ClinVar for MedGen (Select 69128) - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2429766	NM_021083.4(XK):c.771G>A (p.Trp257Ter)	XK (W257*)	Single nucleotide variant (nonsense)	Elevated circulating creatine kinase concentration	GLikely pathogenic
Select item 1913433	NM_000023.4(SGCA):c.956+14T>C	SGCA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GLikely benign
Select item 1806445	NM_004006.3(DMD):c.5449-2A>T	DMD	Single nucleotide variant (splice acceptor variant)	Elevated circulating creatine kinase concentration	GLikely pathogenic
Select item 1806444	NM_004006.3(DMD):c.9974+1G>C	DMD	Single nucleotide variant (splice donor variant)	Elevated circulating creatine kinase concentration	GLikely pathogenic
Select item 1703704	NM_013382.7(POMT2):c.2081C>T (p.Ser694Leu)	POMT2 (S694L)	Single nucleotide variant (missense variant)	Elevated circulating creatine kinase concentration	GUncertain significance
Select item 1691444	NM_004393.6(DAG1):c.839del (p.Pro280fs)	DAG1 (P280fs)	Deletion (frameshift variant)	Elevated circulating creatine kinase concentration	GLikely pathogenic
Select item 1349629	NM_033337.3(CAV3):c.310G>C (p.Val104Leu)	CAV3, OXTR (V104L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +5 more	GUncertain significance
Select item 1326914	NM_004006.3(DMD):c.3030_3031del (p.Pro1011fs)	DMD (P1003fs +3 more)	Microsatellite (frameshift variant)	Elevated circulating creatine kinase concentration	GLikely pathogenic
Select item 1322378	NM_004006.3(DMD):c.3433-1G>A	DMD	Single nucleotide variant (splice acceptor variant)	Elevated circulating creatine kinase concentration	GPathogenic
Select item 1236187	NM_004281.4(BAG3):c.775C>T (p.Pro259Ser)	BAG3 (P259S)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 1236186	NM_004006.3(DMD):c.4883T>C (p.Leu1628Pro)	DMD (L1505P +5 more)	Single nucleotide variant (missense variant)	Elevated circulating creatine kinase concentration	GUncertain significance
Select item 1192182	NM_213599.3(ANO5):c.754C>T (p.Leu252Phe)	ANO5 (L251F +1 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 1184997	NC_000023.11:g.32644161_32644191delins32644164_32644199inv	DMD	Indel	Elevated circulating creatine kinase concentration	GLikely pathogenic
Select item 1027668	NM_005609.4(PYGM):c.2020G>A (p.Ala674Thr)	PYGM (A586T +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GUncertain significance
Select item 1025712	NM_033337.3(CAV3):c.35A>G (p.Gln12Arg)	CAV3 (Q12R)	Single nucleotide variant (missense variant)	Long QT syndrome +5 more	GUncertain significance
Select item 1025525	NM_033337.3(CAV3):c.247C>T (p.Pro83Ser)	CAV3, OXTR (P83S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +5 more	GUncertain significance
Select item 992821	NM_021971.4(GMPPB):c.1004A>T (p.Glu335Val)	GMPPB (E335V +1 more)	Single nucleotide variant (missense variant)	Elevated circulating creatine kinase concentration	GUncertain significance
Select item 992819	NM_005609.4(PYGM):c.929G>A (p.Arg310His)	PYGM (R222H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 981184	NM_004006.3(DMD):c.1509del (p.Glu503fs)	DMD (E380fs +3 more)	Deletion (frameshift variant)	Elevated circulating creatine kinase concentration	GLikely pathogenic
Select item 973213	NM_033337.3(CAV3):c.299T>A (p.Ile100Asn)	CAV3, OXTR (I100N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +4 more	GLikely pathogenic
Select item 903140	NM_033337.3(CAV3):c.*658T>A	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 1 +5 more	GUncertain significance
Select item 902273	NM_033337.3(CAV3):c.*441T>C	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 1 +5 more	GUncertain significance
Select item 900587	NM_033337.3(CAV3):c.*134G>A	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 1 +5 more	GUncertain significance
Select item 840845	NM_033337.3(CAV3):c.310G>A (p.Val104Met)	CAV3, OXTR (V104M)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 803891	NM_004006.3(DMD):c.3603G>A (p.Lys1201=)	DMD	Single nucleotide variant (synonymous variant)	Duchenne muscular dystrophy	GConflicting classifications of pathogenicity
Select item 798090	NM_033337.3(CAV3):c.60G>A (p.Lys20=)	CAV3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GLikely benign
