C1864446[trait identifier] AND "3billion"[submitter] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 143115	NM_001142800.2(EYS):c.8805C>A (p.Tyr2935Ter)	EYS, PHF3 (Y2935* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +3 more	GPathogenic/Likely pathogenic
Select item 632068	NM_001142800.2(EYS):c.7394C>G (p.Thr2465Ser)	EYS (T2465S)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 281325	NM_001142800.2(EYS):c.6794del (p.Pro2265fs)	EYS (P2265fs)	Deletion (frameshift variant)	Retinal dystrophy +3 more	GPathogenic
Select item 189230	NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr)	EYS (C2139Y)	Single nucleotide variant (missense variant)	EYS-related condition +4 more	GPathogenic/Likely pathogenic
Select item 1333618	NM_001142800.2(EYS):c.6313C>T (p.Gln2105Ter)	EYS (Q2105*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1333341	NM_001142800.2(EYS):c.6191+1G>A	EYS	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 195939	NM_001142800.2(EYS):c.5644+5G>A	EYS	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1333220	NM_001142800.2(EYS):c.5626C>T (p.Gln1876Ter)	EYS (Q1876*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 854605	NM_001142800.2(EYS):c.1349A>C (p.Asn450Thr)	EYS (N450T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 912059	NM_001142800.2(EYS):c.1293A>T (p.Arg431Ser)	EYS (R431S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 938652	NM_001142800.2(EYS):c.984del (p.Asn328fs)	EYS (N328fs)	Deletion (frameshift variant)	Retinitis pigmentosa 25 +1 more	GPathogenic
Select item 197186	NM_001142800.2(EYS):c.490C>T (p.Arg164Ter)	EYS (R164*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic