ClinVar (all) for Orgtrack (Select 1160) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 800567	NM_001382430.1(AKT1):c.49_50delinsAG (p.Glu17Arg)	AKT1 (E17R)	Indel (missense variant)	Proteus syndrome	GPathogenic
Select item 617463	NM_003491.4(NAA10):c.*43A>G	NAA10	Single nucleotide variant (3 prime UTR variant)	Microphthalmia, syndromic 1	GLikely pathogenic
Select item 617462	NM_003491.4(NAA10):c.*39A>G	NAA10	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 617458	NM_003491.4(NAA10):c.*40A>G	NAA10	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 486935	NM_000535.7(PMS2):c.1471G>T (p.Glu491Ter)	PMS2 (E491* +7 more)	Single nucleotide variant (nonsense +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GPathogenic/Likely pathogenic
Select item 266102	NM_024685.4(BBS10):c.959_962del (p.Ser320fs)	BBS10 (S320fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome 10 +1 more	GPathogenic/Likely pathogenic
Select item 254179	NM_015041.3(CLUAP1):c.338T>G (p.Met113Arg)	CLUAP1 (M113R)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis	GLikely pathogenic
Select item 254178	NM_015041.3(CLUAP1):c.688C>T (p.Arg230Ter)	CLUAP1 (R230* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 226411	NM_005379.4(MYO1A):c.2021G>A (p.Gly674Asp)	MYO1A (G674D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 226410	NM_005379.4(MYO1A):c.1011+2T>G	MYO1A	Single nucleotide variant (splice donor variant)	Autosomal dominant nonsyndromic hearing loss 48	GLikely benign
Select item 226409	NM_005379.4(MYO1A):c.640+1G>C	MYO1A	Single nucleotide variant (splice donor variant)	Autosomal dominant nonsyndromic hearing loss 48	GLikely benign
Select item 226408	NM_005379.4(MYO1A):c.235G>T (p.Ala79Ser)	MYO1A, LOC126861538 (A79S)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 48 +1 more	GBenign/Likely benign
Select item 224411	NM_000540.3(RYR1):c.1808_1823del (p.Cys603fs)	RYR1 (C603fs)	Deletion (frameshift variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 224410	NM_000540.3(RYR1):c.8231+1G>A	RYR1	Single nucleotide variant (splice donor variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 224409	NM_000540.3(RYR1):c.15098A>G (p.Tyr5033Cys)	RYR1 (Y5033C +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +1 more	GUncertain significance
Select item 224408	NM_000540.3(RYR1):c.14929G>C (p.Glu4977Gln)	RYR1 (E4977Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 224407	NM_000540.3(RYR1):c.14915C>T (p.Thr4972Ile)	RYR1 (T4972I +1 more)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +6 more	GUncertain significance
Select item 224406	NM_000540.3(RYR1):c.14901C>G (p.Asp4967Glu)	RYR1 (D4967E +1 more)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +6 more	GUncertain significance
Select item 224405	NM_000540.3(RYR1):c.14189G>T (p.Gly4730Val)	RYR1 (G4730V +1 more)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +5 more	GUncertain significance
Select item 224404	NM_000540.3(RYR1):c.14167C>T (p.Arg4723Cys)	RYR1 (R4723C +1 more)	Single nucleotide variant (missense variant)	RYR1-related disorder +2 more	GUncertain significance
Select item 224403	NM_000540.3(RYR1):c.13502C>T (p.Pro4501Leu)	RYR1 (P4501L +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GBenign FDA Recognized database
Select item 224402	NM_000540.3(RYR1):c.12553G>A (p.Ala4185Thr)	RYR1 (A4185T +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GUncertain significance FDA Recognized database
