Related gene-specific medical variations for Gene (Select 57096) - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243983	NC_000014.8:g.(?_21766946)_(21770647_?)del	RPGRIP1	Deletion	Leber congenital amaurosis 6 +1 more	GLikely pathogenic
Select item 3243982	NC_000014.8:g.(?_21792757)_(21819375_?)dup	RPGRIP1	Duplication	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 3243981	NC_000014.8:g.(?_21756136)_(21780685_?)dup	RPGRIP1	Duplication	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 3243980	NC_000014.8:g.(?_21762977)_(21770303_?)del	RPGRIP1	Deletion	Leber congenital amaurosis 6 +1 more	GPathogenic
Select item 3243979	NC_000014.8:g.(?_21793972)_(21794928_?)del	RPGRIP1	Deletion	Leber congenital amaurosis 6 +1 more	GPathogenic
Select item 3243978	NC_000014.8:g.(?_21785835)_(21786029_?)del	RPGRIP1	Deletion	Leber congenital amaurosis 6 +1 more	GPathogenic
Select item 3064867	NM_020366.4(RPGRIP1):c.487del (p.Arg163fs)	RPGRIP1 (R163fs)	Deletion (frameshift variant)	Leber congenital amaurosis 6	GLikely pathogenic
Select item 2574659	NM_020366.4:c.1077+1_3100-1dup	RPGRIP1	Duplication	Leber congenital amaurosis 6	GUncertain significance
Select item 2500161	NM_020366.4(RPGRIP1):c.337C>G (p.Leu113Val)	RPGRIP1 (L113V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 2500154	NM_020366.4(RPGRIP1):c.2669G>C (p.Arg890Pro)	RPGRIP1 (R532P +1 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 2435470	NM_020366.4(RPGRIP1):c.800G>T (p.Arg267Leu)	RPGRIP1 (R267L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435469	NM_020366.4(RPGRIP1):c.473C>G (p.Pro158Arg)	RPGRIP1 (P158R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2431544	NC_000014.9:g.(21329937_21330486)del	RPGRIP1	Deletion	Cone-rod dystrophy 13	GPathogenic
Select item 1325014	NM_020366.4(RPGRIP1):c.2640dup (p.Glu881fs)	RPGRIP1 (E523fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 982546	NM_020366.4(RPGRIP1):c.2212_2215+21del	RPGRIP1	Deletion (splice donor variant +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 982545	NM_020366.4(RPGRIP1):c.2079C>G (p.Tyr693Ter)	RPGRIP1 (Y335* +1 more)	Single nucleotide variant (nonsense +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 981919	NM_020366.3:c.(930+1_931-1)_(1151+1_1152-1)del	RPGRIP1	Deletion	Leber congenital amaurosis 6	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 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 866333	NM_020366.4(RPGRIP1):c.1773dup (p.Asp592fs)	RPGRIP1 (D234fs +1 more)	Duplication (frameshift variant +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 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 813234	NM_020366.4(RPGRIP1):c.2432T>A (p.Leu811His)	RPGRIP1 (L811H +1 more)	Single nucleotide variant (missense variant +1 more)	Cone dystrophy	GPathogenic
Select item 811225	NM_020366.4(RPGRIP1):c.1965C>T (p.Thr655=)	RPGRIP1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 522702	NM_020366.4(RPGRIP1):c.3467_3468insCT (p.Thr1156_Glu1157insTer)	RPGRIP1	Insertion (frameshift variant)	Leber congenital amaurosis 6	GPathogenic
Select item 375227	NM_020366.3(RPGRIP1):c.(3099+1_3100-1)_(3238+1_3239-1)del	RPGRIP1	Deletion	Retinal dystrophy	GLikely pathogenic
Select item 99822	NM_020366.4(RPGRIP1):c.3628_3629insG (p.Thr1210fs)	RPGRIP1 (T1210fs +4 more)	Insertion (frameshift variant)	not provided	Gnot provided
Select item 99818	NM_020366.4(RPGRIP1):c.2760dup (p.Val921fs)	RPGRIP1 (V921fs +4 more)	Duplication (frameshift variant)	not provided	Gnot provided
Select item 99817	NM_020366.4(RPGRIP1):c.2627A>G (p.Asp876Gly)	RPGRIP1 (D876G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 99815	NM_020366.4(RPGRIP1):c.2565_2566insTT (p.Leu856fs)	RPGRIP1 (L856fs +1 more)	Insertion (frameshift variant +1 more)	not provided	Gnot provided
Select item 99813	NM_020366.4(RPGRIP1):c.195G>A (p.Trp65Ter)	RPGRIP1 (W65*)	Single nucleotide variant (nonsense)	not provided	Gnot provided
Select item 99811	NM_020366.4(RPGRIP1):c.1707T>G (p.Asn569Lys)	RPGRIP1 (N569K +2 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 99810	NM_020366.4(RPGRIP1):c.1525C>T (p.Gln509Ter)	RPGRIP1 (Q509* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	Gnot provided

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Links from Gene

Items: 33