5350[geneid] - 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	LOC129996876, LOC129996877 +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 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic
Select item 2579265	GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1	ARHGAP18, ASF1A +316 more	Copy number loss	Intellectual disability, autosomal dominant 55, with seizures	GPathogenic
Select item 58442	GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1	LOC129389639, LOC129389640 +254 more	Copy number loss	See cases	GPathogenic
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 151218	GRCh38/hg38 6q22.1-22.31(chr6:116815199-119718887)x1	ASF1A, CEP85L +68 more	Copy number loss	See cases	GLikely pathogenic
Select item 148658	GRCh38/hg38 6q22.1-22.32(chr6:117607147-126699980)x3	LOC129997072, LOC129997073 +147 more	Copy number gain	See cases	GPathogenic
Select item 59528	GRCh38/hg38 6q22.31(chr6:118229864-118723034)x3	CEP85L, LOC110121273 +10 more	Copy number gain	See cases	GUncertain significance
Select item 59529	GRCh38/hg38 6q22.31(chr6:118390687-118736132)x3	CEP85L, LOC110121273 +8 more	Copy number gain	See cases	GUncertain significance
Select item 59530	GRCh38/hg38 6q22.31(chr6:118509086-119604498)x3	ASF1A, CEP85L +32 more	Copy number gain	See cases	GUncertain significance
Select item 657898	NC_000006.12:g.(?_118548061)_(118559090_?)del	CEP85L, PLN	Deletion	Dilated cardiomyopathy 1P	GPathogenic
Select item 641547	NC_000006.11:g.(?_118869224)_(118880253_?)dup	CEP85L, PLN	Duplication	Dilated cardiomyopathy 1P	GUncertain significance
Select item 1013760	NC_000006.12:g.118548176A>G	CEP85L, PLN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1P	GUncertain significance
Select item 1504806	NC_000006.12:g.118548182T>C	CEP85L, PLN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1P +1 more	GUncertain significance
Select item 464267	NC_000006.11:g.(?_118869382)_(118880263_?)dup	CEP85L, PLN	Duplication	Dilated cardiomyopathy 1P	GUncertain significance
Select item 29836	NC_000006.12:g.118548219A>G	CEP85L, PLN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1P	GUncertain significance
Select item 239212	NC_000006.12:g.118548249G>T	CEP85L, PLN	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 220851	NC_000006.12:g.118548254C>G	PLN, CEP85L	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1P +1 more	GUncertain significance
Select item 403328	NM_001042475.3(CEP85L):c.1020+17269T>G	CEP85L, PLN	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 355133	NM_002667.5(PLN):c.-150G>A	CEP85L, PLN	Single nucleotide variant (5 prime UTR variant +1 more)	Dilated cardiomyopathy 1P +1 more	GBenign/Likely benign
Select item 355134	NM_002667.5(PLN):c.-142T>A	CEP85L, PLN	Single nucleotide variant (5 prime UTR variant +1 more)	Dilated Cardiomyopathy, Dominant +3 more	GUncertain significance
Select item 355135	NM_002667.5(PLN):c.-120C>T	CEP85L, PLN	Single nucleotide variant (5 prime UTR variant +1 more)	Dilated cardiomyopathy 1P +1 more	GUncertain significance
Select item 682277	NM_002667.5(PLN):c.-98+15T>A	CEP85L, PLN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 384450	NM_002667.5(PLN):c.-98+17G>A	CEP85L, PLN	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1194293	NM_002667.5(PLN):c.-97-293T>C	CEP85L, PLN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269771	NM_002667.5(PLN):c.-97-206G>T	CEP85L, PLN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180239	NM_002667.5(PLN):c.-97-199_-97-198del	CEP85L, PLN	Deletion (intron variant)	not provided	GLikely benign
Select item 1283205	NM_002667.5(PLN):c.-97-198AC[18]	CEP85L, PLN	Microsatellite (intron variant)	not provided	GBenign
Select item 1258553	NM_002667.5(PLN):c.-97-198AC[20]	CEP85L, PLN	Microsatellite (intron variant)	not provided	GBenign
Select item 1246007	NM_002667.5(PLN):c.-97-198AC[19]	CEP85L, PLN	Microsatellite (intron variant)	not provided	GBenign
Select item 1236113	NM_002667.5(PLN):c.-97-198AC[21]	CEP85L, PLN	Microsatellite (intron variant)	not provided	GBenign
Select item 1252105	NM_002667.5(PLN):c.-97-198AC[15]	CEP85L, PLN	Microsatellite (intron variant)	not provided	GBenign
Select item 1180349	NM_002667.5(PLN):c.-97-177_-97-162del	CEP85L, PLN	Deletion (intron variant)	not provided	GBenign
