C0730292[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 99428	NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln)	ABCA4 (R2030Q +1 more)	Single nucleotide variant (missense variant)	ABCA4-related disorder +6 more	GPathogenic/Likely pathogenic
Select item 7888	NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)	ABCA4 (G1961E +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +12 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance
Select item 92870	NM_000350.3(ABCA4):c.5461-10T>C	ABCA4	Single nucleotide variant (intron variant)	Cone-rod dystrophy 3 +7 more	GPathogenic/Likely pathogenic
Select item 7894	NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)	ABCA4 (A1038V +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +9 more	GPathogenic/Likely pathogenic
Select item 99067	NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)	ABCA4 (L541P)	Single nucleotide variant (missense variant)	ABCA4-related disorder +7 more	GPathogenic/Likely pathogenic
Select item 523395	NM_001039348.3(EFEMP1):c.1189T>C (p.Tyr397His)	EFEMP1 (Y397H)	Single nucleotide variant (missense variant)	Night blindness +4 more	GLikely pathogenic
Select item 497256	NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys)	CNGA3 (R427C +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GPathogenic
Select item 523394	NM_201548.5(CERKL):c.677+3A>G	CERKL	Single nucleotide variant (intron variant)	Severe photosensitivity +3 more	GLikely pathogenic
Select item 523351	NM_000283.4(PDE6B):c.546T>A (p.Asn182Lys)	PDE6B (N182K)	Single nucleotide variant (missense variant)	Macular dystrophy +1 more	GUncertain significance
Select item 16932	NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe)	CNGA1, LOC101927157 (S389F)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 560456	NM_001142800.2(EYS):c.1299+5_1299+8del	EYS	Microsatellite (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 523487	NM_005802.5(TOPORS):c.2666A>G (p.His889Arg)	TOPORS (H889R +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 31 +8 more	GUncertain significance
Select item 523253	GRCh37/hg19 16p11.2(chr16:28861531-29031059)	ATP2A1, CD19 +5 more	Copy number loss	Macular dystrophy +1 more	GPathogenic
Select item 65410	NM_001379500.1(COL18A1):c.3523_3524del (p.Leu1175fs)	COL18A1, SLC19A1 (L1352fs +2 more)	Deletion (frameshift variant)	not provided +4 more	GPathogenic