"Genetic Services Laboratory, University of Chicago"[submitter] AND "L - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 735804	NM_032737.4(LMNB2):c.1743G>C (p.Ser581=)	LMNB2	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 435781	NM_032737.4(LMNB2):c.1699G>A (p.Ala567Thr)	LMNB2 (A567T)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +2 more	GUncertain significance
Select item 129488	NM_032737.4(LMNB2):c.1416T>C (p.Gly472=)	LMNB2	Single nucleotide variant (synonymous variant)	Lipodystrophy, partial, acquired, susceptibility to +2 more	GBenign
Select item 965151	NM_032737.4(LMNB2):c.1406C>T (p.Ser469Leu)	LMNB2 (S469L)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 641376	NM_032737.4(LMNB2):c.1049G>A (p.Arg350Gln)	LMNB2 (R350Q)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to +2 more	GUncertain significance
Select item 435779	NM_032737.4(LMNB2):c.804C>T (p.Asp268=)	LMNB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 9 +3 more	GBenign/Likely benign
Select item 14474	NM_032737.4(LMNB2):c.704G>A (p.Arg235Gln)	LMNB2 (R235Q)	Single nucleotide variant (missense variant)	Acquired partial lipodystrophy +4 more	GBenign/Likely benign
Select item 435780	NM_032737.4(LMNB2):c.402C>T (p.Ser134=)	LMNB2	Single nucleotide variant (synonymous variant)	LMNB2-related disorder +4 more	GBenign/Likely benign
Select item 129487	NM_032737.4(LMNB2):c.391G>T (p.Val131Phe)	LMNB2 (V131F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance