ClinVar for MedGen (Select 104495) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 106

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233258	NM_014009.4(FOXP3):c.116_122dup (p.Gly43fs)	FOXP3 (G43fs)	Microsatellite (frameshift variant)	Centronuclear myopathy	GPathogenic
Select item 3233250	NM_001267550.2(TTN):c.30883G>T (p.Glu10295Ter)	TTN (E10295* +2 more)	Single nucleotide variant (nonsense +1 more)	Centronuclear myopathy	GLikely pathogenic
Select item 3233249	NM_001267550.2(TTN):c.107425del (p.Asp35809fs)	TTN, TTN-AS1 (D26744fs +5 more)	Deletion (frameshift variant)	Centronuclear myopathy	GLikely pathogenic
Select item 3233248	NM_001267550.2(TTN):c.1507C>T (p.Gln503Ter)	TTN (Q503*)	Single nucleotide variant (nonsense)	Centronuclear myopathy	GLikely pathogenic
Select item 3233247	NM_016213.5(TRIP4):c.1199del (p.Gln400fs)	TRIP4 (Q170fs +1 more)	Deletion (frameshift variant +1 more)	Centronuclear myopathy	GPathogenic
Select item 3233246	NM_016213.5(TRIP4):c.55_56insCT (p.Gln19fs)	TRIP4 (Q19fs)	Insertion (5 prime UTR variant +2 more)	Centronuclear myopathy	GPathogenic
Select item 3233244	NM_015602.4(TOR1AIP1):c.63dup (p.Arg22fs)	LOC112577517, TOR1AIP1 (R22fs)	Duplication (frameshift variant)	Centronuclear myopathy	GPathogenic
Select item 3233239	NM_000540.3(RYR1):c.13940T>A (p.Leu4647Gln)	RYR1 (L4642Q +1 more)	Single nucleotide variant (missense variant)	Centronuclear myopathy	GLikely pathogenic
Select item 3233238	NM_000540.3(RYR1):c.3263A>G (p.Tyr1088Cys)	RYR1 (Y1088C)	Single nucleotide variant (missense variant)	Centronuclear myopathy	GLikely pathogenic
Select item 3233237	NM_000540.3(RYR1):c.6891+1G>T	RYR1	Single nucleotide variant (splice donor variant)	Centronuclear myopathy	GPathogenic
Select item 3233236	NM_000540.3(RYR1):c.8141_8142del (p.Tyr2714fs)	RYR1 (Y2714fs)	Deletion (frameshift variant)	Centronuclear myopathy	GPathogenic
Select item 3233235	NM_000540.3(RYR1):c.7639GCGCTG[3] (p.Leu2550_Asn2551insAlaLeu)	RYR1	Microsatellite (inframe_insertion)	Centronuclear myopathy	GUncertain significance
Select item 3233234	NM_000540.3(RYR1):c.725G>A (p.Arg242Lys)	RYR1 (R242K)	Single nucleotide variant (missense variant)	Centronuclear myopathy	GLikely pathogenic
Select item 3233233	NM_000540.3(RYR1):c.10882C>G (p.Arg3628Gly)	RYR1 (R3623G +1 more)	Single nucleotide variant (missense variant)	Centronuclear myopathy	GUncertain significance
Select item 3223341	NM_001267550.2(TTN):c.97417del (p.Arg32473fs)	TTN, TTN-AS1 (R23408fs +5 more)	Deletion (non-coding transcript variant +1 more)	Centronuclear myopathy +1 more	GPathogenic/Likely pathogenic
Select item 3011522	NM_000540.3(RYR1):c.2200C>T (p.Gln734Ter)	RYR1 (Q734*)	Single nucleotide variant (nonsense)	Centronuclear myopathy +1 more	GPathogenic/Likely pathogenic
Select item 2627379	NM_000540.3(RYR1):c.[11941C>T;8342_8343del]	RYR1, LOC126862902 (H3976Y +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital multicore myopathy with external ophthalmoplegia	GPathogenic
Select item 2582809	NM_001100.4(ACTA1):c.443G>T (p.Gly148Val)	ACTA1 (G148V)	Single nucleotide variant (missense variant)	Nemaline myopathy +1 more	GLikely pathogenic
Select item 2443904	NM_000069.3(CACNA1S):c.2225C>A (p.Pro742Gln)	CACNA1S	Single nucleotide variant (missense variant)	Centronuclear myopathy	GPathogenic
