ClinVar for MedGen (Select 67438) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063854	NM_012232.6(CAVIN1):c.141_148del (p.Asp47fs)	CAVIN1 (D47fs)	Deletion (frameshift variant)	Congenital generalized lipodystrophy	GPathogenic
Select item 1334446	NM_006412.4(AGPAT2):c.313A>G (p.Met105Val)	AGPAT2 (M105V)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy	GPathogenic
Select item 365937	NM_006412.4(AGPAT2):c.-51GGAGCG[2]	AGPAT2	Microsatellite (5 prime UTR variant)	Congenital generalized lipodystrophy +1 more	GUncertain significance
Select item 365935	NM_006412.4(AGPAT2):c.-10GGGCC[3] (p.Met1fs)	AGPAT2 (M1fs)	Microsatellite (frameshift variant)	Congenital generalized lipodystrophy	GUncertain significance
Select item 365924	NM_006412.4(AGPAT2):c.493-3C>T	AGPAT2	Single nucleotide variant (intron variant)	Congenital generalized lipodystrophy +1 more	GUncertain significance
Select item 365909	NM_006412.4(AGPAT2):c.212_217dup	AGPAT2	Duplication (3 prime UTR variant)	Congenital generalized lipodystrophy +1 more	GBenign/Likely benign
Select item 259977	NM_006412.4(AGPAT2):c.40CTG[5] (p.Leu17dup)	AGPAT2	Microsatellite (inframe_insertion)	not provided +2 more	GBenign/Likely benign
Select item 199176	NM_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu)	BSCL2, HNRNPUL2-BSCL2 (P367L +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 6625	NM_006412.4(AGPAT2):c.589-2A>G	AGPAT2	Single nucleotide variant (splice acceptor variant)	Congenital generalized lipodystrophy +2 more	GPathogenic