"GeneDx"[submitter] AND "CRYAB"[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 385151	NM_001289808.2(CRYAB):c.*16T>C	CRYAB	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 1210799	NM_001289808.2(CRYAB):c.*3G>C	CRYAB	Single nucleotide variant (3 prime UTR variant)	not provided	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 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 511155	NM_001289808.2(CRYAB):c.471C>G (p.Arg157=)	CRYAB	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1II +1 more	GLikely benign
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 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 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 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 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)	Myofibrillar myopathy 2 +4 more	GBenign/Likely benign
Select item 449708	NM_001289808.2(CRYAB):c.324+4_324+5delinsGT	CRYAB	Indel (intron variant)	Cardiovascular phenotype +2 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 477732	NM_001289808.2(CRYAB):c.216G>A (p.Lys72=)	CRYAB	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 385377	NM_001289808.2(CRYAB):c.202-18T>C	CRYAB	Single nucleotide variant (5 prime UTR variant +1 more)	Dilated cardiomyopathy 1II +1 more	GLikely benign
Select item 1188400	NM_001289808.2(CRYAB):c.202-340C>G	CRYAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 515691	NM_001289808.2(CRYAB):c.201+14C>G	CRYAB	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 451483	NM_001289808.2(CRYAB):c.188C>T (p.Thr63Ile)	CRYAB (T63I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 452932	NM_001289808.2(CRYAB):c.167G>A (p.Arg56Gln)	CRYAB (R56Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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 748277	NM_001289808.2(CRYAB):c.117G>A (p.Pro39=)	CRYAB	Single nucleotide variant (synonymous variant)	not provided +1 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 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 569482	NM_001289808.2(CRYAB):c.65G>A (p.Arg22His)	CRYAB (R22H)	Single nucleotide variant (missense variant)	not provided +4 more	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 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 1069484	NM_001289808.2(CRYAB):c.34C>T (p.Arg12Cys)	CRYAB (R12C)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II +1 more	GConflicting classifications of pathogenicity
Select item 201688	NM_001289808.2(CRYAB):c.16C>T (p.His6Tyr)	CRYAB (H6Y)	Single nucleotide variant (missense variant)	Cataract 16 multiple types +4 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 44236	NM_001289808.2(CRYAB):c.3G>A (p.Met1Ile)	CRYAB (M1I)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 302433	NM_001289808.2(CRYAB):c.-21C>T	CRYAB	Single nucleotide variant (5 prime UTR variant)	Myofibrillar Myopathy, Dominant +3 more	GBenign/Likely benign
Select item 680264	NM_001885.3(CRYAB):c.-198-51C>G	CRYAB	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1II +1 more	GBenign
Select item 1213408	NM_001885.3(CRYAB):c.-198-155C>A	CRYAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207966	NM_001885.3(CRYAB):c.-198-176C>T	CRYAB	Single nucleotide variant (intron variant)	not provided	GLikely benign

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Items: 47