ClinVar for MedGen (Select 318817) - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2804913	NM_005208.5(CRYBA1):c.358-11C>G	CRYBA1	Single nucleotide variant (intron variant)	Cataract 10 multiple types	GLikely benign
Select item 2787126	NM_005208.5(CRYBA1):c.101C>T (p.Thr34Ile)	CRYBA1 (T34I)	Single nucleotide variant (missense variant)	Cataract 10 multiple types	GUncertain significance
Select item 2748316	NM_005208.5(CRYBA1):c.215+5G>A	CRYBA1	Single nucleotide variant (intron variant)	Cataract 10 multiple types	GUncertain significance
Select item 2118967	NM_005208.5(CRYBA1):c.310G>A (p.Ala104Thr)	CRYBA1 (A104T)	Single nucleotide variant (missense variant)	Cataract 10 multiple types	GUncertain significance
Select item 2057920	NM_005208.5(CRYBA1):c.346A>G (p.Ile116Val)	CRYBA1 (I116V)	Single nucleotide variant (missense variant)	Cataract 10 multiple types	GBenign
Select item 1803183	NM_005208.5(CRYBA1):c.501-2_522del	CRYBA1	Deletion (splice acceptor variant)	Cataract 10 multiple types	GLikely pathogenic
Select item 1664962	NM_005208.5(CRYBA1):c.500+17G>A	CRYBA1	Single nucleotide variant (intron variant)	Cataract 10 multiple types	GLikely benign
Select item 1635540	NM_005208.5(CRYBA1):c.357+7C>T	CRYBA1	Single nucleotide variant (intron variant)	Cataract 10 multiple types	GLikely benign
Select item 1598589	NM_005208.5(CRYBA1):c.97-20G>A	CRYBA1	Single nucleotide variant (intron variant)	Cataract 10 multiple types	GBenign
Select item 1585651	NM_005208.5(CRYBA1):c.471A>G (p.Glu157=)	CRYBA1	Single nucleotide variant (synonymous variant)	Cataract 10 multiple types	GLikely benign
Select item 1571486	NM_005208.5(CRYBA1):c.173G>A (p.Arg58His)	CRYBA1 (R58H)	Single nucleotide variant (missense variant)	Cataract 10 multiple types	GLikely benign
Select item 1440392	NC_000017.10:g.(?_27579473)_(27581294_?)del	CRYBA1	Deletion	Cataract 10 multiple types	GUncertain significance
Select item 1435605	NM_005208.5(CRYBA1):c.548T>C (p.Leu183Ser)	CRYBA1 (L183S)	Single nucleotide variant (missense variant)	Cataract 10 multiple types	GUncertain significance
Select item 1430646	NM_005208.5(CRYBA1):c.344C>T (p.Pro115Leu)	CRYBA1 (P115L)	Single nucleotide variant (missense variant)	Cataract 10 multiple types	GUncertain significance
Select item 1377037	NM_005208.5(CRYBA1):c.490_491del (p.Gln164fs)	CRYBA1 (Q164fs)	Deletion (frameshift variant)	Cataract 10 multiple types	GUncertain significance
Select item 1376037	NM_005208.5(CRYBA1):c.548T>A (p.Leu183Ter)	CRYBA1 (L183*)	Single nucleotide variant (nonsense)	Cataract 10 multiple types	GUncertain significance
Select item 1334473	NM_005208.5(CRYBA1):c.500+1G>T	CRYBA1	Single nucleotide variant (splice donor variant)	Cataract 10 multiple types	GUncertain significance
Select item 1324178	NM_005208.5(CRYBA1):c.258del (p.Phe86fs)	CRYBA1 (F86fs)	Deletion (frameshift variant)	Cataract 10 multiple types	GLikely pathogenic
Select item 1209931	NM_005208.5(CRYBA1):c.500+1G>C	CRYBA1	Single nucleotide variant (splice donor variant)	Cataract 10 multiple types	GLikely pathogenic
Select item 1184515	NM_005208.5(CRYBA1):c.626C>G (p.Ser209Trp)	CRYBA1 (S209W)	Single nucleotide variant (missense variant)	Cataract 10 multiple types	GLikely pathogenic
