ClinVar for MedGen (Select 862749) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1480625	NM_018474.6(KIZ):c.284C>T (p.Thr95Ile)	KIZ, LOC130065509 (T95I)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1167554	NM_018474.6(KIZ):c.1024C>G (p.Pro342Ala)	KIZ (P209A +4 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 69 +1 more	GBenign/Likely benign
Select item 1165069	NM_018474.6(KIZ):c.1331C>G (p.Ser444Cys)	KIZ (S311C +4 more)	Single nucleotide variant (missense variant)	KIZ-related condition +2 more	GBenign/Likely benign
Select item 813294	NM_018474.6(KIZ):c.86_89+19del	KIZ, LOC130065507	Deletion (splice donor variant)	Retinitis pigmentosa 69	GPathogenic
Select item 783860	NM_018474.6(KIZ):c.1809C>T (p.Phe603=)	KIZ	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 69 +1 more	GBenign/Likely benign
Select item 128243	NM_018474.6(KIZ):c.119_122del (p.Lys40fs)	KIZ (K40fs)	Deletion (5 prime UTR variant +2 more)	Retinal dystrophy +2 more	GPathogenic
Select item 128242	NM_018474.6(KIZ):c.52G>T (p.Glu18Ter)	KIZ, LOC130065507 (E18* +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GPathogenic
Select item 128241	NM_018474.6(KIZ):c.226C>T (p.Arg76Ter)	KIZ, LOC130065509 (R76*)	Single nucleotide variant (nonsense +2 more)	KIZ-related condition +3 more	GPathogenic

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