CRYBB2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067187, LOC130067188 +556 more	Copy number gain	See cases	GPathogenic
Select item 57499	GRCh38/hg38 22q11.23(chr22:24884631-25299561)x3	CRYBB2, CRYBB3 +13 more	Copy number gain	See cases	GUncertain significance
Select item 148675	GRCh38/hg38 22q11.23-12.1(chr22:24972072-26101385)x3	CRYBB2, CRYBB3 +35 more	Copy number gain	See cases	GLikely benign
Select item 145620	GRCh38/hg38 22q11.23-12.1(chr22:25003092-28634004)x1	LOC130067151, LOC130067152 +119 more	Copy number loss	See cases	GLikely pathogenic
Select item 1294002	NM_000496.3(CRYBB2):c.-26-25C>T	CRYBB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 985325	NM_000496.3(CRYBB2):c.19A>G (p.Thr7Ala)	CRYBB2 (T7A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 429295	NM_000496.3(CRYBB2):c.26C>T (p.Ala9Val)	CRYBB2 (A9V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 667923	NM_000496.3(CRYBB2):c.40T>A (p.Ser14Thr)	CRYBB2 (S14T)	Single nucleotide variant (missense variant)	Cataract 3 multiple types +1 more	GBenign
Select item 1191251	NM_000496.3(CRYBB2):c.54+104G>C	CRYBB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1258808	NM_000496.3(CRYBB2):c.54+152A>G	CRYBB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211589	NM_000496.3(CRYBB2):c.54+279G>C	CRYBB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266097	NM_000496.3(CRYBB2):c.54+302C>G	CRYBB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1344952	NM_000496.3(CRYBB2):c.55-175T>C	CRYBB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 863971	NM_000496.3(CRYBB2):c.79T>G (p.Phe27Val)	CRYBB2 (F27V)	Single nucleotide variant (missense variant)	Cataract 3 multiple types	GUncertain significance
Select item 2491273	NM_000496.3(CRYBB2):c.109C>T (p.Pro37Ser)	CRYBB2 (P37S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3077712	NM_000496.3(CRYBB2):c.119A>G (p.Asn40Ser)	CRYBB2 (N40S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2994338	NM_000496.3(CRYBB2):c.135C>T (p.Gly45=)	CRYBB2	Single nucleotide variant (synonymous variant)	Cataract 3 multiple types	GLikely benign
Select item 2553664	NM_000496.3(CRYBB2):c.149G>A (p.Gly50Asp)	CRYBB2 (G50D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3347076	NM_000496.3(CRYBB2):c.159A>T (p.Leu53=)	CRYBB2	Single nucleotide variant (synonymous variant)	CRYBB2-related disorder	GLikely benign
Select item 463969	NM_000496.3(CRYBB2):c.161T>G (p.Val54Gly)	CRYBB2 (V54G)	Single nucleotide variant (missense variant)	Cataract 3 multiple types	GLikely pathogenic
Select item 2316067	NM_000496.3(CRYBB2):c.170G>A (p.Gly57Glu)	CRYBB2 (G57E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1210343	NM_000496.3(CRYBB2):c.173C>T (p.Pro58Leu)	CRYBB2 (P58L)	Single nucleotide variant (missense variant)	Cataract 3 multiple types	GLikely pathogenic
Select item 1038716	NM_000496.3(CRYBB2):c.173+1G>T	CRYBB2	Single nucleotide variant (splice donor variant)	Cataract 3 multiple types	GUncertain significance
Select item 2628639	NM_000496.3(CRYBB2):c.173+5G>A	CRYBB2	Single nucleotide variant (intron variant)	CRYBB2-related disorder	GUncertain significance
Select item 1280176	NM_000496.3(CRYBB2):c.173+120C>A	CRYBB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270079	NM_000496.3(CRYBB2):c.174-337G>A	CRYBB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1344953	NM_000496.3(CRYBB2):c.174-108G>A	CRYBB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186808	NM_000496.3(CRYBB2):c.174-83G>A	CRYBB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1947443	NM_000496.3(CRYBB2):c.174-12T>A	CRYBB2	Single nucleotide variant (intron variant)	Cataract 3 multiple types	GUncertain significance
Select item 849925	NM_000496.3(CRYBB2):c.181G>A (p.Gly61Ser)	CRYBB2 (G61S)	Single nucleotide variant (missense variant)	CRYBB2-related disorder +1 more	GUncertain significance
Select item 256281	NM_000496.3(CRYBB2):c.193G>T (p.Ala65Ser)	CRYBB2 (A65S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 3339897	NM_000496.3(CRYBB2):c.208G>A (p.Glu70Lys)	CRYBB2 (E70K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269657	NM_000496.3(CRYBB2):c.228G>T (p.Lys76Asn)	CRYBB2 (K76N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 986184	NM_000496.3(CRYBB2):c.229G>A (p.Gly77Ser)	CRYBB2 (G77S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 1093017	NM_000496.3(CRYBB2):c.231T>C (p.Gly77=)	CRYBB2	Single nucleotide variant (synonymous variant)	Cataract 3 multiple types	GLikely benign
Select item 463970	NM_000496.3(CRYBB2):c.242G>A (p.Arg81His)	CRYBB2 (R81H)	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 2385991	NM_000496.3(CRYBB2):c.259A>G (p.Ser87Gly)	CRYBB2 (S87G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547494	NM_000496.3(CRYBB2):c.261C>A (p.Ser87Arg)	CRYBB2 (S87R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1933674	NM_000496.3(CRYBB2):c.273G>A (p.Thr91=)	CRYBB2	Single nucleotide variant (synonymous variant)	Cataract 3 multiple types	GBenign
Select item 729477	NM_000496.3(CRYBB2):c.279C>T (p.Ser93=)	CRYBB2	Single nucleotide variant (synonymous variant)	Cataract 3 multiple types	GLikely benign
Select item 2833640	NM_000496.3(CRYBB2):c.292_293delinsCC (p.Arg98Pro)	CRYBB2 (R98P)	Indel (missense variant)	Cataract 3 multiple types	GUncertain significance
Select item 940153	NM_000496.3(CRYBB2):c.304G>A (p.Val102Met)	CRYBB2 (V102M)	Single nucleotide variant (missense variant)	Cataract 3 multiple types	GUncertain significance
Select item 1178501	NM_000496.3(CRYBB2):c.306+97G>A	CRYBB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188106	NM_000496.3(CRYBB2):c.306+102G>A	CRYBB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1174386	NM_000496.3(CRYBB2):c.307-304T>A	CRYBB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217812	NM_000496.3(CRYBB2):c.307-282C>T	CRYBB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1981759	NM_000496.3(CRYBB2):c.307-12C>T	CRYBB2	Single nucleotide variant (intron variant)	Cataract 3 multiple types	GLikely benign
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 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 242473	NM_000496.3(CRYBB2):c.355G>A (p.Gly119Arg)	CRYBB2 (G119R)	Single nucleotide variant (missense variant)	Cataract 3 multiple types	GPathogenic/Likely pathogenic
Select item 217348	NM_000496.2(CRYBB2):c.[343C>A;355G>A]	CRYBB2 (G119R +1 more)	Single nucleotide variant (missense variant)	Developmental cataract	GLikely pathogenic
Select item 1709845	NM_000496.3(CRYBB2):c.359AGA[1] (p.Lys121del)	CRYBB2 (K121del)	Microsatellite (inframe_deletion)	Cataract 3 multiple types	GUncertain significance
Select item 1478290	NM_000496.3(CRYBB2):c.384T>G (p.Asp128Glu)	CRYBB2 (D128E)	Single nucleotide variant (missense variant)	Cataract 3 multiple types	GUncertain significance
Select item 2085530	NM_000496.3(CRYBB2):c.389C>G (p.Pro130Arg)	CRYBB2 (P130R)	Single nucleotide variant (missense variant)	Cataract 3 multiple types	GUncertain significance
Select item 2386463	NM_000496.3(CRYBB2):c.400G>A (p.Ala134Thr)	CRYBB2 (A134T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281902	NM_000496.3(CRYBB2):c.418A>C (p.Lys140Gln)	CRYBB2 (K140Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1803265	NM_000496.3(CRYBB2):c.427T>C (p.Ser143Pro)	CRYBB2 (S143P)	Single nucleotide variant (missense variant)	Cataract 3 multiple types	GLikely pathogenic
Select item 1366735	NM_000496.3(CRYBB2):c.431T>A (p.Val144Glu)	CRYBB2 (V144E)	Single nucleotide variant (missense variant)	Cataract 3 multiple types	GUncertain significance
Select item 2628849	NM_000496.3(CRYBB2):c.433C>T (p.Arg145Trp)	CRYBB2 (R145W)	Single nucleotide variant (missense variant)	CRYBB2-related disorder	GUncertain significance
Select item 2823220	NM_000496.3(CRYBB2):c.434G>C (p.Arg145Pro)	CRYBB2 (R145P)	Single nucleotide variant (missense variant)	Cataract 3 multiple types	GUncertain significance
Select item 952559	NM_000496.3(CRYBB2):c.446G>T (p.Gly149Val)	CRYBB2 (G149V)	Single nucleotide variant (missense variant)	Cataract 3 multiple types	GLikely pathogenic
Select item 2631627	NM_000496.3(CRYBB2):c.449C>G (p.Thr150Arg)	CRYBB2 (T150R)	Single nucleotide variant (missense variant)	CRYBB2-related disorder	GUncertain significance
Select item 3375888	NM_000496.3(CRYBB2):c.449+2T>C	CRYBB2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2767531	NM_000496.3(CRYBB2):c.449+6T>A	CRYBB2	Single nucleotide variant (intron variant)	Cataract 3 multiple types	GUncertain significance
Select item 256282	NM_000496.3(CRYBB2):c.449+9G>A	CRYBB2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 3006606	NM_000496.3(CRYBB2):c.449+18C>T	CRYBB2	Single nucleotide variant (intron variant)	Cataract 3 multiple types	GLikely benign
Select item 1219502	NM_000496.3(CRYBB2):c.449+34C>T	CRYBB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1259258	NM_000496.3(CRYBB2):c.449+324G>A	CRYBB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235765	NM_000496.3(CRYBB2):c.450-282CAGTA[4]	CRYBB2	Microsatellite (intron variant)	not provided	GBenign
Select item 1230327	NM_000496.3(CRYBB2):c.450-282CAGTA[3]	CRYBB2	Microsatellite (intron variant)	not provided	GBenign
Select item 1183152	NM_000496.3(CRYBB2):c.450-282CAGTA[5]	CRYBB2	Microsatellite (intron variant)	not provided	GBenign
Select item 1190903	NM_000496.3(CRYBB2):c.450-267_450-256del	CRYBB2	Deletion (intron variant)	not provided	GLikely benign
Select item 1210804	NM_000496.3(CRYBB2):c.450-208A>G	CRYBB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191335	NM_000496.3(CRYBB2):c.450-69C>T	CRYBB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248784	NM_000496.3(CRYBB2):c.450-68G>A	CRYBB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1344954	NM_000496.3(CRYBB2):c.450-61T>G	CRYBB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2791790	NM_000496.3(CRYBB2):c.450-19A>C	CRYBB2	Single nucleotide variant (intron variant)	Cataract 3 multiple types	GLikely benign
Select item 2791791	NM_000496.3(CRYBB2):c.450-16A>C	CRYBB2	Single nucleotide variant (intron variant)	Cataract 3 multiple types	GLikely benign
Select item 3077713	NM_000496.3(CRYBB2):c.450G>C (p.Thr150=)	CRYBB2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 16949	NM_000496.3(CRYBB2):c.463C>T (p.Gln155Ter)	CRYBB2 (Q155*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1708137	NM_000496.3(CRYBB2):c.470C>T (p.Pro157Leu)	CRYBB2 (P157L)	Single nucleotide variant (missense variant)	Cataract 3 multiple types	GPathogenic
Select item 16950	NM_000496.3(CRYBB2):c.471C>T (p.Pro157=)	CRYBB2	Single nucleotide variant (synonymous variant)	Cataract 3 multiple types	GPathogenic
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 1718159	NM_000496.3(CRYBB2):c.479G>C (p.Arg160Pro)	CRYBB2 (R160P)	Single nucleotide variant (missense variant)	Cataract 3 multiple types	GUncertain significance
Select item 571643	NM_000496.3(CRYBB2):c.481G>C (p.Gly161Arg)	CRYBB2 (G161R)	Single nucleotide variant (missense variant)	Cataract 3 multiple types	GUncertain significance
Select item 256283	NM_000496.3(CRYBB2):c.483G>A (p.Gly161=)	CRYBB2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 452715	NM_000496.3(CRYBB2):c.532G>C (p.Gly178Arg)	CRYBB2 (G178R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2653004	NM_000496.3(CRYBB2):c.543C>T (p.His181=)	CRYBB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 985072	NM_000496.3(CRYBB2):c.547C>T (p.Gln183Ter)	CRYBB2 (Q183*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GUncertain significance
Select item 546385	NM_000496.3(CRYBB2):c.547C>A (p.Gln183Lys)	CRYBB2 (Q183K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 463971	NM_000496.3(CRYBB2):c.551T>G (p.Val184Gly)	CRYBB2 (V184G)	Single nucleotide variant (missense variant)	Cataract 3 multiple types	GLikely pathogenic
Select item 3053425	NM_000496.3(CRYBB2):c.553C>T (p.Gln185Ter)	CRYBB2 (Q185*)	Single nucleotide variant (nonsense)	CRYBB2-related disorder	GUncertain significance

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