Related gene-specific medical variations for Gene (Select 284119) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2439772	NM_012232.6(CAVIN1):c.917T>C (p.Val306Ala)	CAVIN1 (V306A)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 4	GUncertain significance
Select item 2439771	NM_012232.6(CAVIN1):c.847C>T (p.Pro283Ser)	CAVIN1 (P283S)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 4	GUncertain significance
Select item 2435299	NM_012232.6(CAVIN1):c.905C>T (p.Thr302Met)	CAVIN1 (T302M)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 4	GUncertain significance
Select item 2435298	NM_012232.6(CAVIN1):c.743C>G (p.Thr248Ser)	CAVIN1 (T248S)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 4	GUncertain significance
Select item 2435297	NM_012232.6(CAVIN1):c.256G>A (p.Val86Met)	CAVIN1 (V86M)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 4	GUncertain significance
Select item 2435296	NM_012232.6(CAVIN1):c.62C>T (p.Ala21Val)	CAVIN1 (A21V)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 4	GUncertain significance
Select item 2435295	NM_012232.6(CAVIN1):c.28G>C (p.Glu10Gln)	CAVIN1 (E10Q)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 4	GUncertain significance

ClinVar