57096[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57743	GRCh38/hg38 14q11.2(chr14:19755249-22741281)x1	ABHD4, ANG +312 more	Copy number loss	See cases	GPathogenic
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 59933	GRCh38/hg38 14q11.2(chr14:20127290-21376436)x3	ANG, APEX1 +119 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 57246	GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3	ABHD4, ACIN1 +399 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 57746	GRCh38/hg38 14q11.2(chr14:20475357-21613255)x1	ANG, ARHGEF40 +108 more	Copy number loss	See cases	GPathogenic
Select item 57747	GRCh38/hg38 14q11.2(chr14:20908863-21576473)x1	ARHGEF40, CHD8 +48 more	Copy number loss	See cases	GPathogenic
Select item 152232	GRCh38/hg38 14q11.2(chr14:21010790-22951814)x3	ABHD4, ARHGEF40 +242 more	Copy number gain	See cases	GUncertain significance
Select item 150080	GRCh38/hg38 14q11.2(chr14:21038933-21428431)x3	ARHGEF40, CHD8 +22 more	Copy number gain	See cases	GUncertain significance
Select item 58305	GRCh38/hg38 14q11.2(chr14:21058251-21384204)x3	ARHGEF40, HNRNPC +17 more	Copy number gain	See cases	GUncertain significance
Select item 57748	GRCh38/hg38 14q11.2(chr14:21224511-21455608)x1	CHD8, HNRNPC +8 more	Copy number loss	See cases	GPathogenic
Select item 2579253	GRCh38/hg38 14q11.2(chr14:21287774-21294830)x3	RPGRIP1	Copy number gain	Cone-rod dystrophy 13	GLikely pathogenic
Select item 1353125	NM_020366.4(RPGRIP1):c.8A>G (p.His3Arg)	RPGRIP1 (H3R)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 1006144	NM_020366.4(RPGRIP1):c.10C>A (p.Leu4Met)	RPGRIP1 (L4M)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 1069749	NM_020366.4(RPGRIP1):c.14_29dup (p.Asp11fs)	RPGRIP1 (D11fs)	Duplication (frameshift variant)	Cone-rod dystrophy 13 +1 more	GPathogenic
Select item 2022177	NM_020366.4(RPGRIP1):c.12G>A (p.Leu4=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 13 +1 more	GLikely benign
Select item 2941042	NM_020366.4(RPGRIP1):c.24dup (p.Ser9fs)	RPGRIP1 (S9fs)	Duplication (frameshift variant)	Leber congenital amaurosis 6 +1 more	GPathogenic
Select item 1414241	NM_020366.4(RPGRIP1):c.29G>A (p.Gly10Glu)	RPGRIP1 (G10E)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +2 more	GConflicting classifications of pathogenicity
Select item 1085180	NM_020366.4(RPGRIP1):c.39A>G (p.Pro13=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 312779	NM_020366.4(RPGRIP1):c.50T>C (p.Ile17Thr)	RPGRIP1 (I17T)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +2 more	GConflicting classifications of pathogenicity
Select item 1976789	NM_020366.4(RPGRIP1):c.54T>C (p.Asp18=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 13 +1 more	GLikely benign
Select item 1025344	NM_020366.4(RPGRIP1):c.61C>T (p.Pro21Ser)	RPGRIP1 (P21S)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 498002	NM_020366.4(RPGRIP1):c.74C>T (p.Pro25Leu)	RPGRIP1 (P25L)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +2 more	GConflicting classifications of pathogenicity
Select item 2192093	NM_020366.4(RPGRIP1):c.75A>G (p.Pro25=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 881317	NM_020366.4(RPGRIP1):c.77C>T (p.Ala26Val)	RPGRIP1 (A26V)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 1042449	NM_020366.4(RPGRIP1):c.80C>T (p.Ser27Leu)	RPGRIP1 (S27L)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 1005094	NM_020366.4(RPGRIP1):c.85G>A (p.Gly29Ser)	RPGRIP1 (G29S)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 807063	NM_020366.4(RPGRIP1):c.85+5C>A	RPGRIP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2081739	NM_020366.4(RPGRIP1):c.85+11C>T	RPGRIP1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 2127745	NM_020366.4(RPGRIP1):c.85+12G>T	RPGRIP1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 1152241	NM_020366.4(RPGRIP1):c.85+12G>A	RPGRIP1	Single nucleotide variant (intron variant)	Cone-rod dystrophy 13 +1 more	GLikely benign
