ClinVar for MedGen (Select 324735) - ClinVar

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

Result Filters

Links from MedGen

Items: 34

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 15077161.	NM_001289808.2(CRYAB):c.362A>G (p.Lys121Arg) GRCh37: Chr11:111779654 GRCh38: Chr11:111908930	CRYAB	K54R, K121R	Dilated cardiomyopathy 1II, Myofibrillar myopathy 2, Cataract 16 multiple types, Fatal infantile hypertonic myofibrillar myopathy, Dilated cardiomyopathy 1II	Uncertain significance (Dec 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 15068122.	NM_001289808.2(CRYAB):c.503C>G (p.Ala168Gly) GRCh37: Chr11:111779513 GRCh38: Chr11:111908789	CRYAB	A101G, A168G	Myofibrillar myopathy 2, Dilated cardiomyopathy 1II	Uncertain significance (Oct 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 14104993.	NM_001289808.2(CRYAB):c.319C>T (p.Arg107Cys) GRCh37: Chr11:111781056 GRCh38: Chr11:111910332	CRYAB	R107C, R40C	Dilated cardiomyopathy 1II, not provided, Dilated cardiomyopathy 1II, Cataract 16 multiple types, Myofibrillar myopathy 2, Fatal infantile hypertonic myofibrillar myopathy	Uncertain significance (Feb 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13904394.	NM_001289808.2(CRYAB):c.41T>C (p.Phe14Ser) GRCh37: Chr11:111782408 GRCh38: Chr11:111911684	CRYAB	F14S	Dilated cardiomyopathy 1II, Myofibrillar myopathy 2	Uncertain significance (May 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10694845.	NM_001289808.2(CRYAB):c.34C>T (p.Arg12Cys) GRCh37: Chr11:111782415 GRCh38: Chr11:111911691	CRYAB	R12C	not provided, Dilated cardiomyopathy 1II, Myofibrillar myopathy 2	Conflicting interpretations of pathogenicity (Mar 12, 2022)	criteria provided, conflicting interpretations
Select item 10447596.	NM_001289808.2(CRYAB):c.37C>A (p.Pro13Thr) GRCh37: Chr11:111782412 GRCh38: Chr11:111911688	CRYAB	P13T	Cardiovascular phenotype, Dilated cardiomyopathy 1II, not provided, Cataract 16 multiple types, Dilated cardiomyopathy 1II, Fatal infantile hypertonic myofibrillar myopathy, Myofibrillar myopathy 2	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10327827.	NM_001289808.2(CRYAB):c.519del (p.Lys174fs) GRCh37: Chr11:111779497 GRCh38: Chr11:111908773	CRYAB	K107fs, K174fs	Myofibrillar myopathy 2	Uncertain significance (Mar 19, 2018)	criteria provided, single submitter
Select item 9643488.	NM_001289808.2(CRYAB):c.31C>G (p.Arg11Gly) GRCh37: Chr11:111782418 GRCh38: Chr11:111911694	CRYAB	R11G	Cataract 16 multiple types, Fatal infantile hypertonic myofibrillar myopathy, Dilated cardiomyopathy 1II, Myofibrillar myopathy 2, not provided, Dilated cardiomyopathy 1II	Uncertain significance (Aug 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 8790709.	NM_001289808.2(CRYAB):c.176G>A (p.Ser59Asn) GRCh37: Chr11:111782273 GRCh38: Chr11:111911549	CRYAB	S59N	Cataract 16 multiple types, Myofibrillar myopathy 2, Fatal infantile hypertonic myofibrillar myopathy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87746610.	NM_001289808.2(CRYAB):c.*60G>A GRCh37: Chr11:111779428 GRCh38: Chr11:111908704	CRYAB		Fatal infantile hypertonic myofibrillar myopathy, Cataract 16 multiple types, Myofibrillar myopathy 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 81075211.	NM_001289808.2(CRYAB):c.482T>C (p.Ile161Thr) GRCh37: Chr11:111779534 GRCh38: Chr11:111908810	CRYAB	I161T, I94T	Fatal infantile hypertonic myofibrillar myopathy, Cataract 16 multiple types, Myofibrillar myopathy 2, not provided, Hypertrophic cardiomyopathy	Uncertain significance (Mar 1, 2019)	criteria provided, multiple submitters, no conflicts
Select item 80422212.	NM_001289808.2(CRYAB):c.514del (p.Ala172fs) GRCh37: Chr11:111779502 GRCh38: Chr11:111908778	CRYAB	A105fs, A172fs	Myofibrillar myopathy 2	Pathogenic (Dec 17, 2019)	criteria provided, single submitter
