ClinVar for MedGen (Select 767563) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2989178	NM_001289808.2(CRYAB):c.268A>G (p.Lys90Glu)	CRYAB (K90E +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II	GUncertain significance
Select item 2986838	NM_001289808.2(CRYAB):c.440G>T (p.Gly147Val)	CRYAB (G80V +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II	GUncertain significance
Select item 2963871	NM_001289808.2(CRYAB):c.429C>T (p.Leu143=)	CRYAB	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1II	GLikely benign
Select item 2912845	NM_001289808.2(CRYAB):c.432T>G (p.Thr144=)	CRYAB	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1II	GLikely benign
Select item 2912143	NM_001289808.2(CRYAB):c.269A>G (p.Lys90Arg)	CRYAB (K90R +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II	GUncertain significance
Select item 2911125	NM_001289808.2(CRYAB):c.153A>G (p.Pro51=)	CRYAB	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1II	GLikely benign
Select item 2908273	NM_001289808.2(CRYAB):c.474C>A (p.Thr158=)	CRYAB	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1II	GLikely benign
Select item 2906265	NM_001289808.2(CRYAB):c.352T>G (p.Phe118Val)	CRYAB (F118V +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II	GUncertain significance
Select item 2892479	NM_001289808.2(CRYAB):c.222G>C (p.Arg74Ser)	CRYAB (R7S +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II	GUncertain significance
Select item 2890471	NM_001289808.2(CRYAB):c.64C>T (p.Arg22Cys)	CRYAB (R22C)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II	GUncertain significance
Select item 2890149	NM_001289808.2(CRYAB):c.201+5G>A	CRYAB	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1II	GUncertain significance
Select item 2885618	NM_001289808.2(CRYAB):c.12C>T (p.Ala4=)	CRYAB	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1II	GLikely benign
Select item 2865559	NM_001289808.2(CRYAB):c.173C>A (p.Pro58His)	CRYAB (P58H)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II	GUncertain significance
Select item 2848762	NM_001289808.2(CRYAB):c.215A>T (p.Lys72Met)	CRYAB (K72M +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II	GUncertain significance
Select item 2847449	NM_001289808.2(CRYAB):c.282G>A (p.Leu94=)	CRYAB	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1II	GLikely benign
Select item 2847410	NM_001289808.2(CRYAB):c.201+13A>C	CRYAB	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1II	GLikely benign
Select item 2823861	NM_001289808.2(CRYAB):c.280T>C (p.Leu94=)	CRYAB	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1II	GLikely benign
Select item 2823772	NM_001289808.2(CRYAB):c.56C>A (p.Ser19Tyr)	CRYAB (S19Y)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II	GUncertain significance
Select item 2819081	NM_001289808.2(CRYAB):c.498G>A (p.Lys166=)	CRYAB	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1II	GLikely benign
Select item 2815841	NM_001289808.2(CRYAB):c.79TTC[1] (p.Phe28del)	CRYAB (F28del)	Microsatellite (inframe_deletion)	Dilated cardiomyopathy 1II	GUncertain significance
Select item 2811639	NM_001289808.2(CRYAB):c.201+2_201+3dup	CRYAB	Duplication (splice donor variant)	Dilated cardiomyopathy 1II	GUncertain significance
Select item 2810621	NM_001289808.2(CRYAB):c.201+11C>A	CRYAB	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1II	GLikely benign
Select item 2760438	NM_001289808.2(CRYAB):c.171A>C (p.Ala57=)	CRYAB	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1II	GLikely benign
Select item 2750025	NM_001289808.2(CRYAB):c.279G>A (p.Val93=)	CRYAB	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1II	GLikely benign
Select item 2745542	NM_001289808.2(CRYAB):c.324+10T>C	CRYAB	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1II	GLikely benign
Select item 2740863	NM_001289808.2(CRYAB):c.149_163del (p.Arg50_Phe54del)	CRYAB	Deletion (inframe_deletion)	Dilated cardiomyopathy 1II	GUncertain significance
Select item 2727405	NM_001289808.2(CRYAB):c.320G>A (p.Arg107His)	CRYAB (R107H +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II	GUncertain significance
Select item 2698125	NM_001289808.2(CRYAB):c.290T>A (p.Val97Glu)	CRYAB (V30E +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II	GUncertain significance
Select item 2688871	NM_001289808.2(CRYAB):c.35G>T (p.Arg12Leu)	CRYAB (R12L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2428125	NM_001289808.2(CRYAB):c.191G>A (p.Gly64Glu)	CRYAB (G64E)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II	GUncertain significance
Select item 2424297	NC_000011.9:g.(?_111779488)_(111782448_?)del	CRYAB	Deletion	Dilated cardiomyopathy 1II	GPathogenic
Select item 2421848	NM_001289808.2(CRYAB):c.496A>T (p.Lys166Ter)	CRYAB (K166* +1 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1II	GUncertain significance
Select item 2196821	NM_001289808.2(CRYAB):c.324+19del	CRYAB	Deletion (intron variant)	Dilated cardiomyopathy 1II	GBenign
Select item 2178000	NM_001289808.2(CRYAB):c.60C>G (p.Pro20=)	CRYAB	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1II	GLikely benign
Select item 2164955	NM_001289808.2(CRYAB):c.78G>C (p.Gln26His)	CRYAB (Q26H)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II	GUncertain significance
Select item 2152996	NM_001289808.2(CRYAB):c.324+19T>G	CRYAB	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1II	GLikely benign
Select item 2150046	NM_001289808.2(CRYAB):c.246_248del (p.Lys82_His83delinsAsn)	CRYAB	Deletion (inframe_indel)	Dilated cardiomyopathy 1II	GUncertain significance
Select item 2147090	NM_001289808.2(CRYAB):c.395C>T (p.Thr132Ile)	CRYAB (T132I +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II	GUncertain significance
Select item 2145943	NM_001289808.2(CRYAB):c.193C>A (p.Leu65Ile)	CRYAB (L65I)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II	GUncertain significance
Select item 2144334	NM_001289808.2(CRYAB):c.324+5G>T	CRYAB	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1II	GUncertain significance
Select item 2143111	NM_001289808.2(CRYAB):c.451C>G (p.Gln151Glu)	CRYAB (Q84E +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II	GUncertain significance
Select item 2111836	NM_001289808.2(CRYAB):c.438T>C (p.Asn146=)	CRYAB	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1II	GLikely benign
Select item 2097948	NM_001289808.2(CRYAB):c.386A>G (p.Asp129Gly)	CRYAB (D62G +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II	GUncertain significance
Select item 2095058	NM_001289808.2(CRYAB):c.300G>A (p.Val100=)	CRYAB	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1II	GLikely benign
Select item 2062219	NM_001289808.2(CRYAB):c.173C>T (p.Pro58Leu)	CRYAB (P58L)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II	GUncertain significance
Select item 2059190	NM_001289808.2(CRYAB):c.465dup (p.Glu156Ter)	CRYAB (E156* +1 more)	Duplication (nonsense)	Dilated cardiomyopathy 1II	GUncertain significance
Select item 2044290	NM_001289808.2(CRYAB):c.117G>T (p.Pro39=)	CRYAB	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2040909	NM_001289808.2(CRYAB):c.433G>A (p.Val145Met)	CRYAB (V145M +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II	GUncertain significance
Select item 2027902	NM_001289808.2(CRYAB):c.202-8A>G	CRYAB	Single nucleotide variant (5 prime UTR variant +1 more)	Dilated cardiomyopathy 1II	GLikely benign
Select item 2022473	NM_001289808.2(CRYAB):c.499_505del (p.Pro167fs)	CRYAB (P100fs +1 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1II	GUncertain significance
