C0546264[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 931230	NM_152263.4(TPM3):c.59T>C (p.Leu20Pro)	TPM3 (L20P)	Single nucleotide variant (missense variant +1 more)	Congenital myopathy with fiber type disproportion	GUncertain significance
Select item 42107	NM_001100.4(ACTA1):c.16G>A (p.Glu6Lys)	ACTA1 (E6K)	Single nucleotide variant (missense variant)	Progressive scapulohumeroperoneal distal myopathy +1 more	GPathogenic/Likely pathogenic
Select item 930422	NM_213674.1(TPM2):c.776C>G (p.Thr259Ser)	TPM2 (T259S)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion	GUncertain significance
Select item 931452	NM_003289.4(TPM2):c.28A>T (p.Met10Leu)	TPM2 (M10L)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion	GUncertain significance
Select item 562179	NM_000257.4(MYH7):c.5560-2A>C	MYH7	Single nucleotide variant (splice acceptor variant)	Congenital myopathy with fiber type disproportion +1 more	GLikely pathogenic
Select item 43064	NM_000257.4(MYH7):c.5342G>A (p.Arg1781His)	MYH7 (R1781H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database
Select item 931946	NM_000257.4(MYH7):c.5333A>C (p.His1778Pro)	MYH7 (H1778P)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion	GUncertain significance
Select item 36642	NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln)	LOC126861897, MHRT +1 more (R1712Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 930791	NM_000257.4(MYH7):c.4729G>A (p.Ala1577Thr)	MHRT, LOC126861897 +1 more (A1577T)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital myopathy with fiber type disproportion	GUncertain significance
Select item 931118	NM_000257.4(MYH7):c.4631T>C (p.Leu1544Pro)	MHRT, MYH7 (L1544P)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion +1 more	GUncertain significance
Select item 43012	NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn)	MHRT, MYH7 (K1459N)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GLikely benign FDA Recognized database
Select item 42978	NM_000257.4(MYH7):c.3856G>A (p.Glu1286Lys)	MYH7 (E1286K)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 177826	NM_000257.4(MYH7):c.3236G>A (p.Arg1079Gln)	MYH7 (R1079Q)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 931114	NM_000257.4(MYH7):c.2923G>A (p.Val975Met)	MYH7 (V975M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 417718	NM_000257.4(MYH7):c.2631G>T (p.Met877Ile)	LOC126861898, MYH7 (M877I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +3 more	GConflicting classifications of pathogenicity
Select item 164324	NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys)	LOC126861898, MYH7 (R858C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +10 more	GPathogenic/Likely pathogenic
Select item 931512	NM_000257.4(MYH7):c.2192C>G (p.Pro731Arg)	MYH7 (P731R)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion	GLikely pathogenic
Select item 164350	NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys)	MYH7 (R671C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 930519	NM_000257.4(MYH7):c.1987C>A (p.Arg663Ser)	MYH7 (R663S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GLikely pathogenic
Select item 181402	NM_000257.4(MYH7):c.925G>A (p.Asp309Asn)	MYH7 (D309N)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 12988	NM_000540.3(RYR1):c.325C>T (p.Arg109Trp)	RYR1 (R109W)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +6 more	GConflicting classifications of pathogenicity
Select item 523377	NM_000540.3(RYR1):c.1264G>A (p.Gly422Arg)	RYR1 (G422R)	Single nucleotide variant (missense variant)	RYR1-related disorder +7 more	GConflicting classifications of pathogenicity
Select item 133076	NM_000540.3(RYR1):c.1453A>G (p.Met485Val)	LOC129391106, RYR1 (M485V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 931453	NM_000540.3(RYR1):c.2338dup (p.Val780fs)	RYR1 (V780fs)	Duplication (frameshift variant)	Congenital myopathy with fiber type disproportion	GLikely pathogenic
Select item 374135	NM_000540.3(RYR1):c.4115C>T (p.Ala1372Val)	RYR1 (A1372V)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 374136	NM_000540.3(RYR1):c.4236C>G (p.His1412Gln)	RYR1 (H1412Q)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 161372	NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp)	RYR1 (R1469W)	Single nucleotide variant (missense variant)	RYR1-related disorder +7 more	GConflicting classifications of pathogenicity
Select item 930890	NM_000540.3(RYR1):c.4816C>T (p.Arg1606Cys)	RYR1 (R1606C)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 373680	NM_000540.3(RYR1):c.5000G>A (p.Arg1667His)	RYR1 (R1667H)	Single nucleotide variant (missense variant)	not provided +10 more	GUncertain significance
Select item 931243	NM_000540.3(RYR1):c.5999C>T (p.Ser2000Phe)	RYR1 (S2000F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 931597	NM_000540.3(RYR1):c.6805G>C (p.Gly2269Arg)	RYR1 (G2269R)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion	GUncertain significance
Select item 374164	NM_000540.3(RYR1):c.7111G>A (p.Glu2371Lys)	RYR1 (E2371K)	Single nucleotide variant (missense variant)	Proximal amyotrophy +6 more	GConflicting classifications of pathogenicity
Select item 12989	NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys)	RYR1 (M2423K)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 133195	NM_000540.3(RYR1):c.7291G>T (p.Asp2431Tyr)	RYR1 (D2431Y)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely pathogenic FDA Recognized database
Select item 65981	NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys)	RYR1 (R2508C)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely pathogenic FDA Recognized database
Select item 931921	NM_000540.3(RYR1):c.7854G>A (p.Met2618Ile)	RYR1 (M2618I)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion +6 more	GUncertain significance
Select item 931336	NM_000540.3(RYR1):c.8519G>A (p.Arg2840Gln)	LOC126862902, RYR1 (R2840Q)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion +1 more	GUncertain significance
Select item 329090	NM_000540.3(RYR1):c.9635A>G (p.Glu3212Gly)	RYR1 (E3212G)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GUncertain significance FDA Recognized database
Select item 651289	NM_000540.3(RYR1):c.9874C>T (p.Pro3292Ser)	RYR1 (P3292S)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +2 more	GUncertain significance
Select item 329095	NM_000540.3(RYR1):c.10042C>T (p.Arg3348Cys)	RYR1 (R3348C)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 931477	NM_000540.3(RYR1):c.11023G>C (p.Asp3675His)	RYR1 (D3670H +1 more)	Single nucleotide variant (missense variant)	King Denborough syndrome +6 more	GUncertain significance
Select item 224400	NM_000540.3(RYR1):c.11599C>T (p.Arg3867Cys)	RYR1 (R3867C +1 more)	Single nucleotide variant (missense variant)	Myalgia +8 more	GConflicting classifications of pathogenicity
Select item 930322	NM_000540.3(RYR1):c.12047T>C (p.Leu4016Pro)	RYR1 (L4011P +1 more)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion	GUncertain significance
Select item 647285	NM_000540.3(RYR1):c.12544_12570del (p.Ile4182_Glu4190del)	RYR1	Deletion (inframe_deletion)	Malignant hyperthermia, susceptibility to, 1 +3 more	GConflicting classifications of pathogenicity
Select item 931228	NM_000540.3(RYR1):c.12955C>T (p.Arg4319Trp)	RYR1 (R4314W +1 more)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion	GUncertain significance
Select item 931314	NM_000540.3(RYR1):c.13145G>A (p.Gly4382Asp)	RYR1 (G4377D +1 more)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion	GUncertain significance
Select item 930581	NM_000540.3(RYR1):c.13281C>G (p.His4427Gln)	LOC130064357, RYR1 (H4427Q +1 more)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion	GUncertain significance
Select item 93252	NM_000540.3(RYR1):c.13513G>C (p.Asp4505His)	RYR1 (D4505H +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GBenign FDA Recognized database
Select item 931922	NM_000540.3(RYR1):c.13746+4C>G	RYR1	Single nucleotide variant (intron variant)	RYR1-related disorder +1 more	GUncertain significance
Select item 65941	NM_000540.3(RYR1):c.13913G>A (p.Gly4638Asp)	RYR1 (G4638D +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GUncertain significance FDA Recognized database
Select item 931756	NM_000540.3(RYR1):c.14291G>A (p.Gly4764Glu)	RYR1 (G4764E +1 more)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion +1 more	GUncertain significance

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Items: 51