"Fulgent Genetics, Fulgent Genetics"[submitter] AND "CRYAB"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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)	Cardiovascular phenotype +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 419895	NM_001289808.2(CRYAB):c.324+13dup	CRYAB	Duplication (intron variant)	Myofibrillar myopathy 2 +4 more	GBenign/Likely benign
Select item 1410499	NM_001289808.2(CRYAB):c.319C>T (p.Arg107Cys)	CRYAB (R107C +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 643345	NM_001289808.2(CRYAB):c.275A>G (p.Lys92Arg)	CRYAB (K25R +1 more)	Single nucleotide variant (missense variant)	Fatal infantile hypertonic myofibrillar myopathy +4 more	GUncertain significance
Select item 657757	NM_001289808.2(CRYAB):c.119C>T (p.Thr40Met)	CRYAB (T40M)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 2 +3 more	GUncertain significance
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 302432	NM_001289808.2(CRYAB):c.102G>T (p.Glu34Asp)	CRYAB (E34D)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 2 +4 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 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 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 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