PNLIP[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 58782	GRCh38/hg38 10q25.1-26.11(chr10:107191100-118761489)x1	ABLIM1, ACSL5 +308 more	Copy number loss	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 more	Copy number gain	See cases	GPathogenic
Select item 148437	GRCh38/hg38 10q25.2-26.12(chr10:112701186-120970617)x3	LOC126861050, LOC126861051 +248 more	Copy number gain	See cases	GLikely pathogenic
Select item 57171	GRCh38/hg38 10q25.3(chr10:114584882-117015907)x1	ABLIM1, ATRNL1 +45 more	Copy number loss	See cases	GPathogenic
Select item 2785683	NM_000936.4(PNLIP):c.4C>T (p.Leu2=)	PNLIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2713024	NM_000936.4(PNLIP):c.8C>T (p.Pro3Leu)	PNLIP (P3L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2789515	NM_000936.4(PNLIP):c.12T>G (p.Leu4=)	PNLIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2176858	NM_000936.4(PNLIP):c.30G>A (p.Leu10=)	PNLIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1930785	NM_000936.4(PNLIP):c.38C>T (p.Ala13Val)	PNLIP (A13V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2126380	NM_000936.4(PNLIP):c.46+19G>A	PNLIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2695213	NM_000936.4(PNLIP):c.47-16T>G	PNLIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2090785	NM_000936.4(PNLIP):c.47-13T>C	PNLIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870447	NM_000936.4(PNLIP):c.47-8G>C	PNLIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2013063	NM_000936.4(PNLIP):c.59G>T (p.Cys20Phe)	PNLIP (C20F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2428272	NM_000936.4(PNLIP):c.63C>T (p.Tyr21=)	PNLIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2170755	NM_000936.4(PNLIP):c.64G>A (p.Glu22Lys)	PNLIP (E22K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3215913	NM_000936.4(PNLIP):c.70C>T (p.Leu24Phe)	PNLIP (L24F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768391	NM_000936.4(PNLIP):c.96A>C (p.Pro32=)	PNLIP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2029255	NM_000936.4(PNLIP):c.99G>A (p.Trp33Ter)	PNLIP (W33*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2722684	NM_000936.4(PNLIP):c.111G>A (p.Thr37=)	PNLIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2135157	NM_000936.4(PNLIP):c.115A>G (p.Arg39Gly)	PNLIP (R39G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2829267	NM_000936.4(PNLIP):c.116G>A (p.Arg39Lys)	PNLIP (R39K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2848920	NM_000936.4(PNLIP):c.124C>T (p.His42Tyr)	PNLIP (H42Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1999079	NM_000936.4(PNLIP):c.129A>G (p.Ile43Met)	PNLIP (I43M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2177001	NM_000936.4(PNLIP):c.131T>G (p.Leu44Trp)	PNLIP (L44W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2898184	NM_000936.4(PNLIP):c.148del (p.Asp50fs)	PNLIP (D50fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2723245	NM_000936.4(PNLIP):c.150T>C (p.Asp50=)	PNLIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2415091	NM_000936.4(PNLIP):c.160C>G (p.Arg54Gly)	PNLIP (R54G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2396493	NM_000936.4(PNLIP):c.161G>A (p.Arg54His)	PNLIP (R54H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2095244	NM_000936.4(PNLIP):c.161G>T (p.Arg54Leu)	PNLIP (R54L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2058609	NM_000936.4(PNLIP):c.172T>C (p.Tyr58His)	PNLIP (Y58H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2192409	NM_000936.4(PNLIP):c.175A>G (p.Thr59Ala)	PNLIP (T59A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1978676	NM_000936.4(PNLIP):c.180T>C (p.Asn60=)	PNLIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891097	NM_000936.4(PNLIP):c.187C>T (p.Pro63Ser)	PNLIP (P63S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2047003	NM_000936.4(PNLIP):c.189A>C (p.Pro63=)	PNLIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867826	NM_000936.4(PNLIP):c.210C>T (p.Ala70=)	PNLIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2064239	NM_000936.4(PNLIP):c.211G>A (p.Ala71Thr)	PNLIP (A71T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1977875	NM_000936.4(PNLIP):c.215A>G (p.Asp72Gly)	PNLIP (D72G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2121332	NM_000936.4(PNLIP):c.237C>T (p.Ser79=)	PNLIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016342	NM_000936.4(PNLIP):c.281T>C (p.Phe94Ser)	PNLIP (F94S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1977650	NM_000936.4(PNLIP):c.315T>C (p.Asn105=)	PNLIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2782189	NM_000936.4(PNLIP):c.324+6A>T	PNLIP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2873454	NM_000936.4(PNLIP):c.324+10G>A	PNLIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1978345	NM_000936.4(PNLIP):c.324+11G>A	PNLIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2786097	NM_000936.4(PNLIP):c.325-14G>T	PNLIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2062327	NM_000936.4(PNLIP):c.325-5A>G	PNLIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2018691	NM_000936.4(PNLIP):c.330G>A (p.Leu110=)	PNLIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2823907	NM_000936.4(PNLIP):c.346G>A (p.Val116Met)	PNLIP (V116M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2903276	NM_000936.4(PNLIP):c.360T>C (p.Cys120=)	PNLIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2092400	