C0878544[trait identifier] AND "CSER _CC_NCGL, University of Washingto - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 48062	NM_170707.4(LMNA):c.357C>T (p.Arg119=)	LOC126805877, LMNA	Single nucleotide variant (synonymous variant)	Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules +16 more	GConflicting classifications of pathogenicity
Select item 66906	NM_170707.4(LMNA):c.565C>T (p.Arg189Trp)	LMNA (R189W +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +15 more	GUncertain significance
Select item 48092	NM_170707.4(LMNA):c.895A>G (p.Ile299Val)	LMNA (I299V +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 48091	NM_170707.4(LMNA):c.986G>A (p.Arg329His)	LMNA (R329H +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +15 more	GUncertain significance
Select item 161292	NM_170707.4(LMNA):c.1001G>A (p.Ser334Asn)	LMNA (S222N +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +15 more	GUncertain significance
Select item 66802	NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys)	LMNA (R435C +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +6 more	GConflicting classifications of pathogenicity
Select item 14486	NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln)	LMNA (R482Q +2 more)	Single nucleotide variant (missense variant)	Laminopathy +15 more	GPathogenic
Select item 14499	NM_170707.4(LMNA):c.1580G>A (p.Arg527His)	LMNA (R527H +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +4 more	GPathogenic
Select item 48052	NM_170707.4(LMNA):c.1804G>A (p.Gly602Ser)	LMNA (G572S +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +5 more	GConflicting classifications of pathogenicity
Select item 14527	NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys)	LMNA (R644C +6 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2 +17 more	GConflicting classifications of pathogenicity
Select item 161291	NM_170707.4(LMNA):c.1931G>A (p.Arg644His)	LMNA (R532H +2 more)	Single nucleotide variant (missense variant +1 more)	Lethal tight skin contracture syndrome +5 more	GConflicting classifications of pathogenicity
Select item 43677	NM_001276345.2(TNNT2):c.887G>A (p.Arg296His)	TNNT2 (R286H +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GUncertain significance
Select item 43667	NM_001276345.2(TNNT2):c.762G>T (p.Glu254Asp)	TNNT2 (E244D +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 43619	NM_001276345.2(TNNT2):c.260C>T (p.Pro87Leu)	TNNT2 (P77L +3 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GUncertain significance
Select item 43675	NM_000364.3(TNNT2):c.113C>T (p.Ala38Val)	TNNT2 (A28V +2 more)	Single nucleotide variant	Supraventricular tachycardia +8 more	GConflicting classifications of pathogenicity
Select item 161382	NM_001035.3(RYR2):c.556G>A (p.Val186Met)	RYR2 (V186M)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 161383	NM_001035.3(RYR2):c.1396C>G (p.Pro466Ala)	RYR2 (P466A)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GUncertain significance
Select item 43759	NM_001035.3(RYR2):c.2402G>T (p.Arg801Leu)	RYR2 (R801L)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 161381	NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln)	RYR2 (R1013Q)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 463596	NM_001035.3(RYR2):c.3484G>A (p.Val1162Met)	RYR2 (V1162M)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +4 more	GUncertain significance
Select item 375865	NM_001035.3(RYR2):c.5822G>A (p.Arg1941His)	RYR2 (R1941H)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +6 more	GUncertain significance
Select item 161380	NM_001035.3(RYR2):c.7493C>T (p.Ala2498Val)	RYR2 (A2498V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 43828	NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr)	RYR2 (I2721T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 496655	NM_001035.3(RYR2):c.12023A>G (p.Asn4008Ser)	RYR2 (N4008S)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 161384	NM_001035.3(RYR2):c.13666G>A (p.Ala4556Thr)	RYR2 (A4556T)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +4 more	GUncertain significance
Select item 36765	NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu)	SCN5A (V1950L +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome 3 +13 more	GBenign/Likely benign
Select item 68003	NM_000335.5(SCN5A):c.5686C>T (p.Arg1896Trp)	SCN5A (R1896W +5 more)	Single nucleotide variant (missense variant)	not provided +13 more	GUncertain significance
Select item 67712	NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys)	SCN5A (Q692K)	Single nucleotide variant (missense variant)	Long QT syndrome +11 more	GConflicting classifications of pathogenicity
Select item 67682	NM_000335.5(SCN5A):c.1714G>T (p.Ala572Ser)	SCN5A (A572S)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 36648	NM_000258.3(MYL3):c.530A>G (p.Glu177Gly)	MYL3 (E177G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 8 +5 more	GUncertain significance
