C1845667[trait identifier] AND "Mendelics"[submitter] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1685426	NM_001034853.2(RPGR):c.3200_3218dup (p.Glu1075fs)	RPGR (E1075fs)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa 3	GLikely pathogenic
Select item 1686130	NM_001034853.2(RPGR):c.3184G>T (p.Glu1062Ter)	RPGR (E1062*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 3	GPathogenic/Likely pathogenic
Select item 803964	NM_001034853.2(RPGR):c.3104_3105del (p.Glu1035fs)	RPGR (E1035fs)	Microsatellite (frameshift variant +1 more)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 9911	NM_001034853.2(RPGR):c.3092_3093del (p.Glu1031fs)	RPGR (E1031fs)	Microsatellite (frameshift variant +1 more)	Retinitis pigmentosa 3 +4 more	GPathogenic
Select item 1686131	NM_001034853.2(RPGR):c.2522_2525dup (p.Glu843fs)	RPGR (E843fs)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa 3	GPathogenic
Select item 1686132	NM_001034853.2(RPGR):c.2470G>T (p.Gly824Ter)	RPGR (G824*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 3	GPathogenic
Select item 1275779	NM_001034853.2(RPGR):c.2218G>T (p.Glu740Ter)	RPGR (E740*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 3 +2 more	GPathogenic
Select item 1685427	NM_001034853.2(RPGR):c.2140G>T (p.Glu714Ter)	RPGR (E714*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 3	GLikely pathogenic
Select item 1685428	NM_001034853.2(RPGR):c.29-2A>G	RPGR	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 3	GLikely pathogenic
Select item 427872	NM_006915.3(RP2):c.102G>A (p.Lys34=)	RP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely pathogenic
Select item 803987	NM_006915.3(RP2):c.158del (p.Leu53fs)	RP2 (L53fs)	Deletion (frameshift variant)	Retinitis pigmentosa 3	GPathogenic
Select item 195270	NM_006915.3(RP2):c.260C>T (p.Thr87Ile)	RP2 (T87I)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 803988	NM_006915.3(RP2):c.884-14G>A	RP2	Single nucleotide variant (intron variant)	Retinitis pigmentosa 3 +3 more	GConflicting classifications of pathogenicity
Select item 803989	NM_006915.3(RP2):c.932del (p.Cys311fs)	RP2 (C311fs)	Deletion (frameshift variant)	Retinitis pigmentosa 3	GPathogenic