1410[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	LOC130006930, LOC130006931 +1199 more	Copy number gain	See cases	GPathogenic
Select item 145533	GRCh38/hg38 11q23.1(chr11:111659380-112255732)x3	ALG9, BCO2 +45 more	Copy number gain	See cases	GUncertain significance
Select item 302428	NM_001289808.2(CRYAB):c.*107A>G	CRYAB	Single nucleotide variant (3 prime UTR variant)	Myofibrillar Myopathy, Dominant +2 more	GUncertain significance
Select item 877466	NM_001289808.2(CRYAB):c.*60G>A	CRYAB	Single nucleotide variant (3 prime UTR variant)	Fatal infantile hypertonic myofibrillar myopathy +2 more	GUncertain significance
Select item 302429	NM_001289808.2(CRYAB):c.*39T>C	CRYAB	Single nucleotide variant (3 prime UTR variant)	Myofibrillar Myopathy, Dominant +2 more	GUncertain significance
Select item 302430	NM_001289808.2(CRYAB):c.*38G>C	CRYAB	Single nucleotide variant (3 prime UTR variant)	Cataract 16 multiple types +2 more	GConflicting classifications of pathogenicity
Select item 385151	NM_001289808.2(CRYAB):c.*16T>C	CRYAB	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 642629	NC_000011.9:g.(?_111779478)_(111782458_?)dup	CRYAB	Duplication	Dilated cardiomyopathy 1II	GUncertain significance
Select item 1210799	NM_001289808.2(CRYAB):c.*3G>C	CRYAB	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1184448	NM_001289808.2(CRYAB):c.525del (p.Lys175fs)	CRYAB (K108fs +1 more)	Deletion (frameshift variant)	Cataract 16 multiple types	GLikely pathogenic
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 863037	NM_001289808.2(CRYAB):c.522G>T (p.Lys174Asn)	CRYAB (K107N +1 more)	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 1032782	NM_001289808.2(CRYAB):c.519del (p.Lys174fs)	CRYAB (K107fs +1 more)	Deletion (frameshift variant)	Myofibrillar myopathy 2	GUncertain significance
Select item 1142252	NM_001289808.2(CRYAB):c.516C>A (p.Ala172=)	CRYAB	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1II +1 more	GLikely benign
Select item 804222	NM_001289808.2(CRYAB):c.514del (p.Ala172fs)	CRYAB (A105fs +1 more)	Deletion (frameshift variant)	Myofibrillar myopathy 2	GPathogenic
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 381526	NM_001289808.2(CRYAB):c.511G>A (p.Ala171Thr)	CRYAB (A171T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 544024	NM_001289808.2(CRYAB):c.510C>A (p.Thr170=)	CRYAB	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 162998	NM_001289808.2(CRYAB):c.510C>T (p.Thr170=)	CRYAB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 2440569	NM_001289808.2(CRYAB):c.509C>A (p.Thr170Asn)	CRYAB (T103N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1745317	NM_001289808.2(CRYAB):c.509C>T (p.Thr170Ile)	CRYAB (T170I +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
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 1101698	NM_001289808.2(CRYAB):c.504T>C (p.Ala168=)	CRYAB	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1II +1 more	GLikely benign
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 1025875	NM_001289808.2(CRYAB):c.499C>G (p.Pro167Ala)	CRYAB (P100A +1 more)	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 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 3026280	NM_001289808.2(CRYAB):c.495G>C (p.Glu165Asp)	CRYAB (E165D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 956828	NM_001289808.2(CRYAB):c.488G>A (p.Arg163His)	CRYAB (R163H +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 44238	NM_001289808.2(CRYAB):c.487C>T (p.Arg163Cys)	CRYAB (R163C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	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 810752	NM_001289808.2(CRYAB):c.482T>C (p.Ile161Thr)	CRYAB (I161T +1 more)	Single nucleotide variant (missense variant)	Cataract 16 multiple types +4 more	GUncertain significance
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 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 2908273	NM_001289808.2(CRYAB):c.474C>A (p.Thr158=)	CRYAB	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1II	GLikely benign
Select item 1084099	NM_001289808.2(CRYAB):c.471C>T (p.Arg157=)	CRYAB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 511155	NM_001289808.2(CRYAB):c.471C>G (p.Arg157=)	CRYAB	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 41925	NM_001289808.2(CRYAB):c.470G>A (p.Arg157His)	CRYAB (R157H +1 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 2 +4 more	GUncertain significance
Select item 641068	NM_001289808.2(CRYAB):c.469C>T (p.Arg157Cys)	CRYAB (R90C +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II +1 more	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 1710339	NM_001289808.2(CRYAB):c.466del (p.Glu156fs)	CRYAB (E156fs +1 more)	Deletion (frameshift variant)	Developmental cataract	GPathogenic
Select item 16955	NM_001289808.2(CRYAB):c.464_465del (p.Pro155fs)	CRYAB (P88fs +1 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1II	GUncertain significance
Select item 477735	NM_001289808.2(CRYAB):c.461G>A (p.Gly154Asp)	CRYAB (G154D +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II	GUncertain significance
Select item 41926	NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser)	CRYAB (G154S +1 more)	Single nucleotide variant (missense variant)	CRYAB-related condition +10 more	GConflicting classifications of pathogenicity
Select item 619269	NM_001289808.2(CRYAB):c.458C>T (p.Ser153Phe)	CRYAB (S153F +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	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 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 16956	NM_001289808.2(CRYAB):c.451C>T (p.Gln151Ter)	CRYAB (Q151* +1 more)	Single nucleotide variant (nonsense)	Myofibrillar myopathy 2	GPathogenic
Select item 16954	NM_001289808.2(CRYAB):c.450del (p.Lys150fs)	CRYAB (K83fs +1 more)	Deletion (frameshift variant)	Cataract 16 multiple types	GPathogenic
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 2111836	NM_001289808.2(CRYAB):c.438T>C (p.Asn146=)	CRYAB	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1II	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 1007609	NM_001289808.2(CRYAB):c.433G>C (p.Val145Leu)	CRYAB (V145L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 2963871	NM_001289808.2(CRYAB):c.429C>T (p.Leu143=)	CRYAB	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1II	GLikely benign
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 915576	NM_001289808.2(CRYAB):c.427C>T (p.Leu143Phe)	CRYAB (L76F +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 945307	NM_001289808.2(CRYAB):c.424G>T (p.Val142Phe)	CRYAB (V142F +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II	GUncertain significance
Select item 1093387	NM_001289808.2(CRYAB):c.423G>C (p.Gly141=)	CRYAB	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1II	GLikely benign
Select item 41927	NM_001289808.2(CRYAB):c.418G>A (p.Asp140Asn)	CRYAB (D140N +1 more)	Single nucleotide variant (missense variant)	Cataract 16 multiple types	GPathogenic
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 745308	NM_001289808.2(CRYAB):c.408C>T (p.Ser136=)	CRYAB	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1II	GLikely benign
Select item 477734	NM_001289808.2(CRYAB):c.406T>A (p.Ser136Thr)	CRYAB (S136T +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II +2 more	GUncertain significance
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 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 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 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 2582003	NM_001289808.2(CRYAB):c.382G>A (p.Val128Ile)	CRYAB (V128I +1 more)	Single nucleotide variant (missense variant)	not provided	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 1502229	NM_001289808.2(CRYAB):c.376del (p.Ala126fs)	CRYAB (A59fs +1 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1II	GUncertain significance
Select item 302431	NM_001289808.2(CRYAB):c.375A>C (p.Pro125=)	CRYAB	Single nucleotide variant (synonymous variant)	Myofibrillar Myopathy, Dominant +3 more	GConflicting classifications of pathogenicity
Select item 1018839	NM_001289808.2(CRYAB):c.373C>G (p.Pro125Ala)	CRYAB (P125A +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II	GUncertain significance
Select item 945917	NM_001289808.2(CRYAB):c.373C>T (p.Pro125Ser)	CRYAB (P125S +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II +1 more	GUncertain significance
Select item 227275	NM_001289808.2(CRYAB):c.370A>G (p.Ile124Val)	CRYAB (I124V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 477733	NM_001289808.2(CRYAB):c.369G>T (p.Arg123=)	CRYAB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 228541	NM_001289808.2(CRYAB):c.368G>A (p.Arg123Gln)	CRYAB (R123Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 393088	NM_001289808.2(CRYAB):c.367C>T (p.Arg123Trp)	CRYAB (R123W +1 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 2 +4 more	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 956884	NM_001289808.2(CRYAB):c.362A>C (p.Lys121Thr)	CRYAB (K121T +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II	GUncertain significance
Select item 16953	NM_001289808.2(CRYAB):c.358A>G (p.Arg120Gly)	CRYAB (R120G +1 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 2	GPathogenic
Select item 228540	NM_001289808.2(CRYAB):c.353T>C (p.Phe118Ser)	CRYAB (F118S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 1731612	NM_001289808.2(CRYAB):c.345C>T (p.Ser115=)	CRYAB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GUncertain significance
Select item 38963	NM_001289808.2(CRYAB):c.343del (p.Ser115fs)	CRYAB (S48fs +1 more)	Deletion (frameshift variant)	Myofibrillar myopathy 2 +4 more	GPathogenic/Likely pathogenic
Select item 1106671	NM_001289808.2(CRYAB):c.333T>C (p.His111=)	CRYAB	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2582676	NM_001289808.2(CRYAB):c.327T>G (p.Asp109Glu)	CRYAB (D109E +1 more)	Single nucleotide variant (missense variant)	Fatal infantile hypertonic myofibrillar myopathy	GUncertain significance
Select item 265829	NM_001289808.2(CRYAB):c.326A>G (p.Asp109Gly)	CRYAB (D109G +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II	GLikely pathogenic
Select item 41930	NM_001289808.2(CRYAB):c.325G>C (p.Asp109His)	CRYAB (D109H +1 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 2	GPathogenic
Select item 44235	NM_001289808.2(CRYAB):c.325-2A>G	CRYAB	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype +3 more	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 1094078	NM_001289808.2(CRYAB):c.325-6G>T	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 1230791	NM_001289808.2(CRYAB):c.325-137G>A	CRYAB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675283	NM_001289808.2(CRYAB):c.325-170T>C	CRYAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672477	NM_001289808.2(CRYAB):c.324+214C>T	CRYAB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 419895	NM_001289808.2(CRYAB):c.324+13dup	CRYAB	Duplication (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 2196821	NM_001289808.2(CRYAB):c.324+19del	CRYAB	Deletion (intron variant)	Dilated cardiomyopathy 1II	GBenign
Select item 2152996	NM_001289808.2(CRYAB):c.324+19T>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

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