9750[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 368

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	LOC110121220, LOC110121246 +2579 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 144466	GRCh38/hg38 6p22.3-22.2(chr6:22519454-25226331)x1	ACOT13, ALDH5A1 +50 more	Copy number loss	See cases	GPathogenic
Select item 149747	GRCh38/hg38 6p22.3-22.2(chr6:23252522-25967277)x1	ACOT13, ALDH5A1 +64 more	Copy number loss	See cases	GUncertain significance
Select item 151590	GRCh38/hg38 6p22.3(chr6:24686052-24833713)x3	ACOT13, ARMH2 +6 more	Copy number gain	See cases	GUncertain significance
Select item 1316858	NM_001286445.3(RIPOR2):c.*326A>G	RIPOR2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1249750	NM_001286445.3(RIPOR2):c.*263A>G	RIPOR2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 517548	NM_001286445.3(RIPOR2):c.*7G>A	RIPOR2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 595299	NM_001286445.3(RIPOR2):c.3133A>G (p.Thr1045Ala)	RIPOR2 (T1066A +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2050878	NM_001286445.3(RIPOR2):c.3130G>A (p.Ala1044Thr)	RIPOR2 (A1044T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1680477	NM_001286445.3(RIPOR2):c.3094T>C (p.Cys1032Arg)	RIPOR2 (C1003R +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 593471	NM_001286445.3(RIPOR2):c.3071A>G (p.Gln1024Arg)	RIPOR2 (Q1045R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1680478	NM_001286445.3(RIPOR2):c.3056G>A (p.Arg1019Gln)	RIPOR2 (R1019Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1917390	NM_001286445.3(RIPOR2):c.3044-6A>G	RIPOR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 517552	NM_001286445.3(RIPOR2):c.3044-12T>C	RIPOR2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2876850	NM_001286445.3(RIPOR2):c.3044-20G>A	RIPOR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1285903	NM_001286445.3(RIPOR2):c.3044-39_3044-38insAA	RIPOR2	Insertion (intron variant)	not provided	GBenign
Select item 1268179	NM_001286445.3(RIPOR2):c.3044-51T>G	RIPOR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265462	NM_001286445.3(RIPOR2):c.3044-76A>T	RIPOR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267710	NM_001286445.3(RIPOR2):c.3044-222T>G	RIPOR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182577	NM_001286445.3(RIPOR2):c.3043+174T>C	RIPOR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262708	NM_001286445.3(RIPOR2):c.3043+92G>A	RIPOR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228095	NM_001286445.3(RIPOR2):c.3043+71T>G	RIPOR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223317	NM_001286445.3(RIPOR2):c.3043+64A>T	RIPOR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1680479	NM_001286445.3(RIPOR2):c.3043+13GTT[2]	RIPOR2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 517553	NM_001286445.3(RIPOR2):c.3043+9T>A	RIPOR2	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 104 +2 more	GBenign
Select item 2061251	NM_001286445.3(RIPOR2):c.2991A>G (p.Gln997=)	RIPOR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1290049	NM_001286445.3(RIPOR2):c.2953-47C>T	RIPOR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181929	NM_001286445.3(RIPOR2):c.2953-266A>T	RIPOR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282611	NM_001286445.3(RIPOR2):c.2953-267G>T	RIPOR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285735	NM_001286445.3(RIPOR2):c.2952+11G>T	RIPOR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 514332	NM_001286445.3(RIPOR2):c.2952+9C>T	RIPOR2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 508096	NM_001286445.3(RIPOR2):c.2937T>C (p.Ala979=)	RIPOR2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 508155	NM_001286445.3(RIPOR2):c.2895A>G (p.Leu965=)	RIPOR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1253443	NM_001286445.3(RIPOR2):c.2869-166C>T	RIPOR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318124	NM_001286445.3(RIPOR2):c.2869-171C>T	RIPOR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1680480	NM_001286445.3(RIPOR2):c.2868+19G>A	RIPOR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317826	NM_001286445.3(RIPOR2):c.2840C>T (p.Ala947Val)	RIPOR2 (A918V +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 1680481	NM_001286445.3(RIPOR2):c.2828A>G (p.Tyr943Cys)	RIPOR2 (Y914C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1680482	NM_001286445.3(RIPOR2):c.2822C>T (p.Thr941Met)	RIPOR2 (T912M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 768068	NM_001286445.3(RIPOR2):c.2811= (p.Ser937=)	RIPOR2	Variation (no sequence alteration)	not provided	GBenign