Select item 2017350	NM_001289808.2(CRYAB):c.325-5G>T	CRYAB	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1II	GUncertain significance
Select item 1997158	NM_001289808.2(CRYAB):c.88G>A (p.Glu30Lys)	CRYAB (E30K)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II	GUncertain significance
Select item 1946812	NM_001289808.2(CRYAB):c.7A>G (p.Ile3Val)	CRYAB (I3V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II	GUncertain significance
Select item 1931732	NM_001289808.2(CRYAB):c.519C>T (p.Pro173=)	CRYAB	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1II	GLikely benign
Select item 1922527	NM_001289808.2(CRYAB):c.511G>T (p.Ala171Ser)	CRYAB (A104S +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II	GUncertain significance
Select item 1897741	NM_001289808.2(CRYAB):c.414A>G (p.Ser138=)	CRYAB	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1II	GLikely benign
Select item 1783389	NM_001289808.2(CRYAB):c.195C>T (p.Leu65=)	CRYAB	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1II +1 more	GLikely benign
Select item 1749738	NM_001289808.2(CRYAB):c.57C>G (p.Ser19=)	CRYAB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1677811	NM_001289808.2(CRYAB):c.2T>C (p.Met1Thr)	CRYAB (M1T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1674207	NM_001289808.2(CRYAB):c.267C>T (p.Leu89=)	CRYAB	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1II	GLikely benign
Select item 1669386	NM_001289808.2(CRYAB):c.201+10C>G	CRYAB	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1II	GLikely benign
Select item 1667957	NM_001289808.2(CRYAB):c.324+13T>G	CRYAB	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1II	GLikely benign
Select item 1629987	NM_001289808.2(CRYAB):c.325-9T>C	CRYAB	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1II	GLikely benign
Select item 1625383	NM_001289808.2(CRYAB):c.220A>C (p.Arg74=)	CRYAB	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1II	GLikely benign
Select item 1614358	NM_001289808.2(CRYAB):c.324+11T>C	CRYAB	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1II	GLikely benign
Select item 1610106	NM_001289808.2(CRYAB):c.480C>T (p.Pro160=)	CRYAB	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1II	GLikely benign
Select item 1588928	NM_001289808.2(CRYAB):c.202-16A>G	CRYAB	Single nucleotide variant (5 prime UTR variant +1 more)	Dilated cardiomyopathy 1II	GBenign
Select item 1578033	NM_001289808.2(CRYAB):c.66C>T (p.Arg22=)	CRYAB	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1II	GLikely benign
Select item 1554273	NM_001289808.2(CRYAB):c.135T>C (p.Ser45=)	CRYAB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1547161	NM_001289808.2(CRYAB):c.96G>A (p.Leu32=)	CRYAB	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1II	GLikely benign
Select item 1545451	NM_001289808.2(CRYAB):c.201+17C>T	CRYAB	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1II	GLikely benign
Select item 1544160	NM_001289808.2(CRYAB):c.130C>T (p.Leu44=)	CRYAB	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1II	GLikely benign
Select item 1523401	NM_001289808.2(CRYAB):c.401C>T (p.Thr134Ile)	CRYAB (T134I +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II	GUncertain significance
Select item 1515526	NM_001289808.2(CRYAB):c.20A>G (p.His7Arg)	CRYAB (H7R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II	GUncertain significance
Select item 1507716	NM_001289808.2(CRYAB):c.362A>G (p.Lys121Arg)	CRYAB (K54R +1 more)	Single nucleotide variant (missense variant)	Fatal infantile hypertonic myofibrillar myopathy +3 more	GUncertain significance
Select item 1506812	NM_001289808.2(CRYAB):c.503C>G (p.Ala168Gly)	CRYAB (A101G +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II +1 more	GUncertain significance
Select item 1503314	NM_001289808.2(CRYAB):c.457T>G (p.Ser153Ala)	CRYAB (S153A +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II	GUncertain significance
Select item 1502229	NM_001289808.2(CRYAB):c.376del (p.Ala126fs)	CRYAB (A59fs +1 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1II	GUncertain significance
Select item 1486651	NM_001289808.2(CRYAB):c.148C>T (p.Arg50Trp)	CRYAB (R50W)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II +2 more	GUncertain significance
Select item 1486640	NM_001289808.2(CRYAB):c.56C>T (p.Ser19Phe)	CRYAB (S19F)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II	GUncertain significance
Select item 1455522	NC_000011.9:g.(?_111779488)_(111780026_?)del	CRYAB	Deletion	Dilated cardiomyopathy 1II	GPathogenic
Select item 1433631	NM_001289808.2(CRYAB):c.17A>T (p.His6Leu)	CRYAB (H6L)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II +1 more	GUncertain significance
Select item 1423929	NM_001289808.2(CRYAB):c.381T>G (p.Asp127Glu)	CRYAB (D127E +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II	GUncertain significance
Select item 1418810	NM_001289808.2(CRYAB):c.38C>T (p.Pro13Leu)	CRYAB (P13L)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II	GUncertain significance
Select item 1417682	NM_001289808.2(CRYAB):c.524A>T (p.Lys175Ile)	CRYAB (K108I +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II	GUncertain significance
Select item 1410524	NC_000011.9:g.(?_111779478)_(111961866_?)dup	C11orf52, CRYAB +7 more	Duplication	Dilated cardiomyopathy 1II	GUncertain significance
Select item 1410499	NM_001289808.2(CRYAB):c.319C>T (p.Arg107Cys)	CRYAB (R107C +1 more)	Single nucleotide variant (missense variant)	Fatal infantile hypertonic myofibrillar myopathy +4 more	GUncertain significance
Select item 1406617	NM_001289808.2(CRYAB):c.427C>G (p.Leu143Val)	CRYAB (L76V +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II	GUncertain significance
Select item 1406008	NM_001289808.2(CRYAB):c.397A>G (p.Ile133Val)	CRYAB (I133V +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II	GUncertain significance
Select item 1401304	NM_001289808.2(CRYAB):c.324+3_324+4delinsGG	CRYAB	Indel (intron variant)	Dilated cardiomyopathy 1II	GUncertain significance
Select item 1399760	NM_001289808.2(CRYAB):c.485C>T (p.Thr162Ile)	CRYAB (T162I +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II +1 more	GUncertain significance
Select item 1392460	NM_001289808.2(CRYAB):c.145del (p.Leu49fs)	CRYAB (L49fs)	Deletion (frameshift variant)	Dilated cardiomyopathy 1II	GPathogenic
Select item 1390439	NM_001289808.2(CRYAB):c.41T>C (p.Phe14Ser)	CRYAB (F14S)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II +1 more	GUncertain significance
Select item 1388843	NM_001289808.2(CRYAB):c.85G>A (p.Gly29Arg)	CRYAB (G29R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II +2 more	GUncertain significance
Select item 1386754	NM_001289808.2(CRYAB):c.187A>G (p.Thr63Ala)	CRYAB (T63A)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II +1 more	GUncertain significance
Select item 1382818	NM_001289808.2(CRYAB):c.324+4_324+5delinsGA	CRYAB	Indel (intron variant)	Dilated cardiomyopathy 1II	GUncertain significance
Select item 1378230	NM_001289808.2(CRYAB):c.202-9_214dup	CRYAB (K5fs)	Duplication (splice acceptor variant +2 more)	Dilated cardiomyopathy 1II	GUncertain significance
Select item 1372700	NM_001289808.2(CRYAB):c.476T>A (p.Ile159Asn)	CRYAB (I159N +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II +1 more	GUncertain significance
Select item 1322163	NM_001289808.2(CRYAB):c.76C>T (p.Gln26Ter)	CRYAB (Q26*)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1II	GPathogenic
Select item 1174944	NM_001289808.2(CRYAB):c.201+17C>G	CRYAB	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1II	GLikely benign

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