Select item 224401	NM_000540.3(RYR1):c.11731A>G (p.Thr3911Ala)	RYR1 (T3911A +1 more)	Single nucleotide variant (missense variant)	RYR1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 224400	NM_000540.3(RYR1):c.11599C>T (p.Arg3867Cys)	RYR1 (R3867C +1 more)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 224399	NM_000540.3(RYR1):c.10664A>T (p.Asn3555Ile)	RYR1 (N3555I +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +1 more	GConflicting classifications of pathogenicity
Select item 224398	NM_000540.3(RYR1):c.10492C>G (p.Arg3498Gly)	RYR1 (R3498G +1 more)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +6 more	GUncertain significance
Select item 224397	NM_000540.3(RYR1):c.10183C>T (p.Arg3395Trp)	RYR1 (R3395W)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +1 more	GUncertain significance
Select item 224396	NM_000540.3(RYR1):c.10046C>G (p.Ala3349Gly)	RYR1 (A3349G)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 224395	NM_000540.3(RYR1):c.9800C>T (p.Pro3267Leu)	RYR1 (P3267L)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +6 more	GUncertain significance
Select item 224394	NM_000540.3(RYR1):c.9347C>T (p.Ser3116Leu)	RYR1 (S3116L)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +2 more	GUncertain significance
Select item 224393	NM_000540.3(RYR1):c.8155T>C (p.Tyr2719His)	RYR1 (Y2719H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 224392	NM_000540.3(RYR1):c.8113G>A (p.Ala2705Thr)	RYR1 (A2705T)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +5 more	GUncertain significance
Select item 224391	NM_000540.3(RYR1):c.7958A>G (p.Lys2653Arg)	RYR1 (K2653R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 224390	NM_000540.3(RYR1):c.7902C>A (p.Asn2634Lys)	RYR1 (N2634K)	Single nucleotide variant (missense variant)	RYR1-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 224389	NM_000540.3(RYR1):c.6700C>T (p.Arg2234Cys)	RYR1 (R2234C)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +2 more	GConflicting classifications of pathogenicity
Select item 224388	NM_000540.3(RYR1):c.6688A>T (p.Thr2230Ser)	RYR1 (T2230S)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 224387	NM_000540.3(RYR1):c.6670C>T (p.Arg2224Cys)	RYR1 (R2224C)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign FDA Recognized database
Select item 224386	NM_000540.3(RYR1):c.6607A>G (p.Met2203Val)	RYR1 (M2203V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +1 more	GUncertain significance
Select item 224385	NM_000540.3(RYR1):c.6301A>G (p.Met2101Val)	RYR1 (M2101V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +2 more	GUncertain significance
Select item 224384	NM_000540.3(RYR1):c.6191T>G (p.Met2064Arg)	RYR1 (M2064R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 224383	NM_000540.3(RYR1):c.5980C>T (p.Arg1994Cys)	RYR1 (R1994C)	Single nucleotide variant (missense variant)	RYR1-related disorder +2 more	GUncertain significance
Select item 224382	NM_000540.3(RYR1):c.5317C>T (p.Pro1773Ser)	RYR1 (P1773S)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GBenign FDA Recognized database
Select item 224381	NM_000540.3(RYR1):c.5308T>G (p.Ser1770Ala)	RYR1 (S1770A)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +1 more	GUncertain significance
Select item 224380	NM_000540.3(RYR1):c.4999C>T (p.Arg1667Cys)	RYR1 (R1667C)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GBenign FDA Recognized database
Select item 224379	NM_000540.3(RYR1):c.3431C>T (p.Pro1144Leu)	RYR1 (P1144L)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +1 more	GConflicting classifications of pathogenicity
Select item 224378	NM_000540.3(RYR1):c.2824G>A (p.Asp942Asn)	RYR1 (D942N)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +1 more	GUncertain significance
Select item 224377	NM_000540.3(RYR1):c.2822C>T (p.Ala941Val)	RYR1 (A941V)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 224376	NM_000540.3(RYR1):c.2812G>A (p.Val938Met)	RYR1 (V938M)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +5 more	GUncertain significance
