C1969785[trait identifier] AND "Athena Diagnostics"[submitter] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 96685	NM_213599.3(ANO5):c.41-1G>A	ANO5	Single nucleotide variant (splice acceptor variant)	Gnathodiaphyseal dysplasia +2 more	GPathogenic/Likely pathogenic
Select item 468846	NM_213599.3(ANO5):c.87G>A (p.Glu29=)	ANO5	Single nucleotide variant (synonymous variant)	not provided +2 more	GUncertain significance
Select item 197403	NM_213599.3(ANO5):c.155A>G (p.Asn52Ser)	ANO5 (N52S +1 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +4 more	GConflicting classifications of pathogenicity
Select item 197402	NM_213599.3(ANO5):c.172C>T (p.Arg58Trp)	ANO5 (R58W +1 more)	Single nucleotide variant (missense variant)	Abnormality of the musculature +5 more	GPathogenic/Likely pathogenic
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 282497	NM_213599.3(ANO5):c.259G>A (p.Val87Ile)	ANO5 (V87I +1 more)	Single nucleotide variant (missense variant)	ANO5-Related Muscle Diseases +4 more	GConflicting classifications of pathogenicity
Select item 594615	NM_213599.3(ANO5):c.265G>T (p.Asp89Tyr)	ANO5 (D89Y +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 197907	NM_213599.3(ANO5):c.294G>A (p.Ala98=)	ANO5	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 446843	NM_213599.3(ANO5):c.298A>G (p.Arg100Gly)	ANO5 (R100G +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +2 more	GUncertain significance
Select item 282154	NM_213599.3(ANO5):c.553G>C (p.Glu185Gln)	ANO5 (E185Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 941871	NM_213599.3(ANO5):c.570A>G (p.Gln190=)	ANO5	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 501105	NM_213599.3(ANO5):c.583C>T (p.Arg195Trp)	ANO5 (R195W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 501737	NM_213599.3(ANO5):c.618CTT[1] (p.Phe208del)	ANO5 (F208del +1 more)	Microsatellite (inframe_deletion)	not provided +2 more	GUncertain significance
Select item 290329	NM_213599.3(ANO5):c.653A>G (p.Tyr218Cys)	ANO5 (Y218C +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 446844	NM_213599.3(ANO5):c.674C>T (p.Pro225Leu)	ANO5 (P225L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +2 more	GUncertain significance
Select item 282496	NM_213599.3(ANO5):c.680G>C (p.Gly227Ala)	ANO5 (G227A +1 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +4 more	GConflicting classifications of pathogenicity
Select item 2165	NM_213599.3(ANO5):c.692G>T (p.Gly231Val)	ANO5 (G230V)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy +6 more	GPathogenic/Likely pathogenic
Select item 283939	NM_213599.3(ANO5):c.720G>T (p.Leu240=)	ANO5	Single nucleotide variant (synonymous variant)	Gnathodiaphyseal dysplasia +5 more	GConflicting classifications of pathogenicity
Select item 217144	NM_213599.3(ANO5):c.762+1G>A	ANO5	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic
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 288430	NM_213599.3(ANO5):c.879-7_879-6del	ANO5	Deletion (intron variant)	Gnathodiaphyseal dysplasia +3 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)	not provided +7 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 468848	NM_213599.3(ANO5):c.994A>G (p.Met332Val)	ANO5 (M332V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 288517	NM_213599.3(ANO5):c.1031C>G (p.Pro344Arg)	ANO5 (P344R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 217143	NM_213599.3(ANO5):c.1210C>T (p.Arg404Ter)	ANO5 (R404* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2L +2 more	GPathogenic
Select item 507738	NM_213599.3(ANO5):c.1222C>T (p.Leu408=)	ANO5	Single nucleotide variant (synonymous variant)	Gnathodiaphyseal dysplasia +3 more	GConflicting classifications of pathogenicity
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 282165	NM_213599.3(ANO5):c.1563G>T (p.Leu521Phe)	ANO5 (L521F +1 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +2 more	GUncertain significance
Select item 2684304	NM_213599.3(ANO5):c.1606A>T (p.Ile536Leu)	ANO5 (I521L +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 446840	NM_213599.3(ANO5):c.1856C>A (p.Thr619Asn)	ANO5 (T619N +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +2 more	GUncertain significance
Select item 194805	NM_213599.3(ANO5):c.1898+1G>A	ANO5	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic
Select item 1807235	NM_213599.3(ANO5):c.1959T>G (p.Ser653Arg)	ANO5 (S638R +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +2 more	GUncertain significance
Select item 195004	NM_213599.3(ANO5):c.2141C>G (p.Thr714Ser)	ANO5 (T714S +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +3 more	GConflicting classifications of pathogenicity
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 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 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 446841	NM_213599.3(ANO5):c.2456A>G (p.Tyr819Cys)	ANO5 (Y819C +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +2 more	GUncertain significance
Select item 497102	NM_213599.3(ANO5):c.2470del (p.Gln824fs)	ANO5 (Q824fs +1 more)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 285338	NM_213599.3(ANO5):c.2498T>A (p.Met833Lys)	ANO5 (M833K +1 more)	Single nucleotide variant (missense variant)	ANO5-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 446842	NM_213599.3(ANO5):c.2516T>C (p.Met839Thr)	ANO5 (M839T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +3 more	GUncertain significance
Select item 195705	NM_213599.3(ANO5):c.2521C>G (p.His841Asp)	ANO5 (H841D +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
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)	Autosomal recessive limb-girdle muscular dystrophy type 2L +4 more	GConflicting classifications of pathogenicity
Select item 1980090	NM_213599.3(ANO5):c.2741A>G (p.Ter914=)	ANO5	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity

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Items: 50