Select item 694513	46,Y,inv(X)(p21.1q13.3)	ABCB7, AKAP4 +268 more	Inversion	Elevated circulating creatine kinase concentration	GLikely pathogenic
Select item 599010	NM_000540.3(RYR1):c.1312G>C (p.Glu438Gln)	RYR1 (E438Q)	Single nucleotide variant (missense variant)	not provided +11 more	GUncertain significance
Select item 599009	NM_004667.6(HERC2):c.5045A>G (p.Asn1682Ser)	HERC2 (N1682S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +10 more	GUncertain significance
Select item 560377	NM_000152.5(GAA):c.4G>T (p.Gly2Ter)	GAA (G2*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database
Select item 560362	NM_021971.4(GMPPB):c.358A>G (p.Met120Val)	GMPPB (M120V)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2T	GPathogenic
Select item 523571	NM_213599.3(ANO5):c.1965G>C (p.Trp655Cys)	ANO5 (W655C +1 more)	Single nucleotide variant (missense variant)	Fatty replacement of skeletal muscle +4 more	GConflicting classifications of pathogenicity
Select item 523470	NM_004006.3(DMD):c.93+1G>C	DMD	Single nucleotide variant (splice donor variant)	Elevated circulating creatine kinase concentration +2 more	GPathogenic
Select item 523469	NM_004006.3(DMD):c.7319dup (p.Thr2441fs)	DMD (T2441fs +5 more)	Duplication (frameshift variant +1 more)	Elevated circulating creatine kinase concentration +1 more	GLikely pathogenic
Select item 523389	NM_001009944.3(PKD1):c.7567GAG[1] (p.Glu2524del)	PKD1 (E2524del)	Microsatellite (inframe_deletion)	Lower limb amyotrophy +5 more	GConflicting classifications of pathogenicity
Select item 523377	NM_000540.3(RYR1):c.1264G>A (p.Gly422Arg)	RYR1 (G422R)	Single nucleotide variant (missense variant)	Central core myopathy +7 more	GConflicting classifications of pathogenicity
Select item 523265	GRCh37/hg19 17q12(chr17:34611352-36248918)	DDX52, DHRS11 +16 more	Copy number gain	Lower limb muscle weakness +2 more	GPathogenic
Select item 507122	NM_000426.4(LAMA2):c.2450+16A>G	LAMA2	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 501741	NM_033337.3(CAV3):c.134T>A (p.Ile45Asn)	CAV3, OXTR (I45N)	Single nucleotide variant (missense variant)	Elevated circulating creatine kinase concentration +1 more	GUncertain significance
Select item 457130	NM_033337.3(CAV3):c.254C>T (p.Ala85Val)	CAV3, OXTR (A85V)	Single nucleotide variant (missense variant)	Rippling muscle disease 2 +5 more	GUncertain significance
Select item 446472	NM_213599.3(ANO5):c.364-2A>G	ANO5	Single nucleotide variant (splice acceptor variant)	Elevated circulating creatine kinase concentration	GLikely pathogenic
Select item 446469	NM_004006.3(DMD):c.650-39498A>G	DMD	Single nucleotide variant (intron variant)	Duchenne muscular dystrophy	GConflicting classifications of pathogenicity
Select item 446463	NM_003673.4(TCAP):c.90_91del (p.Ser31fs)	TCAP (S31fs)	Deletion (frameshift variant)	Abnormality of the musculature +1 more	GPathogenic/Likely pathogenic
Select item 427765	NM_004006.3(DMD):c.4071+1del	DMD	Deletion (splice donor variant)	Elevated circulating creatine kinase concentration	GLikely pathogenic
Select item 427762	NM_004006.3(DMD):c.10211del (p.Asp3404fs)	DMD (D2063fs +8 more)	Deletion (frameshift variant)	Elevated circulating creatine kinase concentration	GLikely pathogenic
Select item 424764	NM_213599.2(ANO5):c.[155A>G];[191dupA]			Miyoshi muscular dystrophy 3 +1 more	GLikely pathogenic
Select item 409259	NM_033337.3(CAV3):c.143C>G (p.Pro48Arg)	CAV3, OXTR (P48R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 409256	NM_033337.3(CAV3):c.221G>A (p.Arg74His)	CAV3, OXTR (R74H)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GUncertain significance
Select item 409255	NM_033337.3(CAV3):c.125A>C (p.Glu42Ala)	CAV3, OXTR (E42A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GUncertain significance
Select item 409254	NM_033337.3(CAV3):c.182G>A (p.Ser61Asn)	CAV3, OXTR (S61N)	Single nucleotide variant (missense variant)	Long QT syndrome +6 more	GUncertain significance
Select item 373680	NM_000540.3(RYR1):c.5000G>A (p.Arg1667His)	RYR1 (R1667H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +10 more	GUncertain significance
Select item 369655	NM_004006.3(DMD):c.6139C>T (p.Gln2047Ter)	DMD (Q2047* +5 more)	Single nucleotide variant (nonsense)	Elevated circulating creatine kinase concentration	GPathogenic
