"GeneDx"[submitter] AND "ANO5"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57955	GRCh38/hg38 11p15.1-14.3(chr11:21948209-22239692)x3	ANO5, LOC130005437 +6 more	Copy number gain	See cases	GUncertain significance
Select item 151352	GRCh38/hg38 11p14.3(chr11:22162150-22321563)x3	ANO5, LOC126861161 +8 more	Copy number gain	See cases	GUncertain significance
Select item 304089	NM_213599.3(ANO5):c.-261A>C	ANO5	Single nucleotide variant (5 prime UTR variant)	Miyoshi myopathy +3 more	GConflicting classifications of pathogenicity
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 450824	NM_213599.3(ANO5):c.11C>A (p.Pro4Gln)	ANO5 (P4Q)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +2 more	GUncertain significance
Select item 677470	NM_213599.3(ANO5):c.40+64G>T	ANO5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180978	NM_213599.3(ANO5):c.40+241C>A	ANO5, LOC130005442	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669073	NM_213599.3(ANO5):c.41-15_41-12del	ANO5	Microsatellite (intron variant)	not provided +2 more	GLikely benign
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 598197	NM_213599.3(ANO5):c.69C>A (p.Tyr23Ter)	ANO5 (Y23*)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 1205390	NM_213599.3(ANO5):c.87+137A>G	ANO5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212516	NM_213599.3(ANO5):c.87+261G>T	ANO5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674196	NM_213599.3(ANO5):c.88-281C>A	ANO5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682061	NM_213599.3(ANO5):c.138+14A>G	ANO5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214819	NM_213599.3(ANO5):c.138+106C>G	ANO5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201889	NM_213599.3(ANO5):c.138+149dup	ANO5	Duplication (intron variant)	not provided	GLikely benign
Select item 677973	NM_213599.3(ANO5):c.138+166G>A	ANO5	Single nucleotide variant (intron variant)	not provided	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 140548	NM_213599.3(ANO5):c.138+206T>C	ANO5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678381	NM_213599.3(ANO5):c.139-226T>G	ANO5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211480	NM_213599.3(ANO5):c.139-198G>A	ANO5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670368	NM_213599.3(ANO5):c.139-164del	ANO5	Deletion (intron variant)	Gnathodiaphyseal dysplasia +3 more	GBenign
Select item 286467	NM_213599.3(ANO5):c.139-1del	ANO5	Deletion (splice acceptor variant +1 more)	Gnathodiaphyseal dysplasia +2 more	GPathogenic/Likely pathogenic
Select item 498218	NM_213599.3(ANO5):c.149G>A (p.Arg50Gln)	ANO5 (R50Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 432004	NM_213599.3(ANO5):c.169C>T (p.Arg57Trp)	ANO5 (R57W +1 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +3 more	GConflicting classifications of pathogenicity
Select item 392450	NM_213599.3(ANO5):c.170G>A (p.Arg57Gln)	ANO5 (R57Q +1 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +2 more	GUncertain significance
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 497402	NM_213599.3(ANO5):c.173G>A (p.Arg58Gln)	ANO5 (R58Q +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +3 more	GConflicting classifications of pathogenicity
Select item 140554	NM_213599.3(ANO5):c.180+223G>A	ANO5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667964	NM_213599.3(ANO5):c.180+279T>C	ANO5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219856	NM_213599.3(ANO5):c.180+313G>A	ANO5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1244216	NM_213599.3(ANO5):c.181-318T>C	ANO5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262415	NM_213599.3(ANO5):c.181-220T>C	ANO5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188746	NM_213599.3(ANO5):c.181-42T>A	ANO5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 681444	NM_213599.3(ANO5):c.181-19T>C	ANO5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 507273	NM_213599.3(ANO5):c.181-18C>T	ANO5	Single nucleotide variant (intron variant)	Gnathodiaphyseal dysplasia +2 more	GLikely benign
Select item 384273	NM_213599.3(ANO5):c.181-16T>C	ANO5	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +2 more	GLikely benign
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 96679	NM_213599.3(ANO5):c.242A>G (p.Asp81Gly)	ANO5 (D80G)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy +3 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 1695875	NM_213599.3(ANO5):c.265_267delinsTAC (p.Asp89Tyr)	ANO5 (D88Y +1 more)	Indel (missense variant)	not provided	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 285124	NM_213599.3(ANO5):c.276A>G (p.Lys92=)	ANO5	Single nucleotide variant (synonymous variant)	Gnathodiaphyseal dysplasia +3 more	GConflicting classifications of pathogenicity
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 1202966	NM_213599.3(ANO5):c.295-275A>G	ANO5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 198299	NM_213599.3(ANO5):c.295-8dup	ANO5	Duplication (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +2 more	GConflicting classifications of pathogenicity
Select item 388034	NM_213599.3(ANO5):c.295-16T>A	ANO5	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 418672	NM_213599.3(ANO5):c.299del (p.Arg100fs)	ANO5 (R99fs +1 more)	Deletion (frameshift variant)	Gnathodiaphyseal dysplasia +2 more	GPathogenic
