ClinVar for MedGen (Select 115964) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1801515	NM_004006.3(DMD):c.93+5G>T	DMD	Single nucleotide variant (intron variant)	Achondroplasia +1 more	Gnot provided
Select item 1341556	NM_021072.4(HCN1):c.737A>C (p.Glu246Ala)	HCN1 (E246A)	Single nucleotide variant (missense variant)	Febrile seizure (within the age range of 3 months to 6 years) +2 more	GPathogenic
Select item 803957	NM_004006.3(DMD):c.93+1G>T	DMD	Single nucleotide variant (splice donor variant)	Duchenne muscular dystrophy	GPathogenic
Select item 523527	NM_020366.4(RPGRIP1):c.2567_2568dup (p.Val857fs)	RPGRIP1 (V857fs +1 more)	Duplication (frameshift variant +1 more)	Retinal dystrophy +3 more	GLikely pathogenic
Select item 523415	NM_001142800.2(EYS):c.8519A>G (p.Glu2840Gly)	EYS, PHF3 (E2840G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa 25 +11 more	GUncertain significance
Select item 191059	NM_014249.4(NR2E3):c.119-2A>C	NR2E3	Single nucleotide variant (splice acceptor variant)	Ocular albinism +11 more	GPathogenic/Likely pathogenic
Select item 9481	NM_001298.3(CNGA3):c.829C>T (p.Arg277Cys)	CNGA3 (R277C +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic

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