C1864446[trait identifier] AND "Broad Center for Mendelian Genomics, B - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 538	NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter)	EYS, PHF3 (Y3156* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	EYS-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 802230	NM_001142800.2(EYS):c.9299_9302del (p.Thr3100fs)	EYS, PHF3 (T3100fs +1 more)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 25 +4 more	GPathogenic/Likely pathogenic
Select item 289906	NM_001142800.2(EYS):c.9286_9295del (p.Val3096fs)	EYS, PHF3 (V3117fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 1065672	NM_001142800.2(EYS):c.8606C>G (p.Ser2869Ter)	EYS, PHF3 (S2869* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +3 more	GPathogenic/Likely pathogenic
Select item 402227	NM_001142800.2(EYS):c.6976C>T (p.Arg2326Ter)	EYS (R2326*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa +3 more	GPathogenic/Likely pathogenic
Select item 1075992	NM_001142800.2(EYS):c.6812_6813del (p.Thr2271fs)	EYS (T2271fs)	Microsatellite (frameshift variant)	Retinitis pigmentosa 25 +2 more	GPathogenic/Likely pathogenic
Select item 357699	NM_001142800.2(EYS):c.6714del (p.Ile2239fs)	EYS (I2239fs)	Deletion (frameshift variant)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 854334	NM_001142800.2(EYS):c.6571+1G>A	EYS	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 189230	NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr)	EYS (C2139Y)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 438200	NM_001142800.2(EYS):c.5928-2A>G	EYS	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 25 +3 more	GPathogenic
Select item 195938	NM_001142800.2(EYS):c.4402G>C (p.Asp1468His)	EYS (D1468H)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +4 more	GUncertain significance
Select item 195936	NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs)	EYS (I1451fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 195665	NM_001142800.2(EYS):c.3443+1G>T	EYS	Single nucleotide variant (splice donor variant)	Retinal dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 1297160	NM_001142800.2(EYS):c.3164+1G>A	EYS	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 25 +2 more	GPathogenic/Likely pathogenic
Select item 2579231	GRCh38/hg38 6q12(chr6:64902016-64946012)x1	EYS	Copy number loss	Retinitis pigmentosa 25	GPathogenic
Select item 2579229	GRCh38/hg38 6q12(chr6:64997485-65057825)x0	EYS	Copy number loss	Retinitis pigmentosa 25	GPathogenic
Select item 194358	NM_001142800.2(EYS):c.2194C>T (p.Gln732Ter)	EYS (Q732*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25 +3 more	GPathogenic/Likely pathogenic
Select item 2579233	GRCh38/hg38 6q12(chr6:65331371-65405465)x1	EYS, LOC132089417	Copy number loss	Retinitis pigmentosa 25	GLikely pathogenic
Select item 1297159	NM_001142800.2(EYS):c.174G>A (p.Trp58Ter)	EYS (W58*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 866202	NM_001142800.2(EYS):c.32dup (p.Met12fs)	EYS (M12fs)	Duplication (frameshift variant)	Retinitis pigmentosa +3 more	GPathogenic/Likely pathogenic

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Items: 20