ClinVar for Gene (Select 84816) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367181	NM_032730.5(RTN4IP1):c.743G>T (p.Gly248Val)	RTN4IP1 (G148V +1 more)	Single nucleotide variant (missense variant)	Optic atrophy 10 with or without ataxia, intellectual disability, and seizures	GUncertain significance
Select item 3315721	NM_032730.5(RTN4IP1):c.629T>C (p.Ile210Thr)	RTN4IP1 (I110T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3315720	NM_032730.5(RTN4IP1):c.794A>C (p.Lys265Thr)	RTN4IP1 (K165T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3315719	NM_032730.5(RTN4IP1):c.527C>T (p.Thr176Ile)	RTN4IP1 (T176I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3246240	NC_000006.11:g.(?_107067057)_(107070864_?)dup	RTN4IP1	Duplication	not provided	GLikely pathogenic
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 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 3157051	NM_032730.5(RTN4IP1):c.119G>A (p.Ser40Asn)	RTN4IP1 (S40N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3157050	NM_032730.5(RTN4IP1):c.107C>T (p.Thr36Ile)	RTN4IP1 (T36I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3064093	NM_032730.5(RTN4IP1):c.475G>T (p.Val159Phe)	RTN4IP1 (V159F +1 more)	Single nucleotide variant (missense variant)	Optic atrophy 10 with or without ataxia, intellectual disability, and seizures	GUncertain significance
Select item 3020713	NM_032730.5(RTN4IP1):c.621-10dup	RTN4IP1	Duplication (intron variant)	not provided	GLikely benign
Select item 2995259	NM_032730.5(RTN4IP1):c.29G>A (p.Arg10Lys)	RTN4IP1 (R10K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2993530	NM_032730.5(RTN4IP1):c.427-11_427-6del	RTN4IP1	Microsatellite (intron variant)	not provided	GLikely benign
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 2979206	NM_032730.5(RTN4IP1):c.240T>G (p.Ala80=)	RTN4IP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2973011	NM_032730.5(RTN4IP1):c.351G>A (p.Leu117=)	RTN4IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958154	NM_018292.5(QRSL1):c.21A>C (p.Arg7=)	LOC129996910, QRSL1 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2878174	NM_032730.5(RTN4IP1):c.648A>C (p.Gly216=)	RTN4IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2831701	NM_032730.5(RTN4IP1):c.172C>A (p.Arg58=)	RTN4IP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2827316	NM_032730.5(RTN4IP1):c.1002A>G (p.Lys334=)	RTN4IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2824512	NM_032730.5(RTN4IP1):c.867C>T (p.Leu289=)	RTN4IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2805546	NM_032730.5(RTN4IP1):c.898T>C (p.Leu300=)	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 2786188	NM_032730.5(RTN4IP1):c.916C>T (p.Leu306=)	RTN4IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2779163	NM_032730.5(RTN4IP1):c.447T>C (p.Pro149=)	RTN4IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2754370	NM_032730.5(RTN4IP1):c.793A>C (p.Lys265Gln)	RTN4IP1 (K165Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2748595	NM_032730.5(RTN4IP1):c.463C>G (p.Leu155Val)	RTN4IP1 (L155V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2747152	NM_032730.5(RTN4IP1):c.182A>G (p.Gln61Arg)	RTN4IP1 (Q61R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2732448	NM_032730.5(RTN4IP1):c.438A>G (p.Ala146=)	RTN4IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2704010	NM_032730.5(RTN4IP1):c.747A>G (p.Ala249=)	RTN4IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2698653	NM_032730.5(RTN4IP1):c.495+1G>A	RTN4IP1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2685211	GRCh37/hg19 6q15-21(chr6:92468126-109410569)x1	AFG1L, ARMC2 +43 more	Copy number loss	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 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 2610273	NM_032730.5(RTN4IP1):c.485G>C (p.Ser162Thr)	RTN4IP1 (S162T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2581171	NM_032730.5(RTN4IP1):c.433G>A (p.Ala145Thr)	RTN4IP1 (A145T +1 more)	Single nucleotide variant (missense variant)	not specified	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 2557970	NM_032730.5(RTN4IP1):c.445C>G (p.Pro149Ala)	RTN4IP1 (P49A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552423	NM_032730.5(RTN4IP1):c.98T>A (p.Ile33Asn)	RTN4IP1 (I33N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2431550	NM_032730.5(RTN4IP1):c.275-1299T>C	RTN4IP1	Single nucleotide variant (intron variant)	Optic atrophy 10 with or without ataxia, intellectual disability, and seizures	GUncertain significance
Select item 2431466	NM_032730.5(RTN4IP1):c.-328G>T	RTN4IP1	Single nucleotide variant (5 prime UTR variant +1 more)	Optic atrophy 10 with or without ataxia, intellectual disability, and seizures	GUncertain significance
Select item 2427063	NC_000006.11:g.(?_107069280)_(107070864_?)del	RTN4IP1	Deletion	not provided	GPathogenic
Select item 2427062	NC_000006.11:g.(?_107040019)_(107040195_?)del	RTN4IP1	Deletion	not provided	GPathogenic
Select item 2427061	NC_000006.11:g.(?_107067057)_(107067221_?)del	RTN4IP1	Deletion	not provided	GPathogenic
Select item 2427060	NC_000006.11:g.(?_107069280)_(107069388_?)del	RTN4IP1	Deletion	not provided	GUncertain significance
