ClinVar for MedGen (Select 1779629) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 10

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24442311.	NM_005573.4(LMNB1):c.814-1G>T GRCh37: Chr5:126147464 GRCh38: Chr5:126811772	LMNB1		Microcephaly 26, primary, autosomal dominant	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24433392.	NM_005573.4(LMNB1):c.455C>T (p.Ala152Val) GRCh37: Chr5:126140563 GRCh38: Chr5:126804871	LMNB1	A152V	Microcephaly 26, primary, autosomal dominant	Likely benign (Jan 4, 2021)	criteria provided, single submitter
Select item 13391833.	NM_005573.4(LMNB1):c.1138C>T (p.Leu380Phe) GRCh37: Chr5:126154812 GRCh38: Chr5:126819120	LMNB1	L170F, L380F	Microcephaly 26, primary, autosomal dominant	Uncertain significance	criteria provided, single submitter
Select item 11705304.	NM_005573.4(LMNB1):c.360-19C>T GRCh37: Chr5:126140449 GRCh38: Chr5:126804757	LMNB1		not provided, Microcephaly 26, primary, autosomal dominant, Adult-onset autosomal dominant demyelinating leukodystrophy	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9974335.	NM_005573.4(LMNB1):c.269G>C (p.Arg90Pro) GRCh37: Chr5:126113469 GRCh38: Chr5:126777777	LMNB1	R90P	Microcephaly 26, primary, autosomal dominant	Pathogenic (Jan 13, 2023)	no assertion criteria provided
Select item 9154586.	NM_005573.4(LMNB1):c.939+2362_1491+560del GRCh37: Chr5:126149951-126159136 GRCh38: Chr5:126814259-126823444	LMNB1		Microcephaly 26, primary, autosomal dominant, Syndrome with microcephaly as major feature	Pathogenic (Feb 19, 2021)	no assertion criteria provided
Select item 9154577.	NM_005573.4(LMNB1):c.939+1G>A GRCh37: Chr5:126147591 GRCh38: Chr5:126811899	LMNB1		Microcephaly 26, primary, autosomal dominant, Syndrome with microcephaly as major feature	Pathogenic (Feb 19, 2021)	no assertion criteria provided
Select item 9154568.	NM_005573.4(LMNB1):c.124C>T (p.Arg42Trp) GRCh37: Chr5:126113324 GRCh38: Chr5:126777632	LMNB1	R42W	not provided, Microcephaly 26, primary, autosomal dominant	Pathogenic (Mar 3, 2023)	criteria provided, multiple submitters, no conflicts
Select item 9154559.	NM_005573.4(LMNB1):c.97A>G (p.Lys33Glu) GRCh37: Chr5:126113297 GRCh38: Chr5:126777605	LMNB1	K33E	Microcephaly 26, primary, autosomal dominant, Inborn genetic diseases	Pathogenic (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91545410.	NM_005573.4(LMNB1):c.455C>G (p.Ala152Gly) GRCh37: Chr5:126140563 GRCh38: Chr5:126804871	LMNB1	A152G	Microcephaly 26, primary, autosomal dominant, Syndrome with microcephaly as major feature	Pathogenic (Feb 19, 2021)	no assertion criteria provided