Select item 346863	NM_033337.3(CAV3):c.*852G>A	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +7 more	GUncertain significance
Select item 346862	NM_033337.3(CAV3):c.*834A>T	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +7 more	GUncertain significance
Select item 346857	NM_033337.3(CAV3):c.*741G>A	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Caveolinopathy +7 more	GUncertain significance
Select item 346854	NM_033337.3(CAV3):c.*592G>A	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Caveolinopathy +7 more	GUncertain significance
Select item 291316	NM_004006.3(DMD):c.9527A>G (p.Asp3176Gly)	DMD (D3176G +8 more)	Single nucleotide variant (missense variant)	Elevated circulating creatine kinase concentration	GLikely pathogenic
Select item 291313	NM_213599.3(ANO5):c.758A>C (p.His253Pro)	ANO5 (H253P +1 more)	Single nucleotide variant (missense variant)	Elevated circulating creatine kinase concentration	GLikely pathogenic
Select item 291311	NM_012210.4(TRIM32):c.1365_1366dup (p.Thr456fs)	ASTN2, TRIM32 (T456fs)	Microsatellite (frameshift variant +1 more)	Elevated circulating creatine kinase concentration	GPathogenic
Select item 290919	NM_033337.3(CAV3):c.10_17del (p.Glu4fs)	CAV3 (E4fs)	Deletion (frameshift variant)	Long QT syndrome +3 more	GConflicting classifications of pathogenicity
Select item 288112	NM_033337.3(CAV3):c.400G>A (p.Ala134Thr)	CAV3, OXTR (A134T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 286450	NM_213599.3(ANO5):c.1664G>T (p.Ser555Ile)	ANO5 (S555I +1 more)	Single nucleotide variant (missense variant)	Miyoshi muscular dystrophy 3 +8 more	GPathogenic/Likely pathogenic
Select item 279736	NM_033337.3(CAV3):c.401C>T (p.Ala134Val)	CAV3, OXTR (A134V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GUncertain significance
Select item 224400	NM_000540.3(RYR1):c.11599C>T (p.Arg3867Cys)	RYR1 (R3867C +1 more)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 217217	NM_004006.3(DMD):c.9204_9207del (p.Asn3068fs)	DMD (N3064fs +7 more)	Microsatellite (frameshift variant)	not provided +2 more	GPathogenic
Select item 214916	NM_130837.3(OPA1):c.113_130del (p.Arg38_Ser43del)	OPA1	Deletion (inframe_deletion +1 more)	not provided +12 more	GConflicting classifications of pathogenicity
Select item 180800	NM_033337.3(CAV3):c.433G>A (p.Val145Met)	OXTR, CAV3 (V145M)	Single nucleotide variant (missense variant)	not specified +8 more	GUncertain significance
Select item 92980	NM_000426.4(LAMA2):c.6955C>T (p.Arg2319Ter)	LAMA2 (R2319*)	Single nucleotide variant (nonsense)	LAMA2-related muscular dystrophy +5 more	GPathogenic
Select item 92408	NM_000070.3(CAPN3):c.1746-20C>G	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 46536	NM_033337.3(CAV3):c.336C>T (p.Ile112=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 1 +10 more	GBenign/Likely benign
Select item 31740	NM_033337.3(CAV3):c.114+2T>C	CAV3	Single nucleotide variant (splice donor variant)	Long QT syndrome +5 more	GPathogenic
Select item 17621	NM_000070.3(CAPN3):c.550del (p.Thr184fs)	CAPN3 (T184fs)	Deletion (frameshift variant)	Elevated circulating creatine kinase concentration +24 more	GPathogenic
Select item 8287	NM_033337.3(CAV3):c.86C>T (p.Pro29Leu)	CAV3 (P29L)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 8286	NM_033337.3(CAV3):c.290_292del (p.Phe97del)	CAV3, OXTR (F97del)	Deletion (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 8283	NM_033337.3(CAV3):c.80G>A (p.Arg27Gln)	CAV3, SSUH2 (R27Q)	Single nucleotide variant (missense variant)	Distal myopathy, Tateyama type +6 more	GPathogenic
Select item 8281	NM_033337.3(CAV3):c.136G>A (p.Ala46Thr)	CAV3, OXTR (A46T)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 8279	NM_033337.2(CAV3):c.216C>G (p.Cys72Trp)	CAV3, OXTR (C72W)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 8278	NM_033337.3(CAV3):c.166G>A (p.Gly56Ser)	CAV3, OXTR (G56S)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy +13 more	GBenign/Likely benign
Select item 4200	NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe)	GDAP1 (L239F +3 more)	Single nucleotide variant (missense variant +1 more)	Peripheral axonal neuropathy +11 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

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Items: 80