"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "ANO5"[g - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more	GUncertain significance
Select item 450824	NM_213599.3(ANO5):c.11C>A (p.Pro4Gln)	ANO5 (P4Q)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +2 more	GUncertain significance
Select item 284382	NM_213599.3(ANO5):c.11C>G (p.Pro4Arg)	ANO5 (P4R)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +2 more	GUncertain significance
Select item 2929973	NM_213599.3(ANO5):c.13G>A (p.Asp5Asn)	ANO5 (D5N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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)	Gnathodiaphyseal dysplasia +2 more	GConflicting classifications of pathogenicity
Select item 289249	NM_213599.3(ANO5):c.19C>T (p.Leu7=)	ANO5	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +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)	Gnathodiaphyseal dysplasia +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)	not provided +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)	Autosomal recessive limb-girdle muscular dystrophy type 2L +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)	Gnathodiaphyseal dysplasia +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 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)	Autosomal recessive limb-girdle muscular dystrophy type 2L +2 more	GPathogenic/Likely pathogenic
Select item 1052545	NM_213599.3(ANO5):c.43G>C (p.Glu15Gln)	ANO5 (E15Q)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 283509	NM_213599.3(ANO5):c.44A>G (p.Glu15Gly)	ANO5 (E15G)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 468846	NM_213599.3(ANO5):c.87G>A (p.Glu29=)	ANO5	Single nucleotide variant (synonymous variant)	Gnathodiaphyseal dysplasia +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)	Gnathodiaphyseal dysplasia +2 more	GConflicting classifications of pathogenicity
Select item 1529297	NM_213599.3(ANO5):c.87+17T>C	ANO5	Single nucleotide variant (intron variant)	Gnathodiaphyseal dysplasia +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 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)	Miyoshi myopathy +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)	Autosomal recessive limb-girdle muscular dystrophy type 2L +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)	Gnathodiaphyseal dysplasia +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)	not provided +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)	Gnathodiaphyseal dysplasia +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)	Gnathodiaphyseal dysplasia +1 more	GLikely benign
Select item 568817	NM_213599.3(ANO5):c.136A>G (p.Met46Val)	ANO5 (M46V +1 more)	Single nucleotide variant (missense variant)	not provided +3 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 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)	Gnathodiaphyseal dysplasia +1 more	GLikely benign
Select item 2949166	NM_213599.3(ANO5):c.138+14_138+23del	ANO5	Deletion (intron variant)	Gnathodiaphyseal dysplasia +1 more	GLikely benign
Select item 2147365	NM_213599.3(ANO5):c.138+12C>A	ANO5	Single nucleotide variant (intron variant)	Gnathodiaphyseal dysplasia +1 more	GLikely benign
Select item 1942741	NM_213599.3(ANO5):c.138+17A>C	ANO5	Single nucleotide variant (intron variant)	Gnathodiaphyseal dysplasia +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 286467	NM_213599.3(ANO5):c.139-1del	ANO5	Deletion (splice acceptor variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy	GUncertain significanceFDA Recognized database
Select item 584414	NC_000011.10:g.(?_22218246)_(22221210_?)del	ANO5	Deletion	Gnathodiaphyseal dysplasia +1 more	GLikely pathogenic
Select item 288900	NM_213599.3(ANO5):c.139C>T (p.Pro47Ser)	ANO5 (P47S +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +2 more	GUncertain significance
Select item 2929769	NM_213599.3(ANO5):c.140C>T (p.Pro47Leu)	ANO5 (P47L +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more	GUncertain significance
Select item 843439	NM_213599.3(ANO5):c.142G>A (p.Ala48Thr)	ANO5 (A48T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more	GUncertain significance
