"Inherited Neuropathy Consortium"[submitter] AND "LMNA"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 66965	NM_170707.4(LMNA):c.99G>T (p.Glu33Asp)	LMNA, LOC129931597 (E33D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 66948	NM_170707.4(LMNA):c.864_867del (p.His289fs)	LMNA (H208fs +2 more)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 200939	NM_170707.4(LMNA):c.1057C>T (p.Gln353Ter)	LMNA (Q353* +2 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +2 more	GPathogenic
Select item 66844	NM_170707.4(LMNA):c.1535T>C (p.Leu512Pro)	LMNA (L512P +2 more)	Single nucleotide variant (missense variant)	Hereditary liability to pressure palsies	GUncertain significance
Select item 66611	NM_005572.4(LMNA):c.1711C>T (p.Arg571Cys)	LMNA (R571C +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2 +14 more	GUncertain significance
Select item 161293	NM_170707.4(LMNA):c.1870C>T (p.Arg624Cys)	LMNA (R512C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 637938	NM_170707.4(LMNA):c.1928C>A (p.Thr643Asn)	LMNA (T613N +2 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease	GUncertain significance

ClinVar