ClinVar for Gene (Select 9750) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3154631	NM_001286445.3(RIPOR2):c.852T>G (p.Phe284Leu)	RIPOR2 (F255L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154630	NM_001286445.3(RIPOR2):c.2981C>T (p.Thr994Ile)	RIPOR2 (T994I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154629	NM_001286445.3(RIPOR2):c.2839G>A (p.Ala947Thr)	RIPOR2 (A947T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154628	NM_001286445.3(RIPOR2):c.2636A>C (p.Glu879Ala)	RIPOR2 (E850A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154627	NM_001286445.3(RIPOR2):c.352C>A (p.Leu118Met)	RIPOR2 (L118M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154626	NM_001286445.3(RIPOR2):c.2521G>A (p.Val841Met)	RIPOR2 (V862M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154625	NM_001286445.3(RIPOR2):c.2497G>A (p.Ala833Thr)	RIPOR2 (A804T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154624	NM_001286445.3(RIPOR2):c.2425C>T (p.Pro809Ser)	RIPOR2 (P780S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3154623	NM_001286445.3(RIPOR2):c.2320G>A (p.Gly774Arg)	RIPOR2 (G745R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154622	NM_001286445.3(RIPOR2):c.289G>A (p.Glu97Lys)	RIPOR2 (E68K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154621	NM_001286445.3(RIPOR2):c.1966G>A (p.Asp656Asn)	RIPOR2 (D627N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154620	NM_001286445.3(RIPOR2):c.1907T>C (p.Val636Ala)	RIPOR2 (V607A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154619	NM_001286445.3(RIPOR2):c.1658C>T (p.Ala553Val)	RIPOR2 (A524V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154618	NM_001286445.3(RIPOR2):c.1635G>T (p.Gln545His)	RIPOR2 (Q516H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154617	NM_001286445.3(RIPOR2):c.1600G>A (p.Glu534Lys)	RIPOR2 (E539K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154616	NM_001286445.3(RIPOR2):c.1579G>T (p.Ala527Ser)	RIPOR2 (A527S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154615	NM_001286445.3(RIPOR2):c.1540A>G (p.Asn514Asp)	RIPOR2 (N485D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154614	NM_001286445.3(RIPOR2):c.1475C>T (p.Ser492Leu)	RIPOR2 (S492L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154613	NM_001286445.3(RIPOR2):c.1164+419G>A	RIPOR2 (R388H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3075834	NM_001286445.3(RIPOR2):c.1858-3C>T	RIPOR2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3067393	NM_001286445.3(RIPOR2):c.280C>T (p.Pro94Ser)	RIPOR2 (P65S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3041315	NM_001286445.3(RIPOR2):c.1014G>A (p.Leu338=)	RIPOR2	Single nucleotide variant (synonymous variant)	RIPOR2-related disorder	GLikely benign
Select item 3040100	NM_001286445.3(RIPOR2):c.999T>A (p.Leu333=)	RIPOR2	Single nucleotide variant (synonymous variant)	RIPOR2-related disorder	GLikely benign
Select item 3038775	NM_001286446.3(RIPOR2):c.-2C>T	RIPOR2	Single nucleotide variant (5 prime UTR variant)	RIPOR2-related disorder	GLikely benign
Select item 3035935	NM_001286445.3(RIPOR2):c.1858-1426C>T	RIPOR2	Single nucleotide variant (3 prime UTR variant +1 more)	RIPOR2-related disorder	GLikely benign
Select item 3030360	NM_001286445.3(RIPOR2):c.1137G>A (p.Thr379=)	RIPOR2	Single nucleotide variant (synonymous variant)	RIPOR2-related disorder	GLikely benign
Select item 3016677	NM_001286445.3(RIPOR2):c.2235A>G (p.Pro745=)	RIPOR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011869	NM_001286445.3(RIPOR2):c.103C>T (p.Gln35Ter)	RIPOR2 (Q40* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3001680	NM_001286445.3(RIPOR2):c.2511T>A (p.Phe837Leu)	RIPOR2 (F837L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988889	NM_001286445.3(RIPOR2):c.423+13C>T	RIPOR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988742	NM_001286445.3(RIPOR2):c.716-14T>C	RIPOR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988634	NM_001286445.3(RIPOR2):c.1369A>G (p.Met457Val)	RIPOR2 (M428V +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2984767	