21638[HGNC] - 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 1319032	NM_001042475.3(CEP85L):c.2381A>G (p.Tyr794Cys)	CEP85L (Y794C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2395238	NM_001042475.3(CEP85L):c.2347A>G (p.Ile783Val)	CEP85L (I786V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2439914	NM_001042475.3(CEP85L):c.2135T>C (p.Ile712Thr)	CEP85L (I712T +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 10	GUncertain significance
Select item 3064370	NM_001042475.3(CEP85L):c.2089C>T (p.Gln697Ter)	CEP85L (Q697* +1 more)	Single nucleotide variant (nonsense)	Lissencephaly 10	GLikely pathogenic
Select item 2664222	NM_001042475.3(CEP85L):c.1994T>C (p.Val665Ala)	CEP85L (V665A +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 10	GUncertain significance
Select item 2656882	NM_001042475.3(CEP85L):c.1961T>C (p.Met654Thr)	CEP85L (M654T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2577620	NM_001042475.3(CEP85L):c.1914+1G>T	CEP85L	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2656883	NM_001042475.3(CEP85L):c.1877A>G (p.Gln626Arg)	CEP85L (Q626R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439917	NM_001042475.3(CEP85L):c.1871_1874del (p.Asp624fs)	CEP85L (D624fs +1 more)	Deletion (frameshift variant)	Lissencephaly 10	GUncertain significance
Select item 2221035	NM_001042475.3(CEP85L):c.1708A>G (p.Lys570Glu)	CEP85L (K573E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3026134	NM_001042475.3(CEP85L):c.1680A>G (p.Gln560=)	CEP85L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2629138	NM_001042475.3(CEP85L):c.1661A>C (p.Glu554Ala)	CEP85L (E554A +1 more)	Single nucleotide variant (missense variant)	CEP85L-related disorder	GUncertain significance
Select item 2211742	NM_001042475.3(CEP85L):c.1600C>G (p.Leu534Val)	CEP85L (L537V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2439916	NM_001042475.3(CEP85L):c.1590+3A>T	CEP85L	Single nucleotide variant (intron variant)	Lissencephaly 10	GUncertain significance
Select item 2499762	NM_001042475.3(CEP85L):c.1568A>G (p.Asp523Gly)	CEP85L (D523G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662008	NM_001042475.3(CEP85L):c.1489G>T (p.Glu497Ter)	CEP85L (E497* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3060866	NM_001042475.3(CEP85L):c.1437+64_1437+67del	CEP85L	Microsatellite (3 prime UTR variant +1 more)	CEP85L-related disorder	GLikely benign
Select item 3143075	NM_001042475.3(CEP85L):c.1421A>G (p.Lys474Arg)	CEP85L (K477R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2656884	NM_001042475.3(CEP85L):c.1395A>G (p.Arg465=)	CEP85L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3051106	NM_001042475.3(CEP85L):c.1306G>A (p.Val436Ile)	CEP85L (V436I +1 more)	Single nucleotide variant (missense variant)	CEP85L-related disorder	GLikely benign
Select item 3266281	NM_001042475.3(CEP85L):c.1294T>G (p.Ser432Ala)	CEP85L (S432A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2671640	NM_001042475.3(CEP85L):c.1262A>C (p.Gln421Pro)	CEP85L (Q421P +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 10	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 2481413	NM_001042475.3(CEP85L):c.1193G>A (p.Arg398Gln)	CEP85L (R401Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3143073	NM_001042475.3(CEP85L):c.1192C>T (p.Arg398Trp)	CEP85L (R398W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2218023	NM_001042475.3(CEP85L):c.1163T>A (p.Leu388Gln)	CEP85L (L388Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3266282	NM_001042475.3(CEP85L):c.1160A>G (p.His387Arg)	CEP85L (H387R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1704725	NM_001042475.3(CEP85L):c.1135G>A (p.Asp379Asn)	CEP85L (D379N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2540801	NM_001042475.3(CEP85L):c.1115G>A (p.Arg372Lys)	CEP85L (R375K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2439915	NM_001042475.3(CEP85L):c.1103A>G (p.Glu368Gly)	CEP85L (E368G +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 10	GUncertain significance
Select item 2632499	NM_001042475.3(CEP85L):c.1047T>G (p.Ser349Arg)	CEP85L (S349R +1 more)	Single nucleotide variant (missense variant)	CEP85L-related disorder	GUncertain significance
Select item 3143072	NM_001042475.3(CEP85L):c.1039C>T (p.Arg347Cys)	CEP85L (R347C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1330390	NM_001042475.3(CEP85L):c.1020+17468G>A	CEP85L	Single nucleotide variant (intron variant)	Lissencephaly 10	GLikely benign
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	NM_001042475.3(CEP85L):c.1020+17353T>C	CEP85L, PLN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1P	GUncertain significance
Select item 1504806	NM_001042475.3(CEP85L):c.1020+17347A>G	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	NM_001042475.3(CEP85L):c.1020+17310T>C	CEP85L, PLN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1P	GUncertain significance
Select item 239212	NM_001042475.3(CEP85L):c.1020+17280C>A	CEP85L, PLN	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 220851	NM_001042475.3(CEP85L):c.1020+17275G>C	CEP85L, PLN	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)	Lissencephaly 10 +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	CEP85L, PLN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 355136	NM_002667.5(PLN):c.-97-5T>C	CEP85L, PLN	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)	CEP85L, PLN (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)	PLN, CEP85L (R9C)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +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)	not specified +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)	not specified +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)	Cardiomyopathy +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

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