Select item 65775713.	NM_001289808.2(CRYAB):c.119C>T (p.Thr40Met) GRCh37: Chr11:111782330 GRCh38: Chr11:111911606	CRYAB	T40M	Dilated cardiomyopathy 1II, Myofibrillar myopathy 2, Fatal infantile hypertonic myofibrillar myopathy, Dilated cardiomyopathy 1II, Cataract 16 multiple types	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 65719014.	NM_001289808.2(CRYAB):c.115C>T (p.Pro39Ser) GRCh37: Chr11:111782334 GRCh38: Chr11:111911610	CRYAB	P39S	Cardiovascular phenotype, Dilated cardiomyopathy 1II, Myofibrillar myopathy 2, Fatal infantile hypertonic myofibrillar myopathy, Dilated cardiomyopathy 1II, Cataract 16 multiple types	Uncertain significance (Jun 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 64334515.	NM_001289808.2(CRYAB):c.275A>G (p.Lys92Arg) GRCh37: Chr11:111781100 GRCh38: Chr11:111910376	CRYAB	K25R, K92R	Cataract 16 multiple types, Myofibrillar myopathy 2, Dilated cardiomyopathy 1II, Fatal infantile hypertonic myofibrillar myopathy, Dilated cardiomyopathy 1II, not provided	Uncertain significance (Mar 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 57164616.	NM_001289808.2(CRYAB):c.115C>G (p.Pro39Ala) GRCh37: Chr11:111782334 GRCh38: Chr11:111911610	CRYAB	P39A	Cardiovascular phenotype, not provided, Myofibrillar myopathy 2, Fatal infantile hypertonic myofibrillar myopathy, Cataract 16 multiple types, Dilated cardiomyopathy 1II, Dilated cardiomyopathy 1II	Uncertain significance (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 56948217.	NM_001289808.2(CRYAB):c.65G>A (p.Arg22His) GRCh37: Chr11:111782384 GRCh38: Chr11:111911660	CRYAB	R22H	Myofibrillar myopathy 2, Dilated cardiomyopathy 1II, Fatal infantile hypertonic myofibrillar myopathy, Cataract 16 multiple types, Dilated cardiomyopathy 1II, not provided	Uncertain significance (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 41989518.	NM_001289808.2(CRYAB):c.324+13dup GRCh37: Chr11:111781031-111781032 GRCh38: Chr11:111910307-111910308	CRYAB		Myofibrillar myopathy 2, Dilated cardiomyopathy 1II, Cataract 16 multiple types, Fatal infantile hypertonic myofibrillar myopathy, not specified, Dilated cardiomyopathy 1II	Benign/Likely benign (May 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 39308819.	NM_001289808.2(CRYAB):c.367C>T (p.Arg123Trp) GRCh37: Chr11:111779649 GRCh38: Chr11:111908925	CRYAB	R123W, R56W	not provided, Myofibrillar myopathy 2, Cataract 16 multiple types, Dilated cardiomyopathy 1II, Fatal infantile hypertonic myofibrillar myopathy, Dilated cardiomyopathy 1II	Uncertain significance (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30243220.	NM_001289808.2(CRYAB):c.102G>T (p.Glu34Asp) GRCh37: Chr11:111782347 GRCh38: Chr11:111911623	CRYAB	E34D	Myofibrillar Myopathy, Dominant, Myofibrillar myopathy 2, Dilated cardiomyopathy 1II, Cataract 16 multiple types, Fatal infantile hypertonic myofibrillar myopathy, Fatal infantile hypertonic myofibrillar myopathy, Cataract 16 multiple types	Uncertain significance (Jul 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 30243021.	NM_001289808.2(CRYAB):c.*38G>C GRCh37: Chr11:111779450 GRCh38: Chr11:111908726	CRYAB		Fatal infantile hypertonic myofibrillar myopathy, Myofibrillar myopathy 2, Cataract 16 multiple types	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 30242922.	NM_001289808.2(CRYAB):c.*39T>C GRCh37: Chr11:111779449 GRCh38: Chr11:111908725	CRYAB		Posterior polar cataract, Myofibrillar Myopathy, Dominant, Myofibrillar myopathy 2	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 20168823.	