"Blueprint Genetics"[submitter] AND "RPGRIP1"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 623224	NM_020366.4(RPGRIP1):c.673del (p.His225fs)	RPGRIP1 (H225fs)	Deletion (frameshift variant)	Leber congenital amaurosis 6 +2 more	GPathogenic/Likely pathogenic
Select item 866333	NM_020366.4(RPGRIP1):c.1773dup (p.Asp592fs)	RPGRIP1 (D234fs +1 more)	Duplication (frameshift variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 834237	NM_020366.4(RPGRIP1):c.1892A>G (p.His631Arg)	RPGRIP1 (H273R +1 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 13 +2 more	GPathogenic
Select item 867141	NM_020366.4(RPGRIP1):c.1909C>G (p.Leu637Val)	RPGRIP1 (L279V +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 866000	NM_020366.4(RPGRIP1):c.2230G>T (p.Glu744Ter)	RPGRIP1 (E744* +1 more)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 866598	NM_020366.4(RPGRIP1):c.2406G>A (p.Trp802Ter)	RPGRIP1 (W444* +1 more)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 866312	NM_020366.4(RPGRIP1):c.2431C>T (p.Leu811Phe)	RPGRIP1 (L811F +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 865870	NM_020366.4(RPGRIP1):c.2441del (p.Arg814fs)	RPGRIP1 (R456fs +1 more)	Deletion (frameshift variant +1 more)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 857229	NM_020366.4(RPGRIP1):c.2465_2468dup (p.Ala824fs)	RPGRIP1 (A824fs +1 more)	Duplication (frameshift variant +1 more)	Cone-rod dystrophy 13 +2 more	GPathogenic/Likely pathogenic
Select item 501219	NM_020366.4(RPGRIP1):c.2554C>T (p.Arg852Ter)	RPGRIP1 (R852* +1 more)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 560506	NM_020366.4(RPGRIP1):c.2718dup (p.Asn907Ter)	RPGRIP1 (N907* +4 more)	Duplication (nonsense)	Leber congenital amaurosis 6 +3 more	GPathogenic/Likely pathogenic
Select item 866687	NM_020366.4(RPGRIP1):c.2794C>G (p.Pro932Ala)	RPGRIP1 (P294A +4 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GUncertain significance
Select item 814005	NM_020366.4(RPGRIP1):c.3618-1_3621del	RPGRIP1	Deletion (splice acceptor variant)	Cone-rod dystrophy 13 +2 more	GPathogenic/Likely pathogenic