Select item 1223914	NM_002667.5(PLN):c.-97-169C>G	CEP85L, PLN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240427	NM_002667.5(PLN):c.-97-167C>G	CEP85L, PLN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196240	NM_002667.5(PLN):c.-97-165_-97-160del	CEP85L, PLN	Deletion (intron variant)	not provided	GLikely benign
Select item 1260729	NM_002667.5(PLN):c.-97-163G>C	CEP85L, PLN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225868	NM_002667.5(PLN):c.-97-161G>C	CEP85L, PLN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238034	NM_002667.5(PLN):c.-97-159G>C	CEP85L, PLN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675990	NM_002667.5(PLN):c.-97-105A>G	CEP85L, PLN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675329	NM_002667.5(PLN):c.-97-53T>A	CEP85L, PLN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 993418	NM_002667.5(PLN):c.-97-9A>G	PLN, CEP85L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 355136	NM_002667.5(PLN):c.-97-5T>C	PLN, CEP85L	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1P +1 more	GUncertain significance
Select item 3252377	NM_002667.5(PLN):c.-97G>A	CEP85L, PLN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 239215	NM_002667.4(PLN):c.-97-?_*1344+?dup1600	CEP85L, PLN	Duplication	Dilated cardiomyopathy 1P	GUncertain significance
Select item 906401	NM_002667.5(PLN):c.-56C>T	CEP85L, PLN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 384083	NM_002667.5(PLN):c.-40C>T	CEP85L, PLN	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 384911	NM_002667.5(PLN):c.-14G>A	CEP85L, PLN	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 520337	NM_002667.5(PLN):c.-4T>A	CEP85L, PLN	Single nucleotide variant (5 prime UTR variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 164971	NM_002667.5(PLN):c.2T>C (p.Met1Thr)	CEP85L, PLN (M1T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1072579	NM_002667.5(PLN):c.9dup (p.Val4fs)	CEP85L, PLN (V4fs)	Duplication (frameshift variant +1 more)	Dilated cardiomyopathy 1P	GPathogenic
Select item 229152	NM_002667.5(PLN):c.14A>G (p.Gln5Arg)	CEP85L, PLN (Q5R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2181774	NM_002667.5(PLN):c.16T>C (p.Tyr6His)	CEP85L, PLN (Y6H)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1P	GUncertain significance
Select item 2884459	NM_002667.5(PLN):c.21C>T (p.Leu7=)	CEP85L, PLN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1P	GLikely benign
Select item 940239	NM_002667.5(PLN):c.26_29dup (p.Ala11fs)	CEP85L, PLN (A11fs)	Duplication (frameshift variant +1 more)	Dilated cardiomyopathy 1P	GPathogenic
Select item 410617	NM_002667.5(PLN):c.22A>C (p.Thr8Pro)	PLN, CEP85L (T8P)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1P	GUncertain significance
Select item 13636	NM_002667.5(PLN):c.25C>T (p.Arg9Cys)	CEP85L, PLN (R9C)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic
Select item 202037	NM_002667.5(PLN):c.26G>A (p.Arg9His)	CEP85L, PLN (R9H)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 511655	NM_002667.5(PLN):c.27C>A (p.Arg9=)	CEP85L, PLN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1P +1 more	GLikely benign
Select item 44578	NM_002667.5(PLN):c.27C>T (p.Arg9=)	CEP85L, PLN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 464269	NM_002667.5(PLN):c.29C>T (p.Ser10Leu)	CEP85L, PLN (S10L)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1P	GUncertain significance
Select item 2090664	NM_002667.5(PLN):c.31G>C (p.Ala11Pro)	CEP85L, PLN (A11P)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1P	GUncertain significance
Select item 1385567	NM_002667.5(PLN):c.31G>A (p.Ala11Thr)	CEP85L, PLN (A11T)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1P	GUncertain significance
Select item 2742841	NM_002667.5(PLN):c.33T>C (p.Ala11=)	PLN, CEP85L	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1P	GLikely benign
Select item 1733072	NM_002667.5(PLN):c.35dup (p.Arg13fs)	CEP85L, PLN (R13fs)	Duplication (frameshift variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 234806	NM_002667.5(PLN):c.34A>G (p.Ile12Val)	CEP85L, PLN (I12V)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1733083	NM_002667.5(PLN):c.35T>C (p.Ile12Thr)	CEP85L, PLN (I12T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 164972	NM_002667.5(PLN):c.37dup (p.Arg13fs)	CEP85L, PLN (R13fs)	Duplication (frameshift variant +1 more)	not specified	GUncertain significance