Select item 31778	NM_000258.3(MYL3):c.466G>A (p.Val156Met)	MYL3 (V156M)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 43124	NM_000258.3(MYL3):c.460C>T (p.Arg154Cys)	MYL3 (R154C)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 161329	NM_000258.3(MYL3):c.235G>A (p.Val79Ile)	MYL3 (V79I)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 16846	NM_004415.4(DSP):c.88G>A (p.Val30Met)	DSP, DSP-AS1 (V30M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 44875	NM_004415.4(DSP):c.242G>A (p.Cys81Tyr)	DSP (C81Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +10 more	GConflicting classifications of pathogenicity
Select item 161226	NM_004415.4(DSP):c.1696G>A (p.Ala566Thr)	DSP (A566T)	Single nucleotide variant (missense variant)	Palmoplantar blistering +11 more	GConflicting classifications of pathogenicity
Select item 44867	NM_004415.4(DSP):c.1778A>G (p.Asn593Ser)	DSP (N593S)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GBenign/Likely benign
Select item 44874	NM_004415.4(DSP):c.2422C>T (p.Arg808Cys)	DSP (R808C)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 44906	NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly)	DSP (R1458G)	Single nucleotide variant (missense variant +1 more)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 44926	NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys)	DSP (E1740K)	Single nucleotide variant (missense variant +1 more)	Lethal acantholytic epidermolysis bullosa +11 more	GConflicting classifications of pathogenicity
Select item 161227	NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile)	DSP (R1775I)	Single nucleotide variant (missense variant +1 more)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 161225	NM_004415.4(DSP):c.5513G>A (p.Arg1838His)	DSP (R1239H +2 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 180336	NM_004415.4(DSP):c.6307A>G (p.Lys2103Glu)	DSP (K2103E +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +9 more	GConflicting classifications of pathogenicity
Select item 44943	NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly)	DSP (A2294G +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 36697	NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser)	PRKAG2 (G100S +1 more)	Single nucleotide variant (missense variant)	Lethal congenital glycogen storage disease of heart +7 more	GConflicting classifications of pathogenicity
Select item 161210	NM_201596.3(CACNB2):c.590C>T (p.Ser197Phe)	CACNB2 (S142F +4 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 178111	NM_001134363.3(RBM20):c.680G>T (p.Gly227Val)	RBM20 (G227V)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 43971	NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu)	RBM20 (S455L)	Single nucleotide variant (missense variant)	Long QT syndrome +5 more	GBenign/Likely benign
Select item 43986	NM_001134363.3(RBM20):c.2147G>A (p.Arg716Gln)	RBM20 (R716Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 43995	NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn)	RBM20 (D888N)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 67020	NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn)	KCNQ1 (K393N +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1 +10 more	GConflicting classifications of pathogenicity
Select item 42739	NM_000256.3(MYBPC3):c.3742G>A (p.Gly1248Arg)	MYBPC3 (G1248R)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 161306	NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys)	MYBPC3 (R1228C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +7 more	GConflicting classifications of pathogenicity
Select item 162506	NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter)	MYBPC3 (W1214*)	Single nucleotide variant (nonsense)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 161307	NM_000256.3(MYBPC3):c.3412C>T (p.Arg1138Cys)	MYBPC3 (R1138C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +5 more	GUncertain significance
Select item 161301	NM_000256.3(MYBPC3):c.3137C>T (p.Thr1046Met)	MYBPC3 (T1046M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 42679	NM_000256.3(MYBPC3):c.3049G>A (p.Glu1017Lys)	MYBPC3 (E1017K)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 180992	NM_000256.3(MYBPC3):c.2980C>T (p.Leu994Phe)	MYBPC3 (L994F)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 42665	NM_000256.3(MYBPC3):c.2882C>T (p.Pro961Leu)	MYBPC3 (P961L)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 42664	NM_000256.3(MYBPC3):c.2873C>T (p.Thr958Ile)	MYBPC3 (T958I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 36607	NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser)	MYBPC3 (T957S)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10 +7 more	GConflicting classifications of pathogenicity
Select item 42652	NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met)	MYBPC3 (V896M)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +8 more	GBenign/Likely benign
Select item 30143	NM_000256.3(MYBPC3):c.2618C>A (p.Pro873His)	MYBPC3 (P873H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +6 more	GUncertain significance
Select item 42626	NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr)	MYBPC3 (A833T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 42620	NM_000256.3(MYBPC3):c.2429G>A (p.Arg810His)	MYBPC3 (R810H)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 42618	NM_000256.3(MYBPC3):c.2320G>A (p.Ala774Thr)	MYBPC3 (A774T)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +6 more	GUncertain significance
