"Ambry Genetics"[submitter] AND "CRYAB"[gene] - ClinVar

Search results

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1142252	NM_001289808.2(CRYAB):c.516C>A (p.Ala172=)	CRYAB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 381526	NM_001289808.2(CRYAB):c.511G>A (p.Ala171Thr)	CRYAB (A171T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +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)	Dilated cardiomyopathy 1II +2 more	GLikely benign
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 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 3269645	NM_001289808.2(CRYAB):c.495G>A (p.Glu165=)	CRYAB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 956828	NM_001289808.2(CRYAB):c.488G>A (p.Arg163His)	CRYAB (R163H +1 more)	Single nucleotide variant (missense variant)	not provided +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)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1399760	NM_001289808.2(CRYAB):c.485C>T (p.Thr162Ile)	CRYAB (T162I +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1084099	NM_001289808.2(CRYAB):c.471C>T (p.Arg157=)	CRYAB	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1II +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)	Dilated cardiomyopathy 1II +4 more	GUncertain significance
Select item 41926	NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser)	CRYAB (G154S +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II +9 more	GConflicting classifications of pathogenicity
Select item 2040909	NM_001289808.2(CRYAB):c.433G>A (p.Val145Met)	CRYAB (V145M +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1007609	NM_001289808.2(CRYAB):c.433G>C (p.Val145Leu)	CRYAB (V145L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2912845	NM_001289808.2(CRYAB):c.432T>G (p.Thr144=)	CRYAB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 3269648	NM_001289808.2(CRYAB):c.406T>C (p.Ser136Pro)	CRYAB (S136P +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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 477733	NM_001289808.2(CRYAB):c.369G>T (p.Arg123=)	CRYAB	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1II +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)	not specified +3 more	GUncertain significance
Select item 1507716	NM_001289808.2(CRYAB):c.362A>G (p.Lys121Arg)	CRYAB (K54R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 228540	NM_001289808.2(CRYAB):c.353T>C (p.Phe118Ser)	CRYAB (F118S +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	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)	Dilated cardiomyopathy 1II +5 more	GConflicting classifications of pathogenicity
Select item 1106671	NM_001289808.2(CRYAB):c.333T>C (p.His111=)	CRYAB	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1II +2 more	GLikely benign
Select item 44235	NM_001289808.2(CRYAB):c.325-2A>G	CRYAB	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GUncertain significance
Select item 1729294	NM_001289808.2(CRYAB):c.324+5G>A	CRYAB	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 449708	NM_001289808.2(CRYAB):c.324+4_324+5delinsGT	CRYAB	Indel (intron variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 411954	NM_001289808.2(CRYAB):c.324+4T>A	CRYAB	Single nucleotide variant (intron variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 44234	NM_001289808.2(CRYAB):c.324+4T>G	CRYAB	Single nucleotide variant (intron variant)	Myofibrillar Myopathy, Dominant +7 more	GBenign
Select item 380736	NM_001289808.2(CRYAB):c.324+3A>G	CRYAB	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 264247	NM_001289808.2(CRYAB):c.324G>C (p.Gln108His)	CRYAB (Q108H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 579144	NM_001289808.2(CRYAB):c.301C>A (p.His101Asn)	CRYAB (H101N +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II +1 more	GUncertain significance
Select item 1074961	NM_001289808.2(CRYAB):c.295G>T (p.Glu99Ter)	CRYAB (E32* +1 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 854963	NM_001289808.2(CRYAB):c.277G>T (p.Val93Leu)	CRYAB (V26L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2892479	NM_001289808.2(CRYAB):c.222G>C (p.Arg74Ser)	CRYAB (R7S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 477732	NM_001289808.2(CRYAB):c.216G>A (p.Lys72=)	CRYAB	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 941595	NM_001289808.2(CRYAB):c.206G>A (p.Arg69His)	CRYAB (R2H +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1025732	NM_001289808.2(CRYAB):c.205C>A (p.Arg69Ser)	CRYAB (R2S +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II +1 more	GUncertain significance
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 1386754	NM_001289808.2(CRYAB):c.187A>G (p.Thr63Ala)	CRYAB (T63A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1779945	NM_001289808.2(CRYAB):c.177C>T (p.Ser59=)	CRYAB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 696164	NM_001289808.2(CRYAB):c.174C>A (p.Pro58=)	CRYAB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 41929	NM_001289808.2(CRYAB):c.166C>T (p.Arg56Trp)	CRYAB (R56W)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II +2 more	GConflicting classifications of pathogenicity
Select item 44233	NM_001289808.2(CRYAB):c.165G>A (p.Leu55=)	CRYAB	Single nucleotide variant (synonymous variant)	Myofibrillar Myopathy, Dominant +6 more	GBenign
Select item 3269647	NM_001289808.2(CRYAB):c.153A>T (p.Pro51=)	CRYAB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 44232	NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu)	CRYAB (P51L)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 281506	NM_001289808.2(CRYAB):c.149G>A (p.Arg50Gln)	CRYAB (R50Q)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II +2 more	GUncertain significance
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 933611	NM_001289808.2(CRYAB):c.133A>G (p.Ser45Gly)	CRYAB (S45G)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II +1 more	GUncertain significance
Select item 1769610	NM_001289808.2(CRYAB):c.130C>A (p.Leu44Met)	CRYAB (L44M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 701484	NM_001289808.2(CRYAB):c.126T>G (p.Thr42=)	CRYAB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1762693	NM_001289808.2(CRYAB):c.125C>G (p.Thr42Ser)	CRYAB (T42S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 477730	NM_001289808.2(CRYAB):c.120G>A (p.Thr40=)	CRYAB	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1II +2 more	GLikely benign
Select item 178013	NM_001289808.2(CRYAB):c.116C>T (p.Pro39Leu)	CRYAB (P39L)	Single nucleotide variant (missense variant)	Cataract 16 multiple types +6 more	GConflicting classifications of pathogenicity
Select item 657190	NM_001289808.2(CRYAB):c.115C>T (p.Pro39Ser)	CRYAB (P39S)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 2 +4 more	GUncertain significance
Select item 571646	NM_001289808.2(CRYAB):c.115C>G (p.Pro39Ala)	CRYAB (P39A)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II +5 more	GUncertain significance
Select item 843625	NM_001289808.2(CRYAB):c.112T>C (p.Phe38Leu)	CRYAB (F38L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1388843	NM_001289808.2(CRYAB):c.85G>A (p.Gly29Arg)	CRYAB (G29R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 839870	NM_001289808.2(CRYAB):c.85G>C (p.Gly29Arg)	CRYAB (G29R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II +2 more	GUncertain significance
Select item 1150664	NM_001289808.2(CRYAB):c.84C>T (p.Phe28=)	CRYAB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 3077702	NM_001289808.2(CRYAB):c.81C>G (p.Phe27Leu)	CRYAB (F27L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3221864	NM_001289808.2(CRYAB):c.69C>G (p.Leu23=)	CRYAB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 518521	NM_001289808.2(CRYAB):c.68T>C (p.Leu23Pro)	CRYAB (L23P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 44239	NM_001289808.2(CRYAB):c.60C>T (p.Pro20=)	CRYAB	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign
Select item 1749742	NM_001289808.2(CRYAB):c.57C>T (p.Ser19=)	CRYAB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1749738	NM_001289808.2(CRYAB):c.57C>G (p.Ser19=)	CRYAB	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1II +1 more	GConflicting classifications of pathogenicity
Select item 3221862	NM_001289808.2(CRYAB):c.54C>T (p.His18=)	CRYAB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 915577	NM_001289808.2(CRYAB):c.52C>T (p.His18Tyr)	CRYAB (H18Y)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II +2 more	GUncertain significance
Select item 1390439	NM_001289808.2(CRYAB):c.41T>C (p.Phe14Ser)	CRYAB (F14S)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 2 +2 more	GUncertain significance
Select item 1044759	NM_001289808.2(CRYAB):c.37C>A (p.Pro13Thr)	CRYAB (P13T)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 2 +5 more	GUncertain significance
Select item 3221861	NM_001289808.2(CRYAB):c.34C>G (p.Arg12Gly)	CRYAB (R12G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 870393	NM_001289808.2(CRYAB):c.32G>A (p.Arg11His)	CRYAB (R11H)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 964348	NM_001289808.2(CRYAB):c.31C>G (p.Arg11Gly)	CRYAB (R11G)	Single nucleotide variant (missense variant)	Fatal infantile hypertonic myofibrillar myopathy +5 more	GUncertain significance
Select item 222530	NM_001289808.2(CRYAB):c.22C>T (p.Pro8Ser)	CRYAB (P8S)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 1787586	NM_001289808.2(CRYAB):c.21C>T (p.His7=)	CRYAB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 546688	NM_001289808.2(CRYAB):c.19C>T (p.His7Tyr)	CRYAB (H7Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1433631	NM_001289808.2(CRYAB):c.17A>T (p.His6Leu)	CRYAB (H6L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3221860	NM_001289808.2(CRYAB):c.10G>T (p.Ala4Ser)	CRYAB (A4S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 931448	NM_001289808.2(CRYAB):c.10G>A (p.Ala4Thr)	CRYAB (A4T)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II +2 more	GUncertain significance
Select item 514143	NM_001289808.2(CRYAB):c.9C>T (p.Ile3=)	CRYAB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 516018	NM_001289808.2(CRYAB):c.6C>T (p.Asp2=)	CRYAB	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2447638	NM_001289808.2(CRYAB):c.4G>A (p.Asp2Asn)	CRYAB (D2N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 518622	NM_001289808.2(CRYAB):c.-2C>T	CRYAB	Single nucleotide variant (5 prime UTR variant)	Cardiovascular phenotype	GUncertain significance
Select item 2524688	NM_001541.4(HSPB2):c.10C>A (p.Arg4Ser)	CRYAB, HSPB2 +1 more (R4S)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2285303	NM_001541.4(HSPB2):c.22C>T (p.His8Tyr)	CRYAB, HSPB2 +1 more (H8Y)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2375807	NM_001541.4(HSPB2):c.23A>G (p.His8Arg)	CRYAB, HSPB2 +1 more (H8R)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3284958	NM_001541.4(HSPB2):c.160G>A (p.Ala54Thr)	CRYAB, HSPB2 +1 more (A54T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3284959	NM_001541.4(HSPB2):c.280G>A (p.Asp94Asn)	CRYAB, HSPB2 +1 more (D94N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303449	NM_001541.4(HSPB2):c.304C>T (p.Arg102Trp)	CRYAB, HSPB2 +1 more (R102W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236174	NM_001541.4(HSPB2):c.337G>A (p.Val113Met)	CRYAB, HSPB2 +1 more (V113M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286826	NM_001541.4(HSPB2):c.455A>G (p.His152Arg)	CRYAB, HSPB2 +1 more (H152R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356834	NM_001541.4(HSPB2):c.532G>A (p.Ala178Thr)	CRYAB, HSPB2 +1 more (A178T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 93