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 3406

<< First< Prev

Page of 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3075499	NM_000540.3(RYR1):c.6078G>T (p.Glu2026Asp)	RYR1 (E2026D)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075491	NM_000540.3(RYR1):c.5529G>C (p.Lys1843Asn)	RYR1 (K1843N)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075489	NM_000540.3(RYR1):c.3751C>G (p.His1251Asp)	RYR1 (H1251D)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075485	NM_000540.3(RYR1):c.2818A>G (p.Met940Val)	RYR1 (M940V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075476	NM_000540.3(RYR1):c.2061C>T (p.Leu687=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign
Select item 3075474	NM_000540.3(RYR1):c.7234G>A (p.Glu2412Lys)	RYR1 (E2412K)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075472	NM_000540.3(RYR1):c.2214C>T (p.Ala738=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign
Select item 3075468	NM_000540.3(RYR1):c.11488A>G (p.Ser3830Gly)	RYR1 (S3825G +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075455	NM_000540.3(RYR1):c.10659G>C (p.Leu3553=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign
Select item 3075454	NM_000540.3(RYR1):c.11295G>C (p.Gln3765His)	RYR1 (Q3760H +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075445	NM_000540.3(RYR1):c.8132C>T (p.Pro2711Leu)	RYR1 (P2711L)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075418	NM_000540.3(RYR1):c.6987G>A (p.Glu2329=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign
Select item 3075414	NM_000540.3(RYR1):c.12036G>T (p.Leu4012=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign
Select item 3075411	NM_000540.3(RYR1):c.4974G>C (p.Leu1658=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign
Select item 3075403	NM_000540.3(RYR1):c.2647C>A (p.Leu883Ile)	RYR1 (L883I)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075395	NM_000540.3(RYR1):c.1099C>A (p.Arg367=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign
Select item 3075389	NM_000540.3(RYR1):c.15022-5C>T	RYR1	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign
Select item 3075385	NM_000540.3(RYR1):c.14420A>G (p.Asn4807Ser)	RYR1 (N4802S +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075375	NM_000540.3(RYR1):c.12184G>A (p.Asp4062Asn)	RYR1 (D4057N +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075374	NM_000540.3(RYR1):c.7804G>A (p.Val2602Ile)	RYR1 (V2602I)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075362	NM_000540.3(RYR1):c.4976A>G (p.Gln1659Arg)	RYR1 (Q1659R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075361	NM_000540.3(RYR1):c.8522A>C (p.Lys2841Thr)	LOC126862902, RYR1 (K2841T)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075352	NM_000540.3(RYR1):c.706G>A (p.Asp236Asn)	RYR1 (D236N)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075347	NM_000540.3(RYR1):c.10194C>A (p.Phe3398Leu)	RYR1 (F3398L)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075346	NM_000540.3(RYR1):c.7807A>T (p.Ile2603Phe)	RYR1 (I2603F)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075343	NM_000540.3(RYR1):c.14168G>T (p.Arg4723Leu)	RYR1 (R4718L +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075337	NM_000540.3(RYR1):c.6518A>G (p.Gln2173Arg)	RYR1 (Q2173R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075335	NM_000540.3(RYR1):c.7730T>C (p.Ile2577Thr)	RYR1 (I2577T)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075319	NM_000540.3(RYR1):c.14452G>A (p.Ala4818Thr)	RYR1 (A4813T +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075293	NM_000540.3(RYR1):c.6622A>G (p.Met2208Val)	RYR1 (M2208V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075281	NM_000540.3(RYR1):c.8016G>C (p.Leu2672=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign
Select item 3075280	NM_000540.3(RYR1):c.13864G>A (p.Gly4622Ser)	RYR1 (G4617S +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075272	NM_000540.3(RYR1):c.637G>C (p.Val213Leu)	RYR1 (V213L)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075271	NM_000540.3(RYR1):c.9418C>G (p.Leu3140Val)	RYR1 (L3140V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075268	NM_000540.3(RYR1):c.1600A>G (p.Ser534Gly)	RYR1 (S534G)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075266	NM_000540.3(RYR1):c.9977A>G (p.Asn3326Ser)	RYR1 (N3326S)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075261	NM_000540.3(RYR1):c.885C>A (p.Asp295Glu)	RYR1 (D295E)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075256	NM_000540.3(RYR1):c.2212G>A (p.Ala738Thr)	RYR1 (A738T)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075252	NM_000540.3(RYR1):c.10444G>C (p.Gly3482Arg)	RYR1 (G3482R)	Single nucleotide variant (missense variant +1 more)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075251	NM_000540.3(RYR1):c.10445G>T (p.Gly3482Val)	RYR1 (G3482V)	Single nucleotide variant (missense variant +1 more)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075237	NM_000540.3(RYR1):c.11549A>G (p.Asn3850Ser)	RYR1 (N3845S +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075235	NM_000540.3(RYR1):c.9763G>T (p.Gly3255Trp)	RYR1 (G3255W)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075225	NM_000540.3(RYR1):c.11152G>A (p.Glu3718Lys)	RYR1 (E3713K +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075223	NM_000540.3(RYR1):c.6121C>T (p.His2041Tyr)	RYR1 (H2041Y)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075206	NM_000540.3(RYR1):c.8692+1del	RYR1	Deletion (splice donor variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075203	NM_000540.3(RYR1):c.4604G>A (p.Ser1535Asn)	RYR1 (S1535N)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075197	NM_000540.3(RYR1):c.6944C>T (p.Ala2315Val)	RYR1 (A2315V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075185	NM_000540.3(RYR1):c.859G>C (p.Gly287Arg)	RYR1 (G287R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075150	NM_000540.3(RYR1):c.1853A>G (p.Asp618Gly)	RYR1 (D618G)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075146	NM_000540.3(RYR1):c.3214C>T (p.Arg1072Cys)	RYR1 (R1072C)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075145	NM_000540.3(RYR1):c.14173-9C>G	RYR1	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075143	NM_000540.3(RYR1):c.12718A>G (p.Thr4240Ala)	RYR1 (T4235A +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075138	NM_000540.3(RYR1):c.3901C>G (p.Arg1301Gly)	RYR1 (R1301G)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075128	NM_000540.3(RYR1):c.4634C>G (p.Thr1545Ser)	RYR1 (T1545S)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075127	NM_000540.3(RYR1):c.1473C>A (p.Asp491Glu)	LOC129391106, RYR1 (D491E)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075122	NM_000540.3(RYR1):c.6236A>G (p.Lys2079Arg)	RYR1 (K2079R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075121	NM_000540.3(RYR1):c.4222C>T (p.Pro1408Ser)	RYR1 (P1408S)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075119	NM_000540.3(RYR1):c.9088C>T (p.His3030Tyr)	RYR1 (H3030Y)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075118	NM_000540.3(RYR1):c.1667C>T (p.Ser556Leu)	RYR1 (S556L)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075116	NM_000540.3(RYR1):c.9372C>T (p.Gly3124=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign
Select item 3075114	NM_000540.3(RYR1):c.10700C>G (p.Pro3567Arg)	RYR1 (P3562R +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075110	NM_000540.3(RYR1):c.10709G>A (p.Arg3570His)	RYR1 (R3565H +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075095	NM_000540.3(RYR1):c.9020A>G (p.Asn3007Ser)	RYR1 (N3007S)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075094	NM_000540.3(RYR1):c.14345G>A (p.Gly4782Glu)	RYR1 (G4777E +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075088	NM_000540.3(RYR1):c.13375G>A (p.Asp4459Asn)	RYR1 (D4454N +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075075	NM_000540.3(RYR1):c.10837T>A (p.Tyr3613Asn)	RYR1 (Y3608N +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075072	NM_000540.3(RYR1):c.12427G>A (p.Ala4143Thr)	RYR1 (A4138T +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075069	NM_000540.3(RYR1):c.3466G>T (p.Glu1156Ter)	RYR1 (E1156*)	Single nucleotide variant (nonsense)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075060	NM_000540.3(RYR1):c.2786+1G>A	RYR1	Single nucleotide variant (splice donor variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075056	NM_000540.3(RYR1):c.8225C>T (p.Thr2742Ile)	RYR1 (T2742I)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075054	NM_000540.3(RYR1):c.8830A>G (p.Met2944Val)	RYR1 (M2944V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075048	NM_000540.3(RYR1):c.10992T>G (p.Thr3664=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign
Select item 3075043	NM_000540.3(RYR1):c.9283TTC[1] (p.Phe3096del)	RYR1 (F3096del)	Microsatellite (inframe_deletion)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075030	NM_000540.3(RYR1):c.10998C>T (p.Asp3666=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign
Select item 3075029	NM_000540.3(RYR1):c.2585T>G (p.Leu862Arg)	RYR1 (L862R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075014	NM_000540.3(RYR1):c.9931C>T (p.His3311Tyr)	RYR1 (H3311Y)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075007	NM_000540.3(RYR1):c.8221G>A (p.Glu2741Lys)	RYR1 (E2741K)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075004	NM_000540.3(RYR1):c.10686+5G>A	RYR1	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075003	NM_000540.3(RYR1):c.5189T>C (p.Leu1730Pro)	RYR1 (L1730P)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075002	NM_000540.3(RYR1):c.1717G>A (p.Val573Ile)	RYR1 (V573I)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3074999	NM_000540.3(RYR1):c.5246C>T (p.Pro1749Leu)	RYR1 (P1749L)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3074974	NM_000540.3(RYR1):c.13660-13T>C	RYR1	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign
Select item 3074971	NM_000540.3(RYR1):c.7117G>A (p.Gly2373Ser)	RYR1 (G2373S)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3074969	NM_000540.3(RYR1):c.2522C>G (p.Pro841Arg)	RYR1 (P841R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3074957	NM_000540.3(RYR1):c.4399A>C (p.Lys1467Gln)	RYR1 (K1467Q)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3074955	NM_000540.3(RYR1):c.10669C>T (p.Leu3557Phe)	RYR1 (L3552F +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3074946	NM_000540.3(RYR1):c.3970G>A (p.Ala1324Thr)	RYR1 (A1324T)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3074930	NM_000540.3(RYR1):c.5087C>G (p.Ala1696Gly)	RYR1 (A1696G)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3074924	NM_000540.3(RYR1):c.1720C>T (p.Leu574=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign
Select item 3074918	NM_000540.3(RYR1):c.4665C>T (p.Pro1555=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign
Select item 3074903	NM_000540.3(RYR1):c.2733C>G (p.Ser911Arg)	RYR1 (S911R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3074900	NM_000540.3(RYR1):c.5656G>A (p.Glu1886Lys)	RYR1 (E1886K)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3074897	NM_000540.3(RYR1):c.6947A>G (p.Lys2316Arg)	RYR1 (K2316R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3074891	NM_000540.3(RYR1):c.4756C>T (p.Pro1586Ser)	RYR1 (P1586S)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3074886	NM_000540.3(RYR1):c.4634C>T (p.Thr1545Ile)	RYR1 (T1545I)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3074884	NM_000540.3(RYR1):c.13876G>A (p.Glu4626Lys)	RYR1 (E4621K +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3074873	NM_000540.3(RYR1):c.3174G>T (p.Glu1058Asp)	RYR1 (E1058D)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3074872	NM_000540.3(RYR1):c.9261C>G (p.Ile3087Met)	RYR1 (I3087M)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3074869	NM_000540.3(RYR1):c.5485C>A (p.Pro1829Thr)	RYR1 (P1829T)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3074861	NM_000540.3(RYR1):c.1731C>A (p.Ile577=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign

<< First< Prev

Page of 35