RTN4IP1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996786, LOC129996787 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 more	Copy number loss	See cases	GPathogenic
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC126859762, LOC126859763 +460 more	Copy number loss	See cases	GPathogenic
Select item 145430	GRCh38/hg38 6q16.3-21(chr6:102356502-111049879)x1	AFG1L, AK9 +208 more	Copy number loss	See cases	GPathogenic
Select item 154178	GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)x1	AFG1L, AK9 +297 more	Copy number loss	See cases	GPathogenic
Select item 155190	GRCh38/hg38 6q21(chr6:105833853-106582592)x3	ATG5, CRYBG1 +23 more	Copy number gain	See cases	GUncertain significance
Select item 155040	GRCh38/hg38 6q21(chr6:105922825-106683920)x3	ATG5, CRYBG1 +25 more	Copy number gain	See cases	GUncertain significance
Select item 59524	GRCh38/hg38 6q21(chr6:106143607-106716817)x3	ATG5, CRYBG1 +20 more	Copy number gain	See cases	GUncertain significance
Select item 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	See cases	GPathogenic
Select item 916131	NC_000006.12:g.106539151_106629957del	LOC129389600, LOC129996910 +5 more	Deletion	Macrocephaly +3 more	GUncertain significance
Select item 2579180	GRCh38/hg38 6q21(chr6:106539306-106649299)x1	CRYBG1, LOC123775393 +5 more	Copy number loss	Optic atrophy 10 with or without ataxia, intellectual disability, and seizures	GLikely pathogenic
Select item 1228467	NM_001371242.2(CRYBG1):c.*3194A>G	CRYBG1, RTN4IP1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1238463	NM_001371242.2(CRYBG1):c.*3220T>C	CRYBG1, RTN4IP1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1267192	NM_001371242.2(CRYBG1):c.*3225A>G	CRYBG1, RTN4IP1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2135596	NM_032730.5(RTN4IP1):c.1188T>C (p.Val396=)	CRYBG1, RTN4IP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1168414	NM_032730.5(RTN4IP1):c.1182T>C (p.Asn394=)	CRYBG1, RTN4IP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2656809	NM_032730.5(RTN4IP1):c.1173T>G (p.Thr391=)	CRYBG1, RTN4IP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2309935	NM_032730.5(RTN4IP1):c.1163G>A (p.Arg388Gln)	RTN4IP1 (R288Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1034720	NM_032730.5(RTN4IP1):c.1162C>T (p.Arg388Ter)	RTN4IP1 (R388* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1941021	NM_032730.5(RTN4IP1):c.1159G>A (p.Ala387Thr)	RTN4IP1 (A287T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1917167	NM_032730.5(RTN4IP1):c.1158C>T (p.His386=)	RTN4IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 966267	NM_032730.5(RTN4IP1):c.1154G>A (p.Gly385Glu)	RTN4IP1 (G285E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1055298	NM_032730.5(RTN4IP1):c.1120A>G (p.Lys374Glu)	RTN4IP1 (K274E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1025613	NM_032730.5(RTN4IP1):c.1116T>G (p.Phe372Leu)	RTN4IP1 (F272L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2154391	NM_032730.5(RTN4IP1):c.1112C>A (p.Pro371His)	RTN4IP1 (P271H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1540279	NM_032730.5(RTN4IP1):c.1095T>A (p.Val365=)	RTN4IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 704000	NM_032730.5(RTN4IP1):c.1094T>C (p.Val365Ala)	RTN4IP1 (V265A +1 more)	Single nucleotide variant (missense variant)	RTN4IP1-related disorder +1 more	GLikely benign
Select item 1947294	NM_032730.5(RTN4IP1):c.1089G>T (p.Arg363=)	RTN4IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1364521	NM_032730.5(RTN4IP1):c.1088G>A (p.Arg363Gln)	RTN4IP1 (R263Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1431345	NM_032730.5(RTN4IP1):c.1087C>T (p.Arg363Trp)	RTN4IP1 (R363W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 767005	NM_032730.5(RTN4IP1):c.1086C>T (p.Ile362=)	RTN4IP1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 985722	NM_032730.5(RTN4IP1):c.1084A>T (p.Ile362Phe)	RTN4IP1 (I262F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1622538	