Select item 1378007	NM_213599.3(ANO5):c.146A>G (p.Lys49Arg)	ANO5 (K48R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more	GUncertain significance
Select item 468825	NM_213599.3(ANO5):c.148C>T (p.Arg50Ter)	ANO5 (R50* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy	GPathogenicFDA Recognized database
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 1495256	NM_213599.3(ANO5):c.169C>G (p.Arg57Gly)	ANO5 (R57G +1 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +1 more	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 392450	NM_213599.3(ANO5):c.170G>A (p.Arg57Gln)	ANO5 (R57Q +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +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)	Autosomal recessive limb-girdle muscular dystrophy	GPathogenicFDA Recognized database
Select item 568212	NM_213599.3(ANO5):c.173G>T (p.Arg58Leu)	ANO5 (R58L +1 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 497402	NM_213599.3(ANO5):c.173G>A (p.Arg58Gln)	ANO5 (R58Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 631656	NM_213599.3(ANO5):c.180+2T>C	ANO5	Single nucleotide variant (splice donor variant +1 more)	ANO5-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1987289	NM_213599.3(ANO5):c.180+6A>G	ANO5	Single nucleotide variant (intron variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 507273	NM_213599.3(ANO5):c.181-18C>T	ANO5	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +2 more	GLikely benign
Select item 384273	NM_213599.3(ANO5):c.181-16T>C	ANO5	Single nucleotide variant (intron variant)	Gnathodiaphyseal dysplasia +2 more	GLikely benign
Select item 1133904	NM_213599.3(ANO5):c.181-5T>C	ANO5	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more	GLikely benign
Select item 595120	NM_213599.3(ANO5):c.181-4G>A	ANO5	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1466250	NM_213599.3(ANO5):c.181-3C>T	ANO5	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more	GUncertain significance
Select item 2164	NM_213599.3(ANO5):c.191dup (p.Asn64fs)	ANO5 (N63fs +1 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy	GPathogenicFDA Recognized database
Select item 283746	NM_213599.3(ANO5):c.185A>G (p.Gln62Arg)	ANO5 (Q62R +1 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +2 more	GUncertain significance
Select item 1506063	NM_213599.3(ANO5):c.197A>G (p.Gln66Arg)	ANO5 (Q66R +1 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 2930579	NM_213599.3(ANO5):c.211A>G (p.Ile71Val)	ANO5 (I71V +3 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 2930734	NM_213599.3(ANO5):c.213C>T (p.Ile71=)	ANO5	Single nucleotide variant (synonymous variant)	Gnathodiaphyseal dysplasia +1 more	GLikely benign
Select item 536729	NM_213599.3(ANO5):c.220C>T (p.Arg74Ter)	ANO5 (R74* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more	GPathogenic
Select item 289474	NM_213599.3(ANO5):c.223G>C (p.Asp75His)	ANO5 (D75H +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +2 more	GUncertain significance
Select item 763271	NM_213599.3(ANO5):c.225T>C (p.Asp75=)	ANO5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2931805	NM_213599.3(ANO5):c.226G>A (p.Gly76Arg)	ANO5 (G61R +3 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 1556232	NM_213599.3(ANO5):c.228G>A (p.Gly76=)	ANO5	Single nucleotide variant (synonymous variant)	Gnathodiaphyseal dysplasia +1 more	GLikely benign
Select item 1972226	NM_213599.3(ANO5):c.230T>G (p.Ile77Ser)	ANO5 (I63S +3 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 1668881	NM_213599.3(ANO5):c.234G>A (p.Arg78=)	ANO5	Single nucleotide variant (synonymous variant)	Gnathodiaphyseal dysplasia +1 more	GLikely benign
Select item 96679	NM_213599.3(ANO5):c.242A>G (p.Asp81Gly)	ANO5 (D80G)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 2947083	NM_213599.3(ANO5):c.246del (p.Phe82fs)	ANO5 (F68fs +3 more)	Deletion (frameshift variant)	Gnathodiaphyseal dysplasia +1 more	GPathogenic
Select item 1603432	NM_213599.3(ANO5):c.246T>C (p.Phe82=)	ANO5	Single nucleotide variant (synonymous variant)	Gnathodiaphyseal dysplasia +1 more	GLikely benign
Select item 1457438	NM_213599.3(ANO5):c.258C>A (p.Tyr86Ter)	ANO5 (Y85* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic

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