Select item 224375	NM_000540.3(RYR1):c.2697C>A (p.Asn899Lys)	RYR1 (N899K)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +6 more	GUncertain significance
Select item 224374	NM_000540.3(RYR1):c.2533C>T (p.Leu845Phe)	RYR1 (L845F)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +1 more	GUncertain significance
Select item 224373	NM_000540.3(RYR1):c.2467G>C (p.Glu823Gln)	RYR1 (E823Q)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +6 more	GUncertain significance
Select item 224372	NM_000540.3(RYR1):c.2461C>A (p.His821Asn)	RYR1 (H821N)	Single nucleotide variant (missense variant)	RYR1-related disorder +1 more	GUncertain significance
Select item 224371	NM_000540.3(RYR1):c.2255C>T (p.Pro752Leu)	RYR1 (P752L)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 224370	NM_000540.3(RYR1):c.2173G>A (p.Val725Met)	RYR1 (V725M)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 224369	NM_000540.3(RYR1):c.2075C>T (p.Thr692Ile)	RYR1 (T692I)	Single nucleotide variant (missense variant)	RYR1-related disorder +2 more	GUncertain significance
Select item 224368	NM_000540.3(RYR1):c.1753A>G (p.Ile585Val)	RYR1 (I585V)	Single nucleotide variant (missense variant)	RYR1-related disorder +2 more	GUncertain significance
Select item 224367	NM_000540.3(RYR1):c.1661A>G (p.Glu554Gly)	RYR1 (E554G)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 224366	NM_000540.3(RYR1):c.1474C>T (p.Arg492Cys)	LOC129391106, RYR1 (R492C)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 224365	NM_000540.3(RYR1):c.1384G>A (p.Glu462Lys)	RYR1 (E462K)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 224364	NM_000540.3(RYR1):c.1099C>T (p.Arg367Trp)	RYR1 (R367W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 224363	NM_000540.3(RYR1):c.376A>G (p.Met126Val)	RYR1 (M126V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 224362	NM_000540.3(RYR1):c.89A>T (p.Glu30Val)	RYR1 (E30V)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 218465	NM_000540.3(RYR1):c.11049GGA[4] (p.Glu3689del)	RYR1 (E3689del +1 more)	Microsatellite (inframe_deletion)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 202507	NM_001267550.2(TTN):c.11183dup (p.Leu3729fs)	TTN (L3558fs +1 more)	Duplication (frameshift variant +1 more)	not specified +3 more	GUncertain significance
Select item 202444	NM_133378.4(TTN):c.37385_37387delAAG	LOC126806427, TTN	Microsatellite (splice acceptor variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 197946	NM_000540.3(RYR1):c.8327C>T (p.Ser2776Phe)	LOC126862902, RYR1 (S2776F)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign FDA Recognized database
Select item 192217	NM_001267550.2(TTN):c.36299A>T (p.Glu12100Val)	TTN (E12100V)	Single nucleotide variant (missense variant +1 more)	Myopathy, myofibrillar, 9, with early respiratory failure +6 more	GBenign
Select item 192216	NM_001267550.2(TTN):c.36347A>G (p.Glu12116Gly)	TTN (E12116G)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GBenign/Likely benign
Select item 192215	NM_001267550.2(TTN):c.36508G>A (p.Glu12170Lys)	TTN (E12170K)	Single nucleotide variant (missense variant +1 more)	not specified +6 more	GBenign
Select item 192214	NM_001267550.2(TTN):c.36625G>T (p.Val12209Leu)	TTN (V12209L)	Single nucleotide variant (missense variant +1 more)	Early-onset myopathy with fatal cardiomyopathy +6 more	GBenign
Select item 192213	NM_001267550.2(TTN):c.37461A>T (p.Glu12487Asp)	TTN (E12487D)	Single nucleotide variant (missense variant +1 more)	not specified +6 more	GBenign
