ClinVar for Gene (Select 4634) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3373128	NM_000258.3(MYL3):c.81del (p.Glu28fs)	MYL3 (E28fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3362887	NM_000258.3(MYL3):c.488G>C (p.Arg163Thr)	MYL3 (R105T +1 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3336916	NM_000258.3(MYL3):c.182T>C (p.Phe61Ser)	MYL3 (F3S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3297573	NM_000258.3(MYL3):c.307+2T>C	MYL3	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype	GUncertain significance
Select item 3297572	NM_000258.3(MYL3):c.498A>G (p.Glu166=)	MYL3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3230924	NM_000258.3(MYL3):c.512A>C (p.Lys171Thr)	MYL3 (K108T +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3230923	NM_000258.3(MYL3):c.35A>G (p.Asp12Gly)	MYL3 (D12G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3230922	NM_000258.3(MYL3):c.242G>A (p.Arg81Gln)	MYL3 (R23Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3075513	NM_000258.3(MYL3):c.2del (p.Met1fs)	MYL3 (M1fs)	Deletion (frameshift variant +1 more)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3075512	NM_000258.3(MYL3):c.177G>A (p.Met59Ile)	MYL3 (M1I +1 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3075511	NM_000258.3(MYL3):c.232G>A (p.Asp78Asn)	MYL3 (D20N +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3075510	NM_000258.3(MYL3):c.232G>T (p.Asp78Tyr)	MYL3 (D20Y +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3075509	NM_000258.3(MYL3):c.241C>A (p.Arg81=)	MYL3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3075508	NM_000258.3(MYL3):c.312C>T (p.Leu104=)	MYL3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3075507	NM_000258.3(MYL3):c.541G>A (p.Gly181Ser)	MYL3 (G118S +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3075506	NM_000258.3(MYL3):c.556G>A (p.Glu186Lys)	MYL3 (E123K +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3075341	NM_000258.3(MYL3):c.50C>G (p.Pro17Arg)	MYL3 (P17R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3074932	NM_000258.3(MYL3):c.366C>T (p.Ser122=)	MYL3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3074917	NM_000258.3(MYL3):c.318del (p.Lys107fs)	MYL3 (K107fs +1 more)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3074429	NM_000258.3(MYL3):c.572A>G (p.His191Arg)	MYL3 (H128R +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3074283	NM_000258.3(MYL3):c.490C>T (p.Leu164=)	MYL3	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3073820	NM_000258.3(MYL3):c.193C>A (p.Pro65Thr)	MYL3 (P65T +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3073582	NM_000258.3(MYL3):c.259C>T (p.Pro87Ser)	MYL3 (P29S +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3073480	NM_000258.3(MYL3):c.394G>A (p.Asp132Asn)	MYL3 (D132N +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3072953	NM_000258.3(MYL3):c.502G>C (p.Glu168Gln)	MYL3 (E105Q +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3072752	NM_000258.3(MYL3):c.230G>T (p.Gly77Val)	MYL3 (G19V +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3072685	NM_000258.3(MYL3):c.504del (p.Val169fs)	MYL3 (V106fs +2 more)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3072684	NM_000258.3(MYL3):c.485_501del (p.Glu162fs)	MYL3 (E104fs +1 more)	Deletion (frameshift variant +1 more)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3072643	NM_000258.3(MYL3):c.351dup (p.Leu118fs)	MYL3 (L118fs +1 more)	Duplication (frameshift variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3072197	NM_000258.3(MYL3):c.307+4del	MYL3	Deletion (intron variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3072175	NM_000258.3(MYL3):c.125T>C (p.Ile42Thr)	MYL3 (I42T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3072125	NM_000258.3(MYL3):c.158-14C>T	MYL3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3071770	NM_000258.3(MYL3):c.206T>C (p.Met69Thr)	MYL3 (M11T +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3071755	NM_000258.3(MYL3):c.74C>A (p.Pro25His)	MYL3 (P25H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3071517	NM_000258.3(MYL3):c.215C>A (p.Thr72Asn)	MYL3 (T14N +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3070868	NM_000258.3(MYL3):c.101A>T (p.Glu34Val)	MYL3 (E34V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3070760	NM_000258.3(MYL3):c.458_459insCCAGCAAACCATTACTGCATGTCACCACG (p.Arg154fs)	MYL3 (R154fs +1 more)	Insertion (frameshift variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3070759	NM_000258.3(MYL3):c.455_456insT (p.Glu152fs)	MYL3 (E152fs +1 more)	Insertion (frameshift variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3070758	NM_000258.3(MYL3):c.453_454insCTCACTCGACCTTCTCACTTCTCCATAGGTGTCAGCGCCTACCACCAGGGGGCCTGGCAAATCAGCATGGATCCA (p.Ala151_Glu152insLeuThrArgProSerHisPheSerIleGlyValSerAlaTyrHisGlnGlyAlaTrpGlnIleSerMetAspPro)	MYL3	Insertion (inframe_insertion)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3070730	NM_000258.3(MYL3):c.308-13C>T	MYL3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3070589	NM_000258.3(MYL3):c.309G>A (p.Glu103=)	MYL3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3070423	NM_000258.3(MYL3):c.258C>G (p.Asn86Lys)	MYL3 (N28K +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3070361	NM_000258.3(MYL3):c.*1A>C	MYL3	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3070094	NM_000258.3(MYL3):c.-6C>T	MYL3	Single nucleotide variant (5 prime UTR variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3070014	NM_000258.3(MYL3):c.37G>A (p.Ala13Thr)	MYL3 (A13T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3069838	NM_000258.3(MYL3):c.58G>T (p.Ala20Ser)	MYL3 (A20S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3069579	NM_000258.3(MYL3):c.431G>A (p.Gly144Asp)	MYL3 (G144D +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3069305	NM_000258.3(MYL3):c.143C>T (p.Pro48Leu)	MYL3 (P48L)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3050528	NM_000258.3(MYL3):c.9C>T (p.Pro3=)	MYL3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3019205	NM_000258.3(MYL3):c.572A>C (p.His191Pro)	MYL3 (H191P +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3011156	NM_000258.3(MYL3):c.277C>T (p.Leu93Phe)	MYL3 (L35F +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3010329	NM_000258.3(MYL3):c.289G>A (p.Gly97Arg)	MYL3 (G97R +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3008801	NM_000258.3(MYL3):c.307+16G>T	MYL3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3005557	NM_000258.3(MYL3):c.99G>A (p.Lys33=)	MYL3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 3000916	NM_000258.3(MYL3):c.94C>T (p.Pro32Ser)	MYL3 (P32S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2995751	NM_000258.3(MYL3):c.122A>G (p.Lys41Arg)	MYL3 (K41R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2991742	NM_000258.3(MYL3):c.171C>T (p.Ala57=)	MYL3	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2964035	NM_000258.3(MYL3):c.275T>C (p.Val92Ala)	MYL3 (V34A +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2961868	NM_000258.3(MYL3):c.481+17C>T	MYL3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2961240	NM_000258.3(MYL3):c.480G>A (p.Leu160=)	MYL3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2959615	NM_000258.3(MYL3):c.441T>C (p.Thr147=)	MYL3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2887343	NM_000258.3(MYL3):c.287T>C (p.Leu96Pro)	MYL3 (L38P +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2884678	NM_000258.3(MYL3):c.233A>T (p.Asp78Val)	MYL3 (D78V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2869484	NM_000258.3(MYL3):c.559+20G>A	MYL3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2860353	NM_000258.3(MYL3):c.389A>G (p.Tyr130Cys)	MYL3 (Y130C +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2840475	NM_000258.3(MYL3):c.60T>A (p.Ala20=)	MYL3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2832901	NM_000258.3(MYL3):c.31G>T (p.Asp11Tyr)	MYL3 (D11Y)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2831419	NM_000258.3(MYL3):c.22C>A (p.Pro8Thr)	MYL3 (P8T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2823484	NM_000258.3(MYL3):c.563_566dup (p.Lys190fs)	MYL3 (K132fs +2 more)	Duplication (frameshift variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2810892	NM_000258.3(MYL3):c.307+16G>C	MYL3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2793286	NM_000258.3(MYL3):c.306A>G (p.Glu102=)	MYL3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2773990	NM_000258.3(MYL3):c.1A>G (p.Met1Val)	MYL3 (M1V)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +1 more	GUncertain significance
Select item 2773989	NM_000258.3(MYL3):c.31G>A (p.Asp11Asn)	MYL3 (D11N)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2773988	NM_000258.3(MYL3):c.307+4G>T	MYL3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2773987	NM_000258.3(MYL3):c.310C>A (p.Leu104Ile)	MYL3 (L104I +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2773986	NM_000258.3(MYL3):c.344T>C (p.Leu115Pro)	MYL3 (L115P +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2773985	NM_000258.3(MYL3):c.430G>A (p.Gly144Ser)	MYL3 (G144S +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2773984	NM_000258.3(MYL3):c.551A>G (p.Asn184Ser)	MYL3 (N126S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2773983	NM_000258.3(MYL3):c.560-19_560-16del	MYL3	Microsatellite (intron variant)	Cardiomyopathy +1 more	GLikely benign
Select item 2765394	NM_000258.3(MYL3):c.383G>T (p.Gly128Val)	MYL3 (G70V +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2749961	NM_000258.3(MYL3):c.216C>T (p.Thr72=)	MYL3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2734491	NM_000258.3(MYL3):c.64G>T (p.Ala22Ser)	MYL3 (A22S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2734490	NM_000258.3(MYL3):c.374A>G (p.Lys125Arg)	MYL3 (K67R +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2733695	NM_000258.3(MYL3):c.481+4A>G	MYL3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2718667	NM_000258.3(MYL3):c.540T>G (p.Asn180Lys)	MYL3 (N122K +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2718403	NM_000258.3(MYL3):c.210G>C (p.Lys70Asn)	MYL3 (K12N +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2691223	NM_000258.3(MYL3):c.214A>G (p.Thr72Ala)	MYL3 (T14A +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2629895	NM_000258.3(MYL3):c.349A>C (p.Met117Leu)	MYL3 (M117L +1 more)	Single nucleotide variant (missense variant)	MYL3-related disorder +1 more	GUncertain significance
Select item 2587154	NM_000258.3(MYL3):c.432C>T (p.Gly144=)	MYL3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GUncertain significance
Select item 2452882	NM_000258.3(MYL3):c.418T>C (p.Phe140Leu)	MYL3 (F140L +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2425284	NC_000003.11:g.(?_45435946)_(49137751_?)dup	ALS2CL, ARIH2 +66 more	Duplication	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 2422701	NC_000003.11:g.(?_46899734)_(46904880_?)dup	MYL3	Duplication	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2414508	NM_000258.3(MYL3):c.559+16_559+31del	MYL3	Deletion (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2201997	NM_000258.3(MYL3):c.129+19T>C	MYL3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2156244	NM_000258.3(MYL3):c.157+9G>C	MYL3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2156134	NM_000258.3(MYL3):c.307+4G>C	MYL3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2154126	NM_000258.3(MYL3):c.171C>G (p.Ala57=)	MYL3	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2153844	NM_000258.3(MYL3):c.308-16G>A	MYL3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2149018	NM_000258.3(MYL3):c.337A>G (p.Thr113Ala)	MYL3 (T113A +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2145539	NM_000258.3(MYL3):c.486G>C (p.Glu162Asp)	MYL3 (E104D +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance

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