ClinVar for MedGen (Select 413750) - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2572432	NM_213599.3(ANO5):c.2286C>G (p.Tyr762Ter)	ANO5 (Y747* +3 more)	Single nucleotide variant (nonsense)	Miyoshi muscular dystrophy 3	GLikely pathogenic
Select item 1802145	NM_213599.3(ANO5):c.[1520del];[155A>G]			Gnathodiaphyseal dysplasia +2 more	GLikely pathogenic
Select item 1626024	NM_213599.3(ANO5):c.2029+19T>G	ANO5	Single nucleotide variant (intron variant)	Gnathodiaphyseal dysplasia +2 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 1174994	NM_213599.3(ANO5):c.2236-10del	ANO5	Deletion (intron variant)	Gnathodiaphyseal dysplasia +3 more	GBenign
Select item 1029543	NM_213599.3(ANO5):c.2116C>T (p.Arg706Ter)	ANO5 (R705* +1 more)	Single nucleotide variant (nonsense)	Miyoshi muscular dystrophy 3	GPathogenic
Select item 976689	NM_213599.3(ANO5):c.898dup (p.Ile300fs)	ANO5 (I299fs +1 more)	Duplication (frameshift variant)	Gnathodiaphyseal dysplasia +2 more	GPathogenic
Select item 877787	NM_213599.3(ANO5):c.*3121A>G	ANO5	Single nucleotide variant (3 prime UTR variant)	ANO5-Related Muscle Diseases +4 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 694040	NM_213599.3(ANO5):c.1359C>G (p.Tyr453Ter)	ANO5 (Y452* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2L +3 more	GPathogenic
Select item 670368	NM_213599.3(ANO5):c.139-164del	ANO5	Deletion (intron variant)	Gnathodiaphyseal dysplasia +3 more	GBenign
Select item 619026	NM_213599.3(ANO5):c.1158del (p.Phe386fs)	ANO5 (F385fs +1 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more	GPathogenic
Select item 548626	NM_213599.3(ANO5):c.1693_1715del (p.Phe565fs)	ANO5 (F564fs +1 more)	Deletion (frameshift variant)	Gnathodiaphyseal dysplasia +2 more	GUncertain significance
Select item 499548	NM_213599.3(ANO5):c.2236-12_2236-10del	ANO5	Deletion (intron variant)	Gnathodiaphyseal dysplasia +3 more	GBenign
Select item 468825	NM_213599.3(ANO5):c.148C>T (p.Arg50Ter)	ANO5 (R50* +1 more)	Single nucleotide variant (nonsense)	Gnathodiaphyseal dysplasia +2 more	GPathogenic
Select item 452453	NM_213599.3(ANO5):c.1081G>C (p.Asp361His)	ANO5 (D361H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 432004	NM_213599.3(ANO5):c.169C>T (p.Arg57Trp)	ANO5 (R57W +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 424764	NM_213599.2(ANO5):c.[155A>G];[191dupA]			Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more	GLikely pathogenic
Select item 304170	NM_213599.3(ANO5):c.*3481dup	ANO5	Duplication (3 prime UTR variant)	not provided +5 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 304160	NM_213599.3(ANO5):c.*3152G>A	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 304134	NM_213599.3(ANO5):c.*1521T>C	ANO5	Single nucleotide variant (3 prime UTR variant)	Miyoshi myopathy +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 304131	NM_213599.3(ANO5):c.*1313A>G	ANO5	Single nucleotide variant (3 prime UTR variant)	Miyoshi myopathy +6 more	GBenign/Likely benign
Select item 304130	NM_213599.3(ANO5):c.*1286G>T	ANO5	Single nucleotide variant (3 prime UTR variant)	Miyoshi myopathy +6 more	GBenign/Likely benign
Select item 304121	NM_213599.3(ANO5):c.*496A>G	ANO5	Single nucleotide variant (3 prime UTR variant)	Miyoshi myopathy +6 more	GBenign/Likely benign
Select item 304090	NM_213599.3(ANO5):c.-217G>T	ANO5	Single nucleotide variant (5 prime UTR variant)	Miyoshi myopathy +6 more	GBenign/Likely benign
Select item 289652	NM_213599.3(ANO5):c.424A>T (p.Thr142Ser)	ANO5 (T142S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 286450	NM_213599.3(ANO5):c.1664G>T (p.Ser555Ile)	ANO5 (S555I +1 more)	Single nucleotide variant (missense variant)	Fatty replacement of skeletal muscle +7 more	GPathogenic/Likely pathogenic
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 285669	NM_213599.3(ANO5):c.2004del (p.Leu669fs)	ANO5 (L668fs +1 more)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 285552	NM_213599.3(ANO5):c.2256G>A (p.Thr752=)	ANO5	Single nucleotide variant (synonymous variant)	Gnathodiaphyseal dysplasia +5 more	GConflicting classifications of pathogenicity
Select item 285338	NM_213599.3(ANO5):c.2498T>A (p.Met833Lys)	ANO5 (M833K +1 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +4 more	GPathogenic/Likely pathogenic
Select item 282397	NM_213599.3(ANO5):c.2521-7C>T	ANO5	Single nucleotide variant (intron variant)	Gnathodiaphyseal dysplasia +4 more	GBenign/Likely benign
Select item 282394	NM_213599.3(ANO5):c.1640G>A (p.Arg547Gln)	ANO5 (R547Q +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 280322	NM_213599.3(ANO5):c.304_308del (p.Lys102fs)	ANO5 (K102fs +1 more)	Deletion (frameshift variant)	Gnathodiaphyseal dysplasia +3 more	GPathogenic
Select item 263316	NM_213599.3(ANO5):c.604G>A (p.Glu202Lys)	ANO5 (E202K +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +5 more	GBenign
Select item 263314	NM_213599.3(ANO5):c.2354T>G (p.Leu785Arg)	ANO5 (L785R +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 263313	NM_213599.3(ANO5):c.1898+29G>T	ANO5	Single nucleotide variant (intron variant)	not specified +4 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 226458	NM_213599.3(ANO5):c.800C>G (p.Thr267Ser)	ANO5 (T267S +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign
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 195544	NM_213599.3(ANO5):c.2236-10dup	ANO5	Duplication (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +4 more	GBenign
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 194805	NM_213599.3(ANO5):c.1898+1G>A	ANO5	Single nucleotide variant (splice donor variant)	Gnathodiaphyseal dysplasia +3 more	GPathogenic
Select item 140557	NM_213599.3(ANO5):c.2520+25G>C	ANO5	Single nucleotide variant (intron variant)	Miyoshi muscular dystrophy 3 +3 more	GBenign
Select item 140553	NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser)	ANO5 (F578S +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +4 more	GPathogenic/Likely pathogenic
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 140547	NM_213599.3(ANO5):c.138+169G>A	ANO5	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
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 140544	NM_213599.3(ANO5):c.-136G>C	ANO5	Single nucleotide variant (5 prime UTR variant)	Miyoshi myopathy +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 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 96688	NM_213599.3(ANO5):c.989dup (p.Leu330fs)	ANO5 (L329fs +1 more)	Duplication (frameshift variant)	Gnathodiaphyseal dysplasia +2 more	GPathogenic
Select item 96687	NM_213599.3(ANO5):c.966A>T (p.Leu322Phe)	ANO5 (L322F +1 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +6 more	GBenign/Likely benign
Select item 96686	NM_213599.3(ANO5):c.879-18T>C	ANO5	Single nucleotide variant (intron variant)	Gnathodiaphyseal dysplasia +3 more	GBenign
Select item 96684	NM_213599.3(ANO5):c.364-8del	ANO5	Deletion (intron variant)	Gnathodiaphyseal dysplasia +6 more	GBenign/Likely 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 96680	NM_213599.3(ANO5):c.2521-13A>G	ANO5	Single nucleotide variant (intron variant)	Gnathodiaphyseal dysplasia +4 more	GBenign
Select item 96678	NM_213599.3(ANO5):c.2236-13_2236-10del	ANO5	Deletion (intron variant)	Gnathodiaphyseal dysplasia +4 more	GBenign/Likely benign
Select item 39276	NM_213599.3(ANO5):c.1407+5G>A	ANO5	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 2166	NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys)	ANO5 (R758C +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 2165	NM_213599.3(ANO5):c.692G>T (p.Gly231Val)	ANO5 (G230V)	Single nucleotide variant (missense variant)	ANO5-Related Disorders +7 more	GPathogenic/Likely pathogenic
Select item 2164	NM_213599.3(ANO5):c.191dup (p.Asn64fs)	ANO5 (N63fs +1 more)	Duplication (frameshift variant)	Achilles tendon contracture +13 more	GPathogenic/Likely pathogenic
Select item 2163	NM_213599.3(ANO5):c.1295C>G (p.Ala432Gly)	ANO5 (A432G +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic

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Items: 66