NM_032730.5(RTN4IP1):c.1084-10T>C	RTN4IP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1168415	NM_032730.5(RTN4IP1):c.1084-16C>A	RTN4IP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1666963	NM_032730.5(RTN4IP1):c.1084-19A>C	RTN4IP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1278589	NM_032730.5(RTN4IP1):c.1084-110T>C	RTN4IP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276868	NM_032730.5(RTN4IP1):c.1084-114C>T	RTN4IP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283009	NM_032730.5(RTN4IP1):c.1084-211G>A	RTN4IP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236393	NM_032730.5(RTN4IP1):c.1084-232_1084-230del	RTN4IP1	Microsatellite (intron variant)	not provided	GBenign
Select item 1014331	NM_032730.5(RTN4IP1):c.1083+5G>A	RTN4IP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1915184	NM_032730.5(RTN4IP1):c.1083+4C>T	RTN4IP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2108257	NM_032730.5(RTN4IP1):c.1083+3A>C	RTN4IP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 840561	NM_032730.5(RTN4IP1):c.1083+2T>C	RTN4IP1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1415781	NM_032730.5(RTN4IP1):c.1077G>A (p.Ala359=)	RTN4IP1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1402076	NM_032730.5(RTN4IP1):c.1076C>T (p.Ala359Val)	RTN4IP1 (A259V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1152804	NM_032730.5(RTN4IP1):c.1073A>T (p.Asp358Val)	RTN4IP1 (D258V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1611332	NM_032730.5(RTN4IP1):c.1071G>A (p.Val357=)	RTN4IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2804911	NM_032730.5(RTN4IP1):c.1063G>T (p.Glu355Ter)	RTN4IP1 (E355* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2656810	NM_032730.5(RTN4IP1):c.1059T>C (p.Ile353=)	RTN4IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2040356	NM_032730.5(RTN4IP1):c.1055A>C (p.Asp352Ala)	RTN4IP1 (D252A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1017622	NM_032730.5(RTN4IP1):c.1054G>A (p.Asp352Asn)	RTN4IP1 (D252N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1487003	NM_032730.5(RTN4IP1):c.1052A>C (p.Asp351Ala)	RTN4IP1 (D351A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1167794	NM_032730.5(RTN4IP1):c.1050A>G (p.Leu350=)	RTN4IP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1054741	NM_032730.5(RTN4IP1):c.1045T>C (p.Cys349Arg)	RTN4IP1 (C249R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1104434	NM_032730.5(RTN4IP1):c.1044A>G (p.Pro348=)	RTN4IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1110825	NM_032730.5(RTN4IP1):c.1041C>T (p.Gly347=)	RTN4IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1418236	NM_032730.5(RTN4IP1):c.1034C>T (p.Ala345Val)	RTN4IP1 (A345V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2197190	NM_032730.5(RTN4IP1):c.1033G>C (p.Ala345Pro)	RTN4IP1 (A245P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2200525	NM_032730.5(RTN4IP1):c.1032G>A (p.Met344Ile)	RTN4IP1 (M244I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 937159	NM_032730.5(RTN4IP1):c.1031T>C (p.Met344Thr)	RTN4IP1 (M244T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1935473	NM_032730.5(RTN4IP1):c.1030A>T (p.Met344Leu)	RTN4IP1 (M244L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1519477	NM_032730.5(RTN4IP1):c.1030A>G (p.Met344Val)	RTN4IP1 (M344V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1486522	NM_032730.5(RTN4IP1):c.1024T>G (p.Phe342Val)	RTN4IP1 (F342V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1362941	NM_032730.5(RTN4IP1):c.1016G>A (p.Arg339His)	RTN4IP1 (R239H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 960601	NM_032730.5(RTN4IP1):c.1015C>T (p.Arg339Cys)	RTN4IP1 (R339C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708372	NM_032730.5(RTN4IP1):c.1007T>A (p.Val336Asp)	RTN4IP1 (V236D +1 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2827316	NM_032730.5(RTN4IP1):c.1002A>G (p.Lys334=)	RTN4IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2046509	NM_032730.5(RTN4IP1):c.996C>T (p.Phe332=)	RTN4IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1715912	NM_032730.5(RTN4IP1):c.991C>T (p.His331Tyr)	RTN4IP1 (H231Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1486837	NM_032730.5(RTN4IP1):c.991-2A>G	RTN4IP1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1165865	NM_032730.5(RTN4IP1):c.991-16G>A	RTN4IP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267293	NM_032730.5(RTN4IP1):c.990+103G>A	RTN4IP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2081652	NM_032730.5(RTN4IP1):c.987A>C (p.Leu329Phe)	RTN4IP1 (L229F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2811530	NM_032730.5(RTN4IP1):c.986T>G (p.Leu329Ter)	RTN4IP1 (L229* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1112800	NM_032730.5(RTN4IP1):c.981G>A (p.Lys327=)	RTN4IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2014205	NM_032730.5(RTN4IP1):c.968_972dup (p.Gly325delinsLeuTer)	RTN4IP1	Duplication (nonsense)	not provided	GPathogenic
Select item 1359943	NM_032730.5(RTN4IP1):c.971T>C (p.Val324Ala)	RTN4IP1 (V224A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1077783	NM_032730.5(RTN4IP1):c.969T>C (p.Thr323=)	RTN4IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1686988	NM_032730.5(RTN4IP1):c.962G>A (p.Gly321Glu)	RTN4IP1 (G221E)	Single nucleotide variant (missense variant)	Optic atrophy 10 with or without ataxia, intellectual disability, and seizures	GPathogenic
Select item 870960	NM_032730.5(RTN4IP1):c.962G>C (p.Gly321Ala)	RTN4IP1 (G321A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2070800	NM_032730.5(RTN4IP1):c.957dup (p.Thr320fs)	RTN4IP1 (T220fs +1 more)	Duplication (frameshift variant)	RTN4IP1-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 2004489	NM_032730.5(RTN4IP1):c.952T>C (p.Leu318=)	RTN4IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1513879	NM_032730.5(RTN4IP1):c.934G>A (p.Gly312Ser)	RTN4IP1 (G212S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2599981	NM_032730.5(RTN4IP1):c.929G>A (p.Arg310Gln)	RTN4IP1 (R210Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2980753	NM_032730.5(RTN4IP1):c.928C>T (p.Arg310Ter)	RTN4IP1 (R210* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3157053	NM_032730.5(RTN4IP1):c.922A>G (p.Met308Val)	RTN4IP1 (M208V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2786188	NM_032730.5(RTN4IP1):c.916C>T (p.Leu306=)	RTN4IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1501179	NM_032730.5(RTN4IP1):c.901G>T (p.Val301Leu)	RTN4IP1 (V201L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2805546	NM_032730.5(RTN4IP1):c.898T>C (p.Leu300=)	RTN4IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 703991	NM_032730.5(RTN4IP1):c.897T>C (p.Thr299=)	RTN4IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 954708	NM_032730.5(RTN4IP1):c.890A>G (p.Tyr297Cys)	RTN4IP1 (Y197C +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1454192	NM_032730.5(RTN4IP1):c.878C>G (p.Ser293Ter)	RTN4IP1 (S293* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2824512	NM_032730.5(RTN4IP1):c.867C>T (p.Leu289=)	RTN4IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1007937	NM_032730.5(RTN4IP1):c.862T>C (p.Phe288Leu)	RTN4IP1 (F188L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2070728	NM_032730.5(RTN4IP1):c.850T>C (p.Trp284Arg)	RTN4IP1 (W284R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1353568	NM_032730.5(RTN4IP1):c.848C>T (p.Thr283Ile)	RTN4IP1 (T183I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 862962	NM_032730.5(RTN4IP1):c.835G>A (p.Gly279Arg)	RTN4IP1 (G179R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3157052	NM_032730.5(RTN4IP1):c.829G>A (p.Val277Ile)	RTN4IP1 (V277I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1350753	NM_032730.5(RTN4IP1):c.820C>G (p.Leu274Val)	RTN4IP1 (L174V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1650975	NM_032730.5(RTN4IP1):c.807-12C>A	RTN4IP1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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