Select item 1169825	NM_005208.5(CRYBA1):c.555T>C (p.Cys185=)	CRYBA1	Single nucleotide variant (synonymous variant)	Cataract 10 multiple types	GBenign
Select item 1166238	NM_005208.5(CRYBA1):c.75G>A (p.Pro25=)	CRYBA1	Single nucleotide variant (synonymous variant)	Cataract 10 multiple types	GBenign
Select item 1144862	NM_005208.5(CRYBA1):c.309T>C (p.Asn103=)	CRYBA1	Single nucleotide variant (synonymous variant)	Cataract 10 multiple types	GLikely benign
Select item 1126851	NM_005208.5(CRYBA1):c.464A>G (p.Asn155Ser)	CRYBA1 (N155S)	Single nucleotide variant (missense variant)	Cataract 10 multiple types +1 more	GConflicting classifications of pathogenicity
Select item 1104777	NM_005208.5(CRYBA1):c.31+7A>G	CRYBA1	Single nucleotide variant (intron variant)	Cataract 10 multiple types	GLikely benign
Select item 1073011	NM_005208.5(CRYBA1):c.215+1G>C	CRYBA1	Single nucleotide variant (splice donor variant)	Cataract 10 multiple types	GPathogenic
Select item 1031516	NM_005208.5(CRYBA1):c.367G>A (p.Glu123Lys)	CRYBA1 (E123K)	Single nucleotide variant (missense variant)	Cataract 10 multiple types	GUncertain significance
Select item 1025844	NM_005208.5(CRYBA1):c.465C>A (p.Asn155Lys)	CRYBA1 (N155K)	Single nucleotide variant (missense variant)	Cataract 10 multiple types	GUncertain significance
Select item 837034	NM_005208.5(CRYBA1):c.197T>G (p.Leu66Arg)	CRYBA1 (L66R)	Single nucleotide variant (missense variant)	Cataract 10 multiple types	GUncertain significance
Select item 702784	NM_005208.5(CRYBA1):c.89C>T (p.Pro30Leu)	CRYBA1 (P30L)	Single nucleotide variant (missense variant)	Cataract 10 multiple types	GBenign
Select item 682483	NM_005208.5(CRYBA1):c.97-8C>T	CRYBA1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 665795	NM_005208.5(CRYBA1):c.590_591del (p.Glu197fs)	CRYBA1 (E197fs)	Microsatellite (frameshift variant)	Cataract 10 multiple types	GUncertain significance
Select item 572809	NM_005208.5(CRYBA1):c.215+1G>T	CRYBA1	Single nucleotide variant (splice donor variant)	Cataract 10 multiple types	GPathogenic
Select item 560445	NM_005208.5(CRYBA1):c.607_608del (p.Gln203fs)	CRYBA1 (Q203fs)	Deletion (frameshift variant)	Cataract 10 multiple types	GPathogenic
Select item 521851	NM_005208.5(CRYBA1):c.215+1G>A	CRYBA1	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 464096	NM_005208.5(CRYBA1):c.530_538del (p.Arg177_Tyr179del)	CRYBA1	Deletion (inframe_deletion)	Cataract 10 multiple types	GLikely pathogenic
Select item 425127	NM_005208.5(CRYBA1):c.269GAG[1] (p.Gly91del)	CRYBA1 (G91del)	Microsatellite (inframe_deletion)	Cataract 10 multiple types +1 more	GPathogenic/Likely pathogenic
Select item 259673	NM_005208.5(CRYBA1):c.74C>T (p.Pro25Leu)	CRYBA1 (P25L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 259672	NM_005208.5(CRYBA1):c.456C>T (p.Gly152=)	CRYBA1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 259671	NM_005208.5(CRYBA1):c.215+16C>T	CRYBA1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 225328	NM_005208.5(CRYBA1):c.500+1G>A	CRYBA1	Single nucleotide variant (splice donor variant)	Cataract 10 multiple types	GLikely pathogenic
Select item 68472	NM_005208.5(CRYBA1):c.475G>A (p.Gly159Ser)	CRYBA1 (G159S)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign

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Links from MedGen

Items: 42