"Clinical Genetics, Academic Medical Center"[submitter] AND "RPGRIP1"[ - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 195356	NM_020366.4(RPGRIP1):c.95T>A (p.Met32Lys)	RPGRIP1 (M32K)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +2 more	GConflicting classifications of pathogenicity
Select item 283572	NM_020366.4(RPGRIP1):c.450C>G (p.Leu150=)	RPGRIP1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 841666	NM_020366.4(RPGRIP1):c.491-3T>C	RPGRIP1	Single nucleotide variant (intron variant)	RPGRIP1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 4987	NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser)	RPGRIP1 (A547S +2 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 1 +4 more	GBenign/Likely benign
Select item 283795	NM_020366.4(RPGRIP1):c.1753C>T (p.Pro585Ser)	RPGRIP1 (P585S +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1284419	NM_020366.4(RPGRIP1):c.1948C>T (p.Pro650Ser)	RPGRIP1 (P292S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 285038	NM_020366.4(RPGRIP1):c.2284C>T (p.Leu762=)	RPGRIP1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 6 +4 more	GConflicting classifications of pathogenicity
Select item 1142641	NM_020366.4(RPGRIP1):c.2397C>T (p.Asn799=)	RPGRIP1	Single nucleotide variant (synonymous variant +1 more)	Cone-rod dystrophy 13 +1 more	GLikely benign
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 1085084	NM_020366.4(RPGRIP1):c.2711-13G>T	RPGRIP1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 767015	NM_020366.4(RPGRIP1):c.3171C>T (p.His1057=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 6 +1 more	GConflicting classifications of pathogenicity
Select item 4988	NM_020366.4(RPGRIP1):c.3341A>G (p.Asp1114Gly)	RPGRIP1 (D1114G +4 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +3 more	GBenign/Likely benign
Select item 100589	NM_020366.4(RPGRIP1):c.3358A>G (p.Ile1120Val)	RPGRIP1 (I1120V +4 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance