ClinVar for MedGen (Select 1783457) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366973	NM_032737.4(LMNB2):c.578_579del (p.Val193fs)	LMNB2 (V193fs)	Deletion (frameshift variant)	Microcephaly 27, primary, autosomal dominant	GPathogenic
Select item 3066095	NM_032737.4(LMNB2):c.889_891del (p.Asp297del)	LMNB2 (D297del)	Deletion (inframe deletion)	Microcephaly 27, primary, autosomal dominant	GUncertain significance
Select item 2582532	NM_032737.4(LMNB2):c.859G>A (p.Asp287Asn)	LMNB2 (D287N)	Single nucleotide variant (missense variant)	Microcephaly 27, primary, autosomal dominant	GUncertain significance
Select item 2578547	NM_032737.4(LMNB2):c.1163T>G (p.Ile388Ser)	LMNB2 (I388S)	Single nucleotide variant (missense variant)	Microcephaly 27, primary, autosomal dominant +1 more	GUncertain significance
Select item 997435	NM_032737.4(LMNB2):c.160A>C (p.Asn54His)	LMNB2 (N54H)	Single nucleotide variant (missense variant)	Microcephaly 27, primary, autosomal dominant	GPathogenic
Select item 997434	NM_032737.4(LMNB2):c.1192G>A (p.Glu398Lys)	LMNB2 (E398K)	Single nucleotide variant (missense variant)	LMNB2-related disorder +1 more	GPathogenic
Select item 14474	NM_032737.4(LMNB2):c.704G>A (p.Arg235Gln)	LMNB2 (R235Q)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +4 more	GBenign/Likely benign

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