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Links from MedGen

Items: 81

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MAF
Single nucleotide variant
(synonymous variant)
Cataract 21 multiple types
+1 more
GLikely benign
MAF
Single nucleotide variant
(synonymous variant)
Cataract 21 multiple types
+1 more
GLikely benign
MAF
Deletion
(inframe_deletion)
Cataract 21 multiple types
+1 more
GUncertain significance
MAF
Microsatellite
(inframe_deletion)
Cataract 21 multiple types
+1 more
GLikely benign
MAF
Deletion
(inframe_deletion)
Cataract 21 multiple types
+1 more
GUncertain significance
MAF
(H87P)
Single nucleotide variant
(missense variant)
Cataract 21 multiple types
+1 more
GUncertain significance
MAF
Single nucleotide variant
(3 prime UTR variant +1 more)
Cataract 21 multiple types
+1 more
GLikely benign
MAF
(N298H)
Single nucleotide variant
(missense variant)
Cataract 21 multiple types
+1 more
GUncertain significance
MAF
(G198S)
Single nucleotide variant
(missense variant)
Cataract 21 multiple types
+1 more
GUncertain significance
MAF
Microsatellite
(inframe_insertion)
Cataract 21 multiple types
+1 more
GUncertain significance
MAF
Single nucleotide variant
(synonymous variant)
Cataract 21 multiple types
+1 more
GLikely benign
MAF
(N298K)
Single nucleotide variant
(missense variant)
Cataract 21 multiple types
+1 more
GUncertain significance
MAF
(I287S)
Single nucleotide variant
(missense variant)
Cataract 21 multiple types
+1 more
GUncertain significance
MAF
(G215D)
Single nucleotide variant
(missense variant)
Cataract 21 multiple types
+1 more
GUncertain significance
MAF
(Q312R)
Single nucleotide variant
(missense variant)
Cataract 21 multiple types
+1 more
GUncertain significance
MAF
Microsatellite
(inframe_deletion)
Cataract 21 multiple types
+1 more
GLikely benign
MAF
Microsatellite
(inframe_insertion)
Cataract 21 multiple types
+1 more
GLikely benign
MAF
(E156D)
Single nucleotide variant
(missense variant)
Cataract 21 multiple types
+1 more
GUncertain significance
MAF
(G219S)
Single nucleotide variant
(missense variant)
Cataract 21 multiple types
+1 more
GUncertain significance
MAF
Single nucleotide variant
(synonymous variant)
Cataract 21 multiple types
+1 more
GLikely benign
MAF
Microsatellite
(inframe_insertion)
Cataract 21 multiple types
+1 more
GLikely benign
MAF
(P103H)
Single nucleotide variant
(missense variant)
Cataract 21 multiple types
+1 more
GLikely benign
MAF
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
MAF
(L289Q)
Single nucleotide variant
(missense variant)
Cataract 21 multiple types
+1 more
GUncertain significance
MAF
(Y301C)
Single nucleotide variant
(missense variant)
Cataract 21 multiple types
+1 more
GUncertain significance
MAF
Microsatellite
(inframe_insertion)
not provided
+2 more
GBenign/Likely benign
MAF
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
MAF
(G214A)
Single nucleotide variant
(missense variant)
Cataract 21 multiple types
+1 more
GBenign
MAF
(G238C)
Single nucleotide variant
(missense variant)
Ayme-Gripp syndrome
GUncertain significance
MAF
(K308E)
Single nucleotide variant
(missense variant)
Cataract 21 multiple types
+1 more
GUncertain significance
MAF
(D328E)
Single nucleotide variant
(missense variant)
Ayme-Gripp syndrome
GUncertain significance
MAF
(L138M)
Single nucleotide variant
(missense variant)
Cataract 21 multiple types
+1 more
GConflicting classifications of pathogenicity
MAF
(V163L)
Single nucleotide variant
(missense variant)
Ayme-Gripp syndrome
GUncertain significance
MAF
Single nucleotide variant
(synonymous variant)
Cataract 21 multiple types
+1 more
GLikely benign
MAF
Single nucleotide variant
(synonymous variant)
Cataract 21 multiple types
+1 more
GLikely benign
MAF
Single nucleotide variant
(synonymous variant)
Cataract 21 multiple types
+1 more
GBenign
MAF
Single nucleotide variant
(synonymous variant)
Cataract 21 multiple types
+1 more
GLikely benign
MAF
Single nucleotide variant
(synonymous variant)
Cataract 21 multiple types