NM_000936.4(PNLIP):c.373G>A (p.Gly125Ser)	PNLIP (G125S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2860436	NM_000936.4(PNLIP):c.376_414dup (p.Ile138_Arg139insGlySerArgThrGlyTyrThrGlnAlaSerGlnAsnIle)	PNLIP	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2791865	NM_000936.4(PNLIP):c.380C>T (p.Ser127Phe)	PNLIP (S127F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2205280	NM_000936.4(PNLIP):c.383G>A (p.Arg128Gln)	PNLIP (R128Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2833869	NM_000936.4(PNLIP):c.399del (p.Ala134fs)	PNLIP (A134fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2129974	NM_000936.4(PNLIP):c.400G>A (p.Ala134Thr)	PNLIP (A134T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2788047	NM_000936.4(PNLIP):c.404C>T (p.Ser135Leu)	PNLIP (S135L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2782224	NM_000936.4(PNLIP):c.405G>T (p.Ser135=)	PNLIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2195476	NM_000936.4(PNLIP):c.405G>A (p.Ser135=)	PNLIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2026177	NM_000936.4(PNLIP):c.414C>T (p.Ile138=)	PNLIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2045850	NM_000936.4(PNLIP):c.420C>T (p.Ile140=)	PNLIP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2026996	NM_000936.4(PNLIP):c.420C>A (p.Ile140=)	PNLIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872990	NM_000936.4(PNLIP):c.421G>A (p.Val141Met)	PNLIP (V141M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2460321	NM_000936.4(PNLIP):c.421G>T (p.Val141Leu)	PNLIP (V141L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2045433	NM_000936.4(PNLIP):c.427G>T (p.Ala143Ser)	PNLIP (A143S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2535970	NM_000936.4(PNLIP):c.436G>T (p.Ala146Ser)	PNLIP (A146S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2130415	NM_000936.4(PNLIP):c.459+3A>G	PNLIP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2180974	NM_000936.4(PNLIP):c.459+10C>T	PNLIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1971717	NM_000936.4(PNLIP):c.459+12C>T	PNLIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871597	NM_000936.4(PNLIP):c.459+13G>A	PNLIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021244	NM_000936.4(PNLIP):c.460-6C>T	PNLIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2103046	NM_000936.4(PNLIP):c.460-5G>A	PNLIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2856811	NM_000936.4(PNLIP):c.460-3C>T	PNLIP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2772101	NM_000936.4(PNLIP):c.460-1G>A	PNLIP	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2181807	NM_000936.4(PNLIP):c.461C>T (p.Ser154Leu)	PNLIP (S154L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2422088	NM_000936.4(PNLIP):c.465G>A (p.Ala155=)	PNLIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2041451	NM_000936.4(PNLIP):c.468C>T (p.Phe156=)	PNLIP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2085586	NM_000936.4(PNLIP):c.469G>A (p.Gly157Ser)	PNLIP (G157S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2180321	NM_000936.4(PNLIP):c.470G>A (p.Gly157Asp)	PNLIP (G157D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2127055	NM_000936.4(PNLIP):c.475T>G (p.Ser159Ala)	PNLIP (S159A)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2054797	NM_000936.4(PNLIP):c.479C>A (p.Pro160His)	PNLIP (P160H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2096384	NM_000936.4(PNLIP):c.486_487inv (p.Val163Met)	PNLIP (V163M)	Inversion (missense variant)	not provided	GUncertain significance
Select item 1327426	NM_000936.4(PNLIP):c.486T>C (p.Asn162=)	PNLIP	Single nucleotide variant (synonymous variant)	Pancreatic triacylglycerol lipase deficiency +1 more	GBenign
Select item 769789	NM_000936.4(PNLIP):c.486= (p.Asn162=)	PNLIP	Variation (no sequence alteration)	not provided	GBenign
Select item 2315133	NM_000936.4(PNLIP):c.492T>G (p.His164Gln)	PNLIP (H164Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 432668	NM_000936.4(PNLIP):c.526G>A (p.Gly176Arg)	PNLIP (G176R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2797764	NM_000936.4(PNLIP):c.528G>A (p.Gly176=)	PNLIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2060662	NM_000936.4(PNLIP):c.545C>T (p.Thr182Ile)	PNLIP (T182I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2787967	NM_000936.4(PNLIP):c.548A>G (p.Asn183Ser)	PNLIP (N183S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2060036	NM_000936.4(PNLIP):c.557T>C (p.Ile186Thr)	PNLIP (I186T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2887298	NM_000936.4(PNLIP):c.562C>T (p.Arg188Cys)	PNLIP (R188C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2182706	NM_000936.4(PNLIP):c.563G>A (p.Arg188His)	PNLIP (R188H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2200560	NM_000936.4(PNLIP):c.571G>A (p.Gly191Arg)	PNLIP (G191R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2109236	NM_000936.4(PNLIP):c.571+1G>T	PNLIP	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1944908	NM_000936.4(PNLIP):c.571+5G>A	PNLIP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2045048	NM_000936.4(PNLIP):c.571+10A>G	PNLIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1973112	NM_000936.4(PNLIP):c.571+13A>G	PNLIP	Single nucleotide variant (intron variant)	not provided	GLikely benign

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