6637[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	LOC129994523, LOC129994524 +683 more	Copy number loss	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 more	Copy number loss	See cases	GPathogenic
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 150374	GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1	LOC129389350, LOC129389351 +377 more	Copy number loss	See cases	GPathogenic
Select item 146237	GRCh38/hg38 5q22.1-23.2(chr5:111463016-127193038)x1	ALDH7A1, AP3S1 +317 more	Copy number loss	See cases	GPathogenic
Select item 59673	GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1	LOC129994580, LOC129994581 +336 more	Copy number loss	See cases	GPathogenic
Select item 58355	GRCh38/hg38 5q23.1-23.2(chr5:120739630-126823984)x1	ALDH7A1, CEP120 +105 more	Copy number loss	See cases	GPathogenic
Select item 147446	GRCh38/hg38 5q23.2(chr5:122479268-126833168)x1	ALDH7A1, CEP120 +86 more	Copy number loss	See cases	GUncertain significance
Select item 148931	GRCh38/hg38 5q23.2(chr5:125372857-126839014)x3	ALDH7A1, GRAMD2B +27 more	Copy number gain	See cases	GUncertain significance
Select item 58356	GRCh38/hg38 5q23.2-31.1(chr5:126438406-132873967)x1	LOC129994513, LOC129994514 +200 more	Copy number loss	See cases	GPathogenic
Select item 58357	GRCh38/hg38 5q23.2-23.3(chr5:126458947-128537986)x1	ALDH7A1, C5orf63 +49 more	Copy number loss	See cases	GPathogenic
Select item 1342147	NC_000005.10:g.126508361_126769360del	ALDH7A1, LMNB1 +9 more	Deletion	Adult-onset autosomal dominant demyelinating leukodystrophy	GPathogenic
Select item 147781	GRCh38/hg38 5q23.2(chr5:126657759-126923623)x3	LMNB1, LMNB1-DT +10 more	Copy number gain	See cases	GPathogenic
Select item 1236431	NC_000005.10:g.126776437C>G	LMNB1, LMNB1-DT	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1181682	NC_000005.10:g.126776449G>A	LMNB1, LMNB1-DT	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1179859	NC_000005.10:g.126776461C>A	LMNB1, LMNB1-DT	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1235155	NC_000005.10:g.126776477T>C	LMNB1, LMNB1-DT	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1268403	NC_000005.10:g.126776591C>A	LMNB1	Single nucleotide variant	not provided	GBenign
Select item 369447	NM_005573.3(LMNB1):c.-894C>T	LMNB1	Single nucleotide variant	Leukodystrophy, Adult-Onset	GLikely benign
Select item 350594	NM_005573.3(LMNB1):c.-708G>C	LMNB1	Single nucleotide variant (non-coding transcript variant)	Leukodystrophy, Adult-Onset	GUncertain significance
Select item 350595	NM_005573.3(LMNB1):c.-705G>T	LMNB1	Single nucleotide variant (non-coding transcript variant)	Leukodystrophy, Adult-Onset	GUncertain significance
Select item 350596	NM_005573.3(LMNB1):c.-701C>T	LMNB1	Single nucleotide variant (non-coding transcript variant)	Leukodystrophy, Adult-Onset	GUncertain significance
Select item 350597	NM_005573.3(LMNB1):c.-688G>A	LMNB1	Single nucleotide variant (non-coding transcript variant)	Leukodystrophy, Adult-Onset	GUncertain significance
Select item 350598	NM_005573.3(LMNB1):c.-635T>C	LMNB1	Single nucleotide variant (non-coding transcript variant)	Leukodystrophy, Adult-Onset	GLikely benign
Select item 350599	NM_005573.3(LMNB1):c.-621T>C	LMNB1	Single nucleotide variant (non-coding transcript variant)	Leukodystrophy, Adult-Onset	GBenign
Select item 350600	NM_005573.3(LMNB1):c.-595G>A	LMNB1	Single nucleotide variant (non-coding transcript variant)	Leukodystrophy, Adult-Onset	GLikely benign
Select item 350601	NM_005573.3(LMNB1):c.-583G>C	LMNB1	Single nucleotide variant (non-coding transcript variant)	Leukodystrophy, Adult-Onset +1 more	GConflicting classifications of pathogenicity
Select item 350602	NM_005573.3(LMNB1):c.-577C>T	LMNB1	Single nucleotide variant (non-coding transcript variant)	Leukodystrophy, Adult-Onset	GLikely benign
Select item 350603	NM_005573.3(LMNB1):c.-552G>A	LMNB1	Single nucleotide variant (non-coding transcript variant)	Leukodystrophy, Adult-Onset	GUncertain significance
Select item 350604	NM_005573.3(LMNB1):c.-540G>A	LMNB1	Single nucleotide variant (non-coding transcript variant)	Leukodystrophy, Adult-Onset	GUncertain significance
Select item 350605	NM_005573.3(LMNB1):c.-491T>C	LMNB1	Single nucleotide variant (non-coding transcript variant)	Leukodystrophy, Adult-Onset	GLikely benign
Select item 350606	NM_005573.3(LMNB1):c.-437C>G	LMNB1	Single nucleotide variant (non-coding transcript variant)	Leukodystrophy, Adult-Onset	GUncertain significance
Select item 350607	NM_005573.3(LMNB1):c.-382C>G	LMNB1	Single nucleotide variant (non-coding transcript variant)	Leukodystrophy, Adult-Onset	GUncertain significance
Select item 350608	NM_005573.4(LMNB1):c.-314C>T	LMNB1	Single nucleotide variant (5 prime UTR variant +1 more)	Adult-onset autosomal dominant demyelinating leukodystrophy	GBenign
Select item 350609	NM_005573.4(LMNB1):c.-298G>T	LMNB1	Single nucleotide variant (5 prime UTR variant +1 more)	Adult-onset autosomal dominant demyelinating leukodystrophy	GBenign
Select item 350610	NM_005573.4(LMNB1):c.-159C>G	LMNB1	Single nucleotide variant (5 prime UTR variant +2 more)	Adult-onset autosomal dominant demyelinating leukodystrophy	GUncertain significance
Select item 906293	NM_005573.4(LMNB1):c.-76G>T	LMNB1	Single nucleotide variant (5 prime UTR variant +2 more)	Adult-onset autosomal dominant demyelinating leukodystrophy	GUncertain significance
Select item 1697142	NM_005573.4(LMNB1):c.1A>G (p.Met1Val)	LMNB1 (M1V)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1188065	NM_005573.4(LMNB1):c.13A>G (p.Thr5Ala)	LMNB1 (T5A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1976718	NM_005573.4(LMNB1):c.15C>T (p.Thr5=)	LMNB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2234603	NM_005573.4(LMNB1):c.16C>T (p.Pro6Ser)	LMNB1 (P6S)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2960650	NM_005573.4(LMNB1):c.18C>T (p.Pro6=)	LMNB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3119312	NM_005573.4(LMNB1):c.23C>A (p.Pro8Gln)	LMNB1 (P8Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1563912	NM_005573.4(LMNB1):c.29G>T (p.Arg10Leu)	LMNB1 (R10L)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 1529587	NM_005573.4(LMNB1):c.36C>T (p.Gly12=)	LMNB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2011251	NM_005573.4(LMNB1):c.37A>C (p.Ser13Arg)	LMNB1 (S13R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2504018	NM_005573.4(LMNB1):c.43G>A (p.Ala15Thr)	LMNB1 (A15T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 906294	NM_005573.4(LMNB1):c.60G>A (p.Thr20=)	LMNB1	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign
Select item 1304339	NM_005573.4(LMNB1):c.72del (p.Thr25fs)	LMNB1 (T25fs)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 2978393	NM_005573.4(LMNB1):c.74C>T (p.Thr25Met)	LMNB1 (T25M)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3065585	NM_005573.4(LMNB1):c.89T>A (p.Leu30His)	LMNB1 (L30H)	Single nucleotide variant (missense variant +2 more)	Adult-onset autosomal dominant demyelinating leukodystrophy	GUncertain significance
Select item 2205569	NM_005573.4(LMNB1):c.94_96del (p.Glu32del)	LMNB1 (E32del)	Deletion (inframe_deletion +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1660905	NM_005573.4(LMNB1):c.93G>A (p.Gln31=)	LMNB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3343965	NM_005573.4(LMNB1):c.97_99del (p.Lys33del)	LMNB1 (K33del)	Deletion (inframe_deletion +2 more)	not provided	GPathogenic
Select item 915455	NM_005573.4(LMNB1):c.97A>G (p.Lys33Glu)	LMNB1 (K33E)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GPathogenic
Select item 2575710	NM_005573.4(LMNB1):c.100GAG[1] (p.Glu35del)	LMNB1 (E35del)	Microsatellite (inframe_deletion +2 more)	not provided	GUncertain significance
Select item 1375901	NM_005573.4(LMNB1):c.112G>A (p.Glu38Lys)	LMNB1 (E38K)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1338029	NM_005573.4(LMNB1):c.123C>T (p.Asp41=)	LMNB1	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GBenign/Likely benign
Select item 915456	NM_005573.4(LMNB1):c.124C>T (p.Arg42Trp)	LMNB1 (R42W)	Single nucleotide variant (missense variant +2 more)	Microcephaly 26, primary, autosomal dominant +1 more	GPathogenic
Select item 1548698	NM_005573.4(LMNB1):c.129G>A (p.Leu43=)	LMNB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 350611	NM_005573.4(LMNB1):c.141C>T (p.Ile47=)	LMNB1	Single nucleotide variant (synonymous variant +2 more)	Adult-onset autosomal dominant demyelinating leukodystrophy +1 more	GBenign
