Related gene-specific medical variations for Gene (Select 4001) - ClinVar - NCBI

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Items: 14

	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 2954710	NM_005573.4(LMNB1):c.359+9T>C	LMNB1, LOC129994507	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 2433484	NM_005573.4(LMNB1):c.1490C>T (p.Thr497Ile)	LMNB1 (T287I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2269026	NM_005573.4(LMNB1):c.348G>C (p.Gln116His)	LMNB1, LOC129994507 (Q116H)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	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 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 813713	NM_005573.4(LMNB1):c.1091T>C (p.Leu364Pro)	LMNB1 (L364P +1 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly	GUncertain significance
Select item 747572	NM_005573.4(LMNB1):c.359+7G>A	LMNB1, LOC129994507	Single nucleotide variant (intron variant)	LMNB1-related condition +1 more	GLikely benign
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 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