 more	GBenign/Likely benign
Select item 1254093	NM_213599.3(ANO5):c.2415-22del	ANO5	Deletion (intron variant)	not provided +3 more	GBenign
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 96680	NM_213599.3(ANO5):c.2521-13A>G	ANO5	Single nucleotide variant (intron variant)	Miyoshi muscular dystrophy 3 +5 more	GBenign
Select item 282397	NM_213599.3(ANO5):c.2521-7C>T	ANO5	Single nucleotide variant (intron variant)	not specified +4 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 802664	NM_213599.3(ANO5):c.*113del	ANO5	Deletion (3 prime UTR variant)	not provided +3 more	GBenign
Select item 304121	NM_213599.3(ANO5):c.*496A>G	ANO5	Single nucleotide variant (3 prime UTR variant)	not provided +6 more	GBenign/Likely benign
Select item 304130	NM_213599.3(ANO5):c.*1286G>T	ANO5	Single nucleotide variant (3 prime UTR variant)	ANO5-Related Muscle Diseases +6 more	GBenign/Likely benign
Select item 304131	NM_213599.3(ANO5):c.*1313A>G	ANO5	Single nucleotide variant (3 prime UTR variant)	ANO5-Related Muscle Diseases +6 more	GBenign/Likely benign
Select item 304133	NM_213599.3(ANO5):c.*1429A>G	ANO5	Single nucleotide variant (3 prime UTR variant)	ANO5-Related Muscle Diseases +6 more	GBenign/Likely benign
Select item 304134	NM_213599.3(ANO5):c.*1521T>C	ANO5	Single nucleotide variant (3 prime UTR variant)	ANO5-Related Muscle Diseases +6 more	GBenign/Likely benign
Select item 304140	NM_213599.3(ANO5):c.*1762del	ANO5	Deletion (3 prime UTR variant)	not provided +5 more	GBenign/Likely benign
Select item 877787	NM_213599.3(ANO5):c.*3121A>G	ANO5	Single nucleotide variant (3 prime UTR variant)	not provided +4 more	GBenign/Likely benign
Select item 304160	NM_213599.3(ANO5):c.*3152G>A	ANO5	Single nucleotide variant (3 prime UTR variant)	not provided +6 more	GBenign/Likely benign
Select item 304163	NM_213599.3(ANO5):c.*3178C>G	ANO5	Single nucleotide variant (3 prime UTR variant)	ANO5-Related Muscle Diseases +6 more	GBenign
Select item 304170	NM_213599.3(ANO5):c.*3481dup	ANO5	Duplication (3 prime UTR variant)	Miyoshi myopathy +5 more	GBenign/Likely benign

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Items: 39