55157[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 155225	GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1	LOC129388624, LOC129388625 +407 more	Copy number loss	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 60045	GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1	ADCY10, ANKRD45 +332 more	Copy number loss	See cases	GPathogenic
Select item 60046	GRCh38/hg38 1q24.2-25.1(chr1:168314822-175299299)x1	ANKRD45, ATP1B1 +232 more	Copy number loss	See cases	GPathogenic
Select item 148038	GRCh38/hg38 1q24.2-25.2(chr1:169218236-178075834)x1	ANKRD45, ASTN1 +239 more	Copy number loss	See cases	GPathogenic
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932082, LOC129932083 +561 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	See cases	GPathogenic
Select item 1321897	NC_000001.11:g.172987296_174843232del	KLHL20, LOC129388638 +84 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 1321886	NC_000001.11:g.173501975_175305010del	ANKRD45, CENPL +79 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 1321890	NC_000001.11:g.173686375_176083118del	ANKRD45, CACYBP +88 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 1321913	NC_000001.11:g.173787361_174223422del	CENPL, DARS2 +39 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 874571	NM_018122.5(DARS2):c.-543C>T	CENPL, DARS2	Single nucleotide variant (5 prime UTR variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	GUncertain significance
Select item 293811	NM_018122.5(DARS2):c.-533G>A	DARS2, CENPL	Single nucleotide variant (5 prime UTR variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	GUncertain significance
Select item 293812	NM_018122.5(DARS2):c.-522G>C	CENPL, DARS2	Single nucleotide variant (5 prime UTR variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	GUncertain significance
Select item 874572	NM_018122.5(DARS2):c.-488G>C	CENPL, DARS2	Single nucleotide variant (5 prime UTR variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	GUncertain significance
Select item 874573	NM_018122.5(DARS2):c.-219C>T	DARS2	Single nucleotide variant (5 prime UTR variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	GUncertain significance
Select item 874574	NM_018122.5(DARS2):c.-147A>G	DARS2	Single nucleotide variant (5 prime UTR variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	GUncertain significance
Select item 1453218	NM_018122.5(DARS2):c.6C>G (p.Tyr2Ter)	DARS2 (Y2*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2541726	NM_018122.5(DARS2):c.8T>G (p.Phe3Cys)	DARS2 (F3C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229938	NM_018122.5(DARS2):c.11C>G (p.Pro4Arg)	DARS2 (P4R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 522973	NM_018122.5(DARS2):c.20T>A (p.Leu7Ter)	DARS2 (L7*)	Single nucleotide variant (nonsense)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	GPathogenic
Select item 1162881	NM_018122.5(DARS2):c.29T>C (p.Leu10Pro)	DARS2 (L10P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1939524	NM_018122.5(DARS2):c.31T>C (p.Tyr11His)	DARS2 (Y11H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968462	NM_018122.5(DARS2):c.44C>T (p.Ser15Phe)	DARS2 (S15F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1033469	NM_018122.5(DARS2):c.57A>C (p.Arg19Ser)	DARS2 (R19S)	Single nucleotide variant (missense variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	GUncertain significance
Select item 3237491	NM_018122.5(DARS2):c.65C>T (p.Thr22Ile)	DARS2 (T22I)	Single nucleotide variant (missense variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	GUncertain significance
Select item 2972713	NM_018122.5(DARS2):c.72G>T (p.Pro24=)	DARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2662360	NM_018122.5(DARS2):c.79G>A (p.Gly27Ser)	DARS2 (G27S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2907445	NM_018122.5(DARS2):c.84T>C (p.Ser28=)	DARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2584903	NM_018122.5(DARS2):c.86T>G (p.Leu29Arg)	DARS2 (L29R)	Single nucleotide variant (missense variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	GUncertain significance
Select item 1915175	NM_018122.5(DARS2):c.89A>G (p.Tyr30Cys)	DARS2 (Y30C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1397631	NM_018122.5(DARS2):c.91A>G (p.Arg31Gly)	DARS2 (R31G)	Single nucleotide variant (missense variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome +2 more	GUncertain significance
Select item 2582868	NM_018122.5(DARS2):c.106A>G (p.Ser36Gly)	DARS2 (S36G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3063594	NM_018122.5(DARS2):c.109del (p.Ser37fs)	DARS2 (S37fs)	Deletion (frameshift variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	GPathogenic
Select item 781794	NM_018122.5(DARS2):c.111A>G (p.Ser37=)	DARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3251557	NM_018122.5(DARS2):c.119_120dup (p.Ile41fs)	DARS2 (I41fs)	Microsatellite (frameshift variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	GPathogenic
Select item 224993	NM_018122.5(DARS2):c.127+1G>A	DARS2	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GPathogenic
Select item 1991757	NM_018122.5(DARS2):c.127+24_127+28del	DARS2	Deletion (intron variant)	not provided	GLikely benign
Select item 1223781	NM_018122.5(DARS2):c.127+27A>G	DARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216762	NM_018122.5(DARS2):c.127+88dup	DARS2	Duplication (intron variant)	not provided	GLikely benign
Select item 1198552	NM_018122.5(DARS2):c.127+92_127+93insTATTATTATTATTAT	DARS2	Insertion (intron variant)	not provided	GLikely benign
Select item 1181704	NM_018122.5(DARS2):c.127+92_127+93insTATTATTATTAT	DARS2	Insertion (intron variant)	not provided	GLikely benign
Select item 1244260	NM_018122.5(DARS2):c.127+94ATT[15]	DARS2	Microsatellite (intron variant)	not provided	GBenign
Select item 1226734	NM_018122.5(DARS2):c.127+94ATT[13]	DARS2	Microsatellite (intron variant)	not provided	GBenign
Select item 1222006	NM_018122.5(DARS2):c.127+94ATT[16]	DARS2	Microsatellite (intron variant)	not provided	GBenign
Select item 1179303	NM_018122.5(DARS2):c.127+94ATT[14]	DARS2	Microsatellite (intron variant)	not provided	GBenign
Select item 1221549	NM_018122.5(DARS2):c.127+94ATT[9]	DARS2	Microsatellite (intron variant)	not provided	GBenign
Select item 801577	NM_018122.5(DARS2):c.127+94ATT[10]	DARS2	Microsatellite (intron variant)	not provided +1 more	GBenign
Select item 672595	NM_018122.5(DARS2):c.127+172G>T	DARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669478	NM_018122.5(DARS2):c.127+303C>T	DARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 559193	NM_018122.5(DARS2):c.128-5dup	DARS2	Duplication (intron variant)	not provided	GBenign
Select item 559191	NM_018122.5(DARS2):c.128-6_128-5dup	DARS2	Duplication (intron variant)	not provided	GLikely benign
Select item 559189	NM_018122.5(DARS2):c.128-7_128-5dup	DARS2	Duplication (intron variant)	not provided	GLikely benign
Select item 559188	NM_018122.5(DARS2):c.128-22del	DARS2	Deletion (intron variant)	not provided	GBenign
Select item 1191734	NM_018122.5(DARS2):c.128-21T>C	DARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 559192	NM_018122.5(DARS2):c.128-5del	DARS2	Deletion (intron variant)	not provided	GBenign
Select item 559190	NM_018122.5(DARS2):c.128-6_128-5del	DARS2	Deletion (intron variant)	not provided	GLikely benign
Select item 2749066	NM_018122.5(DARS2):c.128-19T>C	DARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967336	NM_018122.5(DARS2):c.128-18T>C	DARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1669703	NM_018122.5(DARS2):c.128-17T>C	DARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1939491	NM_018122.5(DARS2):c.128-16T>C	DARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982012	NM_018122.5(DARS2):c.128-7T>A	DARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 293813	NM_018122.5(DARS2):c.128-5T>A	DARS2	Single nucleotide variant (intron variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome +2 more	GBenign/Likely benign
