"GeneDx"[submitter] AND "PNPLA2"[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 59748	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3	ANO9, AP2A2 +266 more	Copy number gain	See cases	GPathogenic
Select item 1250739	NM_020376.4(PNPLA2):c.-145-110T>G	LOC130005097, PNPLA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667943	NM_020376.4(PNPLA2):c.-145-88T>C	LOC130005097, PNPLA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326729	NM_020376.4(PNPLA2):c.-145-48G>A	LOC130005097, PNPLA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 261239	NM_020376.4(PNPLA2):c.187+15G>A	LOC130005097, PNPLA2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 667944	NM_020376.4(PNPLA2):c.187+222T>G	PNPLA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 847358	NM_020376.4(PNPLA2):c.487C>T (p.Arg163Cys)	PNPLA2 (R163C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 698167	NM_020376.4(PNPLA2):c.492C>T (p.Tyr164=)	PNPLA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2136948	NM_020376.4(PNPLA2):c.497A>G (p.Asp166Gly)	PNPLA2 (D166G)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy +1 more	GConflicting classifications of pathogenicity
Select item 1363167	NM_020376.4(PNPLA2):c.662G>A (p.Arg221His)	PNPLA2 (R221H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 261243	NM_020376.4(PNPLA2):c.678C>T (p.Leu226=)	PNPLA2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 261244	NM_020376.4(PNPLA2):c.696+15G>A	PNPLA2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 261245	NM_020376.4(PNPLA2):c.696+16A>G	PNPLA2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1221587	NM_020376.4(PNPLA2):c.696+205TC[6]	PNPLA2	Microsatellite (intron variant)	not provided	GBenign
Select item 1260829	NM_020376.4(PNPLA2):c.696+216T>C	PNPLA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 261246	NM_020376.4(PNPLA2):c.756C>G (p.Asn252Lys)	PNPLA2 (N252K)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 580047	NM_020376.4(PNPLA2):c.787G>A (p.Ala263Thr)	PNPLA2 (A263T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 252728	NM_020376.4(PNPLA2):c.793C>T (p.Pro265Ser)	PNPLA2 (P265S)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy +2 more	GBenign
Select item 261248	NM_020376.4(PNPLA2):c.873C>G (p.Pro291=)	PNPLA2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 261249	NM_020376.4(PNPLA2):c.919+4C>T	PNPLA2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1328746	NM_020376.4(PNPLA2):c.919+42G>A	PNPLA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 306305	NM_020376.4(PNPLA2):c.964C>T (p.Leu322Phe)	PNPLA2 (L322F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3367374	NM_020376.4(PNPLA2):c.989T>C (p.Leu330Pro)	PNPLA2 (L330P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1194357	NM_020376.4(PNPLA2):c.1053-21C>T	PNPLA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 788237	NM_020376.4(PNPLA2):c.1090C>T (p.Arg364Trp)	PNPLA2 (R364W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 261230	NM_020376.4(PNPLA2):c.1149G>A (p.Arg383=)	PNPLA2	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy +2 more	GBenign/Likely benign
Select item 261231	NM_020376.4(PNPLA2):c.1167G>T (p.Leu389=)	PNPLA2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 672578	NM_020376.4(PNPLA2):c.1176-27C>G	PNPLA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 431910	NM_020376.4(PNPLA2):c.1277A>G (p.Asn426Ser)	PNPLA2 (N426S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 534196	NM_020376.4(PNPLA2):c.1406C>T (p.Pro469Leu)	PNPLA2 (P469L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 579621	NM_020376.4(PNPLA2):c.1408G>A (p.Ala470Thr)	PNPLA2 (A470T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 261234	NM_020376.4(PNPLA2):c.1430C>G (p.Pro477Arg)	PNPLA2 (P477R)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 261236	NM_020376.4(PNPLA2):c.1442T>C (p.Leu481Pro)	PNPLA2 (L481P)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 261238	NM_020376.4(PNPLA2):c.1458C>T (p.Pro486=)	PNPLA2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1328791	NM_020376.4(PNPLA2):c.1513T>A (p.Ter505Arg)	PNPLA2	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 306309	NM_020376.4(PNPLA2):c.*126TGCA[1]	PNPLA2	Microsatellite (3 prime UTR variant)	Neutral lipid storage myopathy +1 more	GBenign
Select item 306310	NM_020376.4(PNPLA2):c.*248A>G	PNPLA2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 253804	GRCh37/hg19 11p15.5(chr11:680365-827724)x3	TMEM80, CRACR2B +9 more	Copy number gain	See cases	GUncertain significance

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Items: 39