Select item 2443900	NM_000069.3(CACNA1S):c.1189_1190del (p.Ser397fs)	CACNA1S (S397fs)	Microsatellite (frameshift variant)	Malignant hyperthermia, susceptibility to, 5 +2 more	GPathogenic
Select item 2138289	NM_000540.3(RYR1):c.9611C>T (p.Ala3204Val)	RYR1 (A3204V)	Single nucleotide variant (missense variant)	RYR1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2061561	NM_000069.3(CACNA1S):c.4967del (p.Leu1656fs)	CACNA1S (L1656fs)	Deletion (frameshift variant)	Congenital myopathy 18 +3 more	GPathogenic
Select item 2039302	NM_000540.3(RYR1):c.6797-6_6798del	RYR1	Deletion (splice acceptor variant)	Centronuclear myopathy +2 more	GPathogenic
Select item 1524338	NM_001267550.2(TTN):c.106374G>A (p.Lys35458=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +2 more	GConflicting classifications of pathogenicity
Select item 1522765	NM_001267550.2(TTN):c.21961G>A (p.Glu7321Lys)	TTN (E7321K +2 more)	Single nucleotide variant (missense variant +1 more)	Centronuclear myopathy +2 more	GLikely pathogenic
Select item 1518234	NM_152263.4(TPM3):c.401G>A (p.Arg134Gln)	TPM3 (R134Q +3 more)	Single nucleotide variant (missense variant +1 more)	Centronuclear myopathy +2 more	GConflicting classifications of pathogenicity
Select item 1498610	NM_000540.3(RYR1):c.1576+1G>A	RYR1	Single nucleotide variant (splice donor variant)	Centronuclear myopathy +1 more	GPathogenic/Likely pathogenic
Select item 1329885	NM_000540.3(RYR1):c.5449del (p.Glu1817fs)	RYR1 (E1817fs)	Deletion (frameshift variant)	RYR1-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 1151351	NM_001005361.3(DNM2):c.654C>T (p.Asp218=)	DNM2	Single nucleotide variant (synonymous variant)	Centronuclear myopathy	GBenign FDA Recognized database
Select item 1066833	NM_000540.3(RYR1):c.3223C>T (p.Arg1075Trp)	RYR1 (R1075W)	Single nucleotide variant (missense variant)	Centronuclear myopathy +1 more	GPathogenic/Likely pathogenic
Select item 971564	NM_138638.5(CFL2):c.242G>A (p.Arg81Gln)	CFL2 (R64Q +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 7 +1 more	GConflicting classifications of pathogenicity
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 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 870628	NM_001267550.2(TTN):c.32312-1G>A	TTN	Single nucleotide variant (intron variant +1 more)	Centronuclear myopathy	GPathogenic/Likely pathogenic
Select item 870627	NM_001267550.2(TTN):c.2099_2106dup (p.Ala703delinsLysLeuTer)	TTN	Duplication (nonsense)	Centronuclear myopathy	GPathogenic
Select item 870623	NM_000540.3(RYR1):c.6823G>A (p.Val2275Met)	RYR1 (V2275M)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 870618	NM_000540.3(RYR1):c.2044C>G (p.Arg682Gly)	RYR1 (R682G)	Single nucleotide variant (missense variant)	Centronuclear myopathy	GLikely pathogenic
Select item 801335	NM_001198800.3(ASCC1):c.328C>T (p.Arg110Ter)	ASCC1 (R138* +3 more)	Single nucleotide variant (nonsense +1 more)	Centronuclear myopathy +1 more	GPathogenic
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 694272	NM_000751.3(CHRND):c.880C>T (p.Leu294Phe)	CHRND (L279F +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 692287	NM_000540.3(RYR1):c.8024C>A (p.Thr2675Lys)	RYR1 (T2675K)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +2 more	GLikely pathogenic
Select item 692286	NM_000540.3(RYR1):c.2500_2501dup (p.Pro836fs)	RYR1 (P836fs)	Duplication (frameshift variant)	Fetal akinesia deformation sequence 1 +2 more	GPathogenic/Likely pathogenic
Select item 660051	NM_000540.3(RYR1):c.6891+3G>T	RYR1	Single nucleotide variant (intron variant)	RYR1-related disorder +1 more	GUncertain significance
Select item 642707	NM_000540.3(RYR1):c.8888T>C (p.Leu2963Pro)	RYR1 (L2963P)	Single nucleotide variant (missense variant)	RYR1-related myopathy	GPathogenic FDA Recognized database
Select item 617578	NM_000540.3(RYR1):c.4837C>T (p.Gln1613Ter)	RYR1 (Q1613*)	Single nucleotide variant (nonsense)	RYR1-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 590640	NM_000540.3(RYR1):c.9892G>A (p.Ala3298Thr)	RYR1 (A3298T)	Single nucleotide variant (missense variant)	RYR1-related disorder +7 more	GConflicting classifications of pathogenicity
Select item 590611	NM_000540.3(RYR1):c.8342_8343del (p.Ile2781fs)	LOC126862902, RYR1 (I2781fs)	Deletion (frameshift variant)	Congenital multicore myopathy with external ophthalmoplegia +7 more	GConflicting classifications of pathogenicity
Select item 571022	NM_000540.3(RYR1):c.1342A>T (p.Ile448Phe)	RYR1 (I448F)	Single nucleotide variant (missense variant)	RYR1-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 561101	NM_000540.3(RYR1):c.7093G>A (p.Gly2365Arg)	RYR1 (G2365R)	Single nucleotide variant (missense variant)	Centronuclear myopathy +5 more	GConflicting classifications of pathogenicity
Select item 548989	NM_001267550.2(TTN):c.35828dup (p.Glu11945Argfs)	TTN (E11945fs)	Duplication (frameshift variant +1 more)	Centronuclear myopathy +2 more	GConflicting classifications of pathogenicity
Select item 544453	NM_000540.3(RYR1):c.3523G>A (p.Glu1175Lys)	RYR1 (E1175K)	Single nucleotide variant (missense variant)	RYR1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 544443	NM_000540.3(RYR1):c.7027G>A (p.Gly2343Ser)	RYR1 (G2343S)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 511239	NM_001005361.3(DNM2):c.162-6del	DNM2	Deletion (intron variant)	Centronuclear myopathy	GBenign FDA Recognized database
Select item 492808	NM_000252.3(MTM1):c.1053+5G>A	MTM1	Single nucleotide variant (intron variant)	Centronuclear myopathy	GUncertain significance
Select item 461696	NM_000252.3(MTM1):c.1454C>T (p.Ala485Val)	MTM1 (A485V +1 more)	Single nucleotide variant (missense variant)	Centronuclear myopathy	GBenign FDA Recognized database
Select item 452205	NM_001267550.2(TTN):c.42598_42599insG (p.Met14200fs)	TTN (M11632fs +5 more)	Insertion (frameshift variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 449923	NM_000079.4(CHRNA1):c.1321G>A (p.Gly441Arg)	CHRNA1 (G441R +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome +2 more	GPathogenic/Likely pathogenic
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 446158	NM_016653.3(MAP3K20):c.490_491del (p.Met164fs)	MAP3K20 (M164fs)	Deletion (frameshift variant)	Centronuclear myopathy	GPathogenic
Select item 440962	NM_000540.3(RYR1):c.3877C>A (p.Pro1293Thr)	RYR1 (P1293T)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +2 more	GConflicting classifications of pathogenicity
Select item 433176	NM_000540.3(RYR1):c.3224G>A (p.Arg1075Gln)	RYR1 (R1075Q)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GLikely benign FDA Recognized database
Select item 424833	NM_001267550.2(TTN):c.[106531+2T>A];[107867delT]			Congenital muscular dystrophy	GLikely pathogenic
Select item 424401	NM_001005361.3(DNM2):c.8A>G (p.Asn3Ser)	DNM2, LOC130063529 (N3S)	Single nucleotide variant (missense variant)	Centronuclear myopathy	GBenign FDA Recognized database
Select item 416987	NM_001005361.3(DNM2):c.643G>A (p.Asp215Asn)	DNM2 (D215N)	Single nucleotide variant (missense variant)	Centronuclear myopathy	GBenign FDA Recognized database
Select item 405082	NM_001267550.2(TTN):c.52021C>T (p.Arg17341Ter)	TTN, TTN-AS1 (R17341* +5 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +3 more	GLikely pathogenic
Select item 385140	NM_000252.3(MTM1):c.582C>T (p.Leu194=)	MTM1	Single nucleotide variant (synonymous variant)	Centronuclear myopathy	GBenign FDA Recognized database
Select item 379718	NM_000540.3(RYR1):c.11590+1G>T	RYR1	Single nucleotide variant (splice donor variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 285094	NM_000252.3(MTM1):c.339T>C (p.Cys113=)	MTM1	Single nucleotide variant (synonymous variant +1 more)	Centronuclear myopathy	GBenign FDA Recognized database
Select item 242432	NM_001267550.1(TTN):c.107867del	TTN-AS1, TTN (L27016fs +5 more)	Deletion (frameshift variant)	Centronuclear myopathy	GLikely pathogenic
Select item 211525	NM_000252.3(MTM1):c.1089dup (p.Val364fs)	MTM1 (V327fs +1 more)	Duplication (frameshift variant)	Severe X-linked myotubular myopathy	GPathogenic
Select item 202465	NM_001267550.2(TTN):c.71980_71986delinsTA (p.Ala23994_Glu23996delinsTer)	TTN, TTN-AS1	Indel (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 180573	NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter)	LOC126806423, TTN +1 more (R22499* +5 more)	Single nucleotide variant (nonsense)	Centronuclear myopathy +9 more	GPathogenic/Likely pathogenic
Select item 167307	NC_000023.11:g.150657936T>A	MTM1	Single nucleotide variant	Centronuclear myopathy	GUncertain significance FDA Recognized database
Select item 158987	NM_000252.3(MTM1):c.614C>T (p.Pro205Leu)	MTM1 (P205L +1 more)	Single nucleotide variant (missense variant)	Centronuclear myopathy	GPathogenic FDA Recognized database
Select item 158984	NM_000252.3(MTM1):c.575A>G (p.Tyr192Cys)	MTM1 (Y192C +1 more)	Single nucleotide variant (missense variant)	Centronuclear myopathy	GLikely pathogenic FDA Recognized database
Select item 158978	NM_000252.3(MTM1):c.535C>T (p.Pro179Ser)	MTM1 (P179S +1 more)	Single nucleotide variant (missense variant)	Severe X-linked myotubular myopathy +1 more	GPathogenic
Select item 158952	NM_000252.3(MTM1):c.1702A>G (p.Ile568Val)	MTM1 (I568V +2 more)	Single nucleotide variant (missense variant)	Centronuclear myopathy	GBenign FDA Recognized database
Select item 158926	NM_000252.3(MTM1):c.137-7T>G	MTM1	Single nucleotide variant (intron variant)	Centronuclear myopathy	GUncertain significance FDA Recognized database
Select item 158914	NM_000252.3(MTM1):c.1262G>A (p.Arg421Gln)	MTM1 (R421Q +1 more)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion +3 more	GPathogenic
Select item 158913	NM_000252.3(MTM1):c.1261C>T (p.Arg421Ter)	MTM1 (R421* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder +3 more	GPathogenic
