ClinVar for MedGen (Select 356995) - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2585444	NM_005573.4(LMNB1):c.916C>T (p.Gln306Ter)	LMNB1 (Q306* +1 more)	Single nucleotide variant (nonsense +1 more)	Adult-onset autosomal dominant demyelinating leukodystrophy	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 1803279	NM_005573.4(LMNB1):c.889C>T (p.Arg297Cys)	LMNB1 (R297C +1 more)	Single nucleotide variant (missense variant +1 more)	Adult-onset autosomal dominant demyelinating leukodystrophy	GUncertain significance
Select item 1342147	NC_000005.10:g.126508361_126769360del	ALDH7A1, LMNB1 +9 more	Deletion	Adult-onset autosomal dominant demyelinating leukodystrophy	GPathogenic
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 976612	NM_005573.4(LMNB1):c.1178G>A (p.Ser393Asn)	LMNB1 (S393N +1 more)	Single nucleotide variant (missense variant +1 more)	Adult-onset autosomal dominant demyelinating leukodystrophy	GBenign
Select item 976611	NM_005573.4(LMNB1):c.1161-6A>G	LMNB1	Single nucleotide variant (intron variant)	Adult-onset autosomal dominant demyelinating leukodystrophy	GUncertain significance
Select item 931753	NM_005573.4(LMNB1):c.411A>T (p.Glu137Asp)	LMNB1 (E137D)	Single nucleotide variant (5 prime UTR variant +2 more)	Adult-onset autosomal dominant demyelinating leukodystrophy	GUncertain significance
Select item 907310	NM_005573.4(LMNB1):c.1010G>A (p.Arg337His)	LMNB1 (R337H +1 more)	Single nucleotide variant (missense variant +1 more)	Adult-onset autosomal dominant demyelinating leukodystrophy	GUncertain significance
Select item 907309	NM_005573.4(LMNB1):c.987T>C (p.Ala329=)	LMNB1	Single nucleotide variant (synonymous variant +1 more)	Adult-onset autosomal dominant demyelinating leukodystrophy	GUncertain significance
Select item 907308	NM_005573.4(LMNB1):c.853A>G (p.Thr285Ala)	LMNB1 (T285A +1 more)	Single nucleotide variant (missense variant +1 more)	Adult-onset autosomal dominant demyelinating leukodystrophy	GUncertain significance
Select item 907307	NM_005573.4(LMNB1):c.775C>T (p.Leu259=)	LMNB1	Single nucleotide variant (synonymous variant +1 more)	Adult-onset autosomal dominant demyelinating leukodystrophy	GUncertain significance
Select item 907306	NM_005573.4(LMNB1):c.700C>T (p.Arg234Cys)	LMNB1 (R234C +1 more)	Single nucleotide variant (missense variant +1 more)	Adult-onset autosomal dominant demyelinating leukodystrophy	GBenign
Select item 906365	NM_005573.4(LMNB1):c.*640G>A	LMNB1	Single nucleotide variant (3 prime UTR variant +1 more)	Adult-onset autosomal dominant demyelinating leukodystrophy	GUncertain significance
Select item 906364	NM_005573.4(LMNB1):c.*634A>G	LMNB1	Single nucleotide variant (3 prime UTR variant +1 more)	Adult-onset autosomal dominant demyelinating leukodystrophy	GUncertain significance
Select item 906363	NM_005573.4(LMNB1):c.*631G>A	LMNB1	Single nucleotide variant (3 prime UTR variant +1 more)	Adult-onset autosomal dominant demyelinating leukodystrophy	GUncertain significance
Select item 906362	NM_005573.4(LMNB1):c.*301T>C	LMNB1	Single nucleotide variant (3 prime UTR variant +1 more)	Adult-onset autosomal dominant demyelinating leukodystrophy	GUncertain significance
Select item 906294	NM_005573.4(LMNB1):c.60G>A (p.Thr20=)	LMNB1	Single nucleotide variant (synonymous variant +2 more)	Adult-onset autosomal dominant demyelinating leukodystrophy +1 more	GBenign
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 905854	NM_005573.4(LMNB1):c.*284T>G	LMNB1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 905853	NM_005573.4(LMNB1):c.*270T>C	LMNB1	Single nucleotide variant (3 prime UTR variant +1 more)	Adult-onset autosomal dominant demyelinating leukodystrophy	GUncertain significance
Select item 905852	NM_005573.4(LMNB1):c.*189T>G	LMNB1	Single nucleotide variant (3 prime UTR variant +1 more)	Adult-onset autosomal dominant demyelinating leukodystrophy	GUncertain significance
Select item 905851	NM_005573.4(LMNB1):c.*54A>T	LMNB1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 350628	NM_005573.4(LMNB1):c.*691A>G	LMNB1	Single nucleotide variant (3 prime UTR variant +1 more)	Adult-onset autosomal dominant demyelinating leukodystrophy	GBenign
Select item 350627	NM_005573.4(LMNB1):c.*629G>C	LMNB1	Single nucleotide variant (3 prime UTR variant +1 more)	Adult-onset autosomal dominant demyelinating leukodystrophy	GUncertain significance
Select item 350626	NM_005573.4(LMNB1):c.*629G>A	LMNB1	Single nucleotide variant (3 prime UTR variant +1 more)	Adult-onset autosomal dominant demyelinating leukodystrophy	GUncertain significance
Select item 350625	NM_005573.4(LMNB1):c.*518T>C	LMNB1	Single nucleotide variant (3 prime UTR variant +1 more)	Adult-onset autosomal dominant demyelinating leukodystrophy	GBenign
Select item 350624	NM_005573.4(LMNB1):c.*503A>T	LMNB1	Single nucleotide variant (3 prime UTR variant +1 more)	Adult-onset autosomal dominant demyelinating leukodystrophy	GBenign
Select item 350623	NM_005573.4(LMNB1):c.*239C>T	LMNB1	Single nucleotide variant (3 prime UTR variant +1 more)	Adult-onset autosomal dominant demyelinating leukodystrophy	GBenign
Select item 350622	NM_005573.4(LMNB1):c.*43T>C	LMNB1	Single nucleotide variant (non-coding transcript variant +1 more)	Adult-onset autosomal dominant demyelinating leukodystrophy +1 more	GBenign
Select item 350621	NM_005573.4(LMNB1):c.*15T>C	LMNB1	Single nucleotide variant (3 prime UTR variant +1 more)	Adult-onset autosomal dominant demyelinating leukodystrophy	GBenign
Select item 350620	NM_005573.4(LMNB1):c.1560G>A (p.Ser520=)	LMNB1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 350619	NM_005573.4(LMNB1):c.1492-11G>T	LMNB1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 350618	NM_005573.4(LMNB1):c.1387-3T>C	LMNB1	Single nucleotide variant (intron variant)	Adult-onset autosomal dominant demyelinating leukodystrophy	GUncertain significance
Select item 350617	NM_005573.4(LMNB1):c.1190G>A (p.Arg397His)	LMNB1 (R397H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 350616	NM_005573.4(LMNB1):c.1023C>T (p.Asp341=)	LMNB1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 350615	NM_005573.4(LMNB1):c.676C>T (p.Arg226Cys)	LMNB1 (R226C +1 more)	Single nucleotide variant (missense variant +1 more)	Adult-onset autosomal dominant demyelinating leukodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 350614	NM_005573.4(LMNB1):c.672A>G (p.Glu224=)	LMNB1	Single nucleotide variant (synonymous variant +1 more)	Adult-onset autosomal dominant demyelinating leukodystrophy	GLikely benign
Select item 350613	NM_005573.4(LMNB1):c.642+10T>C	LMNB1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely 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 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 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 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 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 129486	NM_005573.4(LMNB1):c.432G>A (p.Ser144=)	LMNB1	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign
Select item 66615	NM_005573.4(LMNB1):c.852T>C (p.Ser284=)	LMNB1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 66614	NM_005573.4(LMNB1):c.414T>C (p.Tyr138=)	LMNB1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GBenign
Select item 66613	NM_005573.4(LMNB1):c.1502C>T (p.Ala501Val)	LMNB1 (A501V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 66612	NM_005573.4(LMNB1):c.*18C>T	LMNB1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 14476	NC_000005.9:g.(?_126102443)_(126199753_?)dup	LMNB1	Duplication	Adult-onset autosomal dominant demyelinating leukodystrophy	GPathogenic

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Items: 52