ClinVar for MedGen (Select 1645741) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341338	NM_001005361.3(DNM2):c.161G>A (p.Arg54Gln)	LOC130063529, DNM2 (R54Q)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy	GUncertain significance
Select item 2661904	NM_001077525.3(MTMR14):c.1888G>A (p.Gly630Arg)	MTMR14 (G231R +27 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2580181	NM_001005361.3(DNM2):c.37G>C (p.Val13Leu)	DNM2, LOC130063529 (V13L)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy	GUncertain significance
Select item 2506371	NM_001005361.3(DNM2):c.1781G>A (p.Arg594Lys)	DNM2 (R590K +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy	GLikely pathogenic
Select item 1933766	NM_002469.3(MYF6):c.145C>G (p.Pro49Ala)	MYF6 (P49A)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy	GUncertain significance
Select item 1705621	NM_001005361.3(DNM2):c.1840G>A (p.Asp614Asn)	DNM2 (D610N +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy	GLikely pathogenic
Select item 1514876	NM_002469.3(MYF6):c.649C>T (p.Arg217Ter)	MYF6 (R217*)	Single nucleotide variant (nonsense)	Autosomal dominant centronuclear myopathy	GUncertain significance
Select item 1434904	NM_002469.3(MYF6):c.91T>C (p.Ser31Pro)	MYF6 (S31P)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy	GUncertain significance
Select item 1429562	NM_002469.3(MYF6):c.17T>G (p.Phe6Cys)	MYF6 (F6C)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy	GUncertain significance
Select item 1414913	NM_002469.3(MYF6):c.273dup (p.Thr92fs)	MYF6 (T92fs)	Duplication (frameshift variant)	Autosomal dominant centronuclear myopathy	GUncertain significance
Select item 1400907	NM_002469.3(MYF6):c.104C>T (p.Pro35Leu)	MYF6 (P35L)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy	GUncertain significance
Select item 1299475	NM_001005361.3(DNM2):c.1196+647G>T	DNM2 (A408S)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant centronuclear myopathy	GUncertain significance
Select item 1251921	NM_001005361.3(DNM2):c.982G>A (p.Ala328Thr)	DNM2 (A328T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B +1 more	GUncertain significance
Select item 1170677	NM_002469.3(MYF6):c.292G>T (p.Ala98Ser)	MYF6 (A98S)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy	GBenign
Select item 1080296	NM_002469.3(MYF6):c.478C>T (p.Leu160=)	MYF6	Single nucleotide variant (synonymous variant)	Autosomal dominant centronuclear myopathy	GLikely benign
Select item 1060278	NM_002469.3(MYF6):c.520-3C>T	MYF6	Single nucleotide variant (intron variant)	Autosomal dominant centronuclear myopathy	GUncertain significance
Select item 1043663	NM_002469.3(MYF6):c.683C>T (p.Ser228Leu)	MYF6 (S228L)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy	GUncertain significance
Select item 1039100	NM_002469.3(MYF6):c.280C>T (p.Arg94Trp)	MYF6 (R94W)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy	GUncertain significance
Select item 1038226	NM_002469.3(MYF6):c.511C>G (p.Gln171Glu)	MYF6 (Q171E)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy +1 more	GUncertain significance
Select item 1034631	NM_002469.3(MYF6):c.193C>T (p.Pro65Ser)	MYF6 (P65S)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy	GUncertain significance
Select item 1032514	NM_001005361.3(DNM2):c.4G>A (p.Gly2Ser)	DNM2, LOC130063529 (G2S)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy	GUncertain significance
Select item 1032513	NM_001005361.3(DNM2):c.1552A>C (p.Ile518Leu)	DNM2 (I518L)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease dominant intermediate B +1 more	GConflicting classifications of pathogenicity
Select item 1029989	NM_001005361.3(DNM2):c.2411T>C (p.Phe804Ser)	DNM2 (F804S +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy +1 more	GUncertain significance
Select item 1028507	NM_001077525.3(MTMR14):c.199C>T (p.Arg67Ter)	MTMR14 (R67*)	Single nucleotide variant (nonsense)	Autosomal dominant centronuclear myopathy +1 more	GConflicting classifications of pathogenicity
Select item 1011466	NM_002469.3(MYF6):c.623T>C (p.Ile208Thr)	MYF6 (I208T)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy	GUncertain significance
Select item 943810	NM_002469.3(MYF6):c.288A>T (p.Lys96Asn)	MYF6 (K96N)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy	GUncertain significance
Select item 940107	NM_002469.3(MYF6):c.183T>G (p.His61Gln)	MYF6 (H61Q)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy	GUncertain significance
Select item 939601	NM_002469.3(MYF6):c.691C>G (p.Arg231Gly)	MYF6 (R231G)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy	GUncertain significance
Select item 931135	NM_001005361.3(DNM2):c.1948G>A (p.Glu650Lys)	DNM2 (E646K +1 more)	Single nucleotide variant (missense variant)	Centronuclear myopathy	GLikely pathogenic FDA Recognized database
Select item 930739	NM_001077525.3(MTMR14):c.1174T>C (p.Phe392Leu)	MTMR14 (F392L)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy	GUncertain significance
Select item 930442	NM_001077525.3(MTMR14):c.1390G>A (p.Ala464Thr)	MTMR14 (A464T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 930433	NM_001005361.3(DNM2):c.2376_2378del (p.Leu793del)	DNM2 (L793del +1 more)	Deletion (inframe_deletion)	Autosomal dominant centronuclear myopathy	GUncertain significance
Select item 930350	NM_001005361.3(DNM2):c.2292-8C>A	DNM2	Single nucleotide variant (intron variant)	Autosomal dominant centronuclear myopathy +1 more	GUncertain significance
Select item 892101	NM_001005361.3(DNM2):c.-116C>T	DNM2, LOC130063529	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease dominant intermediate B +1 more	GUncertain significance
Select item 891185	NM_001005361.3(DNM2):c.*379C>T	DNM2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant centronuclear myopathy +1 more	GUncertain significance
Select item 891184	NM_001005361.3(DNM2):c.*373G>A	DNM2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant centronuclear myopathy +1 more	GUncertain significance
Select item 891183	NM_001005361.3(DNM2):c.*321A>G	DNM2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease dominant intermediate B +1 more	GBenign
Select item 891050	NM_001005361.3(DNM2):c.1962G>A (p.Glu654=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B +1 more	GUncertain significance
Select item 890989	NM_001005361.3(DNM2):c.1400G>A (p.Arg467Gln)	DNM2 (R467Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B +2 more	GConflicting classifications of pathogenicity
Select item 890988	NM_001005361.3(DNM2):c.1372C>A (p.Arg458=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B +1 more	GConflicting classifications of pathogenicity
Select item 890633	NM_001005361.3(DNM2):c.*214C>T	DNM2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant centronuclear myopathy +1 more	GUncertain significance
Select item 890632	NM_001005361.3(DNM2):c.*185A>C	DNM2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant centronuclear myopathy +1 more	GUncertain significance
Select item 890567	NM_001005361.3(DNM2):c.2438C>T (p.Pro813Leu)	DNM2 (P813L +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy +1 more	GUncertain significance
Select item 890566	NM_001005361.3(DNM2):c.2432C>T (p.Ser811Phe)	DNM2 (S807F +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy +1 more	GUncertain significance
Select item 890417	NM_001005361.3(DNM2):c.1196+710G>A	DNM2 (D429N)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant centronuclear myopathy +3 more	GConflicting classifications of pathogenicity
Select item 889679	NM_001005361.3(DNM2):c.*751T>A	DNM2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant centronuclear myopathy +1 more	GUncertain significance
Select item 889678	NM_001005361.3(DNM2):c.*716C>T	DNM2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease dominant intermediate B +1 more	GUncertain significance
Select item 888990	NM_001005361.3(DNM2):c.*671T>C	DNM2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant centronuclear myopathy +1 more	GBenign
Select item 888872	NM_001005361.3(DNM2):c.2414C>T (p.Ser805Leu)	DNM2 (S805L +1 more)	Single nucleotide variant (missense variant)	Centronuclear myopathy	GBenign FDA Recognized database
Select item 888871	NM_001005361.3(DNM2):c.2358C>A (p.Gly786=)	DNM2	Single nucleotide variant (synonymous variant)	Autosomal dominant centronuclear myopathy +1 more	GUncertain significance
Select item 888870	NM_001005361.3(DNM2):c.2194G>A (p.Ala732Thr)	DNM2 (A728T +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy +1 more	GUncertain significance
Select item 888785	NM_001005361.3(DNM2):c.1671+14G>A	DNM2	Single nucleotide variant (intron variant)	Autosomal dominant centronuclear myopathy +1 more	GBenign/Likely benign
Select item 888784	NM_001005361.3(DNM2):c.1511C>T (p.Thr504Met)	DNM2 (T504M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 888712	NM_001005361.3(DNM2):c.823C>A (p.Pro275Thr)	DNM2 (P275T)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy +1 more	GUncertain significance
Select item 888711	NM_001005361.3(DNM2):c.808G>A (p.Asp270Asn)	DNM2 (D270N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 870614	NM_001005361.3(DNM2):c.1893+1G>A	DNM2	Single nucleotide variant (splice donor variant)	Autosomal dominant centronuclear myopathy +1 more	GConflicting classifications of pathogenicity
Select item 853679	NM_002469.3(MYF6):c.220C>T (p.Pro74Ser)	MYF6 (P74S)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy +1 more	GUncertain significance
Select item 840187	NM_002469.3(MYF6):c.176A>T (p.Glu59Val)	MYF6 (E59V)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy	GUncertain significance
Select item 837609	NM_002469.3(MYF6):c.352C>G (p.Arg118Gly)	MYF6 (R118G)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy +1 more	GUncertain significance
Select item 835823	NM_002469.3(MYF6):c.459G>C (p.Gln153His)	MYF6 (Q153H)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy	GUncertain significance
Select item 816845	NM_005876.5(SPEG):c.6971T>A (p.Ile2324Asn)	SPEG, ASIC4-AS1 (I2324N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 809415	NM_001077525.3(MTMR14):c.1144C>T (p.Arg382Trp)	MTMR14 (R382W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 767138	NM_001005361.3(DNM2):c.1782-6C>T	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B +1 more	GConflicting classifications of pathogenicity
Select item 758194	NM_002469.3(MYF6):c.294C>T (p.Ala98=)	MYF6	Single nucleotide variant (synonymous variant)	Autosomal dominant centronuclear myopathy	GLikely benign
Select item 718835	NM_002469.3(MYF6):c.355C>A (p.Arg119=)	MYF6	Single nucleotide variant (synonymous variant)	Autosomal dominant centronuclear myopathy	GLikely benign
Select item 702869	NM_001005361.3(DNM2):c.625C>T (p.Leu209=)	DNM2	Single nucleotide variant (synonymous variant)	Autosomal dominant centronuclear myopathy +1 more	GConflicting classifications of pathogenicity
Select item 700468	NM_001005361.3(DNM2):c.1558-7C>A	DNM2	Single nucleotide variant (intron variant)	Autosomal dominant centronuclear myopathy +1 more	GBenign
Select item 694734	NM_001005361.3(DNM2):c.1810G>A (p.Glu604Lys)	DNM2 (E600K +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B +2 more	GConflicting classifications of pathogenicity
Select item 664504	NM_001005361.3(DNM2):c.497G>A (p.Arg166Gln)	DNM2 (R166Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 658350	NM_002469.3(MYF6):c.79G>A (p.Val27Met)	MYF6 (V27M)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 657486	NM_001005361.3(DNM2):c.1852G>T (p.Ala618Ser)	DNM2 (A614S +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy +1 more	GUncertain significance
Select item 656321	NM_001005361.3(DNM2):c.695T>C (p.Ile232Thr)	DNM2 (I232T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 634542	NM_000252.3(MTM1):c.1533C>A (p.Asn511Lys)	MTM1 (N511K +1 more)	Single nucleotide variant (missense variant)	Severe X-linked myotubular myopathy +1 more	GUncertain significance
Select item 631486	NM_002478.5(MYOD1):c.557dup (p.Arg188fs)	MYOD1 (R188fs)	Duplication (frameshift variant)	Autosomal dominant centronuclear myopathy +1 more	GPathogenic
Select item 619283	NM_001077525.3(MTMR14):c.1790G>A (p.Arg597Gln)	MTMR14 (R597Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 583793	NC_000012.11:g.(?_80128594)_(81102759_?)del	MYF6, OTOGL +2 more	Deletion	Autosomal dominant centronuclear myopathy	GUncertain significance
Select item 578567	NM_002469.3(MYF6):c.587G>A (p.Gly196Glu)	MYF6 (G196E)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy +1 more	GUncertain significance
Select item 566144	NM_002469.3(MYF6):c.559T>A (p.Trp187Arg)	MYF6 (W187R)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 562194	NM_001005361.3(DNM2):c.197G>A (p.Arg66Gln)	DNM2 (R66Q)	Single nucleotide variant (missense variant)	Fetal akinesia-cerebral and retinal hemorrhage syndrome +2 more	GUncertain significance
Select item 560989	NM_001005361.3(DNM2):c.1090C>T (p.Arg364Cys)	DNM2 (R364C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 539973	NM_002469.3(MYF6):c.369C>T (p.Asn123=)	MYF6	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 533839	NM_001005361.3(DNM2):c.750A>G (p.Ala250=)	DNM2	Single nucleotide variant (synonymous variant)	Autosomal dominant centronuclear myopathy +2 more	GLikely benign
Select item 533838	NM_001005361.3(DNM2):c.1512G>A (p.Thr504=)	DNM2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 472758	NM_002469.3(MYF6):c.575A>C (p.Asp192Ala)	MYF6 (D192A)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy	GUncertain significance
Select item 472757	NM_002469.3(MYF6):c.544A>C (p.Thr182Pro)	MYF6 (T182P)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 472756	NM_002469.3(MYF6):c.46G>A (p.Asp16Asn)	MYF6 (D16N)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy	GUncertain significance
Select item 472755	NM_002469.3(MYF6):c.352C>A (p.Arg118=)	MYF6	Single nucleotide variant (synonymous variant)	Autosomal dominant centronuclear myopathy	GBenign
Select item 472754	NM_002469.3(MYF6):c.347T>C (p.Leu116Pro)	MYF6 (L116P)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy	GLikely benign
Select item 472753	NM_002469.3(MYF6):c.331G>C (p.Glu111Gln)	MYF6 (E111Q)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy	GUncertain significance
Select item 472752	NM_002469.3(MYF6):c.269C>A (p.Ala90Asp)	MYF6 (A90D)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy	GBenign/Likely benign
Select item 472751	NM_002469.3(MYF6):c.184G>A (p.Val62Ile)	MYF6 (V62I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 465285	NM_001005361.3(DNM2):c.2356G>T (p.Gly786Cys)	DNM2 (G786C +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 465283	NM_001005361.3(DNM2):c.1853C>A (p.Ala618Asp)	DNM2 (A618D +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy +1 more	GPathogenic
Select item 449326	NM_001005361.3(DNM2):c.1852G>A (p.Ala618Thr)	DNM2 (A618T +1 more)	Single nucleotide variant (missense variant)	Centronuclear myopathy	GPathogenic FDA Recognized database
Select item 435911	NM_002469.3(MYF6):c.528T>C (p.Gly176=)	MYF6	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 416986	NM_001005361.3(DNM2):c.1377C>T (p.Ile459=)	DNM2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 328014	NM_001005361.3(DNM2):c.*711T>C	DNM2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant centronuclear myopathy +1 more	GUncertain significance
Select item 328013	NM_001005361.3(DNM2):c.*607G>A	DNM2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant centronuclear myopathy +1 more	GBenign
Select item 328012	NM_001005361.3(DNM2):c.*601C>T	DNM2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant centronuclear myopathy +1 more	GBenign
Select item 328011	NM_001005361.3(DNM2):c.*550G>A	DNM2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant centronuclear myopathy +1 more	GUncertain significance

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