ClinVar for MedGen (Select 101117) - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2997085	NM_017541.4(CRYGS):c.21+6T>C	CRYGS	Single nucleotide variant (intron variant)	Cataract 20 multiple types	GUncertain significance
Select item 2887086	NM_017541.4(CRYGS):c.502C>T (p.Pro168Ser)	CRYGS (P168S)	Single nucleotide variant (missense variant)	Cataract 20 multiple types	GUncertain significance
Select item 2810466	NM_017541.4(CRYGS):c.139T>C (p.Trp47Arg)	CRYGS (W47R)	Single nucleotide variant (missense variant)	Cataract 20 multiple types	GUncertain significance
Select item 2772725	NM_017541.4(CRYGS):c.450C>A (p.Tyr150Ter)	CRYGS (Y150*)	Single nucleotide variant (nonsense)	Cataract 20 multiple types	GUncertain significance
Select item 2734603	NM_017541.4(CRYGS):c.53G>A (p.Gly18Asp)	CRYGS (G18D)	Single nucleotide variant (missense variant)	Cataract 20 multiple types	GPathogenic
Select item 2498946	NM_017541.4(CRYGS):c.305G>A (p.Gly102Glu)	CRYGS (G102E)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2440576	NM_017541.4(CRYGS):c.436C>T (p.Arg146Cys)	CRYGS (R146C)	Single nucleotide variant (missense variant)	Cataract 20 multiple types	GUncertain significance
Select item 2197267	NM_017541.4(CRYGS):c.107G>A (p.Arg36His)	CRYGS (R36H)	Single nucleotide variant (missense variant)	Cataract 20 multiple types	GUncertain significance
Select item 1806343	NM_017541.4(CRYGS):c.421G>T (p.Glu141Ter)	CRYGS (E141*)	Single nucleotide variant (nonsense)	Cataract 20 multiple types	GUncertain significance
Select item 1574568	NM_017541.4(CRYGS):c.265-12G>A	CRYGS	Single nucleotide variant (intron variant)	Cataract 20 multiple types	GLikely benign
Select item 1492005	NM_017541.4(CRYGS):c.269G>C (p.Ser90Thr)	CRYGS (S90T)	Single nucleotide variant (missense variant)	Cataract 20 multiple types	GUncertain significance
Select item 1485465	NM_017541.4(CRYGS):c.62A>G (p.Tyr21Cys)	CRYGS (Y21C)	Single nucleotide variant (missense variant)	Cataract 20 multiple types	GUncertain significance
Select item 1446817	NM_017541.4(CRYGS):c.32A>G (p.Tyr11Cys)	CRYGS (Y11C)	Single nucleotide variant (missense variant)	Cataract 20 multiple types	GUncertain significance
Select item 1415793	NM_017541.4(CRYGS):c.215G>A (p.Arg72His)	CRYGS (R72H)	Single nucleotide variant (missense variant)	Cataract 20 multiple types +1 more	GConflicting classifications of pathogenicity
Select item 1400078	NM_017541.4(CRYGS):c.236G>A (p.Arg79His)	CRYGS (R79H)	Single nucleotide variant (missense variant)	Cataract 20 multiple types	GUncertain significance
Select item 1358112	NM_017541.4(CRYGS):c.224G>A (p.Gly75Asp)	CRYGS (G75D)	Single nucleotide variant (missense variant)	Cataract 20 multiple types	GUncertain significance
Select item 1207340	NM_017541.4(CRYGS):c.306G>A (p.Gly102=)	CRYGS	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1169999	NM_017541.4(CRYGS):c.294C>A (p.Ile98=)	CRYGS	Single nucleotide variant (synonymous variant)	Cataract 20 multiple types	GBenign
Select item 1169654	NM_017541.4(CRYGS):c.77A>G (p.Asp26Gly)	CRYGS (D26G)	Single nucleotide variant (missense variant)	Cataract 20 multiple types +1 more	GConflicting classifications of pathogenicity
Select item 1013944	NM_017541.4(CRYGS):c.248G>A (p.Cys83Tyr)	CRYGS (C83Y)	Single nucleotide variant (missense variant)	Cataract 20 multiple types	GUncertain significance
Select item 1009187	NM_017541.4(CRYGS):c.247T>C (p.Cys83Arg)	CRYGS (C83R)	Single nucleotide variant (missense variant)	Cataract 20 multiple types	GUncertain significance
Select item 851976	NM_017541.4(CRYGS):c.299A>C (p.Glu100Ala)	CRYGS (E100A)	Single nucleotide variant (missense variant)	Cataract 20 multiple types +1 more	GUncertain significance
Select item 702786	NM_017541.4(CRYGS):c.39C>A (p.Asp13Glu)	CRYGS (D13E)	Single nucleotide variant (missense variant)	Cataract 20 multiple types +2 more	GConflicting classifications of pathogenicity
Select item 617601	NM_017541.4(CRYGS):c.124G>A (p.Val42Met)	CRYGS (V42M)	Single nucleotide variant (missense variant)	Cataract 20 multiple types	GPathogenic
Select item 617600	NM_017541.4(CRYGS):c.116C>G (p.Ser39Cys)	CRYGS (S39C)	Single nucleotide variant (missense variant)	Cataract 20 multiple types	GPathogenic
Select item 530955	NM_017541.4(CRYGS):c.24T>A (p.Ile8=)	CRYGS	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 461820	NM_017541.4(CRYGS):c.253G>A (p.Ala85Thr)	CRYGS (A85T)	Single nucleotide variant (missense variant)	Cataract 20 multiple types	GUncertain significance
Select item 16936	NM_017541.4(CRYGS):c.53G>T (p.Gly18Val)	CRYGS (G18V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GPathogenic

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Items: 28