Select item 2425984	NC_000006.11:g.(?_107019871)_(110266416_?)del	AFG1L, AK9 +21 more	Deletion	not provided	GUncertain significance
Select item 2333967	NM_032730.5(RTN4IP1):c.398A>G (p.Asp133Gly)	RTN4IP1 (D133G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2303365	NM_032730.5(RTN4IP1):c.584T>C (p.Val195Ala)	RTN4IP1 (V195A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297414	NM_032730.5(RTN4IP1):c.791T>G (p.Leu264Trp)	RTN4IP1 (L264W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2202445	NM_032730.5(RTN4IP1):c.495+15C>G	RTN4IP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2200524	NM_032730.5(RTN4IP1):c.806+15A>G	RTN4IP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2197190	NM_032730.5(RTN4IP1):c.1033G>C (p.Ala345Pro)	RTN4IP1 (A245P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2192433	NM_018292.5(QRSL1):c.22G>C (p.Glu8Gln)	LOC129996910, QRSL1 +1 more (E8Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2177185	NM_032730.5(RTN4IP1):c.496-9C>T	RTN4IP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2148273	NM_018292.5(QRSL1):c.10C>T (p.Arg4Trp)	LOC129996910, QRSL1 +1 more (R4W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2125218	NM_032730.5(RTN4IP1):c.399T>C (p.Asp133=)	RTN4IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2120646	NM_032730.5(RTN4IP1):c.173G>A (p.Arg58Gln)	RTN4IP1 (R58Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2108969	NM_032730.5(RTN4IP1):c.120C>A (p.Ser40Arg)	RTN4IP1 (S40R)	Single nucleotide variant (missense variant +1 more)	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 2108167	NM_032730.5(RTN4IP1):c.427-13GT[3]	RTN4IP1	Microsatellite (intron variant)	not provided	GLikely benign
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 2078000	NM_032730.5(RTN4IP1):c.620+3A>G	RTN4IP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2074765	NM_032730.5(RTN4IP1):c.230A>G (p.Lys77Arg)	RTN4IP1 (K77R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2074746	NM_032730.5(RTN4IP1):c.636C>T (p.Gly212=)	RTN4IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2072193	NM_032730.5(RTN4IP1):c.281A>G (p.Tyr94Cys)	RTN4IP1 (Y94C)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2070800	NM_032730.5(RTN4IP1):c.957dup (p.Thr320fs)	RTN4IP1 (T220fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 2061984	NM_032730.5(RTN4IP1):c.670-9G>T	RTN4IP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2059048	NM_032730.5(RTN4IP1):c.239C>T (p.Ala80Val)	RTN4IP1 (A80V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2050977	NM_032730.5(RTN4IP1):c.634G>A (p.Gly212Ser)	RTN4IP1 (G112S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2047155	NM_032730.5(RTN4IP1):c.301A>G (p.Met101Val)	RTN4IP1 (M101V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2046509	NM_032730.5(RTN4IP1):c.996C>T (p.Phe332=)	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 2039260	NM_032730.5(RTN4IP1):c.669+18T>C	RTN4IP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2037259	NM_032730.5(RTN4IP1):c.9T>G (p.Phe3Leu)	RTN4IP1 (F3L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2032603	NM_032730.5(RTN4IP1):c.427-13G>A	RTN4IP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2026842	NM_032730.5(RTN4IP1):c.495+16T>C	RTN4IP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2026180	NM_018292.5(QRSL1):c.10C>A (p.Arg4=)	QRSL1, RTN4IP1 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2014205	NM_032730.5(RTN4IP1):c.968_972dup (p.Gly325delinsLeuTer)	RTN4IP1	Duplication (nonsense)	not provided	GPathogenic
Select item 2009988	NM_032730.5(RTN4IP1):c.723T>A (p.Ser241Arg)	RTN4IP1 (S141R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2004489	NM_032730.5(RTN4IP1):c.952T>C (p.Leu318=)	RTN4IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2003240	NM_032730.5(RTN4IP1):c.31A>G (p.Arg11Gly)	RTN4IP1 (R11G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2002548	NM_032730.5(RTN4IP1):c.679del (p.Ala227fs)	RTN4IP1 (A127fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1997339	NM_032730.5(RTN4IP1):c.275-11G>A	RTN4IP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1992795	NM_032730.5(RTN4IP1):c.496-17G>A	RTN4IP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1980439	NM_032730.5(RTN4IP1):c.670-10del	RTN4IP1	Deletion (intron variant)	not provided	GLikely benign
Select item 1978359	NM_032730.5(RTN4IP1):c.680C>T (p.Ala227Val)	RTN4IP1 (A127V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1972033	NM_032730.5(RTN4IP1):c.274+3_274+6del	RTN4IP1	Microsatellite (intron variant +1 more)	not provided	GUncertain significance
Select item 1968090	NM_032730.5(RTN4IP1):c.712C>T (p.Gln238Ter)	RTN4IP1 (Q238* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1953118	NM_032730.5(RTN4IP1):c.765C>T (p.Tyr255=)	RTN4IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1952289	NM_032730.5(RTN4IP1):c.689C>G (p.Ala230Gly)	RTN4IP1 (A230G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1947294	NM_032730.5(RTN4IP1):c.1089G>T (p.Arg363=)	RTN4IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1940067	NM_032730.5(RTN4IP1):c.298A>G (p.Asn100Asp)	RTN4IP1 (N100D)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance

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