Select item 1698235	NM_005573.4(LMNB1):c.151C>T (p.Arg51Cys)	LMNB1 (R51C)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2047024	NM_005573.4(LMNB1):c.154A>G (p.Ser52Gly)	LMNB1 (S52G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2433485	NM_005573.4(LMNB1):c.164C>G (p.Thr55Arg)	LMNB1 (T55R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 780563	NM_005573.4(LMNB1):c.165G>A (p.Thr55=)	LMNB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3290962	NM_005573.4(LMNB1):c.173G>A (p.Ser58Asn)	LMNB1 (S58N)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1449579	NM_005573.4(LMNB1):c.179T>G (p.Leu60Arg)	LMNB1 (L60R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3119311	NM_005573.4(LMNB1):c.206A>G (p.Glu69Gly)	LMNB1 (E69G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1988976	NM_005573.4(LMNB1):c.207G>A (p.Glu69=)	LMNB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2655666	NM_005573.4(LMNB1):c.212G>A (p.Arg71His)	LMNB1 (R71H)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2582601	NM_005573.4(LMNB1):c.227C>T (p.Thr76Ile)	LMNB1 (T76I)	Single nucleotide variant (missense variant +2 more)	Adult-onset autosomal dominant demyelinating leukodystrophy	GUncertain significance
Select item 2539619	NM_005573.4(LMNB1):c.232C>T (p.Leu78Phe)	LMNB1 (L78F)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2025949	NM_005573.4(LMNB1):c.241C>T (p.Leu81Phe)	LMNB1 (L81F)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2433486	NM_005573.4(LMNB1):c.251C>T (p.Thr84Ile)	LMNB1 (T84I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2510402	NM_005573.4(LMNB1):c.266C>T (p.Ala89Val)	LMNB1 (A89V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 997433	NM_005573.4(LMNB1):c.269G>C (p.Arg90Pro)	LMNB1 (R90P)	Single nucleotide variant (missense variant +2 more)	Microcephaly 26, primary, autosomal dominant	GPathogenic
Select item 740660	NM_005573.4(LMNB1):c.279C>G (p.Leu93=)	LMNB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 350612	NM_005573.4(LMNB1):c.279C>T (p.Leu93=)	LMNB1	Single nucleotide variant (synonymous variant +2 more)	Adult-onset autosomal dominant demyelinating leukodystrophy +1 more	GBenign
Select item 1653033	NM_005573.4(LMNB1):c.288G>C (p.Thr96=)	LMNB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 1388273	NM_005573.4(LMNB1):c.292C>T (p.Arg98Cys)	LMNB1 (R98C)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 722338	NM_005573.4(LMNB1):c.294C>G (p.Arg98=)	LMNB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1511383	NM_005573.4(LMNB1):c.313A>C (p.Ile105Leu)	LMNB1 (I105L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2307987	NM_005573.4(LMNB1):c.338A>G (p.Glu113Gly)	LMNB1 (E113G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2328028	NM_005573.4(LMNB1):c.340C>T (p.His114Tyr)	LMNB1 (H114Y)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2269026	NM_005573.4(LMNB1):c.348G>C (p.Gln116His)	LMNB1, LOC129994507 (Q116H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 669047	NM_005573.4(LMNB1):c.359+3G>A	LMNB1, LOC129994507	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 747572	NM_005573.4(LMNB1):c.359+7G>A	LMNB1, LOC129994507	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2954710	NM_005573.4(LMNB1):c.359+9T>C	LMNB1, LOC129994507	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 150408	GRCh38/hg38 5q23.2(chr5:126786744-126797308)x1	LMNB1	Copy number loss	See cases	GLikely benign
Select item 146768	GRCh38/hg38 5q23.2(chr5:126786744-126801470)x3	LMNB1	Copy number gain	See cases	GUncertain significance
Select item 1222976	NM_005573.4(LMNB1):c.360-118A>G	LMNB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1170530	NM_005573.4(LMNB1):c.360-19C>T	LMNB1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1032338	NM_005573.4(LMNB1):c.360-8T>C	LMNB1	Single nucleotide variant (intron variant)	Adult-onset autosomal dominant demyelinating leukodystrophy	GUncertain significance
Select item 1545698	NM_005573.4(LMNB1):c.360-4C>G	LMNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1542055	NM_005573.4(LMNB1):c.360-4C>T	LMNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3234997	NM_005573.4(LMNB1):c.382C>G (p.Leu128Val)	LMNB1 (L128V)	Single nucleotide variant (5 prime UTR variant +2 more)	Microcephaly 26, primary, autosomal dominant	GUncertain significance
Select item 3119313	NM_005573.4(LMNB1):c.385A>G (p.Asn129Asp)	LMNB1 (N129D)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2631298	NM_005573.4(LMNB1):c.386A>T (p.Asn129Ile)	LMNB1 (N129I)	Single nucleotide variant (5 prime UTR variant +2 more)	LMNB1-related disorder	GUncertain significance
Select item 1523209	NM_005573.4(LMNB1):c.391G>A (p.Ala131Thr)	LMNB1 (A131T)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2039001	NM_005573.4(LMNB1):c.401A>G (p.Lys134Arg)	LMNB1 (K134R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance

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