PLIN3[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 148645	GRCh38/hg38 19p13.3(chr19:3080621-4912622)x3	ANKRD24, APBA3 +223 more	Copy number gain	See cases	GLikely pathogenic
Select item 155547	GRCh38/hg38 19p13.3(chr19:3788727-5147354)x1	ANKRD24, ARRDC5 +150 more	Copy number loss	See cases	GLikely pathogenic
Select item 144751	GRCh38/hg38 19p13.3(chr19:3947934-5196676)x3	ANKRD24, ARRDC5 +145 more	Copy number gain	See cases	GUncertain significance
Select item 2592619	NM_005817.5(PLIN3):c.1289C>T (p.Pro430Leu)	PLIN3 (P418L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215247	NM_005817.5(PLIN3):c.1204G>A (p.Asp402Asn)	PLIN3 (D402N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215246	NM_005817.5(PLIN3):c.1193G>T (p.Arg398Leu)	PLIN3 (R386L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596342	NM_005817.5(PLIN3):c.1192C>T (p.Arg398Cys)	PLIN3 (R386C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553439	NM_005817.5(PLIN3):c.1190C>T (p.Ala397Val)	PLIN3 (A397V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461719	NM_005817.5(PLIN3):c.1177C>T (p.Arg393Cys)	PLIN3 (R381C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570219	NM_005817.5(PLIN3):c.1172G>A (p.Arg391His)	PLIN3 (R379H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273585	NM_005817.5(PLIN3):c.1171C>G (p.Arg391Gly)	PLIN3 (R390G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483098	NM_005817.5(PLIN3):c.1093C>G (p.Gln365Glu)	PLIN3 (Q353E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215244	NM_005817.5(PLIN3):c.1087C>G (p.Arg363Gly)	PLIN3 (R351G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466733	NM_005817.5(PLIN3):c.1054C>T (p.Pro352Ser)	PLIN3 (P352S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307748	NM_005817.5(PLIN3):c.1039A>G (p.Ser347Gly)	PLIN3 (S346G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234478	NM_005817.5(PLIN3):c.1010T>G (p.Leu337Arg)	PLIN3 (L325R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218183	NM_005817.5(PLIN3):c.992G>A (p.Arg331Gln)	PLIN3 (R319Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328901	NM_005817.5(PLIN3):c.961C>G (p.Gln321Glu)	PLIN3 (Q321E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3307743	NM_005817.5(PLIN3):c.856G>A (p.Val286Ile)	PLIN3 (V286I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546217	NM_005817.5(PLIN3):c.829A>G (p.Ser277Gly)	PLIN3 (S265G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215252	NM_005817.5(PLIN3):c.791G>C (p.Arg264Thr)	PLIN3 (R252T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590219	NM_005817.5(PLIN3):c.728C>T (p.Ser243Leu)	PLIN3 (S231L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215251	NM_005817.5(PLIN3):c.712C>T (p.Arg238Cys)	PLIN3 (R238C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254196	NM_005817.5(PLIN3):c.688C>T (p.Arg230Trp)	PLIN3 (R218W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248840	NM_005817.5(PLIN3):c.650C>G (p.Ser217Cys)	PLIN3 (S217C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457424	NM_005817.5(PLIN3):c.643G>A (p.Ala215Thr)	PLIN3 (A203T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494359	NM_005817.5(PLIN3):c.635C>T (p.Ala212Val)	PLIN3 (A212V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541595	NM_005817.5(PLIN3):c.589G>A (p.Glu197Lys)	PLIN3 (E197K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723711	NM_005817.5(PLIN3):c.588G>A (p.Ser196=)	PLIN3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3307746	NM_005817.5(PLIN3):c.552G>C (p.Met184Ile)	PLIN3 (M184I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312259	NM_005817.5(PLIN3):c.539G>A (p.Arg180His)	PLIN3 (R168H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215250	NM_005817.5(PLIN3):c.502G>A (p.Val168Ile)	PLIN3 (V168I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307745	NM_005817.5(PLIN3):c.466G>A (p.Gly156Ser)	PLIN3 (G144S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259794	NM_005817.5(PLIN3):c.463C>T (p.Arg155Cys)	PLIN3 (R143C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307744	NM_005817.5(PLIN3):c.389C>T (p.Ser130Leu)	PLIN3 (S130L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215249	NM_005817.5(PLIN3):c.382A>G (p.Lys128Glu)	PLIN3 (K128E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292667	NM_005817.5(PLIN3):c.341C>T (p.Thr114Met)	PLIN3 (T114M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270875	NM_005817.5(PLIN3):c.323C>T (p.Pro108Leu)	PLIN3 (P108L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 738945	NM_005817.5(PLIN3):c.306G>A (p.Lys102=)	PLIN3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2517404	NM_005817.5(PLIN3):c.286G>A (p.Ala96Thr)	PLIN3 (A96T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215248	NM_005817.5(PLIN3):c.239C>T (p.Pro80Leu)	PLIN3 (P80L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552467	NM_005817.5(PLIN3):c.217G>A (p.Ala73Thr)	PLIN3 (A73T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274623	NM_005817.5(PLIN3):c.197G>A (p.Gly66Glu)	PLIN3 (G66E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307747	NM_005817.5(PLIN3):c.118G>A (p.Asp40Asn)	PLIN3 (D40N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2355999	NM_005817.5(PLIN3):c.115T>C (p.Cys39Arg)	PLIN3 (C39R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215253	NM_005817.5(PLIN3):c.94A>G (p.Met32Val)	PLIN3 (M32V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307749	NM_005817.5(PLIN3):c.25G>A (p.Asp9Asn)	PLIN3 (D9N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062389	GRCh37/hg19 19p13.3(chr19:3788725-4881494)x1	EBI3, EEF2 +30 more	Copy number loss	not specified	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	TLE5, TLE6 +151 more	Duplication	not provided	GUncertain significance
Select item 1808228	GRCh37/hg19 19p13.3(chr19:4740085-4857609)x1	FEM1A, PLIN3 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1340547	GRCh37/hg19 19p13.3(chr19:3501624-5357124)x1	ANKRD24, APBA3 +46 more	Copy number loss	not provided	GPathogenic
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic

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Items: 57