Select item 1513197	NM_020366.4(RPGRIP1):c.85+20A>T	RPGRIP1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 1271407	NM_020366.4(RPGRIP1):c.86-265T>C	RPGRIP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1166242	NM_020366.4(RPGRIP1):c.86-20A>T	RPGRIP1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 6 +1 more	GBenign
Select item 1471351	NM_020366.4(RPGRIP1):c.86-1G>A	RPGRIP1	Single nucleotide variant (splice acceptor variant)	Cone-rod dystrophy 13 +1 more	GLikely pathogenic
Select item 1699054	NM_020366.4(RPGRIP1):c.94A>G (p.Met32Val)	RPGRIP1 (M32V)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6	GUncertain significance
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 1910268	NM_020366.4(RPGRIP1):c.99A>G (p.Lys33=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 1370442	NM_020366.4(RPGRIP1):c.107C>A (p.Pro36Gln)	RPGRIP1 (P36Q)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 2281152	NM_020366.4(RPGRIP1):c.110C>A (p.Pro37His)	RPGRIP1 (P37H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2165199	NM_020366.4(RPGRIP1):c.111C>A (p.Pro37=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 881764	NM_020366.4(RPGRIP1):c.116G>A (p.Ser39Asn)	RPGRIP1 (S39N)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +2 more	GUncertain significance
Select item 1061130	NM_020366.4(RPGRIP1):c.127C>G (p.Arg43Gly)	RPGRIP1 (R43G)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 881765	NM_020366.4(RPGRIP1):c.127C>T (p.Arg43Trp)	RPGRIP1 (R43W)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +2 more	GUncertain significance
Select item 853730	NM_020366.4(RPGRIP1):c.128G>A (p.Arg43Gln)	RPGRIP1 (R43Q)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 498753	NM_020366.4(RPGRIP1):c.128G>C (p.Arg43Pro)	RPGRIP1 (R43P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2929275	NM_020366.4(RPGRIP1):c.136T>C (p.Leu46=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 2086031	NM_020366.4(RPGRIP1):c.137T>C (p.Leu46Ser)	RPGRIP1 (L46S)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 1922064	NM_020366.4(RPGRIP1):c.138GGA[1] (p.Glu47del)	RPGRIP1 (E47del)	Microsatellite (inframe_deletion)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 1472511	NM_020366.4(RPGRIP1):c.140A>G (p.Glu47Gly)	RPGRIP1 (E47G)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 2152439	NM_020366.4(RPGRIP1):c.141G>A (p.Glu47=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 1133472	NM_020366.4(RPGRIP1):c.153T>C (p.Phe51=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 13 +1 more	GLikely benign
Select item 195355	NM_020366.4(RPGRIP1):c.154C>T (p.Arg52Ter)	RPGRIP1 (R52*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1389675	NM_020366.4(RPGRIP1):c.155G>A (p.Arg52Gln)	RPGRIP1 (R52Q)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +2 more	GUncertain significance
Select item 167604	NM_020366.4(RPGRIP1):c.161G>A (p.Arg54His)	RPGRIP1 (R54H)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +2 more	GUncertain significance
Select item 1673689	NM_020366.4(RPGRIP1):c.162C>T (p.Arg54=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 13 +1 more	GLikely benign
Select item 847799	NM_020366.4(RPGRIP1):c.163G>A (p.Glu55Lys)	RPGRIP1 (E55K)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 2941811	NM_020366.4(RPGRIP1):c.172_173del (p.Met58fs)	RPGRIP1 (M58fs)	Deletion (frameshift variant)	Cone-rod dystrophy 13 +1 more	GPathogenic
Select item 1904111	NM_020366.4(RPGRIP1):c.172A>G (p.Met58Val)	RPGRIP1 (M58V)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 840315	NM_020366.4(RPGRIP1):c.173T>C (p.Met58Thr)	RPGRIP1 (M58T)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 2161619	NM_020366.4(RPGRIP1):c.181A>G (p.Lys61Glu)	RPGRIP1 (K61E)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 1424140	NM_020366.4(RPGRIP1):c.182A>G (p.Lys61Arg)	RPGRIP1 (K61R)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 1052595	NM_020366.4(RPGRIP1):c.184G>A (p.Glu62Lys)	RPGRIP1 (E62K)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 1088419	NM_020366.4(RPGRIP1):c.189T>C (p.Leu63=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 1030704	NM_020366.4(RPGRIP1):c.191C>T (p.Ser64Phe)	RPGRIP1 (S64F)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13	GUncertain significance
