Related gene-specific medical variations for Gene (Select 5346) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3355772	NM_002666.5(PLIN1):c.1395C>T (p.Pro465=)	LOC130057886, PLIN1	Single nucleotide variant (synonymous variant)	PLIN1-related disorder	GLikely benign
Select item 3307738	NM_002666.5(PLIN1):c.1310G>T (p.Gly437Val)	LOC130057886, PLIN1 (G437V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215227	NM_002666.5(PLIN1):c.1375G>A (p.Ala459Thr)	LOC130057886, PLIN1 (A459T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215226	NM_002666.5(PLIN1):c.1306T>C (p.Ser436Pro)	LOC130057886, PLIN1 (S436P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065014	NM_002666.5(PLIN1):c.277C>T (p.Arg93Ter)	PLIN1 (R93*)	Single nucleotide variant (nonsense)	PLIN1-related familial partial lipodystrophy	GLikely pathogenic
Select item 3044124	NM_002666.5(PLIN1):c.1395C>A (p.Pro465=)	LOC130057886, PLIN1	Single nucleotide variant (synonymous variant)	PLIN1-related disorder	GLikely benign
Select item 3034253	NM_002666.5(PLIN1):c.67C>T (p.Arg23Trp)	LOC125146351, PLIN1 (R23W)	Single nucleotide variant (missense variant)	PLIN1-related disorder	GLikely benign
Select item 3033886	NM_002666.5(PLIN1):c.1386C>G (p.Pro462=)	LOC130057886, PLIN1	Single nucleotide variant (synonymous variant)	PLIN1-related disorder	GLikely benign
Select item 2435085	NM_002666.5(PLIN1):c.1280A>G (p.Glu427Gly)	PLIN1 (E427G)	Single nucleotide variant (missense variant)	PLIN1-related familial partial lipodystrophy	GUncertain significance
Select item 2386608	NM_002666.5(PLIN1):c.1385C>T (p.Pro462Leu)	LOC130057886, PLIN1 (P462L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329193	NM_002666.5(PLIN1):c.1324G>A (p.Gly442Ser)	LOC130057886, PLIN1 (G442S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2210464	NM_002666.5(PLIN1):c.139G>T (p.Ala47Ser)	LOC125146351, PLIN1 (A47S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1342123	NM_002666.5(PLIN1):c.1308_1309del (p.Pro439fs)	LOC130057886, PLIN1 (P439fs)	Deletion (frameshift variant)	PLIN1-related familial partial lipodystrophy	GPathogenic
Select item 976014	NM_002666.5(PLIN1):c.224C>T (p.Pro75Leu)	LOC125146351, PLIN1 (P75L)	Single nucleotide variant (missense variant)	PLIN1-related familial partial lipodystrophy +1 more	GUncertain significance
Select item 710652	NM_002666.5(PLIN1):c.1392G>T (p.Ala464=)	PLIN1, LOC130057886	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 436334	NM_002666.5(PLIN1):c.1386C>T (p.Pro462=)	LOC130057886, PLIN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 393441	NM_002666.5(PLIN1):c.107G>T (p.Cys36Phe)	LOC125146351, PLIN1 (C36F)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 393440	NM_002666.5(PLIN1):c.245C>T (p.Thr82Ile)	PLIN1, LOC125146351 (T82I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign