ClinVar for MedGen (Select 443948) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 4034

<< First< Prev

Page of 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3774532	NM_000540.3(RYR1):c.4490G>A (p.Gly1497Glu)	RYR1 (G1497E)	Single nucleotide variant (missense variant)	Central core myopathy +1 more	GUncertain significance
Select item 3629468	NM_000540.3(RYR1):c.99G>C (p.Lys33Asn)	RYR1 (K33N)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely pathogenic
Select item 3601997	NM_000540.3(RYR1):c.14920C>T (p.His4974Tyr)	RYR1 (H4969Y +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3583774	NM_000540.3(RYR1):c.13471C>G (p.Pro4491Ala)	RYR1 (P4491A +1 more)	Single nucleotide variant (missense variant)	RYR1-related disorder +4 more	GUncertain significance
Select item 3583773	NM_000540.3(RYR1):c.10828G>T (p.Glu3610Ter)	RYR1 (E3605* +1 more)	Single nucleotide variant (nonsense)	King Denborough syndrome +3 more	GLikely pathogenic
Select item 3583772	NM_000540.3(RYR1):c.9886del (p.Leu3296fs)	RYR1 (L3296fs)	Deletion (frameshift variant)	King Denborough syndrome +3 more	GLikely pathogenic
Select item 3583771	NM_000540.3(RYR1):c.9625C>T (p.Gln3209Ter)	RYR1 (Q3209*)	Single nucleotide variant (nonsense)	King Denborough syndrome +3 more	GLikely pathogenic
Select item 3583769	NM_000540.3(RYR1):c.3382-1G>A	RYR1	Single nucleotide variant (splice acceptor variant)	King Denborough syndrome +3 more	GLikely pathogenic
Select item 3583768	NM_000540.3(RYR1):c.1297A>G (p.Thr433Ala)	RYR1 (T433A)	Single nucleotide variant (missense variant)	King Denborough syndrome +3 more	GUncertain significance
Select item 3583767	NM_000540.3(RYR1):c.718C>T (p.Gln240Ter)	RYR1 (Q240*)	Single nucleotide variant (nonsense)	King Denborough syndrome +3 more	GPathogenic
Select item 3387753	NM_000540.3(RYR1):c.5713G>T (p.Asp1905Tyr)	RYR1 (D1905Y)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387752	NM_000540.3(RYR1):c.5676GGA[2] (p.Glu1894del)	RYR1 (E1894del)	Microsatellite	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387751	NM_000540.3(RYR1):c.5661_5669del (p.Asp1888_Glu1890del)	RYR1	Deletion	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387749	NM_000540.3(RYR1):c.5632G>A (p.Glu1878Lys)	RYR1 (E1878K)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387748	NM_000540.3(RYR1):c.5584A>T (p.Ile1862Phe)	RYR1 (I1862F)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387747	NM_000540.3(RYR1):c.5573A>T (p.Asp1858Val)	RYR1 (D1858V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387746	NM_000540.3(RYR1):c.5537C>T (p.Ser1846Phe)	RYR1 (S1846F)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387744	NM_000540.3(RYR1):c.5513T>C (p.Phe1838Ser)	RYR1 (F1838S)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387743	NM_000540.3(RYR1):c.5498C>T (p.Ser1833Phe)	RYR1 (S1833F)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387742	NM_000540.3(RYR1):c.5491G>A (p.Gly1831Arg)	RYR1 (G1831R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387741	NM_000540.3(RYR1):c.5482G>A (p.Asp1828Asn)	RYR1 (D1828N)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387739	NM_000540.3(RYR1):c.5444T>C (p.Leu1815Pro)	RYR1 (L1815P)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387738	NM_000540.3(RYR1):c.5416G>A (p.Ala1806Thr)	RYR1 (A1806T)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387737	NM_000540.3(RYR1):c.5413G>A (p.Glu1805Lys)	RYR1 (E1805K)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387736	NM_000540.3(RYR1):c.5410C>T (p.Leu1804=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign
Select item 3387735	NM_000540.3(RYR1):c.5315G>A (p.Arg1772Lys)	RYR1 (R1772K)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387734	NM_000540.3(RYR1):c.5311C>G (p.Leu1771Val)	RYR1 (L1771V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387733	NM_000540.3(RYR1):c.5228C>A (p.Ala1743Asp)	RYR1 (A1743D)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387732	NM_000540.3(RYR1):c.5205G>A (p.Val1735=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign
Select item 3387731	NM_000540.3(RYR1):c.5191T>C (p.Ser1731Pro)	RYR1 (S1731P)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387729	NM_000540.3(RYR1):c.5065G>C (p.Asp1689His)	RYR1 (D1689H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387728	NM_000540.3(RYR1):c.5048C>T (p.Ala1683Val)	RYR1 (A1683V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387727	NM_000540.3(RYR1):c.4999C>A (p.Arg1667Ser)	RYR1 (R1667S)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387726	NM_000540.3(RYR1):c.4958C>G (p.Ser1653Trp)	RYR1 (S1653W)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387725	NM_000540.3(RYR1):c.4945A>G (p.Ile1649Val)	RYR1 (I1649V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387724	NM_000540.3(RYR1):c.4875G>C (p.Trp1625Cys)	RYR1 (W1625C)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387723	NM_000540.3(RYR1):c.4808C>T (p.Ser1603Phe)	RYR1 (S1603F)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387722	NM_000540.3(RYR1):c.4707+4C>G	RYR1	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387721	NM_000540.3(RYR1):c.4683C>T (p.Ile1561=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign
Select item 3387720	NM_000540.3(RYR1):c.4667C>T (p.Thr1556Ile)	RYR1 (T1556I)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387719	NM_000540.3(RYR1):c.4633_4634del (p.Asn1544_Thr1545insTer)	RYR1	Microsatellite (nonsense)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387718	NM_000540.3(RYR1):c.4617C>T (p.Phe1539=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign
Select item 3387717	NM_000540.3(RYR1):c.4591A>G (p.Asn1531Asp)	RYR1 (N1531D)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387716	NM_000540.3(RYR1):c.4572C>T (p.Gly1524=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign
Select item 3387715	NM_000540.3(RYR1):c.4555G>A (p.Val1519Met)	RYR1 (V1519M)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387714	NM_000540.3(RYR1):c.4537_4540dup (p.Val1514fs)	RYR1 (V1514fs)	Duplication (frameshift variant)	RYR1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3387713	NM_000540.3(RYR1):c.4514A>G (p.Gln1505Arg)	RYR1 (Q1505R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387712	NM_000540.3(RYR1):c.4455-12T>G	RYR1	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign
Select item 3387711	NM_000540.3(RYR1):c.4425G>A (p.Met1475Ile)	RYR1 (M1475I)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387710	NM_000540.3(RYR1):c.4394T>G (p.Leu1465Arg)	RYR1 (L1465R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387709	NM_000540.3(RYR1):c.4363G>A (p.Asp1455Asn)	RYR1 (D1455N)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387708	NM_000540.3(RYR1):c.4352G>A (p.Trp1451Ter)	RYR1 (W1451*)	Single nucleotide variant (nonsense)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387707	NM_000540.3(RYR1):c.4339G>T (p.Val1447Leu)	RYR1 (V1447L)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387706	NM_000540.3(RYR1):c.4205C>G (p.Pro1402Arg)	RYR1 (P1402R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387705	NM_000540.3(RYR1):c.4199A>G (p.Gln1400Arg)	RYR1 (Q1400R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387704	NM_000540.3(RYR1):c.4139C>T (p.Thr1380Ile)	RYR1 (T1380I)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387703	NM_000540.3(RYR1):c.4137C>A (p.Thr1379=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign
Select item 3387702	NM_000540.3(RYR1):c.4128G>C (p.Lys1376Asn)	RYR1 (K1376N)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387701	NM_000540.3(RYR1):c.4094G>C (p.Gly1365Ala)	RYR1 (G1365A)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387700	NM_000540.3(RYR1):c.4091G>C (p.Gly1364Ala)	RYR1 (G1364A)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387699	NM_000540.3(RYR1):c.4090G>A (p.Gly1364Arg)	RYR1 (G1364R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387698	NM_000540.3(RYR1):c.4019G>T (p.Gly1340Val)	RYR1 (G1340V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387697	NM_000540.3(RYR1):c.4013C>T (p.Ala1338Val)	RYR1 (A1338V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387696	NM_000540.3(RYR1):c.3968G>A (p.Arg1323Gln)	RYR1 (R1323Q)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387695	NM_000540.3(RYR1):c.3802T>C (p.Cys1268Arg)	RYR1 (C1268R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387694	NM_000540.3(RYR1):c.3784A>G (p.Thr1262Ala)	RYR1 (T1262A)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387693	NM_000540.3(RYR1):c.3775G>T (p.Val1259Leu)	RYR1 (V1259L)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387692	NM_000540.3(RYR1):c.3774A>T (p.Arg1258=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign
Select item 3387691	NM_000540.3(RYR1):c.3765+3A>G	RYR1	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387690	NM_000540.3(RYR1):c.3728A>G (p.Gln1243Arg)	RYR1 (Q1243R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387689	NM_000540.3(RYR1):c.3683A>T (p.Asn1228Ile)	RYR1 (N1228I)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387688	NM_000540.3(RYR1):c.3618C>A (p.Asp1206Glu)	RYR1 (D1206E)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387687	NM_000540.3(RYR1):c.3539A>G (p.Glu1180Gly)	RYR1 (E1180G)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387686	NM_000540.3(RYR1):c.3534C>G (p.Phe1178Leu)	RYR1 (F1178L)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387685	NM_000540.3(RYR1):c.3484A>G (p.Thr1162Ala)	RYR1 (T1162A)	Single nucleotide variant (missense variant)	RYR1-related disorder +1 more	GUncertain significance
Select item 3387684	NM_000540.3(RYR1):c.3470A>C (p.Asn1157Thr)	RYR1 (N1157T)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387683	NM_000540.3(RYR1):c.3422C>A (p.Pro1141His)	RYR1 (P1141H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387682	NM_000540.3(RYR1):c.3388C>G (p.Arg1130Gly)	RYR1 (R1130G)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387681	NM_000540.3(RYR1):c.3381+5G>T	RYR1	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387680	NM_000540.3(RYR1):c.3381+4G>C	RYR1	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387679	NM_000540.3(RYR1):c.3178+5G>A	RYR1	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387678	NM_000540.3(RYR1):c.3029A>G (p.Gln1010Arg)	RYR1 (Q1010R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387677	NM_000540.3(RYR1):c.2953G>A (p.Asp985Asn)	RYR1 (D985N)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387676	NM_000540.3(RYR1):c.2896C>G (p.Pro966Ala)	RYR1 (P966A)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387674	NM_000540.3(RYR1):c.2880G>A (p.Met960Ile)	RYR1 (M960I)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387673	NM_000540.3(RYR1):c.2739A>G (p.Pro913=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign
Select item 3387672	NM_000540.3(RYR1):c.2690A>G (p.Asp897Gly)	RYR1 (D897G)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387671	NM_000540.3(RYR1):c.2662C>G (p.Gln888Glu)	RYR1 (Q888E)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387670	NM_000540.3(RYR1):c.2657T>C (p.Ile886Thr)	RYR1 (I886T)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387669	NM_000540.3(RYR1):c.2616G>A (p.Lys872=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign
Select item 3387668	NM_000540.3(RYR1):c.2610G>A (p.Arg870=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign
Select item 3387667	NM_000540.3(RYR1):c.2475C>G (p.Ile825Met)	RYR1 (I825M)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387665	NM_000540.3(RYR1):c.2272A>G (p.Ile758Val)	RYR1 (I758V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387664	NM_000540.3(RYR1):c.2089G>A (p.Ala697Thr)	RYR1 (A697T)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387663	NM_000540.3(RYR1):c.1995G>T (p.Val665=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign
Select item 3387662	NM_000540.3(RYR1):c.1993G>A (p.Val665Met)	RYR1 (V665M)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387661	NM_000540.3(RYR1):c.1895T>C (p.Leu632Pro)	RYR1 (L632P)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387659	NM_000540.3(RYR1):c.1837G>A (p.Val613Ile)	RYR1 (V613I)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387658	NM_000540.3(RYR1):c.1811C>T (p.Ser604Phe)	RYR1 (S604F)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3387657	NM_000540.3(RYR1):c.1807T>C (p.Cys603Arg)	RYR1 (C603R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance

<< First< Prev

Page of 41