51520[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 150685	GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3	ABLIM3, ADRB2 +313 more	Copy number gain	See cases	GPathogenic
Select item 147500	GRCh38/hg38 5q32(chr5:145197355-148541511)x1	C5orf46, CTB-99A3.1 +82 more	Copy number loss	See cases	GPathogenic
Select item 1207166	NM_020117.11(LARS1):c.*147T>G	LARS1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 514450	NM_020117.11(LARS1):c.3504C>T (p.Gly1168=)	LARS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2421793	NM_020117.11(LARS1):c.3500T>C (p.Ile1167Thr)	LARS1 (I1113T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2079187	NM_020117.11(LARS1):c.3463A>G (p.Lys1155Glu)	LARS1 (K1155E +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3290161	NM_020117.11(LARS1):c.3443A>G (p.Asn1148Ser)	LARS1 (N1094S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3537359	NM_020117.11(LARS1):c.3431A>G (p.His1144Arg)	LARS1 (H1144R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117911	NM_020117.11(LARS1):c.3425C>T (p.Ser1142Phe)	LARS1 (S1115F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 379869	NM_020117.11(LARS1):c.3409G>A (p.Glu1137Lys)	LARS1 (E1137K +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2076641	NM_020117.11(LARS1):c.3385C>T (p.Pro1129Ser)	LARS1 (P1102S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3117910	NM_020117.11(LARS1):c.3380G>A (p.Arg1127Gln)	LARS1 (R1081Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1680381	NM_020117.11(LARS1):c.3379C>T (p.Arg1127Ter)	LARS1 (R1073* +3 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3341323	NM_020117.11(LARS1):c.3377G>A (p.Arg1126Gln)	LARS1 (R1072Q +3 more)	Single nucleotide variant (missense variant)	Infantile liver failure syndrome 1	GUncertain significance
Select item 214570	NM_020117.11(LARS1):c.3336A>G (p.Lys1112=)	LARS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 384890	NM_020117.11(LARS1):c.3326-3T>C	LARS1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1252852	NM_020117.11(LARS1):c.3326-194C>T	LARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 684235	NM_020117.11(LARS1):c.3326-210C>G	LARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281332	NM_020117.11(LARS1):c.3325+157G>C	LARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197032	NM_020117.11(LARS1):c.3325+82C>G	LARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3362591	NM_020117.11(LARS1):c.3325+1del	LARS1	Deletion (splice donor variant)	Infantile liver failure syndrome 1	GLikely pathogenic
Select item 3290164	NM_020117.11(LARS1):c.3314G>C (p.Arg1105Pro)	LARS1 (R1078P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2413083	NM_020117.11(LARS1):c.3314G>A (p.Arg1105Gln)	LARS1 (R1051Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214577	NM_020117.11(LARS1):c.3313C>T (p.Arg1105Ter)	LARS1 (R1105* +3 more)	Single nucleotide variant (nonsense)	Infantile liver failure syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 3117909	NM_020117.11(LARS1):c.3311A>G (p.Asn1104Ser)	LARS1 (N1050S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117907	NM_020117.11(LARS1):c.3295C>T (p.Arg1099Cys)	LARS1 (R1072C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1200949	NM_020117.11(LARS1):c.3289A>G (p.Ile1097Val)	LARS1 (I1043V +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2545411	NM_020117.11(LARS1):c.3288A>G (p.Ile1096Met)	LARS1 (I1096M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1343694	NM_020117.11(LARS1):c.3286A>G (p.Ile1096Val)	LARS1 (I1042V +3 more)	Single nucleotide variant (missense variant)	Infantile liver failure syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 138099	NM_020117.11(LARS1):c.3263G>A (p.Arg1088Lys)	LARS1 (R1088K +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2682517	NM_020117.11(LARS1):c.3240C>G (p.His1080Gln)	LARS1 (H1026Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3342961	NM_020117.11(LARS1):c.3218A>G (p.Asn1073Ser)	LARS1 (N1019S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3537362	NM_020117.11(LARS1):c.3215T>G (p.Val1072Gly)	LARS1 (V1018G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 733220	NM_020117.11(LARS1):c.3205G>A (p.Val1069Ile)	LARS1 (V1042I +3 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2990959	NM_020117.11(LARS1):c.3204C>T (p.Ser1068=)	LARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 715803	NM_020117.11(LARS1):c.3193-10G>A	LARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 214569	NM_020117.11(LARS1):c.3193-18T>G	LARS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1275237	NM_020117.11(LARS1):c.3193-35C>G	LARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248132	NM_020117.11(LARS1):c.3193-91T>C	LARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258433	NM_020117.11(LARS1):c.3193-328A>G	LARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215181	NM_020117.11(LARS1):c.3192+279A>G	LARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195445	NM_020117.11(LARS1):c.3192+217T>G	LARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211695	NM_020117.11(LARS1):c.3192+204del	LARS1	Deletion (intron variant)	not provided	GLikely benign
Select item 2182795	NM_020117.11(LARS1):c.3190G>C (p.Glu1064Gln)	LARS1 (E1010Q +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1680382	NM_020117.11(LARS1):c.3132A>G (p.Ala1044=)	LARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 515008	NM_020117.11(LARS1):c.3126C>T (p.Ser1042=)	LARS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1707961	NM_020117.11(LARS1):c.3116A>G (p.Lys1039Arg)	LARS1 (K1012R +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 506828	NM_020117.11(LARS1):c.3097-10G>A	LARS1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 378077	NM_020117.11(LARS1):c.3097-11C>T	LARS1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1296565	NM_020117.11(LARS1):c.3097-179C>T	LARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272341	NM_020117.11(LARS1):c.3097-196C>G	LARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 378076	NM_020117.11(LARS1):c.3090G>A (p.Ser1030=)	LARS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1940506	NM_020117.11(LARS1):c.3089C>T (p.Ser1030Leu)	LARS1 (S976L +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2623239	NM_020117.11(LARS1):c.3079C>G (p.Leu1027Val)	LARS1 (L1027V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 214568	NM_020117.11(LARS1):c.3077A>G (p.Tyr1026Cys)	LARS1 (Y1026C +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2196417	NM_020117.11(LARS1):c.3066G>C (p.Glu1022Asp)	LARS1 (E1022D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 388497	NM_020117.11(LARS1):c.3064G>C (p.Glu1022Gln)	LARS1 (E1022Q +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2578255	NM_020117.11(LARS1):c.3061A>C (p.Met1021Leu)	LARS1 (M1021L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 739753	NM_020117.11(LARS1):c.3048A>G (p.Glu1016=)	LARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3378324	NM_020117.11(LARS1):c.3016_3017delinsAT (p.Arg1006Ile)	LARS1 (R1006I +3 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 2495851	NM_020117.11(LARS1):c.3017G>A (p.Arg1006His)	LARS1 (R952H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2796193	NM_020117.11(LARS1):c.3012G>T (p.Gly1004=)	LARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2126640	NM_020117.11(LARS1):c.3009G>A (p.Met1003Ile)	LARS1 (M1003I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3117905	NM_020117.11(LARS1):c.3007A>T (p.Met1003Leu)	LARS1 (M1003L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1273361	NM_020117.11(LARS1):c.2992-309del	LARS1	Deletion (intron variant)	not provided	GBenign
Select item 1218286	NM_020117.11(LARS1):c.2991+320A>G	LARS1, LOC132089170	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670036	NM_020117.11(LARS1):c.2991+239T>C	LARS1, LOC132089170	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199555	NM_020117.11(LARS1):c.2991+76C>T	LARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 741119	NM_020117.11(LARS1):c.2967C>T (p.Val989=)	LARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3117903	NM_020117.11(LARS1):c.2966T>C (p.Val989Ala)	LARS1 (V962A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1923852	NM_020117.11(LARS1):c.2937G>A (p.Met979Ile)	LARS1 (M979I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1906904	NM_020117.11(LARS1):c.2936T>C (p.Met979Thr)	LARS1 (M925T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214567	NM_020117.11(LARS1):c.2915T>C (p.Ile972Thr)	LARS1 (I972T +3 more)	Single nucleotide variant (missense variant)	not specified	GConflicting classifications of pathogenicity
Select item 3117902	NM_020117.11(LARS1):c.2906A>G (p.Asn969Ser)	LARS1 (N942S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2180249	NM_020117.11(LARS1):c.2890G>A (p.Gly964Arg)	LARS1 (G910R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1702695	NM_020117.11(LARS1):c.2889del (p.Asn963fs)	LARS1 (N909fs +3 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 138098	NM_020117.11(LARS1):c.2889C>T (p.Asn963=)	LARS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 214566	NM_020117.11(LARS1):c.2885A>G (p.Asn962Ser)	LARS1 (N962S +3 more)	Single nucleotide variant (missense variant)	not specified	GConflicting classifications of pathogenicity
Select item 2964093	NM_020117.11(LARS1):c.2881-16T>G	LARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200948	NM_020117.11(LARS1):c.2881-39dup	LARS1	Duplication (intron variant)	not provided	GLikely benign
Select item 1233541	NM_020117.11(LARS1):c.2881-140G>A	LARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 684234	NM_020117.11(LARS1):c.2880+334A>G	LARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670035	NM_020117.11(LARS1):c.2880+173_2880+187del	LARS1	Deletion (intron variant)	not provided	GBenign
Select item 1988888	NM_020117.11(LARS1):c.2880+11C>T	LARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 516146	NM_020117.11(LARS1):c.2880+6G>T	LARS1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 3117900	NM_020117.11(LARS1):c.2880+5T>G	LARS1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3370068	NM_020117.11(LARS1):c.2866C>T (p.Arg956Cys)	LARS1 (R902C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 759166	NM_020117.11(LARS1):c.2856G>C (p.Leu952=)	LARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3117899	NM_020117.11(LARS1):c.2843A>G (p.Gln948Arg)	LARS1 (Q902R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1910104	NM_020117.11(LARS1):c.2831A>G (p.Tyr944Cys)	LARS1 (Y890C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 138097	NM_020117.11(LARS1):c.2817T>C (p.Tyr939=)	LARS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 418282	NM_020117.11(LARS1):c.2816A>G (p.Tyr939Cys)	LARS1 (Y939C +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2031316	NM_020117.11(LARS1):c.2792A>G (p.Gln931Arg)	LARS1 (Q877R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690634	NM_020117.11(LARS1):c.2781del (p.Lys927fs)	LARS1 (K873fs +3 more)	Deletion (frameshift variant)	Infantile liver failure syndrome 1	GLikely pathogenic
Select item 3117898	NM_020117.11(LARS1):c.2776G>A (p.Asp926Asn)	LARS1 (D872N +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 138096	NM_020117.11(LARS1):c.2775T>C (p.Thr925=)	LARS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1343775	NM_020117.11(LARS1):c.2770-2A>G	LARS1	Single nucleotide variant (splice acceptor variant)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +1 more	GConflicting classifications of pathogenicity

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