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Links from MedGen

Items: 36

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CRYGD, LOC100507443
(Y134C)
Single nucleotide variant
(missense variant)
Aculeiform cataract
GLikely benign
CRYGD, LOC100507443
Single nucleotide variant
(intron variant)
Aculeiform cataract
GBenign
CRYGD, LOC100507443
(L54del)
Deletion
(inframe_deletion)
Aculeiform cataract
GLikely pathogenic
CRYGD, LOC100507443
(S52P)
Single nucleotide variant
(missense variant)
Aculeiform cataract
GLikely pathogenic
CRYGD, LOC100507443
(L112V)
Single nucleotide variant
(missense variant)
Aculeiform cataract
GLikely benign
CRYGD, LOC100507443
(W157*)
Single nucleotide variant
(nonsense)
Aculeiform cataract
GLikely pathogenic
CRYGD, LOC100507443
(Y29C)
Single nucleotide variant
(missense variant)
Aculeiform cataract
GUncertain significance
CRYGD, LOC100507443
(N119S)
Single nucleotide variant
(missense variant)
Aculeiform cataract
GUncertain significance
CRYGD, LOC100507443
(C33R)
Single nucleotide variant
(missense variant)
Aculeiform cataract
GUncertain significance
CRYGD, LOC100507443
Single nucleotide variant
(intron variant)
Aculeiform cataract
+1 more
GBenign
CRYGD, LOC100507443
Single nucleotide variant
(synonymous variant)
Aculeiform cataract
GLikely benign
CRYGD, LOC100507443
(R115H)
Single nucleotide variant
(missense variant)
Aculeiform cataract
GUncertain significance
LOC100507443, CRYGD
(R15H)
Single nucleotide variant
(missense variant)
Aculeiform cataract
GBenign
CRYGD, LOC100507443
(H84Q)
Single nucleotide variant
(missense variant)
Aculeiform cataract
GUncertain significance
CRYGD, LOC100507443
(G61C)
Single nucleotide variant
(missense variant)
Aculeiform cataract
+1 more
GConflicting classifications of pathogenicity
CRYGD, LOC100507443
(A159fs)
Deletion
(frameshift variant)
Aculeiform cataract
GLikely pathogenic
CRYGD, LOC100507443
(R140*)
Single nucleotide variant
(nonsense)
Aculeiform cataract
+2 more
GPathogenic
CRYGD, LOC100507443
(S52W)
Single nucleotide variant
(missense variant)
Aculeiform cataract
+1 more
GUncertain significance
CRYGD, LOC100507443
(Y134fs)
Deletion
(frameshift variant)
Aculeiform cataract
GUncertain significance
CRYGD, LOC100507443
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
CRYGD, LOC100507443
(E8fs)
Indel
(frameshift variant)
Aculeiform cataract
GUncertain significance
CRYGD, LOC100507443
Single nucleotide variant
(intron variant)
Aculeiform cataract
+1 more
GBenign
CRYGD, LOC100507443
(M44V)
Single nucleotide variant
(missense variant)
Aculeiform cataract
+2 more
GBenign
CRYGD, LOC100507443
(Y56*)
Single nucleotide variant
(nonsense)
Aculeiform cataract
+3 more
GConflicting classifications of pathogenicity
CRYGD, LOC100507443
Single nucleotide variant
(intron variant)
Aculeiform cataract
+1 more
GBenign/Likely benign
CRYGD, LOC100507443
(H88Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CRYGD, LOC100507443
(V126M)
Single nucleotide variant
(missense variant)
Aculeiform cataract
+1 more
GBenign
CRYGD, LOC100507443
(N161S)
Single nucleotide variant
(missense variant)
CRYGD-related condition
+2 more
GUncertain significance
CRYGD, LOC100507443
Single nucleotide variant
(synonymous variant)
Aculeiform cataract
+1 more
GBenign
CRYGD, LOC100507443
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
CRYGD, LOC100507443
Single nucleotide variant
(synonymous variant)
Aculeiform cataract
+3 more
GBenign
LOC100507443, CRYGD
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
CRYGD, LOC100507443
(Y134*)
Single nucleotide variant
(nonsense)
Aculeiform cataract
GUncertain significance
CRYGD, LOC100507443
(P24T)
Single nucleotide variant
(missense variant)
Aculeiform cataract
+2 more
GPathogenic/Likely pathogenic
CRYGD, LOC100507443
(R59H)
Single nucleotide variant
(missense variant)
Aculeiform cataract
GPathogenic
CRYGD, LOC100507443
(R15C)
Single nucleotide variant
(missense variant)
Aculeiform cataract
+1 more
GPathogenic
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