"GeneDx"[submitter] AND "CRYBB2"[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1294002	NM_000496.3(CRYBB2):c.-26-25C>T	CRYBB2	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 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 3375888	NM_000496.3(CRYBB2):c.449+2T>C	CRYBB2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
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 16949	NM_000496.3(CRYBB2):c.463C>T (p.Gln155Ter)	CRYBB2 (Q155*)	Single nucleotide variant (nonsense)	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 452715	NM_000496.3(CRYBB2):c.532G>C (p.Gly178Arg)	CRYBB2 (G178R)	Single nucleotide variant (missense variant)	not provided	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 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 1210294	NM_000496.3(CRYBB2):c.562C>T (p.Arg188Cys)	CRYBB2 (R188C)	Single nucleotide variant (missense variant)	Cataract 3 multiple types +1 more	GPathogenic/Likely 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 1202664	NM_000496.3(CRYBB2):c.*49G>A	CRYBB2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1326196	NC_000022.11:g.25231905TG[17]	CRYBB2	Microsatellite	not provided	GLikely benign
Select item 1267330	NC_000022.11:g.25231905TG[15]	CRYBB2	Microsatellite	not provided	GBenign
Select item 1221880	NC_000022.11:g.25231905TG[16]	CRYBB2	Microsatellite	not provided	GBenign
Select item 1266304	NC_000022.11:g.25231905TG[13]	CRYBB2	Microsatellite	not provided	GBenign
Select item 1281743	NC_000022.11:g.25231932GT[2]GA[2]G[1]	CRYBB2	Microsatellite	not provided	GBenign
Select item 1241294	NC_000022.11:g.25231933AG[13]	CRYBB2	Microsatellite	not provided	GBenign
Select item 1239604	NC_000022.11:g.25231932GT[4]GA[3]G[1]	CRYBB2	Microsatellite	not provided	GBenign
Select item 1197239	NC_000022.11:g.25231931T>A	CRYBB2	Single nucleotide variant	not provided	GLikely benign
Select item 1180328	NC_000022.11:g.25231932GT[3]GA[3]G[1]	CRYBB2	Microsatellite	not provided	GBenign
Select item 1244768	NC_000022.11:g.25231933AG[11]	CRYBB2	Microsatellite	not provided	GBenign
Select item 1182056	NC_000022.11:g.25231933A>T	CRYBB2	Single nucleotide variant	not provided	GBenign
Select item 1252400	NC_000022.11:g.25232032C>T	CRYBB2	Single nucleotide variant	not provided	GBenign
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 253473	GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3	ADA2, ADORA2A +135 more	Copy number gain	See cases	GPathogenic
Select item 3359737	NM_000496.3(CRYBB2):c.467A>G (p.Tyr156Cys)	CRYBB2 (Y156C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 51