203859[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154432	GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1	ABTB2, ANO3 +283 more	Copy number loss	See cases	GPathogenic
Select item 148413	GRCh38/hg38 11p15.1-14.3(chr11:21719827-22246371)x1	LOC126861160, LOC130005437 +10 more	Copy number loss	See cases	GUncertain significance
Select item 148783	GRCh38/hg38 11p15.1-14.2(chr11:21838014-26738627)x3	ANO3, ANO3-AS1 +49 more	Copy number gain	See cases	GUncertain significance
Select item 151703	GRCh38/hg38 11p15.1-14.3(chr11:21892994-22246371)x1	ANO5, LOC130005437 +6 more	Copy number loss	See cases	GUncertain significance
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 57152	GRCh38/hg38 11p14.3(chr11:22080659-22389549)x1	ANO5, LOC126861161 +9 more	Copy number loss	See cases	GPathogenic
Select item 58857	GRCh38/hg38 11p14.3(chr11:22115602-25375696)x1	ANO5, CCDC179 +38 more	Copy number loss	See cases	GPathogenic
Select item 151352	GRCh38/hg38 11p14.3(chr11:22162150-22321563)x3	ANO5, LOC126861161 +8 more	Copy number gain	See cases	GUncertain significance
Select item 2439127	NM_213599.2(ANO5):c.-907C>G	ANO5, LOC130005438	Single nucleotide variant (genic upstream transcript variant)	not provided	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 878638	NM_213599.3(ANO5):c.-251T>G	ANO5	Single nucleotide variant (5 prime UTR variant)	ANO5-Related Muscle Diseases	GUncertain significance
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 304091	NM_213599.3(ANO5):c.-210G>C	ANO5	Single nucleotide variant (5 prime UTR variant)	ANO5-Related Muscle Diseases +2 more	GUncertain significance
Select item 879235	NM_213599.3(ANO5):c.-201C>A	ANO5	Single nucleotide variant (5 prime UTR variant)	ANO5-Related Muscle Diseases	GUncertain significance
Select item 304092	NM_213599.3(ANO5):c.-194G>T	ANO5	Single nucleotide variant (5 prime UTR variant)	ANO5-Related Muscle Diseases +2 more	GUncertain significance
Select item 304093	NM_213599.3(ANO5):c.-161_-156AGG[3]GGAATGAGGAGGAGGAGGAGG[1]	ANO5	Microsatellite (5 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Recessive +2 more	GBenign
Select item 140545	NM_213599.3(ANO5):c.-162A>G	ANO5	Single nucleotide variant (5 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Recessive +2 more	GUncertain significance
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 304094	NM_213599.3(ANO5):c.-65G>C	ANO5, LOC130005441	Single nucleotide variant (5 prime UTR variant)	Miyoshi myopathy +2 more	GUncertain significance
Select item 502204	NM_213599.3(ANO5):c.-15_2dup (p.Met1fs)	ANO5 (M1fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 498513	NM_213599.3(ANO5):c.-1G>A	ANO5	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 497707	NM_213599.3(ANO5):c.6C>T (p.Gly2=)	ANO5	Single nucleotide variant (synonymous variant)	Gnathodiaphyseal dysplasia +2 more	GUncertain significance
Select item 2943432	NM_213599.3(ANO5):c.11C>T (p.Pro4Leu)	ANO5 (P4L)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 450824	NM_213599.3(ANO5):c.11C>A (p.Pro4Gln)	ANO5 (P4Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 284382	NM_213599.3(ANO5):c.11C>G (p.Pro4Arg)	ANO5 (P4R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2929973	NM_213599.3(ANO5):c.13G>A (p.Asp5Asn)	ANO5 (D5N)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +2 more	GConflicting classifications of pathogenicity
Select item 2923923	NM_213599.3(ANO5):c.16C>T (p.Leu6Phe)	ANO5 (L6F)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more	GUncertain significance
Select item 468835	NM_213599.3(ANO5):c.18C>T (p.Leu6=)	ANO5	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 289249	NM_213599.3(ANO5):c.19C>T (p.Leu7=)	ANO5	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2045972	NM_213599.3(ANO5):c.22G>A (p.Glu8Lys)	ANO5 (E8K)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more	GUncertain significance
Select item 1444713	NM_213599.3(ANO5):c.22G>C (p.Glu8Gln)	ANO5 (E8Q)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more	GUncertain significance
Select item 1396797	NM_213599.3(ANO5):c.22G>T (p.Glu8Ter)	ANO5 (E8*)	Single nucleotide variant (nonsense)	Gnathodiaphyseal dysplasia +1 more	GPathogenic