Select item 161308	NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met)	MYBPC3 (V771M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +6 more	GConflicting classifications of pathogenicity
Select item 42610	NM_000256.3(MYBPC3):c.2308+1G>A	MYBPC3	Single nucleotide variant (splice donor variant)	not provided +4 more	GPathogenic
Select item 161309	NM_000256.3(MYBPC3):c.2269G>A (p.Val757Met)	MYBPC3 (V757M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +5 more	GUncertain significance
Select item 161302	NM_000256.3(MYBPC3):c.2035C>T (p.Pro679Ser)	MYBPC3 (P679S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 161303	NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys)	MYBPC3 (E619K)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10 +6 more	GConflicting classifications of pathogenicity
Select item 42575	NM_000256.3(MYBPC3):c.1828G>A (p.Asp610Asn)	MYBPC3 (D610N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 8608	NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln)	MYBPC3 (E542Q)	Single nucleotide variant (missense variant)	not provided +8 more	GPathogenic
Select item 42545	NM_000256.3(MYBPC3):c.1564G>A (p.Ala522Thr)	MYBPC3 (A522T)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +6 more	GBenign/Likely benign
Select item 42543	NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg)	MYBPC3 (G507R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 42540	NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp)	MYBPC3 (R502W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GPathogenic/Likely pathogenic
Select item 42536	NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg)	MYBPC3 (G490R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 42527	NM_000256.3(MYBPC3):c.1373G>A (p.Arg458His)	MYBPC3 (R458H)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 161314	NM_000256.3(MYBPC3):c.1370C>T (p.Thr457Met)	MYBPC3 (T457M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 36601	NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys)	MYBPC3 (E441K)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 42518	NM_000256.3(MYBPC3):c.1286C>T (p.Ala429Val)	MYBPC3 (A429V)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 42515	NM_000256.3(MYBPC3):c.1246G>A (p.Gly416Ser)	MYBPC3 (G416S)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 219403	NM_000256.3(MYBPC3):c.1153G>A (p.Val385Met)	MYBPC3 (V385M)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10 +4 more	GUncertain significance
Select item 161310	NM_000256.3(MYBPC3):c.961G>A (p.Val321Met)	MYBPC3 (V321M)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +9 more	GConflicting classifications of pathogenicity
Select item 162500	NM_000256.3(MYBPC3):c.852-1G>T	MYBPC3	Single nucleotide variant (splice acceptor variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 42798	NM_000256.3(MYBPC3):c.836G>C (p.Gly279Ala)	MYBPC3 (G279A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 161312	NM_000256.3(MYBPC3):c.818G>A (p.Arg273His)	MYBPC3 (R273H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +6 more	GUncertain significance
Select item 161315	NM_000256.3(MYBPC3):c.787G>A (p.Gly263Arg)	MYBPC3 (G263R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +5 more	GUncertain significance
Select item 161304	NM_000256.3(MYBPC3):c.682G>A (p.Asp228Asn)	MYBPC3 (D228N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GUncertain significance
Select item 42779	NM_000256.3(MYBPC3):c.646G>A (p.Ala216Thr)	MYBPC3 (A216T)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 42775	NM_000256.3(MYBPC3):c.624G>C (p.Gln208His)	MYBPC3 (Q208H)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 42767	NM_000256.3(MYBPC3):c.530G>A (p.Arg177His)	MYBPC3 (R177H)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GBenign/Likely benign
Select item 36613	NM_000256.3(MYBPC3):c.529C>T (p.Arg177Cys)	MYBPC3 (R177C)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10 +6 more	GConflicting classifications of pathogenicity
Select item 161311	NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp)	MYBPC3 (R160W)	Single nucleotide variant (missense variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 42756	NM_000256.3(MYBPC3):c.461T>C (p.Ile154Thr)	MYBPC3 (I154T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 161313	NM_000256.3(MYBPC3):c.223G>A (p.Asp75Asn)	MYBPC3 (D75N)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 42577	NM_000256.3(MYBPC3):c.184A>C (p.Thr62Pro)	MYBPC3 (T62P)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 42644	NM_000256.3(MYBPC3):c.26-2A>G	MYBPC3	Single nucleotide variant (splice acceptor variant)	Hypertrophic cardiomyopathy 4 +7 more	GPathogenic/Likely pathogenic
Select item 161305	NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg)	MYBPC3 (G5R)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 10 +6 more	GConflicting classifications of pathogenicity
Select item 45068	NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser)	PKP2 (R811S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity

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