NM_001286445.3(RIPOR2):c.305G>T (p.Arg102Met)	RIPOR2 (R102M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974444	NM_001286445.3(RIPOR2):c.1499G>A (p.Arg500Gln)	RIPOR2 (R505Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974038	NM_001286445.3(RIPOR2):c.2429C>T (p.Ala810Val)	RIPOR2 (A781V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2971638	NM_001286445.3(RIPOR2):c.1673C>T (p.Ala558Val)	RIPOR2 (A529V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970345	NM_001286445.3(RIPOR2):c.343G>C (p.Asp115His)	RIPOR2 (D120H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968687	NM_001286445.3(RIPOR2):c.697T>A (p.Phe233Ile)	RIPOR2 (F204I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968465	NM_001286445.3(RIPOR2):c.189-3T>C	RIPOR2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2962564	NM_001286445.3(RIPOR2):c.2784A>C (p.Leu928=)	RIPOR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960425	NM_001286445.3(RIPOR2):c.1496G>A (p.Arg499His)	RIPOR2 (R520H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960144	NM_001286445.3(RIPOR2):c.1164+502G>T	RIPOR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957777	NM_001286445.3(RIPOR2):c.502-17T>C	RIPOR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957523	NM_001286445.3(RIPOR2):c.345-18C>T	RIPOR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2954991	NM_001286445.3(RIPOR2):c.2345-18dup	RIPOR2	Duplication (intron variant)	not provided	GBenign
Select item 2919527	NM_001286445.3(RIPOR2):c.2790C>G (p.Thr930=)	RIPOR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908400	NM_001286445.3(RIPOR2):c.2318T>C (p.Ile773Thr)	RIPOR2 (I744T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2901256	NM_001286445.3(RIPOR2):c.310G>A (p.Glu104Lys)	RIPOR2 (E104K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896795	NM_001286445.3(RIPOR2):c.630G>A (p.Arg210=)	RIPOR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894349	NM_001286445.3(RIPOR2):c.1251C>T (p.Asn417=)	RIPOR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885044	NM_001286445.3(RIPOR2):c.1164+369G>A	RIPOR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2876850	NM_001286445.3(RIPOR2):c.3044-20G>A	RIPOR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870011	NM_001286445.3(RIPOR2):c.651+16C>T	RIPOR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2839979	NM_001286445.3(RIPOR2):c.431T>C (p.Leu144Pro)	RIPOR2 (L115P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2817421	NM_001286445.3(RIPOR2):c.1941C>T (p.Asn647=)	RIPOR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2809482	NM_001286445.3(RIPOR2):c.1164+452G>A	RIPOR2 (R399K)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2803724	NM_001286445.3(RIPOR2):c.529A>G (p.Ile177Val)	RIPOR2 (I182V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2783726	NM_001286445.3(RIPOR2):c.1740T>C (p.Asp580=)	RIPOR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2768093	NM_001286445.3(RIPOR2):c.1252G>A (p.Gly418Arg)	RIPOR2 (G418R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2761380	NM_001286445.3(RIPOR2):c.1064C>G (p.Ser355Cys)	RIPOR2 (S326C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2761081	NM_001286445.3(RIPOR2):c.1164+328C>T	RIPOR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2756076	NM_001286445.3(RIPOR2):c.567G>A (p.Lys189=)	RIPOR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2753592	NM_001286445.3(RIPOR2):c.535C>T (p.Arg179Ter)	RIPOR2 (R184* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2752134	NM_001286445.3(RIPOR2):c.1204G>A (p.Ala402Thr)	RIPOR2 (A407T +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2730401	NM_001286445.3(RIPOR2):c.1476G>A (p.Ser492=)	RIPOR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2723444	NM_001286445.3(RIPOR2):c.2665+8A>T	RIPOR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2703036	NM_001286445.3(RIPOR2):c.3063A>C (p.Ala1021=)	RIPOR2	Single nucleotide variant (synonymous variant)	RIPOR2-related disorder +1 more	GLikely benign
