23005[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151339	GRCh38/hg38 15q15.1(chr15:41697762-42489559)x3	CAPN3, EHD4 +44 more	Copy number gain	See cases	GUncertain significance
Select item 2022907	NM_014994.3(MAPKBP1):c.1A>G (p.Met1Val)	MAPKBP1 (M1V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2160462	NM_014994.3(MAPKBP1):c.6T>C (p.Ala2=)	MAPKBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2645194	NM_014994.3(MAPKBP1):c.30C>T (p.Ser10=)	MAPKBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2645195	NM_014994.3(MAPKBP1):c.57A>G (p.Pro19=)	MAPKBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3123387	NM_014994.3(MAPKBP1):c.90C>A (p.Asn30Lys)	MAPKBP1 (N30K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1032648	NM_014994.3(MAPKBP1):c.97G>C (p.Glu33Gln)	MAPKBP1 (E33Q)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 20	GUncertain significance
Select item 3351345	NM_014994.3(MAPKBP1):c.99G>A (p.Glu33=)	MAPKBP1	Single nucleotide variant (synonymous variant +1 more)	MAPKBP1-related disorder	GLikely benign
Select item 3357573	NM_014994.3(MAPKBP1):c.114+10G>T	MAPKBP1	Single nucleotide variant (intron variant)	MAPKBP1-related disorder	GLikely benign
Select item 1990354	NM_014994.3(MAPKBP1):c.114+17T>C	MAPKBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3577099	NM_014994.3(MAPKBP1):c.137G>A (p.Gly46Glu)	MAPKBP1 (G46E)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 20	GUncertain significance
Select item 2178013	NM_014994.3(MAPKBP1):c.206+10C>T	MAPKBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1629872	NM_014994.3(MAPKBP1):c.206+11G>C	MAPKBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1284119	NM_014994.3(MAPKBP1):c.207-145_207-144del	MAPKBP1	Deletion (intron variant)	not provided	GBenign
Select item 1282069	NM_014994.3(MAPKBP1):c.207-149_207-144del	MAPKBP1	Deletion (intron variant)	not provided	GBenign
Select item 1462825	NM_014994.3(MAPKBP1):c.227A>G (p.Asn76Ser)	MAPKBP1 (N76S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2179879	NM_014994.3(MAPKBP1):c.232C>T (p.Arg78Trp)	MAPKBP1 (R78W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1423788	NM_014994.3(MAPKBP1):c.241A>G (p.Lys81Glu)	MAPKBP1 (K81E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2002237	NM_014994.3(MAPKBP1):c.256C>G (p.Leu86Val)	MAPKBP1 (L86V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2582421	NM_014994.3(MAPKBP1):c.260A>G (p.Asn87Ser)	MAPKBP1 (N87S)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 20	GUncertain significance
Select item 2045852	NM_014994.3(MAPKBP1):c.263G>A (p.Ser88Asn)	MAPKBP1 (S88N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1899309	NM_014994.3(MAPKBP1):c.269+16T>C	MAPKBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1954210	NM_014994.3(MAPKBP1):c.269+18C>A	MAPKBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2414330	NM_014994.3(MAPKBP1):c.276C>T (p.Thr92=)	MAPKBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1297946	NM_014994.3(MAPKBP1):c.327+123C>T	MAPKBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2970865	NM_014994.3(MAPKBP1):c.345C>T (p.Ala115=)	MAPKBP1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1374982	NM_014994.3(MAPKBP1):c.352G>A (p.Val118Ile)	MAPKBP1 (V118I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2536551	NM_014994.3(MAPKBP1):c.383C>G (p.Ala128Gly)	MAPKBP1 (A128G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3293274	NM_014994.3(MAPKBP1):c.385G>A (p.Glu129Lys)	MAPKBP1 (E129K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2019460	NM_014994.3(MAPKBP1):c.434G>C (p.Ser145Thr)	MAPKBP1 (S145T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1371459	NM_014994.3(MAPKBP1):c.434G>A (p.Ser145Asn)	MAPKBP1 (S145N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2220023	NM_014994.3(MAPKBP1):c.436G>A (p.Ala146Thr)	MAPKBP1 (A146T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 771909	NM_014994.3(MAPKBP1):c.478G>A (p.Val160Ile)	MAPKBP1 (V160I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2039134	NM_014994.3(MAPKBP1):c.483C>T (p.Asn161=)	MAPKBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2906197	NM_014994.3(MAPKBP1):c.498+8G>A	MAPKBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982604	NM_014994.3(MAPKBP1):c.499-12C>T	MAPKBP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1949153	NM_014994.3(MAPKBP1):c.521A>G (p.Asn174Ser)	MAPKBP1 (N174S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2958015	NM_014994.3(MAPKBP1):c.546A>G (p.Ala182=)	MAPKBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3543247	NM_014994.3(MAPKBP1):c.564T>G (p.Asp188Glu)	MAPKBP1 (D188E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 374915	NM_014994.3(MAPKBP1):c.592C>T (p.Arg198Ter)	MAPKBP1 (R198*)	Single nucleotide variant (nonsense +1 more)	Nephronophthisis 20	GPathogenic
Select item 3123384	NM_014994.3(MAPKBP1):c.613C>T (p.Leu205Phe)	MAPKBP1 (L205F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2984686	NM_014994.3(MAPKBP1):c.636+15C>T	MAPKBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1243285	NM_014994.3(MAPKBP1):c.636+65G>A	MAPKBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1635558	NM_014994.3(MAPKBP1):c.637-17G>A	MAPKBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1445440	NM_014994.3(MAPKBP1):c.660G>A (p.Leu220=)	MAPKBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2053025	NM_014994.3(MAPKBP1):c.666C>T (p.Arg222=)	MAPKBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2136603	NM_014994.3(MAPKBP1):c.688C>T (p.Arg230Trp)	MAPKBP1 (R230W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1598238	NM_014994.3(MAPKBP1):c.702C>T (p.Phe234=)	MAPKBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2909876	NM_014994.3(MAPKBP1):c.714C>T (p.Ala238=)	MAPKBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 793604	NM_014994.3(MAPKBP1):c.721A>C (p.Arg241=)	MAPKBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 794501	NM_014994.3(MAPKBP1):c.735G>A (p.Ala245=)	MAPKBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2996835	NM_014994.3(MAPKBP1):c.756G>T (p.Thr252=)	MAPKBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1496463	NM_014994.3(MAPKBP1):c.774C>T (p.Cys258=)	MAPKBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3123385	NM_014994.3(MAPKBP1):c.775G>A (p.Glu259Lys)	MAPKBP1 (E259K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1640134	NM_014994.3(MAPKBP1):c.819+13G>A	MAPKBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1563306	NM_014994.3(MAPKBP1):c.819+16C>T	MAPKBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1919916	NM_014994.3(MAPKBP1):c.819+17C>G	MAPKBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2057984	NM_014994.3(MAPKBP1):c.819+222C>T	MAPKBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1941933	NM_014994.3(MAPKBP1):c.819+223G>T	MAPKBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2751281	NM_014994.3(MAPKBP1):c.819+231C>T	MAPKBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1991406	NM_014994.3(MAPKBP1):c.820-12C>T	MAPKBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2120954	NM_014994.3(MAPKBP1):c.823A>G (p.Thr275Ala)	MAPKBP1 (T275A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2181654	NM_014994.3(MAPKBP1):c.889C>T (p.Arg297Cys)	MAPKBP1 (R303C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3123386	NM_014994.3(MAPKBP1):c.890G>A (p.Arg297His)	MAPKBP1 (R297H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2645196	NM_014994.3(MAPKBP1):c.900C>T (p.Asn300=)	MAPKBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1449722	NM_014994.3(MAPKBP1):c.902C>T (p.Pro301Leu)	MAPKBP1 (P307L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1265041	NM_014994.3(MAPKBP1):c.919C>G (p.Leu307Val)	MAPKBP1 (L307V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3543233	NM_014994.3(MAPKBP1):c.922A>G (p.Ser308Gly)	MAPKBP1 (S308G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 800821	NM_014994.3(MAPKBP1):c.934C>T (p.Arg312Ter)	MAPKBP1 (R318* +1 more)	Single nucleotide variant (nonsense +1 more)	Nephronophthisis 20	GLikely pathogenic
Select item 2200003	NM_014994.3(MAPKBP1):c.935G>A (p.Arg312Gln)	MAPKBP1 (R318Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3123388	NM_014994.3(MAPKBP1):c.967G>A (p.Val323Ile)	MAPKBP1 (V323I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2889400	NM_014994.3(MAPKBP1):c.972C>T (p.Thr324=)	MAPKBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2048947	NM_014994.3(MAPKBP1):c.980+12G>A	MAPKBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1901934	NM_014994.3(MAPKBP1):c.980+20dup	MAPKBP1	Duplication (intron variant)	not provided	GBenign
Select item 1579339	NM_014994.3(MAPKBP1):c.980+17C>A	MAPKBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2880928	NM_014994.3(MAPKBP1):c.980+18C>T	MAPKBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010145	NM_014994.3(MAPKBP1):c.981-11dup	MAPKBP1	Duplication (intron variant)	not provided	GLikely benign
Select item 2443171	NM_014994.3(MAPKBP1):c.1013A>G (p.Tyr338Cys)	MAPKBP1 (Y338C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2330962	NM_014994.3(MAPKBP1):c.1031T>C (p.Leu344Ser)	MAPKBP1 (L350S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1976878	NM_014994.3(MAPKBP1):c.1080T>C (p.His360=)	MAPKBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3123363	NM_014994.3(MAPKBP1):c.1084A>G (p.Ile362Val)	MAPKBP1 (I368V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 718036	NM_014994.3(MAPKBP1):c.1156G>A (p.Val386Ile)	MAPKBP1 (V386I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 2050644	NM_014994.3(MAPKBP1):c.1170+8GGCT[5]	MAPKBP1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1987418	NM_014994.3(MAPKBP1):c.1170+18C>T	MAPKBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247647	NM_014994.3(MAPKBP1):c.1170+132G>T	MAPKBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2403322	NM_014994.3(MAPKBP1):c.1213C>G (p.Pro405Ala)	MAPKBP1 (P405A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1901080	NM_014994.3(MAPKBP1):c.1221C>T (p.Ser407=)	MAPKBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3123364	NM_014994.3(MAPKBP1):c.1252C>T (p.Arg418Cys)	MAPKBP1 (R424C +1 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 20 +1 more	GUncertain significance
Select item 1526225	NM_014994.3(MAPKBP1):c.1270_1271del (p.Ser424fs)	MAPKBP1 (S424fs +1 more)	Microsatellite (frameshift variant +1 more)	MAPKBP1-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 3293273	NM_014994.3(MAPKBP1):c.1289C>T (p.Ser430Phe)	MAPKBP1 (S430F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2082833	NM_014994.3(MAPKBP1):c.1292C>T (p.Thr431Ile)	MAPKBP1 (T431I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 374917	NM_014994.3(MAPKBP1):c.1300C>T (p.Arg434Ter)	MAPKBP1 (R440* +1 more)	Single nucleotide variant (nonsense +1 more)	Nephronophthisis 20	GPathogenic
Select item 2712762	NM_014994.3(MAPKBP1):c.1350C>T (p.Asn450=)	MAPKBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1972391	NM_014994.3(MAPKBP1):c.1363C>T (p.Leu455=)	MAPKBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2179094	NM_014994.3(MAPKBP1):c.1366G>A (p.Asp456Asn)	MAPKBP1 (D456N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3543234	NM_014994.3(MAPKBP1):c.1378C>T (p.Pro460Ser)	MAPKBP1 (P460S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2645197	NM_014994.3(MAPKBP1):c.1419C>T (p.Arg473=)	MAPKBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1587177	NM_014994.3(MAPKBP1):c.1419C>A (p.Arg473=)	MAPKBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 733747	NM_014994.3(MAPKBP1):c.1420G>A (p.Val474Met)	MAPKBP1 (V480M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1805864	NM_014994.3(MAPKBP1):c.1426A>G (p.Ile476Val)	MAPKBP1 (I476V +1 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 20	GUncertain significance

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