C0339527[trait identifier] AND "Rui Chen Lab, Baylor College of Medici - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 427864	NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser)	RPE65 (R446S)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenicFDA Recognized database
Select item 427868	NM_000329.3(RPE65):c.1101A>G (p.Arg367=)	RPE65	Single nucleotide variant (synonymous variant)	RPE65-related recessive retinopathy	GPathogenicFDA Recognized database
Select item 427863	NM_201253.3(CRB1):c.2842T>C (p.Cys948Arg)	CRB1 (C948R +2 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 12 +4 more	GPathogenic
Select item 216947	NM_002242.4(KCNJ13):c.458C>T (p.Thr153Ile)	GIGYF2, KCNJ13 (T153I +1 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 16 +1 more	GPathogenic/Likely pathogenic
Select item 427858	NM_000440.3(PDE6A):c.2027+5G>T	PDE6A	Single nucleotide variant (intron variant)	Leber congenital amaurosis	GPathogenic
Select item 427859	NM_001134831.2(AHI1):c.1912+5G>T	AHI1	Single nucleotide variant (intron variant)	Leber congenital amaurosis	GPathogenic
Select item 427860	NM_025114.4(CEP290):c.1910-11T>G	CEP290	Single nucleotide variant (intron variant)	Meckel syndrome, type 4 +1 more	GPathogenic
Select item 427865	NM_025114.4(CEP290):c.1623+5G>A	CEP290	Single nucleotide variant (intron variant)	Leber congenital amaurosis	GPathogenic
Select item 427869	NM_020366.4(RPGRIP1):c.564A>G (p.Glu188=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 425034	NM_020366.4(RPGRIP1):c.1611G>A (p.Gln537=)	RPGRIP1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 372988	NM_020366.4(RPGRIP1):c.3339+5G>A	RPGRIP1	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 427873	NM_018418.5(SPATA7):c.19G>A (p.Val7Ile)	LOC130056226, SPATA7 (V7I)	Single nucleotide variant (missense variant)	Leber congenital amaurosis	GPathogenic
Select item 427862	NM_018418.5(SPATA7):c.1215G>T (p.Glu405Asp)	SPATA7 (E405D +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis	GPathogenic
Select item 224333	NM_015041.3(CLUAP1):c.817C>T (p.Leu273Phe)	CLUAP1 (L273F +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis	GPathogenic
Select item 383962	NM_001080442.3(SLC38A8):c.388+5G>A	SLC38A8	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 427872	NM_006915.3(RP2):c.102G>A (p.Lys34=)	RP2	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 3 +1 more	GLikely pathogenic
Select item 427871	NM_006915.3(RP2):c.102+3A>C	RP2	Single nucleotide variant (intron variant)	Leber congenital amaurosis	GPathogenic