ClinVar for MedGen (Select 1779629) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3254809	NM_005573.4(LMNB1):c.1283G>C (p.Ser428Thr)	LMNB1 (S218T +1 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 26, primary, autosomal dominant	GUncertain significance
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 2599057	NM_005573.4(LMNB1):c.1361T>C (p.Ile454Thr)	LMNB1 (I454T +1 more)	Single nucleotide variant (missense variant +1 more)	LMNB1-related disorder +2 more	GUncertain significance
Select item 2444231	NM_005573.4(LMNB1):c.814-1G>T	LMNB1	Single nucleotide variant (splice acceptor variant)	Microcephaly 26, primary, autosomal dominant	GLikely pathogenic
Select item 2443339	NM_005573.4(LMNB1):c.455C>T (p.Ala152Val)	LMNB1 (A152V)	Single nucleotide variant (5 prime UTR variant +2 more)	Microcephaly 26, primary, autosomal dominant	GLikely benign
Select item 1339183	NM_005573.4(LMNB1):c.1138C>T (p.Leu380Phe)	LMNB1 (L170F +1 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 26, primary, autosomal dominant	GUncertain significance
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 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 915458	NM_005573.4(LMNB1):c.939+2362_1491+560del	LMNB1	Deletion (splice acceptor variant +1 more)	Microcephaly 26, primary, autosomal dominant +1 more	GPathogenic
Select item 915457	NM_005573.4(LMNB1):c.939+1G>A	LMNB1	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GPathogenic
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 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 915454	NM_005573.4(LMNB1):c.455C>G (p.Ala152Gly)	LMNB1 (A152G)	Single nucleotide variant (5 prime UTR variant +2 more)	Microcephaly 26, primary, autosomal dominant +1 more	GPathogenic