"Blueprint Genetics"[submitter] AND "RP2"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 866701	NM_006915.3(RP2):c.19A>C (p.Lys7Gln)	LOC130068202, RP2 (K7Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 866512	NM_006915.3(RP2):c.37A>T (p.Lys13Ter)	LOC130068202, RP2 (K13*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 867123	NM_006915.3(RP2):c.38A>T (p.Lys13Met)	LOC130068202, RP2 (K13M)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866340	NM_006915.3(RP2):c.122_128delinsGGA (p.Met41fs)	RP2 (M41fs)	Indel (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 865821	NM_006915.3(RP2):c.163G>A (p.Gly55Arg)	RP2 (G55R)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 866868	NM_006915.3(RP2):c.168_178del (p.Val57fs)	RP2 (V57fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 867039	NM_006915.3(RP2):c.178C>T (p.Gln60Ter)	RP2 (Q60*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 867051	NM_006915.3(RP2):c.324C>A (p.Cys108Ter)	RP2 (C108*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 437944	NM_006915.3(RP2):c.352C>T (p.Arg118Cys)	RP2 (R118C)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GPathogenic
Select item 10546	NM_006915.3(RP2):c.353G>A (p.Arg118His)	RP2 (R118H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 10551	NM_006915.3(RP2):c.358C>T (p.Arg120Ter)	RP2 (R120*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa +3 more	GPathogenic
Select item 866621	NM_006915.3(RP2):c.400C>T (p.Gln134Ter)	RP2 (Q134*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GPathogenic
Select item 860467	NM_006915.3(RP2):c.409_411del (p.Ile137del)	RP2 (I137del)	Deletion (inframe_deletion)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 865895	NM_006915.3(RP2):c.415T>C (p.Ser139Pro)	RP2 (S139P)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866013	NM_006915.3(RP2):c.566T>C (p.Leu189Pro)	RP2 (L189P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 866167	NM_006915.3(RP2):c.768G>C (p.Glu256Asp)	RP2 (E256D)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 866491	NM_006915.3(RP2):c.768+1G>C	RP2	Single nucleotide variant (splice donor variant)	Retinal dystrophy	GLikely pathogenic
Select item 866565	NM_006915.3(RP2):c.774_777del (p.Gly259fs)	RP2 (G259fs)	Microsatellite (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 803988	NM_006915.3(RP2):c.884-14G>A	RP2	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 866273	NM_006915.3(RP2):c.884-1G>A	RP2	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic

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Items: 20