Select item 646000	NM_213599.3(ANO5):c.31G>A (p.Ala11Thr)	ANO5 (A11T)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 570787	NM_213599.3(ANO5):c.39A>G (p.Glu13=)	ANO5	Single nucleotide variant (synonymous variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 1709978	NM_213599.3(ANO5):c.40G>A (p.Gly14Arg)	ANO5 (G14R)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +2 more	GConflicting classifications of pathogenicity
Select item 2434185	NM_213599.3(ANO5):c.40+2T>C	ANO5	Single nucleotide variant (splice donor variant)	not provided +2 more	GLikely pathogenic
Select item 2927385	NM_213599.3(ANO5):c.40+7C>G	ANO5	Single nucleotide variant (intron variant)	Gnathodiaphyseal dysplasia +1 more	GLikely benign
Select item 2934713	NM_213599.3(ANO5):c.40+8C>T	ANO5	Single nucleotide variant (intron variant)	Gnathodiaphyseal dysplasia +1 more	GLikely benign
Select item 1950555	NM_213599.3(ANO5):c.40+9G>C	ANO5	Single nucleotide variant (intron variant)	Gnathodiaphyseal dysplasia +1 more	GLikely benign
Select item 2934679	NM_213599.3(ANO5):c.40+12C>T	ANO5	Single nucleotide variant (intron variant)	Gnathodiaphyseal dysplasia +1 more	GLikely benign
Select item 2000203	NM_213599.3(ANO5):c.40+18_40+19delinsTC	ANO5	Indel (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more	GUncertain significance
Select item 2936455	NM_213599.3(ANO5):c.40+20C>T	ANO5	Single nucleotide variant (intron variant)	Gnathodiaphyseal dysplasia +1 more	GLikely benign
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 152043	GRCh38/hg38 11p14.3(chr11:22195749-22953436)x1	ANO5, CCDC179 +21 more	Copy number loss	See cases	GUncertain significance
Select item 669073	NM_213599.3(ANO5):c.41-15_41-12del	ANO5	Microsatellite (intron variant)	not provided +2 more	GLikely benign
Select item 1393170	NM_213599.3(ANO5):c.41-4T>A	ANO5	Single nucleotide variant (intron variant)	Gnathodiaphyseal dysplasia +1 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 1052545	NM_213599.3(ANO5):c.43G>C (p.Glu15Gln)	ANO5 (E15Q)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more	GUncertain significance
Select item 283509	NM_213599.3(ANO5):c.44A>G (p.Glu15Gly)	ANO5 (E15G)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +2 more	GUncertain significance
Select item 1362404	NM_213599.3(ANO5):c.49G>A (p.Val17Ile)	ANO5 (V17I)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 1528816	NM_213599.3(ANO5):c.51C>A (p.Val17=)	ANO5	Single nucleotide variant (synonymous variant)	Gnathodiaphyseal dysplasia +1 more	GLikely benign
Select item 583189	NM_213599.3(ANO5):c.53A>G (p.Asn18Ser)	ANO5 (N18S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2294774	NM_213599.3(ANO5):c.57G>C (p.Lys19Asn)	ANO5 (K19N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 304095	NM_213599.3(ANO5):c.79A>C (p.Met27Leu)	ANO5 (M27L)	Single nucleotide variant (missense variant)	ANO5-Related Muscle Diseases +2 more	GUncertain significance
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 1366327	NM_213599.3(ANO5):c.87+3A>G	ANO5	Single nucleotide variant (intron variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 597826	NM_213599.3(ANO5):c.87+10A>C	ANO5	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +2 more	GConflicting classifications of pathogenicity
Select item 1529297	NM_213599.3(ANO5):c.87+17T>C	ANO5	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more	GLikely benign
Select item 1976576	NM_213599.3(ANO5):c.87+20A>G	ANO5	Single nucleotide variant (intron variant)	Gnathodiaphyseal dysplasia +1 more	GLikely benign
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 1546992	NM_213599.3(ANO5):c.88-16C>A	ANO5	Single nucleotide variant (intron variant)	Gnathodiaphyseal dysplasia +1 more	GLikely benign
Select item 304096	NM_213599.3(ANO5):c.88-14C>T	ANO5	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +4 more	GConflicting classifications of pathogenicity
Select item 1458278	NM_213599.3(ANO5):c.88-12del	ANO5	Deletion (intron variant)	Gnathodiaphyseal dysplasia +1 more	GLikely benign
Select item 2951229	NM_213599.3(ANO5):c.88-8A>T	ANO5	Single nucleotide variant (intron variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 1118102	NM_213599.3(ANO5):c.88-8A>G	ANO5	Single nucleotide variant (intron variant)	Gnathodiaphyseal dysplasia +1 more	GLikely benign
Select item 741739	NM_213599.3(ANO5):c.88-5G>A	ANO5	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more	GLikely benign
Select item 2935816	NM_213599.3(ANO5):c.88-1G>A	ANO5	Single nucleotide variant (splice acceptor variant +1 more)	Gnathodiaphyseal dysplasia +1 more	GLikely pathogenic
Select item 468847	NM_213599.3(ANO5):c.88C>G (p.Gln30Glu)	ANO5 (Q30E)	Single nucleotide variant (missense variant +1 more)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 964567	NM_213599.3(ANO5):c.103A>G (p.Arg35Gly)	ANO5 (R35G +1 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 288833	NM_213599.3(ANO5):c.108_109del (p.Glu36fs)	ANO5 (E36fs +1 more)	Microsatellite (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +2 more	GPathogenic
Select item 1469277	NM_213599.3(ANO5):c.108G>C (p.Glu36Asp)	ANO5 (E35D +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more	GUncertain significance
Select item 468830	NM_213599.3(ANO5):c.108G>T (p.Glu36Asp)	ANO5 (E36D +1 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 1365033	NM_213599.3(ANO5):c.113G>A (p.Ser38Asn)	ANO5 (S38N +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more	GUncertain significance
Select item 2947284	NM_213599.3(ANO5):c.114C>T (p.Ser38=)	ANO5	Single nucleotide variant (synonymous variant)	Gnathodiaphyseal dysplasia +1 more	GLikely benign
Select item 2945644	NM_213599.3(ANO5):c.123C>G (p.Ile41Met)	ANO5 (I41M +1 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 1100663	NM_213599.3(ANO5):c.129A>G (p.Glu43=)	ANO5	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more	GLikely benign
Select item 497368	NM_213599.3(ANO5):c.130G>A (p.Glu44Lys)	ANO5 (E44K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 568817	NM_213599.3(ANO5):c.136A>G (p.Met46Val)	ANO5 (M46V +1 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +2 more	GUncertain significance
Select item 2110063	NM_213599.3(ANO5):c.137T>A (p.Met46Lys)	ANO5 (M45K +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more	GUncertain significance
Select item 2055302	NM_213599.3(ANO5):c.137T>C (p.Met46Thr)	ANO5 (M46T +1 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 597656	NM_213599.3(ANO5):c.138+6C>G	ANO5	Single nucleotide variant (intron variant)	Gnathodiaphyseal dysplasia +2 more	GUncertain significance
Select item 304097	NM_213599.3(ANO5):c.138+7A>G	ANO5	Single nucleotide variant (intron variant)	ANO5-Related Muscle Diseases +2 more	GUncertain significance
Select item 1957841	NM_213599.3(ANO5):c.138+9C>T	ANO5	Single nucleotide variant (intron variant)	Gnathodiaphyseal dysplasia +2 more	GConflicting classifications of pathogenicity
Select item 304098	NM_213599.3(ANO5):c.138+10G>A	ANO5	Single nucleotide variant (intron variant)	Miyoshi myopathy +4 more	GConflicting classifications of pathogenicity
Select item 2938565	NM_213599.3(ANO5):c.138+11A>G	ANO5	Single nucleotide variant (intron variant)	Gnathodiaphyseal dysplasia +1 more	GLikely benign
Select item 2119163	NM_213599.3(ANO5):c.138+11del	ANO5	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more	GLikely benign
Select item 2949166	NM_213599.3(ANO5):c.138+14_138+23del	ANO5	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more	GLikely benign
Select item 2147365	NM_213599.3(ANO5):c.138+12C>A	ANO5	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more	GLikely benign
Select item 682061	NM_213599.3(ANO5):c.138+14A>G	ANO5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1942741	NM_213599.3(ANO5):c.138+17A>C	ANO5	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more	GLikely benign
Select item 2142394	NM_213599.3(ANO5):c.138+20A>G	ANO5	Single nucleotide variant (intron variant)	Gnathodiaphyseal dysplasia +1 more	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)	not provided +3 more	GBenign
Select item 140548	NM_213599.3(ANO5):c.138+206T>C	ANO5	Single nucleotide variant (intron variant)	not provided	GBenign

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