Select item 192212	NM_001267550.2(TTN):c.40222+2TA[12]	TTN	Microsatellite (intron variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 192211	NM_001267550.2(TTN):c.40222+2TA[10]	TTN	Microsatellite (intron variant +1 more)	Dilated cardiomyopathy 1G +3 more	GBenign/Likely benign
Select item 192210	NM_001267550.2(TTN):c.59584C>T (p.Pro19862Ser)	LOC126806424, TTN +1 more (P17294S +5 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 192209	NM_001267550.2(TTN):c.68457G>C (p.Met22819Ile)	TTN, TTN-AS1 (M20251I +5 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 192208	NM_001267550.2(TTN):c.69129C>T (p.Pro23043=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 192207	NM_001267550.2(TTN):c.69144A>G (p.Glu23048=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 192206	NM_001267550.2(TTN):c.69739C>T (p.Pro23247Ser)	LOC126806422, TTN +1 more (P20679S +5 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 192205	NM_001267550.2(TTN):c.77278A>G (p.Asn25760Asp)	TTN, TTN-AS1 (N23192D +5 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 192204	NM_001267550.2(TTN):c.79317C>T (p.Arg26439=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 192203	NM_001267550.2(TTN):c.79862C>A (p.Thr26621Lys)	TTN, TTN-AS1 (T24053K +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +6 more	GConflicting classifications of pathogenicity
Select item 192202	NM_001267550.2(TTN):c.80700A>G (p.Glu26900=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 192201	NM_001267550.2(TTN):c.91572A>G (p.Pro30524=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 192200	NM_001267550.2(TTN):c.91936A>G (p.Asn30646Asp)	TTN, TTN-AS1 (N28078D +5 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 192199	NM_001267550.2(TTN):c.98389A>G (p.Asn32797Asp)	TTN, TTN-AS1 (N30229D +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GBenign
Select item 192198	NM_001267550.2(TTN):c.100095G>A (p.Arg33365=)	LOC126806420, TTN +1 more	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 192197	NM_001267550.2(TTN):c.101211C>T (p.Leu33737=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 192196	NM_001267550.2(TTN):c.102832G>T (p.Gly34278Ter)	TTN, TTN-AS1 (G31710* +5 more)	Single nucleotide variant (nonsense)	not specified	GBenign
Select item 192195	NM_001267550.2(TTN):c.105781C>T (p.Pro35261Ser)	LOC129935183, TTN +1 more (P32693S +5 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 192194	NM_000337.6(SGCD):c.91C>G (p.Arg31Gly)	SGCD (R31G +1 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 192193	NM_000021.4(PSEN1):c.782T>G (p.Val261Gly)	PSEN1 (V261G +1 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 192192	NM_032578.4(MYPN):c.3421G>A (p.Ala1141Thr)	MYPN (A1141T +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 192191	NM_000257.4(MYH7):c.1301G>A (p.Arg434Lys)	MYH7 (R434K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 192190	NM_170707.4(LMNA):c.357-739T>G	LMNA	Single nucleotide variant (intron variant)	Hutchinson-Gilford syndrome +2 more	GBenign
Select item 192189	NM_007078.3(LDB3):c.1330G>A (p.Ala444Thr)	LDB3 (A334T +4 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 192188	NM_007078.3(LDB3):c.1325C>T (p.Ala442Val)	LDB3 (A332V +4 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 192187	NM_001105206.3(LAMA4):c.297+2368G>A	LAMA4	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 192185	NM_001943.5(DSG2):c.2568A>C (p.Lys856Asn)	DSG2, DSG2-AS1 (K856N)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GBenign
Select item 192183	NM_145046.5(CALR3):c.820G>A (p.Val274Ile)	CALR3 (V274I)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 192182	NM_145046.5(CALR3):c.850G>A (p.Asp284Asn)	CALR3 (D284N)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign

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