ClinVar for MedGen (Select 767563) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24281251.	NM_001289808.2(CRYAB):c.191G>A (p.Gly64Glu) GRCh37: Chr11:111782258 GRCh38: Chr11:111911534	CRYAB	G64E	Dilated cardiomyopathy 1II	Uncertain significance (Feb 27, 2022)	criteria provided, single submitter
Select item 24242972.	NC_000011.9:g.(?_111779488)_(111782448_?)del GRCh37: Chr11:111779488-111782448	CRYAB		Dilated cardiomyopathy 1II	Pathogenic (Dec 18, 2021)	criteria provided, single submitter
Select item 24218483.	NM_001289808.2(CRYAB):c.496A>T (p.Lys166Ter) GRCh37: Chr11:111779520 GRCh38: Chr11:111908796	CRYAB	K166, K99	Dilated cardiomyopathy 1II	Uncertain significance (Mar 21, 2022)	criteria provided, single submitter
Select item 21968214.	NM_001289808.2(CRYAB):c.324+19del GRCh37: Chr11:111781032 GRCh38: Chr11:111910308	CRYAB		Dilated cardiomyopathy 1II	Benign (May 12, 2022)	criteria provided, single submitter
Select item 21780005.	NM_001289808.2(CRYAB):c.60C>G (p.Pro20=) GRCh37: Chr11:111782389 GRCh38: Chr11:111911665	CRYAB		Dilated cardiomyopathy 1II	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 21649556.	NM_001289808.2(CRYAB):c.78G>C (p.Gln26His) GRCh37: Chr11:111782371 GRCh38: Chr11:111911647	CRYAB	Q26H	Dilated cardiomyopathy 1II	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 21529967.	NM_001289808.2(CRYAB):c.324+19T>G GRCh37: Chr11:111781032 GRCh38: Chr11:111910308	CRYAB		Dilated cardiomyopathy 1II	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 21500468.	NM_001289808.2(CRYAB):c.246_248del (p.Lys82_His83delinsAsn) GRCh37: Chr11:111781127-111781129 GRCh38: Chr11:111910403-111910405	CRYAB		Dilated cardiomyopathy 1II	Uncertain significance (May 2, 2022)	criteria provided, single submitter
Select item 21470909.	NM_001289808.2(CRYAB):c.395C>T (p.Thr132Ile) GRCh37: Chr11:111779621 GRCh38: Chr11:111908897	CRYAB	T132I, T65I	Dilated cardiomyopathy 1II	Uncertain significance (Jun 16, 2022)	criteria provided, single submitter
Select item 214594310.	NM_001289808.2(CRYAB):c.193C>A (p.Leu65Ile) GRCh37: Chr11:111782256 GRCh38: Chr11:111911532	CRYAB	L65I	Dilated cardiomyopathy 1II	Uncertain significance (Feb 27, 2022)	criteria provided, single submitter
Select item 214433411.	NM_001289808.2(CRYAB):c.324+5G>T GRCh37: Chr11:111781046 GRCh38: Chr11:111910322	CRYAB		Dilated cardiomyopathy 1II	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 214311112.	NM_001289808.2(CRYAB):c.451C>G (p.Gln151Glu) GRCh37: Chr11:111779565 GRCh38: Chr11:111908841	CRYAB	Q84E, Q151E	Dilated cardiomyopathy 1II	Uncertain significance (Apr 18, 2022)	criteria provided, single submitter
Select item 211183613.	NM_001289808.2(CRYAB):c.438T>C (p.Asn146=) GRCh37: Chr11:111779578 GRCh38: Chr11:111908854	CRYAB		Dilated cardiomyopathy 1II	Likely benign (Jul 17, 2022)	criteria provided, single submitter
Select item 209794814.	NM_001289808.2(CRYAB):c.386A>G (p.Asp129Gly) GRCh37: Chr11:111779630 GRCh38: Chr11:111908906	CRYAB	D62G, D129G	Dilated cardiomyopathy 1II	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 209505815.	NM_001289808.2(CRYAB):c.300G>A (p.Val100=) GRCh37: Chr11:111781075 GRCh38: Chr11:111910351	CRYAB		Dilated cardiomyopathy 1II	Likely benign (Feb 19, 2022)	criteria provided, single submitter
Select item 206221916.	NM_001289808.2(CRYAB):c.173C>T (p.Pro58Leu) GRCh37: Chr11:111782276 GRCh38: Chr11:111911552	CRYAB	P58L	Dilated cardiomyopathy 1II	Uncertain significance (Dec 27, 2021)	criteria provided, single submitter
Select item 205919017.	NM_001289808.2(CRYAB):c.465dup (p.Glu156Ter) GRCh37: Chr11:111779550-111779551 GRCh38: Chr11:111908826-111908827	CRYAB	E156, E89	Dilated cardiomyopathy 1II	Uncertain significance (Dec 24, 2021)	criteria provided, single submitter
Select item 204429018.	NM_001289808.2(CRYAB):c.117G>T (p.Pro39=) GRCh37: Chr11:111782332 GRCh38: Chr11:111911608	CRYAB		Dilated cardiomyopathy 1II	Likely benign (Jul 20, 2022)	criteria provided, single submitter
Select item 204090919.	NM_001289808.2(CRYAB):c.433G>A (p.Val145Met) GRCh37: Chr11:111779583 GRCh38: Chr11:111908859	CRYAB	V145M, V78M	Dilated cardiomyopathy 1II	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 202790220.	NM_001289808.2(CRYAB):c.202-8A>G GRCh37: Chr11:111781181 GRCh38: Chr11:111910457	CRYAB		Dilated cardiomyopathy 1II	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 202247321.	NM_001289808.2(CRYAB):c.499_505del (p.Pro167fs) GRCh37: Chr11:111779511-111779517 GRCh38: Chr11:111908787-111908793	CRYAB	P100fs, P167fs	Dilated cardiomyopathy 1II	Uncertain significance (Aug 7, 2022)	criteria provided, single submitter
Select item 201735022.	NM_001289808.2(CRYAB):c.325-5G>T GRCh37: Chr11:111779696 GRCh38: Chr11:111908972	CRYAB		Dilated cardiomyopathy 1II	Uncertain significance (Jul 18, 2022)	criteria provided, single submitter
Select item 199715823.	NM_001289808.2(CRYAB):c.88G>A (p.Glu30Lys) GRCh37: Chr11:111782361 GRCh38: Chr11:111911637	CRYAB	E30K	Dilated cardiomyopathy 1II	Uncertain significance (Jul 7, 2022)	criteria provided, single submitter
Select item 194681224.	NM_001289808.2(CRYAB):c.7A>G (p.Ile3Val) GRCh37: Chr11:111782442 GRCh38: Chr11:111911718	CRYAB	I3V	Dilated cardiomyopathy 1II	Uncertain significance (Aug 30, 2022)	criteria provided, single submitter
Select item 193173225.	NM_001289808.2(CRYAB):c.519C>T (p.Pro173=) GRCh37: Chr11:111779497 GRCh38: Chr11:111908773	CRYAB		Dilated cardiomyopathy 1II	Likely benign (Mar 13, 2022)	criteria provided, single submitter
Select item 192252726.	NM_001289808.2(CRYAB):c.511G>T (p.Ala171Ser) GRCh37: Chr11:111779505 GRCh38: Chr11:111908781	CRYAB	A104S, A171S	Dilated cardiomyopathy 1II	Uncertain significance (Dec 23, 2021)	criteria provided, single submitter
Select item 189774127.	NM_001289808.2(CRYAB):c.414A>G (p.Ser138=) GRCh37: Chr11:111779602 GRCh38: Chr11:111908878	CRYAB		Dilated cardiomyopathy 1II	Likely benign (Oct 9, 2022)	criteria provided, single submitter
Select item 178338928.	NM_001289808.2(CRYAB):c.195C>T (p.Leu65=) GRCh37: Chr11:111782254 GRCh38: Chr11:111911530	CRYAB		Cardiovascular phenotype, Dilated cardiomyopathy 1II	Likely benign (Mar 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167781129.	NM_001289808.2(CRYAB):c.2T>C (p.Met1Thr) GRCh37: Chr11:111782447 GRCh38: Chr11:111911723	CRYAB	M1T	Dilated cardiomyopathy 1II, not provided	Conflicting interpretations of pathogenicity (Jun 13, 2022)	criteria provided, conflicting interpretations
Select item 167420730.	NM_001289808.2(CRYAB):c.267C>T (p.Leu89=) GRCh37: Chr11:111781108 GRCh38: Chr11:111910384	CRYAB		Dilated cardiomyopathy 1II	Likely benign (Oct 25, 2021)	criteria provided, single submitter
Select item 166938631.	NM_001289808.2(CRYAB):c.201+10C>G GRCh37: Chr11:111782238 GRCh38: Chr11:111911514	CRYAB		Dilated cardiomyopathy 1II	Likely benign (Sep 4, 2021)	criteria provided, single submitter
Select item 166795732.	NM_001289808.2(CRYAB):c.324+13T>G GRCh37: Chr11:111781038 GRCh38: Chr11:111910314	CRYAB		Dilated cardiomyopathy 1II	Likely benign (May 5, 2021)	criteria provided, single submitter
Select item 162998733.	NM_001289808.2(CRYAB):c.325-9T>C GRCh37: Chr11:111779700 GRCh38: Chr11:111908976	CRYAB		Dilated cardiomyopathy 1II	Likely benign (Apr 20, 2021)	criteria provided, single submitter
Select item 162538334.	NM_001289808.2(CRYAB):c.220A>C (p.Arg74=) GRCh37: Chr11:111781155 GRCh38: Chr11:111910431	CRYAB		Dilated cardiomyopathy 1II	Likely benign (May 30, 2022)	criteria provided, single submitter
Select item 161435835.	NM_001289808.2(CRYAB):c.324+11T>C GRCh37: Chr11:111781040 GRCh38: Chr11:111910316	CRYAB		Dilated cardiomyopathy 1II	Likely benign (Oct 31, 2021)	criteria provided, single submitter
Select item 161010636.	NM_001289808.2(CRYAB):c.480C>T (p.Pro160=) GRCh37: Chr11:111779536 GRCh38: Chr11:111908812	CRYAB		Dilated cardiomyopathy 1II	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 158892837.	NM_001289808.2(CRYAB):c.202-16A>G GRCh37: Chr11:111781189 GRCh38: Chr11:111910465	CRYAB		Dilated cardiomyopathy 1II	Benign (Aug 12, 2022)	criteria provided, single submitter
Select item 157803338.	NM_001289808.2(CRYAB):c.66C>T (p.Arg22=) GRCh37: Chr11:111782383 GRCh38: Chr11:111911659	CRYAB		Dilated cardiomyopathy 1II	Likely benign (Aug 14, 2021)	criteria provided, single submitter
Select item 155427339.	NM_001289808.2(CRYAB):c.135T>C (p.Ser45=) GRCh37: Chr11:111782314 GRCh38: Chr11:111911590	CRYAB		Dilated cardiomyopathy 1II, Cardiovascular phenotype	Likely benign (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 154716140.	NM_001289808.2(CRYAB):c.96G>A (p.Leu32=) GRCh37: Chr11:111782353 GRCh38: Chr11:111911629	CRYAB		Dilated cardiomyopathy 1II	Likely benign (Jan 3, 2022)	criteria provided, single submitter
Select item 154545141.	NM_001289808.2(CRYAB):c.201+17C>T GRCh37: Chr11:111782231 GRCh38: Chr11:111911507	CRYAB		Dilated cardiomyopathy 1II	Likely benign (Mar 15, 2022)	criteria provided, single submitter
Select item 154416042.	NM_001289808.2(CRYAB):c.130C>T (p.Leu44=) GRCh37: Chr11:111782319 GRCh38: Chr11:111911595	CRYAB		Dilated cardiomyopathy 1II	Likely benign (May 16, 2021)	criteria provided, single submitter
Select item 152340143.	NM_001289808.2(CRYAB):c.401C>T (p.Thr134Ile) GRCh37: Chr11:111779615 GRCh38: Chr11:111908891	CRYAB	T134I, T67I	Dilated cardiomyopathy 1II	Uncertain significance (Oct 7, 2021)	criteria provided, single submitter
Select item 151552644.	NM_001289808.2(CRYAB):c.20A>G (p.His7Arg) GRCh37: Chr11:111782429 GRCh38: Chr11:111911705	CRYAB	H7R	Dilated cardiomyopathy 1II	Uncertain significance (Oct 20, 2022)	criteria provided, single submitter
Select item 150771645.	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 150681246.	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 150331447.	NM_001289808.2(CRYAB):c.457T>G (p.Ser153Ala) GRCh37: Chr11:111779559 GRCh38: Chr11:111908835	CRYAB	S153A, S86A	Dilated cardiomyopathy 1II	Uncertain significance (Oct 5, 2021)	criteria provided, single submitter
Select item 150222948.	NM_001289808.2(CRYAB):c.376del (p.Ala126fs) GRCh37: Chr11:111779640 GRCh38: Chr11:111908916	CRYAB	A59fs, A126fs	Dilated cardiomyopathy 1II	Uncertain significance (Jul 13, 2021)	criteria provided, single submitter
Select item 148665149.	NM_001289808.2(CRYAB):c.148C>T (p.Arg50Trp) GRCh37: Chr11:111782301 GRCh38: Chr11:111911577	CRYAB	R50W	Dilated cardiomyopathy 1II, not provided, Cataract 16 multiple types	Uncertain significance (Apr 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 148664050.	NM_001289808.2(CRYAB):c.56C>T (p.Ser19Phe) GRCh37: Chr11:111782393 GRCh38: Chr11:111911669	CRYAB	S19F	Dilated cardiomyopathy 1II	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 145552251.	NC_000011.9:g.(?_111779488)_(111780026_?)del GRCh37: Chr11:111779488-111780026	CRYAB		Dilated cardiomyopathy 1II	Pathogenic (Aug 22, 2022)	criteria provided, single submitter
Select item 143363152.	NM_001289808.2(CRYAB):c.17A>T (p.His6Leu) GRCh37: Chr11:111782432 GRCh38: Chr11:111911708	CRYAB	H6L	Inborn genetic diseases, Dilated cardiomyopathy 1II	Uncertain significance (Dec 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142392953.	NM_001289808.2(CRYAB):c.381T>G (p.Asp127Glu) GRCh37: Chr11:111779635 GRCh38: Chr11:111908911	CRYAB	D127E, D60E	Dilated cardiomyopathy 1II	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 141881054.	NM_001289808.2(CRYAB):c.38C>T (p.Pro13Leu) GRCh37: Chr11:111782411 GRCh38: Chr11:111911687	CRYAB	P13L	Dilated cardiomyopathy 1II	Uncertain significance (Sep 29, 2021)	criteria provided, single submitter
Select item 141768255.	NM_001289808.2(CRYAB):c.524A>T (p.Lys175Ile) GRCh37: Chr11:111779492 GRCh38: Chr11:111908768	CRYAB	K108I, K175I	Dilated cardiomyopathy 1II	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 141052456.	NC_000011.9:g.(?_111779478)_(111961866_?)dup GRCh37: Chr11:111779478-111961866	NKAPD1, HSPB2, C11orf52, DLAT, TIMM8B, CRYAB, DIXDC1, SDHD, PIH1D2		Dilated cardiomyopathy 1II	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 141049957.	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 140661758.	NM_001289808.2(CRYAB):c.427C>G (p.Leu143Val) GRCh37: Chr11:111779589 GRCh38: Chr11:111908865	CRYAB	L76V, L143V	Dilated cardiomyopathy 1II	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 140600859.	NM_001289808.2(CRYAB):c.397A>G (p.Ile133Val) GRCh37: Chr11:111779619 GRCh38: Chr11:111908895	CRYAB	I133V, I66V	Dilated cardiomyopathy 1II	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 140130460.	NM_001289808.2(CRYAB):c.324+3_324+4delinsGG GRCh37: Chr11:111781047-111781048 GRCh38: Chr11:111910323-111910324	CRYAB		Dilated cardiomyopathy 1II	Uncertain significance (May 5, 2021)	criteria provided, single submitter
Select item 139976061.	NM_001289808.2(CRYAB):c.485C>T (p.Thr162Ile) GRCh37: Chr11:111779531 GRCh38: Chr11:111908807	CRYAB	T162I, T95I	Cardiovascular phenotype, Dilated cardiomyopathy 1II	Uncertain significance (Oct 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 139246062.	NM_001289808.2(CRYAB):c.145del (p.Leu49fs) GRCh37: Chr11:111782304 GRCh38: Chr11:111911580	CRYAB	L49fs	Dilated cardiomyopathy 1II	Pathogenic (Nov 9, 2021)	criteria provided, single submitter
Select item 139043963.	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 138884364.	NM_001289808.2(CRYAB):c.85G>A (p.Gly29Arg) GRCh37: Chr11:111782364 GRCh38: Chr11:111911640	CRYAB	G29R	Dilated cardiomyopathy 1II, not provided, Cardiovascular phenotype	Uncertain significance (Jun 14, 2023)	criteria provided, multiple submitters, no conflicts
Select item 138675465.	NM_001289808.2(CRYAB):c.187A>G (p.Thr63Ala) GRCh37: Chr11:111782262 GRCh38: Chr11:111911538	CRYAB	T63A	Cardiovascular phenotype, Dilated cardiomyopathy 1II	Uncertain significance (Aug 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138281866.	NM_001289808.2(CRYAB):c.324+4_324+5delinsGA GRCh37: Chr11:111781046-111781047 GRCh38: Chr11:111910322-111910323	CRYAB		Dilated cardiomyopathy 1II	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 137823067.	NM_001289808.2(CRYAB):c.202-9_214dup GRCh37: Chr11:111781160-111781161 GRCh38: Chr11:111910436-111910437	CRYAB	K5fs	Dilated cardiomyopathy 1II	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 137270068.	NM_001289808.2(CRYAB):c.476T>A (p.Ile159Asn) GRCh37: Chr11:111779540 GRCh38: Chr11:111908816	CRYAB	I159N, I92N	not provided, Dilated cardiomyopathy 1II	Uncertain significance (Jun 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132216369.	NM_001289808.2(CRYAB):c.76C>T (p.Gln26Ter) GRCh37: Chr11:111782373 GRCh38: Chr11:111911649	CRYAB	Q26*	Dilated cardiomyopathy 1II	Pathogenic (May 5, 2022)	criteria provided, single submitter
Select item 117494470.	NM_001289808.2(CRYAB):c.201+17C>G GRCh37: Chr11:111782231 GRCh38: Chr11:111911507	CRYAB		Dilated cardiomyopathy 1II	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 115066471.	NM_001289808.2(CRYAB):c.84C>T (p.Phe28=) GRCh37: Chr11:111782365 GRCh38: Chr11:111911641	CRYAB		Cardiovascular phenotype, not provided, Dilated cardiomyopathy 1II	Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 114225272.	NM_001289808.2(CRYAB):c.516C>A (p.Ala172=) GRCh37: Chr11:111779500 GRCh38: Chr11:111908776	CRYAB		Cardiovascular phenotype, Dilated cardiomyopathy 1II	Likely benign (Apr 16, 2023)	criteria provided, multiple submitters, no conflicts
Select item 111560973.	NM_001289808.2(CRYAB):c.166C>A (p.Arg56=) GRCh37: Chr11:111782283 GRCh38: Chr11:111911559	CRYAB		Dilated cardiomyopathy 1II	Likely benign (Feb 4, 2020)	criteria provided, single submitter
Select item 111248574.	NM_001289808.2(CRYAB):c.198A>G (p.Ser66=) GRCh37: Chr11:111782251 GRCh38: Chr11:111911527	CRYAB		Dilated cardiomyopathy 1II	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 110667175.	NM_001289808.2(CRYAB):c.333T>C (p.His111=) GRCh37: Chr11:111779683 GRCh38: Chr11:111908959	CRYAB		Dilated cardiomyopathy 1II, not provided, Cardiovascular phenotype	Likely benign (Jan 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 110169876.	NM_001289808.2(CRYAB):c.504T>C (p.Ala168=) GRCh37: Chr11:111779512 GRCh38: Chr11:111908788	CRYAB		Cardiovascular phenotype, Dilated cardiomyopathy 1II	Likely benign (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 109407877.	NM_001289808.2(CRYAB):c.325-6G>T GRCh37: Chr11:111779697 GRCh38: Chr11:111908973	CRYAB		Dilated cardiomyopathy 1II	Likely benign (Jul 21, 2022)	criteria provided, single submitter
Select item 109338778.	NM_001289808.2(CRYAB):c.423G>C (p.Gly141=) GRCh37: Chr11:111779593 GRCh38: Chr11:111908869	CRYAB		Dilated cardiomyopathy 1II	Likely benign (Sep 16, 2019)	criteria provided, single submitter
Select item 108409979.	NM_001289808.2(CRYAB):c.471C>T (p.Arg157=) GRCh37: Chr11:111779545 GRCh38: Chr11:111908821	CRYAB		Cardiovascular phenotype, Dilated cardiomyopathy 1II	Likely benign (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107496180.	NM_001289808.2(CRYAB):c.295G>T (p.Glu99Ter) GRCh37: Chr11:111781080 GRCh38: Chr11:111910356	CRYAB	E32, E99	Cardiovascular phenotype, Dilated cardiomyopathy 1II	Conflicting interpretations of pathogenicity (Aug 28, 2021)	criteria provided, conflicting interpretations
Select item 107002081.	NC_000011.9:g.(?_111779478)_(111782458_?)del GRCh37: Chr11:111779478-111782458	CRYAB		Dilated cardiomyopathy 1II	Pathogenic (Oct 8, 2020)	criteria provided, single submitter
Select item 106948482.	NM_001289808.2(CRYAB):c.34C>T (p.Arg12Cys) GRCh37: Chr11:111782415 GRCh38: Chr11:111911691	CRYAB	R12C	not provided, Dilated cardiomyopathy 1II	Conflicting interpretations of pathogenicity (Mar 12, 2022)	criteria provided, conflicting interpretations
