ClinVar for MedGen (Select 124408) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1070305	NM_138711.6(PPARG):c.362A>G (p.Tyr121Cys)	PPARG (Y121C +2 more)	Single nucleotide variant (missense variant +1 more)	Familial partial lipodystrophy +3 more	GPathogenic/Likely pathogenic
Select item 368833	NM_170707.4(LMNA):c.1698+124C>T	LMNA	Single nucleotide variant (intron variant)	Dilated Cardiomyopathy, Dominant +9 more	GUncertain significance
Select item 292838	NM_170707.4(LMNA):c.985C>A (p.Arg329Ser)	LMNA (R329S +2 more)	Single nucleotide variant (missense variant)	Mandibuloacral dysplasia +12 more	GUncertain significance
Select item 292837	NM_170707.4(LMNA):c.936+12C>T	LMNA	Single nucleotide variant (intron variant)	Mandibuloacral dysplasia +12 more	GConflicting classifications of pathogenicity
Select item 292833	NM_170707.4(LMNA):c.-5C>A	LMNA	Single nucleotide variant (5 prime UTR variant)	Familial partial lipodystrophy +9 more	GUncertain significance
Select item 292832	NM_170707.4(LMNA):c.-62C>A	LMNA	Single nucleotide variant (5 prime UTR variant)	Familial partial lipodystrophy +9 more	GUncertain significance
Select item 292830	NM_170707.4(LMNA):c.-109G>T	LMNA	Single nucleotide variant (5 prime UTR variant)	Familial partial lipodystrophy +9 more	GUncertain significance
Select item 292827	NM_170707.4(LMNA):c.-142C>A	LMNA	Single nucleotide variant (5 prime UTR variant)	Familial partial lipodystrophy +9 more	GUncertain significance
Select item 292826	NM_170707.4(LMNA):c.-183C>A	LMNA	Single nucleotide variant (5 prime UTR variant)	Familial partial lipodystrophy +9 more	GUncertain significance
Select item 292824	NM_005572.3(LMNA):c.-225C>A	LMNA	Single nucleotide variant (5 prime UTR variant +1 more)	Familial partial lipodystrophy +9 more	GUncertain significance
Select item 14517	NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu)	LMNA (S573L +2 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 14489	NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp)	LMNA (R482W +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +16 more	GPathogenic