+1 more
GLikely benign
MAF
(L266R)
Single nucleotide variant
(missense variant)
Cataract 21 multiple types
+1 more
GUncertain significance
MAF
Microsatellite
(inframe_deletion)
Cataract 21 multiple types
+1 more
GBenign
MAF
(R299C)
Single nucleotide variant
(missense variant)
Cataract 21 multiple types
+1 more
GPathogenic
MAF
Microsatellite
(inframe_insertion)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
MAF
(T62M)
Single nucleotide variant
(missense variant)
Cataract 21 multiple types
+1 more
GLikely pathogenic
MAF
(G154S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
MAF
(G145S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
MAF
(P248Q)
Single nucleotide variant
(missense variant)
Ayme-Gripp syndrome
GUncertain significance
MAF
Single nucleotide variant
(3 prime UTR variant +1 more)
Cataract 21 multiple types
+3 more
GBenign/Likely benign
MAF
Single nucleotide variant
(synonymous variant)
Cataract 21 multiple types
+1 more
GLikely benign
MAF
(G238del)
Microsatellite
(inframe_deletion)
Cataract 21 multiple types
+2 more
GConflicting classifications of pathogenicity
MAF
(G217S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GLikely benign
MAF
Deletion
(inframe_deletion)
Cataract 21 multiple types
+1 more
GLikely benign
MAF
(E20D)
Single nucleotide variant
(missense variant)
Ayme-Gripp syndrome
GUncertain significance
MAF
(C305Y)
Single nucleotide variant
(missense variant)
Cataract 21 multiple types
+1 more
GUncertain significance
MAF
(A302D)
Single nucleotide variant
(missense variant)
Cataract 21 multiple types
+1 more
GUncertain significance
MAF
(R306G)
Single nucleotide variant
(missense variant)
Cataract 21 multiple types
+1 more
GUncertain significance
MAF
(E370D)
Single nucleotide variant
(missense variant)
Cataract 21 multiple types
+1 more
GUncertain significance
MAF
Deletion
Cataract 21 multiple types
+1 more
GPathogenic
MAF
Single nucleotide variant
(synonymous variant)
Cataract 21 multiple types
+2 more
GLikely benign
MAF
(A343V)
Single nucleotide variant
(missense variant)
Cataract 21 multiple types
+1 more
GBenign
MAF
Single nucleotide variant
(synonymous variant)
Cataract 21 multiple types
+1 more
GLikely benign
MAF
(R294Q)
Single nucleotide variant
(missense variant)
Cataract 21 multiple types
+1 more
GPathogenic
LOC111429607, LOC112486209
+47 more
Deletion
Cataract 21 multiple types
+1 more
GPathogenic
MAF
Microsatellite
(inframe_insertion)
not provided
+3 more
GLikely benign
MAF
Single nucleotide variant
(synonymous variant)
Cataract 21 multiple types
+1 more
GLikely benign
MAF
(Q99fs)
Indel
(frameshift variant)
Cataract 21 multiple types
+1 more
GPathogenic
MAF
(P98Q)
Single nucleotide variant
(missense variant)
Cataract 21 multiple types
+1 more
GUncertain significance
MAF
(A302V)
Single nucleotide variant
(missense variant)
Ayme-Gripp syndrome
+1 more
GLikely pathogenic
MAF
(H256Q)
Single nucleotide variant
(missense variant)
Ayme-Gripp syndrome
+1 more
GUncertain significance
MAF
(A239T)
Single nucleotide variant
(missense variant)
Ayme-Gripp syndrome
+2 more
GBenign/Likely benign
MAF
Deletion
(inframe_deletion)
Cataract 21 multiple types
+3 more
GLikely benign
MAF
(G204V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign
MAF
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
MAF
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
MAF
Microsatellite
(5 prime UTR variant)
Ayme-Gripp syndrome
+3 more
GBenign
MAF
(P69R)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
MAF
(T62R)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
MAF
(P59L)
Single nucleotide variant
(missense variant)
Ayme-Gripp syndrome
GPathogenic
MAF
(P59H)
Single nucleotide variant
(missense variant)
Ayme-Gripp syndrome
GPathogenic
MAF
(T58I)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
MAF
(T58A)
Single nucleotide variant
(missense variant)
Ayme-Gripp syndrome
GPathogenic
MAF
(S54L)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
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