Select item 2695954	NM_001286445.3(RIPOR2):c.1768C>A (p.Leu590Ile)	RIPOR2 (L590I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685197	GRCh37/hg19 6p22.3-22.2(chr6:21704602-26187420)x1	ACOT13, ALDH5A1 +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 2673045	NM_001286445.3(RIPOR2):c.651+4T>C	RIPOR2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2656290	NM_001286445.3(RIPOR2):c.2574G>A (p.Ser858=)	RIPOR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656289	NM_001286445.3(RIPOR2):c.2793A>G (p.Arg931=)	RIPOR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2629161	NM_001286445.3(RIPOR2):c.1616A>C (p.Glu539Ala)	RIPOR2 (E510A +3 more)	Single nucleotide variant (missense variant)	RIPOR2-related disorder	GUncertain significance
Select item 2628912	NM_001286445.3(RIPOR2):c.1880G>A (p.Ser627Asn)	RIPOR2 (S598N +2 more)	Single nucleotide variant (missense variant)	RIPOR2-related disorder	GUncertain significance
Select item 2608822	NM_001286445.3(RIPOR2):c.1270T>A (p.Ser424Thr)	RIPOR2 (S395T +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2602658	NM_001286445.3(RIPOR2):c.1164+335G>T	RIPOR2 (R360M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600515	NM_001286445.3(RIPOR2):c.2084C>T (p.Ala695Val)	RIPOR2 (A695V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560476	NM_001286445.3(RIPOR2):c.2721G>A (p.Met907Ile)	RIPOR2 (M878I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559359	NM_001286445.3(RIPOR2):c.1993G>A (p.Gly665Arg)	RIPOR2 (G665R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548285	NM_001286445.3(RIPOR2):c.1456G>A (p.Glu486Lys)	RIPOR2 (E507K +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2536737	NM_001286445.3(RIPOR2):c.3050A>G (p.Asp1017Gly)	RIPOR2 (D988G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523680	NM_001286445.3(RIPOR2):c.235G>C (p.Ala79Pro)	RIPOR2 (A50P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521266	NM_001286445.3(RIPOR2):c.2176A>G (p.Arg726Gly)	RIPOR2 (R726G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518101	NM_001286445.3(RIPOR2):c.1136C>A (p.Thr379Lys)	RIPOR2 (T379K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498998	NM_001286445.3(RIPOR2):c.1975G>A (p.Glu659Lys)	RIPOR2 (E630K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2498247	NM_001286445.3(RIPOR2):c.1498C>T (p.Arg500Ter)	RIPOR2 (R471* +3 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 104	GLikely pathogenic
Select item 2469456	NM_001286445.3(RIPOR2):c.1060G>A (p.Ala354Thr)	RIPOR2 (A354T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467434	NM_001286445.3(RIPOR2):c.2182C>T (p.Leu728Phe)	RIPOR2 (L699F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466861	NM_001286445.3(RIPOR2):c.2513G>A (p.Arg838Gln)	RIPOR2 (R859Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2195570	NM_001286445.3(RIPOR2):c.2204T>C (p.Val735Ala)	RIPOR2 (V735A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2184213	NM_001286445.3(RIPOR2):c.1139C>T (p.Pro380Leu)	RIPOR2 (P385L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2182324	NM_001286445.3(RIPOR2):c.2745C>T (p.Leu915=)	RIPOR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2180872	NM_001286445.3(RIPOR2):c.760-4C>T	RIPOR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2175206	NM_001286445.3(RIPOR2):c.1072G>A (p.Ala358Thr)	RIPOR2 (A358T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2139120	NM_001286445.3(RIPOR2):c.1136C>T (p.Thr379Met)	RIPOR2 (T350M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2106234	NM_001286445.3(RIPOR2):c.122G>A (p.Gly41Glu)	RIPOR2 (G41E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2105365	NM_001286445.3(RIPOR2):c.1909G>A (p.Glu637Lys)	RIPOR2 (E608K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2078008	NM_001286445.3(RIPOR2):c.1738G>A (p.Asp580Asn)	RIPOR2 (D551N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2075535	NM_001286445.3(RIPOR2):c.1481C>A (p.Pro494Gln)	RIPOR2 (P465Q +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2072418	NM_001286445.3(RIPOR2):c.344+3A>G	RIPOR2	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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