ClinVar for MedGen (Select 334168) - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1685416	NM_000322.5(PRPH2):c.535T>G (p.Trp179Gly)	PRPH2 (W179G)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 7 +1 more	GLikely pathogenic
Select item 1338784	NM_000322.5(PRPH2):c.809T>C (p.Leu270Pro)	PRPH2 (L270P)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 7	GUncertain significance
Select item 1175273	NM_000322.5(PRPH2):c.745G>A (p.Gly249Ser)	PRPH2 (G249S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 7	GUncertain significance
Select item 1076073	NM_000322.5(PRPH2):c.692C>G (p.Ser231Ter)	PRPH2 (S231*)	Single nucleotide variant (nonsense)	Patterned macular dystrophy 1 +3 more	GPathogenic/Likely pathogenic
Select item 1067264	NM_000322.5(PRPH2):c.625G>A (p.Val209Ile)	PRPH2 (V209I)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic
Select item 1048139	NM_000322.5(PRPH2):c.512T>G (p.Phe171Cys)	PRPH2 (F171C)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 7	GLikely pathogenic
Select item 960408	NM_000327.4(ROM1):c.339del (p.Leu114fs)	ROM1 (L114fs)	Deletion (frameshift variant)	Retinitis pigmentosa 7 +1 more	GUncertain significance
Select item 909080	NM_000322.5(PRPH2):c.483C>T (p.Ile161=)	PRPH2	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy +9 more	GBenign/Likely benign
Select item 812387	NM_000322.5(PRPH2):c.518A>C (p.Asp173Ala)	PRPH2 (D173A)	Single nucleotide variant (missense variant)	PRPH2-Related Disorders +1 more	GPathogenic/Likely pathogenic
Select item 498297	NM_000327.4(ROM1):c.167C>T (p.Ser56Phe)	ROM1 (S56F)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 7 +2 more	GUncertain significance
Select item 195063	NM_000327.4(ROM1):c.812T>C (p.Met271Thr)	ROM1 (M271T)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 167542	NM_000322.5(PRPH2):c.*13C>T	PRPH2	Single nucleotide variant (3 prime UTR variant)	Vitelliform macular dystrophy 3 +8 more	GBenign
Select item 138906	NM_000322.5(PRPH2):c.1013A>G (p.Asp338Gly)	PRPH2 (D338G)	Single nucleotide variant (missense variant)	Vitelliform macular dystrophy 3 +10 more	GBenign
Select item 138905	NM_000322.5(PRPH2):c.929G>A (p.Arg310Lys)	PRPH2 (R310K)	Single nucleotide variant (missense variant)	Vitelliform macular dystrophy 3 +11 more	GBenign
Select item 138904	NM_000322.5(PRPH2):c.910C>G (p.Gln304Glu)	PRPH2 (Q304E)	Single nucleotide variant (missense variant)	Vitelliform macular dystrophy 3 +10 more	GBenign
Select item 98720	NM_000322.5(PRPH2):c.920del (p.Leu307fs)	PRPH2 (L307fs)	Deletion (frameshift variant)	PRPH2-Related Disorders +1 more	GPathogenic
Select item 98709	NM_000322.5(PRPH2):c.797G>A (p.Gly266Asp)	PRPH2 (G266D)	Single nucleotide variant (missense variant)	PRPH2-Related Disorders +2 more	GPathogenic/Likely pathogenic
Select item 98697	NM_000322.5(PRPH2):c.656_658del (p.Pro219del)	PRPH2 (P219del)	Deletion (inframe_deletion)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 92846	NM_000322.5(PRPH2):c.318T>C (p.Val106=)	PRPH2	Single nucleotide variant (synonymous variant)	Vitelliform macular dystrophy 3 +10 more	GBenign
Select item 13181	NM_000322.5(PRPH2):c.518A>T (p.Asp173Val)	PRPH2 (D173V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 7 +1 more	GPathogenic/Likely pathogenic
Select item 13179	NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter)	PRPH2 (R46*)	Single nucleotide variant (nonsense)	PRPH2-Related Disorders +6 more	GPathogenic/Likely pathogenic
Select item 13178	NM_000322.5(PRPH2):c.458AGA[1] (p.Lys154del)	PRPH2 (K154del)	Microsatellite (inframe_deletion)	PRPH2-Related Disorders +2 more	GPathogenic
Select item 13172	NM_000322.5(PRPH2):c.732C>A (p.Asn244Lys)	PRPH2 (N244K)	Single nucleotide variant (missense variant)	Retinal dystrophy	GPathogenic
Select item 13170	NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp)	PRPH2 (R172W)	Single nucleotide variant (missense variant)	PRPH2-Related Disorders +9 more	GPathogenic/Likely pathogenic
Select item 13164	NM_000322.5(PRPH2):c.647C>T (p.Pro216Leu)	PRPH2 (P216L)	Single nucleotide variant (missense variant)	Patterned dystrophy of the retinal pigment epithelium +4 more	GPathogenic
Select item 13162	NM_000322.5(PRPH2):c.353GCT[1] (p.Cys119del)	PRPH2 (C119del)	Microsatellite (inframe_deletion)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 12998	NM_000327.4(ROM1):c.339dup (p.Leu114fs)	ROM1 (L114fs)	Duplication (frameshift variant)	not provided +3 more	GConflicting classifications of pathogenicity

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Items: 27