Select item 377765	NM_018122.5(DARS2):c.128-4A>T	DARS2	Single nucleotide variant (intron variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1322189	NM_018122.5(DARS2):c.128-1G>T	DARS2	Single nucleotide variant (splice acceptor variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	GLikely pathogenic
Select item 1063	NM_018122.5(DARS2):c.133A>G (p.Ser45Gly)	DARS2 (S45G)	Single nucleotide variant (missense variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	GPathogenic
Select item 3338768	NM_018122.5(DARS2):c.149G>A (p.Arg50Gln)	DARS2 (R50Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 501895	NM_018122.5(DARS2):c.159_160del (p.Cys54fs)	DARS2 (C54fs)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 2691462	NM_018122.5(DARS2):c.161dup (p.Cys54fs)	DARS2 (C54fs)	Duplication (frameshift variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	GPathogenic
Select item 1387029	NM_018122.5(DARS2):c.170T>G (p.Leu57Trp)	DARS2 (L57W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1188834	NM_018122.5(DARS2):c.172C>G (p.Arg58Gly)	DARS2 (R58G)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2179363	NM_018122.5(DARS2):c.173G>A (p.Arg58His)	DARS2 (R58H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2251252	NM_018122.5(DARS2):c.176C>T (p.Ser59Leu)	DARS2 (S59L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 795155	NM_018122.5(DARS2):c.184T>C (p.Leu62=)	DARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 451395	NM_018122.5(DARS2):c.188G>A (p.Gly63Asp)	DARS2 (G63D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2616596	NM_018122.5(DARS2):c.200C>A (p.Thr67Asn)	DARS2 (T67N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1569287	NM_018122.5(DARS2):c.201C>T (p.Thr67=)	DARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 597308	NM_018122.5(DARS2):c.223C>T (p.Arg75Ter)	DARS2 (R75*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1238647	NM_018122.5(DARS2):c.227+28G>T	DARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 559194	NM_018122.5(DARS2):c.227+28_227+29delinsTT	DARS2	Indel (intron variant)	not provided	GBenign
Select item 1240418	NM_018122.5(DARS2):c.227+29C>T	DARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683695	NM_018122.5(DARS2):c.227+245A>G	DARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673680	NM_018122.5(DARS2):c.228-245T>C	DARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 418155	NM_018122.5(DARS2):c.228-20dup	DARS2	Duplication (intron variant)	not provided	GLikely benign
Select item 559196	NM_018122.5(DARS2):c.228-20del	DARS2	Deletion (intron variant)	not provided	GLikely benign
Select item 30862	NM_018122.5(DARS2):c.228-22T>A	DARS2	Single nucleotide variant (intron variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	GPathogenic
Select item 2966382	NM_018122.5(DARS2):c.228-21T>C	DARS2	Single nucleotide variant (intron variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2499836	NM_018122.5(DARS2):c.228-21_228-20delinsCC	DARS2	Indel (intron variant)	not provided	GUncertain significance
Select item 559195	NM_018122.5(DARS2):c.228-21_228-20insC	DARS2	Insertion (intron variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome +1 more	GBenign/Likely benign
Select item 1057	NM_018122.5(DARS2):c.228-21_228-20delinsC	DARS2	Indel (intron variant)	Clubfoot +14 more	GPathogenic
Select item 2020717	NM_018122.5(DARS2):c.228-20_228-18del	DARS2	Deletion (intron variant)	not provided	GLikely benign
Select item 1602633	NM_018122.5(DARS2):c.228-11_228-10dup	DARS2	Duplication (intron variant)	not provided	GBenign
Select item 510081	NM_018122.5(DARS2):c.228-20delinsCC	DARS2	Indel (intron variant)	not specified	GLikely benign
Select item 418156	NM_018122.5(DARS2):c.228-10dup	DARS2	Duplication (intron variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome +1 more	GBenign/Likely benign
Select item 137068	NM_018122.5(DARS2):c.228-20T>C	DARS2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 418157	NM_018122.5(DARS2):c.228-10del	DARS2	Deletion (intron variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome +1 more	GBenign

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