Select item 280322	NM_213599.3(ANO5):c.304_308del (p.Lys102fs)	ANO5 (K102fs +1 more)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 1199476	NM_213599.3(ANO5):c.363+130C>T	ANO5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 667965	NM_213599.3(ANO5):c.364-300T>C	ANO5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212767	NM_213599.3(ANO5):c.364-284A>G	ANO5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673916	NM_213599.3(ANO5):c.364-283T>C	ANO5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289327	NM_213599.3(ANO5):c.364-166_364-165del	ANO5	Microsatellite (intron variant)	not provided	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 682260	NM_213599.3(ANO5):c.364-5T>C	ANO5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1310333	NM_213599.3(ANO5):c.373G>C (p.Asp125His)	ANO5 (D124H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 419891	NM_213599.3(ANO5):c.385T>C (p.Tyr129His)	ANO5 (Y129H +1 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +2 more	GUncertain significance
Select item 1380764	NM_213599.3(ANO5):c.443G>T (p.Gly148Val)	ANO5 (G147V +1 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +2 more	GUncertain significance
Select item 1309429	NM_213599.3(ANO5):c.454C>G (p.Pro152Ala)	ANO5 (P151A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 501968	NM_213599.3(ANO5):c.478C>T (p.Arg160Cys)	ANO5 (R160C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 304100	NM_213599.3(ANO5):c.584G>A (p.Arg195Gln)	ANO5 (R195Q +1 more)	Single nucleotide variant (missense variant)	ANO5-Related Muscle Diseases +5 more	GUncertain significance
Select item 1309828	NM_213599.3(ANO5):c.598C>T (p.Leu200Phe)	ANO5 (L199F +1 more)	Single nucleotide variant (missense variant)	not provided	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 1334350	NM_213599.3(ANO5):c.632C>T (p.Ser211Leu)	ANO5 (S210L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +2 more	GUncertain significance
Select item 450952	NM_213599.3(ANO5):c.637A>G (p.Arg213Gly)	ANO5 (R213G +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +2 more	GConflicting classifications of pathogenicity
Select item 1221355	NM_213599.3(ANO5):c.648+208A>G	ANO5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181875	NM_213599.3(ANO5):c.648+217T>C	ANO5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202878	NM_213599.3(ANO5):c.648+248T>C	ANO5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673917	NM_213599.3(ANO5):c.648+257G>A	ANO5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677975	NM_213599.3(ANO5):c.649-249C>G	ANO5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 140562	NM_213599.3(ANO5):c.649-166A>G	ANO5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677977	NM_213599.3(ANO5):c.649-114T>A	ANO5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 424043	NM_213599.3(ANO5):c.650T>C (p.Val217Ala)	ANO5 (V217A +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 850288	NM_213599.3(ANO5):c.671G>C (p.Cys224Ser)	ANO5 (C224S +1 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +2 more	GUncertain significance
Select item 1315253	NM_213599.3(ANO5):c.679G>A (p.Gly227Ser)	ANO5 (G226S +1 more)	Single nucleotide variant (missense variant)	not provided	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 283967	NM_213599.3(ANO5):c.689A>G (p.Asp230Gly)	ANO5 (D230G +1 more)	Single nucleotide variant (missense variant)	not provided +2 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 452899	NM_213599.3(ANO5):c.736T>C (p.Tyr246His)	ANO5 (Y246H +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 140563	NM_213599.3(ANO5):c.762+87G>A	ANO5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673918	NM_213599.3(ANO5):c.762+321T>C	ANO5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217635	NM_213599.3(ANO5):c.763-215A>T	ANO5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1223050	NM_213599.3(ANO5):c.763-46G>T	ANO5	Single nucleotide variant (intron variant)	not provided	GBenign
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 449531	NM_213599.3(ANO5):c.817C>T (p.Leu273Phe)	ANO5 (L273F +1 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +2 more	GConflicting classifications of pathogenicity
Select item 848616	NM_213599.3(ANO5):c.836G>A (p.Arg279Gln)	ANO5 (R279Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 284559	NM_213599.3(ANO5):c.845A>G (p.Tyr282Cys)	ANO5 (Y282C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 431848	NM_213599.3(ANO5):c.859C>G (p.Gln287Glu)	ANO5 (Q287E +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 384151	NM_213599.3(ANO5):c.878+17G>A	ANO5	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1292888	NM_213599.3(ANO5):c.878+215C>A	ANO5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673574	NM_213599.3(ANO5):c.879-263G>A	ANO5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228632	NM_213599.3(ANO5):c.879-132A>G	ANO5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 140564	NM_213599.3(ANO5):c.879-76T>A	ANO5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233416	NM_213599.3(ANO5):c.879-41A>T	ANO5	Single nucleotide variant (intron variant)	not provided	GBenign

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