ClinVar for MedGen (Select 10349) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 982518	NM_025114.4(CEP290):c.[1429C>T];[322C>T]			Leber congenital amaurosis	GPathogenic
Select item 654881	NM_025114.4(CEP290):c.322C>T (p.Arg108Ter)	CEP290 (R108*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 14 +5 more	GPathogenic
Select item 598973	NM_006005.3(WFS1):c.1999C>T (p.Gln667Ter)	WFS1 (Q667*)	Single nucleotide variant (nonsense)	not provided +20 more	GPathogenic/Likely pathogenic
Select item 598972	NM_001244008.2(KIF1A):c.3052C>T (p.His1018Tyr)	KIF1A (H917Y +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +22 more	GUncertain significance
Select item 598971	NM_001822.7(CHN1):c.667G>A (p.Ala223Thr)	CHN1 (A223T +3 more)	Single nucleotide variant (missense variant +1 more)	Cleft palate +19 more	GLikely pathogenic
Select item 523395	NM_001039348.3(EFEMP1):c.1189T>C (p.Tyr397His)	EFEMP1 (Y397H)	Single nucleotide variant (missense variant)	Blindness +4 more	GLikely pathogenic
Select item 523365	NM_000390.4(CHM):c.75_77del (p.Ala26del)	CHM (A26del)	Deletion (inframe_deletion +1 more)	Chorioretinal atrophy +1 more	GLikely pathogenic
Select item 13014	NM_000539.3(RHO):c.1040C>T (p.Pro347Leu)	RHO (P347L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +7 more	GPathogenic/Likely pathogenic

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