"Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 256383	NM_000539.3(RHO):c.-26A>G	RHO	Single nucleotide variant (5 prime UTR variant)	not provided +5 more	GBenign
Select item 13042	NM_000539.3(RHO):c.44A>G (p.Asn15Ser)	RHO (N15S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1284434	NM_000539.3(RHO):c.84G>T (p.Gln28His)	RHO (Q28H)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 193112	NM_000539.3(RHO):c.360C>T (p.Gly120=)	RHO	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 196282	NM_000539.3(RHO):c.541G>A (p.Glu181Lys)	RHO (E181K)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 13023	NM_000539.3(RHO):c.568G>A (p.Asp190Asn)	RHO (D190N)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 13026	NM_000539.3(RHO):c.569A>G (p.Asp190Gly)	RHO (D190G)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 1284774	NM_000539.3(RHO):c.937-6T>A	RHO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1297611	NM_000539.3(RHO):c.937-2A>C	RHO	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic/Likely pathogenic
Select item 1284597	NM_000539.3(RHO):c.941G>A (p.Arg314Gln)	RHO (R314Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 813212	NM_000539.3(RHO):c.1032G>C (p.Gln344His)	RHO (Q344H)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity