"GeneDx"[submitter] AND "PLIN1"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	ABHD2, ACAN +611 more	Copy number gain	See cases	GPathogenic
Select item 129972	NM_002666.5(PLIN1):c.1248C>T (p.Phe416=)	PLIN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 129971	NM_002666.5(PLIN1):c.1119C>T (p.Val373=)	PLIN1	Single nucleotide variant (synonymous variant)	PLIN1-related familial partial lipodystrophy +1 more	GBenign
Select item 129970	NM_002666.5(PLIN1):c.1113T>C (p.Pro371=)	PLIN1	Single nucleotide variant (synonymous variant)	PLIN1-related familial partial lipodystrophy +1 more	GBenign
Select item 1289294	NM_002666.5(PLIN1):c.964-25G>T	PLIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224585	NM_002666.5(PLIN1):c.964-72C>A	PLIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2574379	NM_002666.5(PLIN1):c.898G>C (p.Asp300His)	PLIN1 (D300H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1250333	NM_002666.5(PLIN1):c.772-23T>A	PLIN1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1273835	NM_002666.5(PLIN1):c.772-104C>T	PLIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179845	NM_002666.5(PLIN1):c.772-147A>C	PLIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287422	NM_002666.5(PLIN1):c.772-151del	PLIN1	Deletion (intron variant)	not provided	GBenign
Select item 1287480	NM_002666.5(PLIN1):c.771+119G>C	PLIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236889	NM_002666.5(PLIN1):c.598+77A>T	PLIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 129973	NM_002666.5(PLIN1):c.580C>G (p.Pro194Ala)	PLIN1 (P194A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1247675	NM_002666.5(PLIN1):c.333+50C>T	PLIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281695	NM_002666.5(PLIN1):c.251-153G>T	PLIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273511	NM_002666.5(PLIN1):c.46-145A>C	PLIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229996	NM_002666.5(PLIN1):c.45+294C>A	PLIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222167	NM_002666.5(PLIN1):c.45+274A>G	PLIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289157	NM_002666.5(PLIN1):c.-14-139C>T	PLIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178857	NM_002666.5(PLIN1):c.-14-274A>C	PLIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 58582	GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3	ADAMTS17, ALDH1A3 +422 more	Copy number gain	See cases	GPathogenic
Select item 253910	GRCh37/hg19 15q26.1(chr15:90220524-90265367)x1	PEX11A, PLIN1 +1 more	Copy number loss	See cases	GUncertain significance
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic

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Items: 24