Related gene-specific medical variations for Gene (Select 1415) - ClinVar - NCBI

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Links from Gene

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359737	NM_000496.3(CRYBB2):c.467A>G (p.Tyr156Cys)	CRYBB2 (Y156C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3247569	NC_000022.10:g.(?_25623800)_(25627739_?)dup	CRYBB2	Duplication	Cataract 3 multiple types	GUncertain significance
Select item 2442008	NM_000496.3(CRYBB2):c.325A>T (p.Ile109Phe)	CRYBB2 (I109F)	Single nucleotide variant (missense variant)	Cataract 3 multiple types	GUncertain significance
Select item 2440574	NM_000496.3(CRYBB2):c.112T>C (p.Cys38Arg)	CRYBB2 (C38R)	Single nucleotide variant (missense variant)	Cataract 3 multiple types	GUncertain significance
Select item 2440573	NM_000496.3(CRYBB2):c.152C>T (p.Ser51Phe)	CRYBB2 (S51F)	Single nucleotide variant (missense variant)	Cataract 3 multiple types	GUncertain significance
Select item 931053	NM_000496.3(CRYBB2):c.24G>C (p.Gln8His)	CRYBB2 (Q8H)	Single nucleotide variant (missense variant)	Cataract 3 multiple types	GUncertain significance
Select item 930464	NM_000496.3(CRYBB2):c.254G>T (p.Trp85Leu)	CRYBB2 (W85L)	Single nucleotide variant (missense variant)	Cataract 3 multiple types	GUncertain significance
Select item 930402	NM_000496.3(CRYBB2):c.472G>A (p.Gly158Ser)	CRYBB2 (G158S)	Single nucleotide variant (missense variant)	Cataract 3 multiple types	GUncertain significance
Select item 685652	GRCh37/hg19 22q11.23(chr22:25625248-25843405)x1	CRYBB2	Copy number loss	not provided	GUncertain significance
Select item 252952	NM_000496.3(CRYBB2):c.563G>T (p.Arg188Leu)	CRYBB2 (R188L)	Single nucleotide variant (missense variant)	Developmental cataract	GPathogenic
Select item 242474	NM_000496.3(CRYBB2):c.343C>A (p.Pro115Thr)	CRYBB2 (P115T)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 217350	NM_000496.3(CRYBB2):c.583T>G (p.Trp195Gly)	CRYBB2 (W195G)	Single nucleotide variant (missense variant)	Developmental cataract	GLikely pathogenic
Select item 217330	NM_000496.3(CRYBB2):c.556T>C (p.Ser186Pro)	CRYBB2 (S186P)	Single nucleotide variant (missense variant)	Developmental cataract	GLikely pathogenic