NM_001289808.2(CRYAB):c.16C>T (p.His6Tyr) GRCh37: Chr11:111782433 GRCh38: Chr11:111911709	CRYAB	H6Y	Myofibrillar myopathy 2, Fatal infantile hypertonic myofibrillar myopathy, Cataract 16 multiple types, Dilated cardiomyopathy 1II, not provided	Uncertain significance (Sep 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 17801324.	NM_001289808.2(CRYAB):c.116C>T (p.Pro39Leu) GRCh37: Chr11:111782333 GRCh38: Chr11:111911609	CRYAB	P39L	Cardiovascular phenotype, not specified, not provided, Dilated cardiomyopathy 1II, Fatal infantile hypertonic myofibrillar myopathy, Cataract 16 multiple types, Myofibrillar myopathy 2	Conflicting interpretations of pathogenicity (Mar 10, 2023)	criteria provided, conflicting interpretations
Select item 4423925.	NM_001289808.2(CRYAB):c.60C>T (p.Pro20=) GRCh37: Chr11:111782389 GRCh38: Chr11:111911665	CRYAB		Cardiovascular phenotype, not specified, Dilated cardiomyopathy 1II, Cardiomyopathy, Fatal infantile hypertonic myofibrillar myopathy, Cataract 16 multiple types, Myofibrillar myopathy 2	Benign (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4423426.	NM_001289808.2(CRYAB):c.324+4T>G GRCh37: Chr11:111781047 GRCh38: Chr11:111910323	CRYAB		Myofibrillar Myopathy, Dominant, Cardiovascular phenotype, not specified, Dilated cardiomyopathy 1II, Fatal infantile hypertonic myofibrillar myopathy, Myofibrillar myopathy 2, Cataract 16 multiple types	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4423227.	NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu) GRCh37: Chr11:111782297 GRCh38: Chr11:111911573	CRYAB	P51L	Cardiovascular phenotype, Dilated cardiomyopathy 1II, not specified, not provided, Cardiomyopathy, Fatal infantile hypertonic myofibrillar myopathy, Myofibrillar myopathy 2, Cataract 16 multiple types	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 4193028.	NM_001289808.2(CRYAB):c.325G>C (p.Asp109His) GRCh37: Chr11:111779691 GRCh38: Chr11:111908967	CRYAB	D109H, D42H	Myofibrillar myopathy 2	Pathogenic (Jan 1, 2012)	no assertion criteria provided
Select item 4192529.	NM_001289808.2(CRYAB):c.470G>A (p.Arg157His) GRCh37: Chr11:111779546 GRCh38: Chr11:111908822	CRYAB	R157H, R90H	Cardiovascular phenotype, Dilated cardiomyopathy 1II, Fatal infantile hypertonic myofibrillar myopathy, Cataract 16 multiple types, Myofibrillar myopathy 2, Dilated cardiomyopathy 1II	Uncertain significance (Dec 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3896330.	NM_001289808.2(CRYAB):c.343del (p.Ser115fs) GRCh37: Chr11:111779673 GRCh38: Chr11:111908949	CRYAB	S48fs, S115fs	Dilated cardiomyopathy 1II, Myofibrillar myopathy 2, Cataract 16 multiple types, Fatal infantile hypertonic myofibrillar myopathy, Dilated cardiomyopathy 1II, not provided	Pathogenic/Likely pathogenic (Feb 9, 2023)	criteria provided, multiple submitters, no conflicts
Select item 2966931.	NM_001289808.2(CRYAB):c.60del (p.Ser21fs) GRCh37: Chr11:111782389 GRCh38: Chr11:111911665	CRYAB	S21fs	Myofibrillar myopathy 2	Pathogenic (May 1, 2011)	no assertion criteria provided
Select item 1695632.	NM_001289808.2(CRYAB):c.451C>T (p.Gln151Ter) GRCh37: Chr11:111779565 GRCh38: Chr11:111908841	CRYAB	Q151, Q84	Myofibrillar myopathy 2	Pathogenic (Dec 1, 2003)	no assertion criteria provided
Select item 1695533.	NM_001289808.2(CRYAB):c.464_465del (p.Pro155fs) GRCh37: Chr11:111779551-111779552 GRCh38: Chr11:111908827-111908828	CRYAB	P88fs, P155fs	Myofibrillar myopathy 2	Pathogenic (Dec 1, 2003)	no assertion criteria provided
Select item 1695334.	NM_001289808.2(CRYAB):c.358A>G (p.Arg120Gly) GRCh37: Chr11:111779658 GRCh38: Chr11:111908934	CRYAB	R120G, R53G	Myofibrillar myopathy 2	Pathogenic (Apr 7, 2006)	no assertion criteria provided

ClinVar

Result Filters

Clinical significance

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 34