ClinVar for MedGen (Select 321901) - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247569	NC_000022.10:g.(?_25623800)_(25627739_?)dup	CRYBB2	Duplication	Cataract 3 multiple types	GUncertain significance
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 2994338	NM_000496.3(CRYBB2):c.135C>T (p.Gly45=)	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 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 2791791	NM_000496.3(CRYBB2):c.450-16A>C	CRYBB2	Single nucleotide variant (intron variant)	Cataract 3 multiple types	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 2767531	NM_000496.3(CRYBB2):c.449+6T>A	CRYBB2	Single nucleotide variant (intron variant)	Cataract 3 multiple types	GUncertain significance
Select item 2728991	NM_000496.3(CRYBB2):c.573C>T (p.Arg191=)	CRYBB2	Single nucleotide variant (synonymous variant)	Cataract 3 multiple types	GBenign
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 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 1981759	NM_000496.3(CRYBB2):c.307-12C>T	CRYBB2	Single nucleotide variant (intron variant)	Cataract 3 multiple types	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 1933674	NM_000496.3(CRYBB2):c.273G>A (p.Thr91=)	CRYBB2	Single nucleotide variant (synonymous variant)	Cataract 3 multiple types	GBenign
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 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 1709845	NM_000496.3(CRYBB2):c.359AGA[1] (p.Lys121del)	CRYBB2 (K121del)	Microsatellite (inframe_deletion)	Cataract 3 multiple types	GUncertain significance
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 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 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 1297040	NM_000496.3(CRYBB2):c.565_572delinsTGCATCCA (p.Arg189_Arg191delinsCysIleHis)	CRYBB2	Indel (missense variant)	Cataract 3 multiple types	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 1210294	NM_000496.3(CRYBB2):c.562C>T (p.Arg188Cys)	CRYBB2 (R188C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely 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 1039314	NM_000496.3(CRYBB2):c.559G>A (p.Val187Met)	CRYBB2 (V187M)	Single nucleotide variant (missense variant)	CRYBB2-related disorder +3 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 729477	NM_000496.3(CRYBB2):c.279C>T (p.Ser93=)	CRYBB2	Single nucleotide variant (synonymous variant)	Cataract 3 multiple types	GLikely benign
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 636565	NM_000448.3(RAG1):c.1618G>A (p.Gly540Arg)	RAG1 (G540R)	Single nucleotide variant (missense variant)	not provided +1 more	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 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 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 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 280142	NM_000496.3(CRYBB2):c.563G>A (p.Arg188His)	CRYBB2 (R188H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
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 256282	NM_000496.3(CRYBB2):c.449+9G>A	CRYBB2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
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 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 16950	NM_000496.3(CRYBB2):c.471C>T (p.Pro157=)	CRYBB2	Single nucleotide variant (synonymous variant)	Cataract 3 multiple types	GPathogenic
Select item 16949	NM_000496.3(CRYBB2):c.463C>T (p.Gln155Ter)	CRYBB2 (Q155*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic

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Items: 50