Select item 499652	NM_001286445.3(RIPOR2):c.2811T>C (p.Ser937=)	RIPOR2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 768069	NM_001286445.3(RIPOR2):c.2802C>T (p.Asn934=)	RIPOR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely 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 2919527	NM_001286445.3(RIPOR2):c.2790C>G (p.Thr930=)	RIPOR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962564	NM_001286445.3(RIPOR2):c.2784A>C (p.Leu928=)	RIPOR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2055215	NM_001286445.3(RIPOR2):c.2719A>G (p.Met907Val)	RIPOR2 (M907V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1680483	NM_001286445.3(RIPOR2):c.2712A>G (p.Leu904=)	RIPOR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 593395	NM_001286445.3(RIPOR2):c.2697A>C (p.Arg899Ser)	RIPOR2 (R920S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 512250	NM_001286445.3(RIPOR2):c.2685G>A (p.Leu895=)	RIPOR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1228155	NM_001286445.3(RIPOR2):c.2665+244A>G	RIPOR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276716	NM_001286445.3(RIPOR2):c.2665+47G>A	RIPOR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317746	NM_001286445.3(RIPOR2):c.2665+32G>A	RIPOR2	Single nucleotide variant (intron 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 1680484	NM_001286445.3(RIPOR2):c.2651A>G (p.Gln884Arg)	RIPOR2 (Q855R +2 more)	Single nucleotide variant (missense variant)	not provided	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 1680485	NM_001286445.3(RIPOR2):c.2623G>A (p.Val875Ile)	RIPOR2 (V846I +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1317086	NM_001286445.3(RIPOR2):c.2620G>A (p.Gly874Ser)	RIPOR2 (G845S +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 994449	NM_001286445.3(RIPOR2):c.2592C>T (p.Phe864=)	RIPOR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1316798	NM_001286445.3(RIPOR2):c.2583C>T (p.Val861=)	RIPOR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 508139	NM_001286445.3(RIPOR2):c.2581G>A (p.Val861Ile)	RIPOR2 (V882I +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1316707	NM_001286445.3(RIPOR2):c.2580C>T (p.Val860=)	RIPOR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 667322	NM_001286445.3(RIPOR2):c.2579T>C (p.Val860Ala)	RIPOR2 (V860A +2 more)	Single nucleotide variant (missense variant)	not specified	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 1680486	NM_001286445.3(RIPOR2):c.2573C>T (p.Ser858Leu)	RIPOR2 (S829L +2 more)	Single nucleotide variant (missense variant)	RIPOR2-related disorder +2 more	GUncertain significance
Select item 508154	NM_001286445.3(RIPOR2):c.2540G>A (p.Arg847Gln)	RIPOR2 (R868Q +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 2060921	NM_001286445.3(RIPOR2):c.2539C>T (p.Arg847Trp)	RIPOR2 (R868W +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 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 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 508583	NM_001286445.3(RIPOR2):c.2507-6G>A	RIPOR2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 727723	NM_001286445.3(RIPOR2):c.2507-7C>T	RIPOR2	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1680487	NM_001286445.3(RIPOR2):c.2507-10T>C	RIPOR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253192	NM_001286445.3(RIPOR2):c.2507-37T>C	RIPOR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278225	NM_001286445.3(RIPOR2):c.2507-63AATG[6]	RIPOR2	Microsatellite (intron variant)	not provided	GBenign
Select item 1282266	NM_001286445.3(RIPOR2):c.2507-63AATG[4]	RIPOR2	Microsatellite (intron variant)	not provided	GBenign
Select item 682984	NM_014722.5(RIPOR2):c.2569+57G>C	RIPOR2	Single nucleotide variant	not provided	GBenign
Select item 1316162	NM_001286445.3(RIPOR2):c.2506+56G>A	RIPOR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1680488	NM_001286445.3(RIPOR2):c.2470A>T (p.Thr824Ser)	RIPOR2 (T795S +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1680489	NM_001286445.3(RIPOR2):c.2449C>T (p.Leu817=)	RIPOR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 666745	NM_001286445.3(RIPOR2):c.2430G>A (p.Ala810=)	RIPOR2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
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 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 2063034	NM_001286445.3(RIPOR2):c.2411G>T (p.Gly804Val)	RIPOR2 (G825V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1680490	NM_001286445.3(RIPOR2):c.2394G>C (p.Lys798Asn)	RIPOR2 (K769N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2954991	NM_001286445.3(RIPOR2):c.2345-18dup	RIPOR2	Duplication (intron variant)	not provided	GBenign
Select item 1317648	NM_001286445.3(RIPOR2):c.2345-60AAAAT[4]	RIPOR2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 682789	NM_014722.5(RIPOR2):c.2408-78G>A	RIPOR2	Single nucleotide variant	not provided	GBenign
Select item 683265	NM_014722.5(RIPOR2):c.2408-93A>G	RIPOR2	Single nucleotide variant	not provided	GBenign
Select item 1296849	NM_001286445.3(RIPOR2):c.2345-124C>G	RIPOR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296874	NM_001286445.3(RIPOR2):c.2344+234C>A	RIPOR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247338	NM_001286445.3(RIPOR2):c.2344+222C>T	RIPOR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316828	NM_001286445.3(RIPOR2):c.2344+16T>C	RIPOR2	Single nucleotide variant (intron variant)	not provided	GLikely benign

<< First< Prev

Page of 4