Select item 4983	NM_020366.4(RPGRIP1):c.194G>A (p.Trp65Ter)	RPGRIP1 (W65*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis +1 more	GPathogenic
Select item 99813	NM_020366.4(RPGRIP1):c.195G>A (p.Trp65Ter)	RPGRIP1 (W65*)	Single nucleotide variant (nonsense)	not provided	Gnot provided
Select item 1014811	NM_020366.4(RPGRIP1):c.203A>G (p.Gln68Arg)	RPGRIP1 (Q68R)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 1509729	NM_020366.4(RPGRIP1):c.218+1G>T	RPGRIP1	Single nucleotide variant (splice donor variant)	Leber congenital amaurosis 6 +1 more	GLikely pathogenic
Select item 2582916	NM_020366.4(RPGRIP1):c.218+2T>A	RPGRIP1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1141293	NM_020366.4(RPGRIP1):c.218+7dup	RPGRIP1	Duplication (intron variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 963379	NM_020366.4(RPGRIP1):c.218+6T>C	RPGRIP1	Single nucleotide variant (intron variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 2933537	NM_020366.4(RPGRIP1):c.218+9A>G	RPGRIP1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 312780	NM_020366.4(RPGRIP1):c.218+13C>G	RPGRIP1	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1214578	NM_020366.4(RPGRIP1):c.218+51_218+53dup	RPGRIP1	Duplication (intron variant)	not provided	GLikely benign
Select item 2644057	NM_020366.4(RPGRIP1):c.218+40_218+53del	RPGRIP1	Deletion (intron variant)	not provided	GBenign
Select item 1289309	NM_020366.4(RPGRIP1):c.218+44_218+53del	RPGRIP1	Deletion (intron variant)	not provided	GBenign
Select item 1271992	NM_020366.4(RPGRIP1):c.218+45_218+53del	RPGRIP1	Deletion (intron variant)	not provided	GBenign
Select item 1253930	NM_020366.4(RPGRIP1):c.218+47_218+53del	RPGRIP1	Deletion (intron variant)	not provided	GBenign
Select item 1252923	NM_020366.4(RPGRIP1):c.218+46_218+53del	RPGRIP1	Deletion (intron variant)	not provided	GBenign
Select item 1194529	NM_020366.4(RPGRIP1):c.218+43_218+53del	RPGRIP1	Deletion (intron variant)	not provided	GLikely benign
Select item 1545099	NM_020366.4(RPGRIP1):c.219-17G>T	RPGRIP1	Single nucleotide variant (intron variant)	Cone-rod dystrophy 13 +1 more	GLikely benign
Select item 1556345	NM_020366.4(RPGRIP1):c.219-16C>T	RPGRIP1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 1110604	NM_020366.4(RPGRIP1):c.219-4A>G	RPGRIP1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 962259	NM_020366.4(RPGRIP1):c.219-2A>G	RPGRIP1	Single nucleotide variant (splice acceptor variant)	Leber congenital amaurosis 6 +1 more	GLikely pathogenic
Select item 2065139	NM_020366.4(RPGRIP1):c.238C>G (p.Arg80Gly)	RPGRIP1 (R80G)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 1595265	NM_020366.4(RPGRIP1):c.240G>A (p.Arg80=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 13 +1 more	GLikely benign
Select item 1896108	NM_020366.4(RPGRIP1):c.245C>T (p.Thr82Ile)	RPGRIP1 (T82I)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 99816	NM_020366.4(RPGRIP1):c.256C>T (p.Arg86Trp)	RPGRIP1 (R86W)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 882914	NM_020366.4(RPGRIP1):c.262C>T (p.Leu88=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 2421965	NM_020366.4(RPGRIP1):c.265C>A (p.Arg89=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 13 +1 more	GLikely benign
Select item 2085236	NM_020366.4(RPGRIP1):c.266G>A (p.Arg89Gln)	RPGRIP1 (R89Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1445271	NM_020366.4(RPGRIP1):c.267G>A (p.Arg89=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 13 +1 more	GLikely benign
Select item 374686	NM_020366.4(RPGRIP1):c.268G>A (p.Val90Ile)	RPGRIP1 (V90I)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +3 more	GConflicting classifications of pathogenicity
Select item 2115634	NM_020366.4(RPGRIP1):c.270C>G (p.Val90=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 13 +1 more	GLikely benign

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