C1853136[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 465799	NM_020376.4(PNPLA2):c.85C>T (p.Leu29Phe)	LOC130005097, PNPLA2 (L29F)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 2435107	NM_020376.4(PNPLA2):c.229C>T (p.Arg77Trp)	PNPLA2 (R77W)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 465788	NM_020376.4(PNPLA2):c.235C>T (p.Arg79Trp)	PNPLA2 (R79W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 465789	NM_020376.4(PNPLA2):c.236G>A (p.Arg79Gln)	PNPLA2 (R79Q)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GConflicting classifications of pathogenicity
Select item 2435106	NM_020376.4(PNPLA2):c.260C>T (p.Ser87Phe)	PNPLA2 (S87F)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 2435113	NM_020376.4(PNPLA2):c.279C>G (p.Ile93Met)	PNPLA2 (I93M)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 1439741	NM_020376.4(PNPLA2):c.320A>G (p.His107Arg)	PNPLA2 (H107R)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 306294	NM_020376.4(PNPLA2):c.326A>G (p.His109Arg)	PNPLA2 (H109R)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 465792	NM_020376.4(PNPLA2):c.338G>A (p.Arg113His)	PNPLA2 (R113H)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 1447808	NM_020376.4(PNPLA2):c.359G>A (p.Arg120His)	PNPLA2 (R120H)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 2072017	NM_020376.4(PNPLA2):c.370G>A (p.Gly124Ser)	PNPLA2 (G124S)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy +1 more	GUncertain significance
Select item 666156	NM_020376.4(PNPLA2):c.448G>A (p.Val150Met)	PNPLA2 (V150M)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy +1 more	GUncertain significance
Select item 2435110	NM_020376.4(PNPLA2):c.467C>T (p.Pro156Leu)	PNPLA2 (P156L)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 847358	NM_020376.4(PNPLA2):c.487C>T (p.Arg163Cys)	PNPLA2 (R163C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2048712	NM_020376.4(PNPLA2):c.493G>A (p.Val165Met)	PNPLA2 (V165M)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 2435109	NM_020376.4(PNPLA2):c.542C>T (p.Thr181Ile)	PNPLA2 (T181I)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 1464841	NM_020376.4(PNPLA2):c.568G>A (p.Glu190Lys)	PNPLA2 (E190K)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 574730	NM_020376.4(PNPLA2):c.655C>T (p.Leu219Phe)	PNPLA2 (L219F)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 663841	NM_020376.4(PNPLA2):c.662G>C (p.Arg221Pro)	PNPLA2 (R221P)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GPathogenic
Select item 2435117	NM_020376.4(PNPLA2):c.665T>C (p.Leu222Pro)	PNPLA2 (L222P)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 306298	NM_020376.4(PNPLA2):c.683C>T (p.Pro228Leu)	PNPLA2 (P228L)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy +1 more	GUncertain significance
Select item 465798	NM_020376.4(PNPLA2):c.752G>A (p.Arg251Gln)	PNPLA2 (R251Q)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 39867	NM_020376.4(PNPLA2):c.757+1G>T	PNPLA2	Single nucleotide variant (splice donor variant)	Neutral lipid storage myopathy	GPathogenic
Select item 2162952	NM_020376.4(PNPLA2):c.785T>G (p.Leu262Arg)	PNPLA2 (L262R)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 962772	NM_020376.4(PNPLA2):c.787G>T (p.Ala263Ser)	PNPLA2 (A263S)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 580047	NM_020376.4(PNPLA2):c.787G>A (p.Ala263Thr)	PNPLA2 (A263T)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy +1 more	GUncertain significance
Select item 944262	NM_020376.4(PNPLA2):c.798dup (p.Ala267fs)	PNPLA2 (A267fs)	Duplication (frameshift variant)	Neutral lipid storage myopathy	GPathogenic
Select item 858349	NM_020376.4(PNPLA2):c.803G>A (p.Arg268His)	PNPLA2 (R268H)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy +1 more	GUncertain significance
Select item 1494133	NM_020376.4(PNPLA2):c.815C>G (p.Pro272Arg)	PNPLA2 (P272R)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy +1 more	GUncertain significance
Select item 566589	NM_020376.4(PNPLA2):c.844G>A (p.Ala282Thr)	PNPLA2 (A282T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 465802	NM_020376.4(PNPLA2):c.907C>G (p.Arg303Gly)	PNPLA2 (R303G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1034956	NM_020376.4(PNPLA2):c.908G>A (p.Arg303Gln)	PNPLA2 (R303Q)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 261250	NM_020376.4(PNPLA2):c.943C>T (p.Pro315Ser)	PNPLA2 (P315S)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2435114	NM_020376.4(PNPLA2):c.975G>A (p.Met325Ile)	PNPLA2 (M325I)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 2435115	NM_020376.4(PNPLA2):c.982G>T (p.Val328Leu)	PNPLA2 (V328L)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 970617	NM_020376.4(PNPLA2):c.1010C>T (p.Pro337Leu)	PNPLA2 (P337L)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 2435108	NM_020376.4(PNPLA2):c.1142C>T (p.Ala381Val)	PNPLA2 (A381V)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 1448023	NM_020376.4(PNPLA2):c.1145A>G (p.Lys382Arg)	PNPLA2 (K382R)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 306306	NM_020376.4(PNPLA2):c.1181C>A (p.Pro394Gln)	PNPLA2 (P394Q)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy +1 more	GConflicting classifications of pathogenicity
Select item 853506	NM_020376.4(PNPLA2):c.1217C>T (p.Pro406Leu)	PNPLA2 (P406L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 936739	NM_020376.4(PNPLA2):c.1226C>G (p.Pro409Arg)	PNPLA2 (P409R)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 1391738	NM_020376.4(PNPLA2):c.1251G>C (p.Glu417Asp)	PNPLA2 (E417D)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 632176	NM_020376.4(PNPLA2):c.1266G>A (p.Trp422Ter)	PNPLA2 (W422*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 856333	NM_020376.4(PNPLA2):c.1328T>G (p.Leu443Arg)	PNPLA2 (L443R)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 945867	NM_020376.4(PNPLA2):c.1336G>A (p.Gly446Ser)	PNPLA2 (G446S)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 1928715	NM_020376.4(PNPLA2):c.1337G>A (p.Gly446Asp)	PNPLA2 (G446D)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 2069740	NM_020376.4(PNPLA2):c.1346G>C (p.Cys449Ser)	PNPLA2 (C449S)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 841550	NM_020376.4(PNPLA2):c.1353del (p.Asn451fs)	PNPLA2 (N451fs)	Deletion (frameshift variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 534196	NM_020376.4(PNPLA2):c.1406C>T (p.Pro469Leu)	PNPLA2 (P469L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 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 2689801	NM_020376.4(PNPLA2):c.1416_1475del (p.Asp473_Ala492del)	PNPLA2	Deletion (inframe_deletion)	Neutral lipid storage myopathy	GUncertain significance
Select item 465784	NM_020376.4(PNPLA2):c.1415C>G (p.Ala472Gly)	PNPLA2 (A472G)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 2435116	NM_020376.4(PNPLA2):c.1421C>G (p.Pro474Arg)	PNPLA2 (P474R)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy +1 more	GUncertain significance
Select item 2689799	NM_020376.4(PNPLA2):c.1435C>A (p.His479Asn)	PNPLA2 (H479N)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 2435104	NM_020376.4(PNPLA2):c.1447_1451del (p.Gly483fs)	PNPLA2 (G483fs)	Deletion (frameshift variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 2689800	NM_020376.4(PNPLA2):c.1450C>A (p.Pro484Thr)	PNPLA2 (P484T)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 2435111	NM_020376.4(PNPLA2):c.1454C>T (p.Ala485Val)	PNPLA2 (A485V)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 2179640	NM_020376.4(PNPLA2):c.1457C>G (p.Pro486Arg)	PNPLA2 (P486R)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 1518506	NM_020376.4(PNPLA2):c.1457C>A (p.Pro486His)	PNPLA2 (P486H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2435105	NM_020376.4(PNPLA2):c.1459T>G (p.Leu487Val)	PNPLA2 (L487V)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 1491594	NM_020376.4(PNPLA2):c.1478C>T (p.Pro493Leu)	PNPLA2 (P493L)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 1009741	NM_020376.4(PNPLA2):c.1484C>T (p.Ala495Val)	PNPLA2 (A495V)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance

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Items: 62