"Clinical Genetics, Academic Medical Center"[submitter] AND "CRYAB"[ge - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 9

	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 162998	NM_001289808.2(CRYAB):c.510C>T (p.Thr170=)	CRYAB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 44238	NM_001289808.2(CRYAB):c.487C>T (p.Arg163Cys)	CRYAB (R163C +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II +3 more	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 disorder +10 more	GConflicting classifications of pathogenicity
Select item 44234	NM_001289808.2(CRYAB):c.324+4T>G	CRYAB	Single nucleotide variant (intron variant)	Cardiovascular phenotype +6 more	GBenign
Select item 1174944	NM_001289808.2(CRYAB):c.201+17C>G	CRYAB	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1II	GLikely benign
Select item 44233	NM_001289808.2(CRYAB):c.165G>A (p.Leu55=)	CRYAB	Single nucleotide variant (synonymous variant)	Cataract 16 multiple types +6 more	GBenign
Select item 44232	NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu)	CRYAB (P51L)	Single nucleotide variant (missense variant)	Cataract 16 multiple types +8 more	GConflicting classifications of pathogenicity
Select item 44239	NM_001289808.2(CRYAB):c.60C>T (p.Pro20=)	CRYAB	Single nucleotide variant (synonymous variant)	Cardiomyopathy +6 more	GBenign