Select item 105158883.	NM_001289808.2(CRYAB):c.127T>G (p.Ser43Ala) GRCh37: Chr11:111782322 GRCh38: Chr11:111911598	CRYAB	S43A	Dilated cardiomyopathy 1II	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 104475984.	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 102587585.	NM_001289808.2(CRYAB):c.499C>G (p.Pro167Ala) GRCh37: Chr11:111779517 GRCh38: Chr11:111908793	CRYAB	P100A, P167A	Dilated cardiomyopathy 1II	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 102573286.	NM_001289808.2(CRYAB):c.205C>A (p.Arg69Ser) GRCh37: Chr11:111781170 GRCh38: Chr11:111910446	CRYAB	R2S, R69S	Dilated cardiomyopathy 1II	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 102082587.	NM_001289808.2(CRYAB):c.21C>G (p.His7Gln) GRCh37: Chr11:111782428 GRCh38: Chr11:111911704	CRYAB	H7Q	Dilated cardiomyopathy 1II	Uncertain significance (May 16, 2022)	criteria provided, single submitter
Select item 101902088.	NM_001289808.2(CRYAB):c.104C>T (p.Ser35Phe) GRCh37: Chr11:111782345 GRCh38: Chr11:111911621	CRYAB	S35F	Dilated cardiomyopathy 1II	Uncertain significance (Feb 3, 2022)	criteria provided, single submitter
Select item 101883989.	NM_001289808.2(CRYAB):c.373C>G (p.Pro125Ala) GRCh37: Chr11:111779643 GRCh38: Chr11:111908919	CRYAB	P125A, P58A	Dilated cardiomyopathy 1II	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 101422290.	NM_001289808.2(CRYAB):c.202A>T (p.Met68Leu) GRCh37: Chr11:111781173 GRCh38: Chr11:111910449	CRYAB	M1L, M68L	not provided, Dilated cardiomyopathy 1II	Uncertain significance (Aug 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 100760991.	NM_001289808.2(CRYAB):c.433G>C (p.Val145Leu) GRCh37: Chr11:111779583 GRCh38: Chr11:111908859	CRYAB	V145L, V78L	Inborn genetic diseases, Dilated cardiomyopathy 1II	Uncertain significance (Dec 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 100732592.	NM_001289808.2(CRYAB):c.302A>T (p.His101Leu) GRCh37: Chr11:111781073 GRCh38: Chr11:111910349	CRYAB	H101L, H34L	Dilated cardiomyopathy 1II	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 99931593.	NM_001289808.2(CRYAB):c.277G>C (p.Val93Leu) GRCh37: Chr11:111781098 GRCh38: Chr11:111910374	CRYAB	V26L, V93L	Dilated cardiomyopathy 1II	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 99904694.	NM_001289808.2(CRYAB):c.35G>A (p.Arg12His) GRCh37: Chr11:111782414 GRCh38: Chr11:111911690	CRYAB	R12H	Dilated cardiomyopathy 1II	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 96434895.	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 96274696.	NM_001289808.2(CRYAB):c.131T>C (p.Leu44Pro) GRCh37: Chr11:111782318 GRCh38: Chr11:111911594	CRYAB	L44P	Dilated cardiomyopathy 1II	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 95688497.	NM_001289808.2(CRYAB):c.362A>C (p.Lys121Thr) GRCh37: Chr11:111779654 GRCh38: Chr11:111908930	CRYAB	K121T, K54T	Dilated cardiomyopathy 1II	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 95682898.	NM_001289808.2(CRYAB):c.488G>A (p.Arg163His) GRCh37: Chr11:111779528 GRCh38: Chr11:111908804	CRYAB	R163H, R96H	Dilated cardiomyopathy 1II, Cardiovascular phenotype, not provided	Uncertain significance (Mar 31, 2023)	criteria provided, multiple submitters, no conflicts
Select item 95392299.	NM_001289808.2(CRYAB):c.201G>A (p.Glu67=) GRCh37: Chr11:111782248 GRCh38: Chr11:111911524	CRYAB		Dilated cardiomyopathy 1II	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 950862100.	NM_001289808.2(CRYAB):c.86G>C (p.Gly29Ala) GRCh37: Chr11:111782363 GRCh38: Chr11:111911639	CRYAB	G29A	Dilated cardiomyopathy 1II	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter

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