U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KIZ, LOC130065509
(T95I)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
KIZ
(P209A +4 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 69
+1 more
GBenign/Likely benign
KIZ
(S311C +4 more)
Single nucleotide variant
(missense variant)
KIZ-related condition
+2 more
GBenign/Likely benign
KIZ, LOC130065507
Deletion
(splice donor variant)
Retinitis pigmentosa 69
GPathogenic
KIZ
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 69
+1 more
GBenign/Likely benign
KIZ
(K40fs)
Deletion
(5 prime UTR variant +2 more)
not provided
+2 more
GPathogenic
KIZ, LOC130065507
(E18* +1 more)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GPathogenic
KIZ, LOC130065509
(R76*)
Single nucleotide variant
(nonsense +2 more)
Retinitis pigmentosa 69
+3 more
GPathogenic
Format
Items per page
Sort by
Choose Destination