ClinVar (all) for Orgtrack (Select 506853) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1701091	NM_013242.3(CFAP20):c.457A>G (p.Arg153Gly)	CFAP20 (R153G)	Single nucleotide variant (missense variant +1 more)	Rod-cone dystrophy	GLikely pathogenic
Select item 1701090	NM_013242.3(CFAP20):c.164+1G>A	CFAP20	Single nucleotide variant (splice donor variant)	Rod-cone dystrophy	GLikely pathogenic
Select item 1701089	NM_013242.3(CFAP20):c.397del (p.Gln133fs)	CFAP20 (Q133fs)	Deletion (frameshift variant +1 more)	Rod-cone dystrophy	GLikely pathogenic
Select item 1701088	NM_013242.3(CFAP20):c.257A>G (p.Tyr86Cys)	CFAP20 (Y86C)	Single nucleotide variant (missense variant +1 more)	Rod-cone dystrophy	GLikely pathogenic
Select item 1701087	NM_013242.3(CFAP20):c.305G>A (p.Arg102His)	CFAP20 (R102H)	Single nucleotide variant (missense variant +1 more)	Rod-cone dystrophy	GLikely pathogenic
Select item 1334470	NM_013242.3(CFAP20):c.337C>T (p.Arg113Trp)	CFAP20 (R113W)	Single nucleotide variant (missense variant +1 more)	Rod-cone dystrophy	GUncertain significance
Select item 988806	NM_001080442.3(SLC38A8):c.632+1G>A	SLC38A8	Single nucleotide variant (splice donor variant)	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome	GPathogenic
Select item 988805	NM_001080442.3(SLC38A8):c.435G>A (p.Trp145Ter)	SLC38A8 (W145*)	Single nucleotide variant (nonsense)	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome	GPathogenic
Select item 988804	NM_001080442.3(SLC38A8):c.698A>G (p.Glu233Gly)	SLC38A8 (E233G)	Single nucleotide variant (missense variant)	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome	GLikely pathogenic
Select item 988803	NM_001080442.3(SLC38A8):c.264C>G (p.Tyr88Ter)	SLC38A8 (Y88*)	Single nucleotide variant (nonsense)	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome +1 more	GPathogenic/Likely pathogenic
Select item 974596	NM_152419.3(HGSNAT):c.1708del (p.Thr570fs)	HGSNAT (T282fs +3 more)	Deletion (frameshift variant)	Retinitis pigmentosa 73	GLikely pathogenic
Select item 974595	NM_152419.3(HGSNAT):c.1543-2A>C	HGSNAT	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 73	GPathogenic
Select item 974594	NM_152419.3(HGSNAT):c.1283T>G (p.Phe428Cys)	HGSNAT (F140C +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-C +2 more	GUncertain significance
Select item 974593	NM_152419.3(HGSNAT):c.1252G>C (p.Gly418Arg)	HGSNAT (G130R +2 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 73	GLikely pathogenic
Select item 974592	NM_152419.3(HGSNAT):c.743G>C (p.Gly248Ala)	HGSNAT (G248A)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GUncertain significance
Select item 972000	NM_152419.3(HGSNAT):c.715C>T (p.Arg239Cys)	HGSNAT (R239C)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 918132	NM_152419.3(HGSNAT):c.1271dup (p.Ile425fs)	HGSNAT (I361fs +2 more)	Duplication (frameshift variant)	Mucopolysaccharidosis, MPS-III-C +2 more	GPathogenic/Likely pathogenic
Select item 840384	NM_152419.3(HGSNAT):c.887C>T (p.Ser296Leu)	HGSNAT (S296L +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-C +2 more	GUncertain significance
Select item 626250	NM_000322.5(PRPH2):c.523T>G (p.Phe175Val)	PRPH2 (F175V)	Single nucleotide variant (missense variant)	Patterned macular dystrophy 1	GUncertain significance
Select item 625875	NC_000006.12:g.99598928T>C	LOC111365204	Single nucleotide variant	Progressive bifocal chorioretinal atrophy	GPathogenic
Select item 625874	NC_000006.12:g.99598907A>C	LOC111365204	Single nucleotide variant	North Carolina macular dystrophy +1 more	GPathogenic

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Items: 21