Select item 158528	NM_001005361.3(DNM2):c.822G>A (p.Thr274=)	DNM2	Single nucleotide variant (synonymous variant)	Centronuclear myopathy +4 more	GConflicting classifications of pathogenicity
Select item 158526	NM_001005361.3(DNM2):c.2484G>A (p.Pro828=)	DNM2	Single nucleotide variant (synonymous variant)	Centronuclear myopathy	GBenign FDA Recognized database
Select item 158524	NM_001005361.3(DNM2):c.235+12C>A	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B +4 more	GConflicting classifications of pathogenicity
Select item 158522	NM_001005361.3(DNM2):c.2106G>C (p.Ser702=)	DNM2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 158520	NM_001005361.3(DNM2):c.1880C>G (p.Pro627Arg)	DNM2 (P627R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 158519	NM_001005361.3(DNM2):c.1862T>C (p.Leu621Pro)	DNM2 (L621P +1 more)	Single nucleotide variant (missense variant)	Centronuclear myopathy +1 more	GPathogenic
Select item 158518	NM_001005361.3(DNM2):c.1827C>T (p.Ser609=)	DNM2	Single nucleotide variant (synonymous variant)	Centronuclear myopathy +3 more	GConflicting classifications of pathogenicity
Select item 158514	NM_001005361.3(DNM2):c.1565G>A (p.Arg522His)	DNM2 (R522H +1 more)	Single nucleotide variant (missense variant)	See cases +4 more	GPathogenic/Likely pathogenic
Select item 158513	NM_001005361.3(DNM2):c.1124T>A (p.Val375Glu)	DNM2 (V375E)	Single nucleotide variant (missense variant)	Centronuclear myopathy	GLikely pathogenic
Select item 133175	NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser)	RYR1 (N2342S)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign FDA Recognized database
Select item 132994	NM_000540.3(RYR1):c.10348-6C>G	RYR1	Single nucleotide variant (intron variant)	Centronuclear myopathy +9 more	GConflicting classifications of pathogenicity
Select item 65984	NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln)	RYR1 (R4558Q +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 65396	NM_000540.2(RYR1):c.[10348-6C>G;14524G>A]	RYR1 (V4842M +1 more)	Single nucleotide variant (intron variant +1 more)	Congenital multicore myopathy with external ophthalmoplegia	GPathogenic
Select item 12988	NM_000540.3(RYR1):c.325C>T (p.Arg109Trp)	RYR1 (R109W)	Single nucleotide variant (missense variant)	RYR1-related disorder +7 more	GConflicting classifications of pathogenicity
Select item 12984	NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile)	RYR1 (V4849I +1 more)	Single nucleotide variant (missense variant)	succinylcholine response - Toxicity +6 more	Gdrug response
Select item 11551	NM_001159699.2(FHL1):c.443G>T (p.Cys148Phe)	FHL1 (C132F +2 more)	Single nucleotide variant (missense variant +1 more)	Centronuclear myopathy	GPathogenic
Select item 11060	NM_000252.3(MTM1):c.670C>T (p.Arg224Ter)	MTM1 (R224* +1 more)	Single nucleotide variant (nonsense)	Centronuclear myopathy	GPathogenic FDA Recognized database
Select item 11058	NM_000252.3(MTM1):c.1261-10A>G	MTM1	Single nucleotide variant (intron variant)	Centronuclear myopathy +2 more	GPathogenic/Likely pathogenic
Select item 11057	NM_000252.3(MTM1):c.141_144del	MTM1	Deletion	Centronuclear myopathy	GPathogenic FDA Recognized database
Select item 11055	NM_000252.3(MTM1):c.205C>T (p.Arg69Cys)	MTM1 (R69C)	Single nucleotide variant (missense variant)	Centronuclear myopathy	GPathogenic FDA Recognized database

<< First< Prev

Page of 2