Select item 626483	NM_002667.5(PLN):c.36A>G (p.Ile12Met)	PLN, CEP85L (I12M)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1P +1 more	GUncertain significance
Select item 44580	NM_002667.5(PLN):c.37AGA[1] (p.Arg14del)	CEP85L, PLN (R14del)	Microsatellite (inframe_indel +2 more)	SUDDEN INFANT DEATH SYNDROME +6 more	GConflicting classifications of pathogenicity
Select item 1736005	NM_002667.5(PLN):c.38G>A (p.Arg13Lys)	CEP85L, PLN (R13K)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 464270	NM_002667.5(PLN):c.41G>T (p.Arg14Ile)	CEP85L, PLN (R14I)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 44581	NM_002667.5(PLN):c.43G>A (p.Ala15Thr)	CEP85L, PLN (A15T)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2145755	NM_002667.5(PLN):c.45C>A (p.Ala15=)	CEP85L, PLN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2804319	NM_002667.5(PLN):c.51C>A (p.Thr17=)	CEP85L, PLN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 573774	NM_002667.5(PLN):c.53T>C (p.Ile18Thr)	CEP85L, PLN (I18T)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1P +4 more	GUncertain significance
Select item 1415631	NM_002667.5(PLN):c.56A>G (p.Glu19Gly)	CEP85L, PLN (E19G)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1P +1 more	GUncertain significance
Select item 1029623	NM_002667.5(PLN):c.61C>T (p.Pro21Ser)	CEP85L, PLN (P21S)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 18	GUncertain significance
Select item 202039	NM_002667.5(PLN):c.63_64dup (p.Gln22fs)	CEP85L, PLN (Q22fs)	Duplication (frameshift variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 44582	NM_002667.5(PLN):c.61C>A (p.Pro21Thr)	CEP85L, PLN (P21T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1709041	NM_002667.5(PLN):c.63_64del (p.Gln22fs)	CEP85L, PLN (Q22fs)	Deletion (frameshift variant +1 more)	Hypertrophic cardiomyopathy 18	GLikely pathogenic
Select item 229153	NM_002667.5(PLN):c.67C>G (p.Gln23Glu)	CEP85L, PLN (Q23E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2186050	NM_002667.5(PLN):c.69A>G (p.Gln23=)	CEP85L, PLN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1P +1 more	GLikely benign
Select item 202040	NM_002667.5(PLN):c.73C>T (p.Arg25Cys)	CEP85L, PLN (R25C)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 202038	NM_002667.5(PLN):c.73C>G (p.Arg25Gly)	CEP85L, PLN (R25G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 410616	NM_002667.5(PLN):c.74G>A (p.Arg25His)	CEP85L, PLN (R25H)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1346972	NM_002667.5(PLN):c.79A>G (p.Lys27Glu)	CEP85L, PLN (K27E)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1P	GUncertain significance
Select item 949832	NM_002667.5(PLN):c.85C>T (p.Gln29Ter)	CEP85L, PLN (Q29*)	Single nucleotide variant (nonsense +1 more)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 2586350	NM_002667.5(PLN):c.87G>T (p.Gln29His)	PLN, CEP85L (Q29H)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 906402	NM_002667.5(PLN):c.90T>C (p.Asn30=)	CEP85L, PLN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1P	GConflicting classifications of pathogenicity
Select item 1453340	NM_002667.5(PLN):c.95_98del (p.Phe32fs)	CEP85L, PLN (F32fs)	Deletion (frameshift variant +1 more)	Dilated cardiomyopathy 1P	GPathogenic
Select item 2830094	NM_002667.5(PLN):c.94T>C (p.Phe32Leu)	CEP85L, PLN (F32L)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1P	GUncertain significance
Select item 1977709	NM_002667.5(PLN):c.105_106del (p.Phe35fs)	CEP85L, PLN (F35fs)	Deletion (frameshift variant +1 more)	Dilated cardiomyopathy 1P	GPathogenic
Select item 532920	NM_002667.5(PLN):c.113T>C (p.Ile38Thr)	CEP85L, PLN (I38T)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1P	GUncertain significance
Select item 1733517	NM_002667.5(PLN):c.114C>G (p.Ile38Met)	CEP85L, PLN (I38M)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 13637	NM_002667.5(PLN):c.116T>G (p.Leu39Ter)	PLN, CEP85L (L39*)	Single nucleotide variant (nonsense +1 more)	Hypertrophic cardiomyopathy 18 +7 more	GPathogenic/Likely pathogenic
Select item 2136456	NM_002667.5(PLN):c.121T>A (p.Cys41Ser)	CEP85L, PLN (C41S)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1P	GUncertain significance

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