"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LOC1300 - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1416470	NM_020376.4(PNPLA2):c.10C>T (p.Arg4Cys)	LOC130005097, PNPLA2 (R4C)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 835788	NM_020376.4(PNPLA2):c.11G>A (p.Arg4His)	LOC130005097, PNPLA2 (R4H)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 3003450	NM_020376.4(PNPLA2):c.18G>A (p.Lys6=)	LOC130005097, PNPLA2	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy	GLikely benign
Select item 1610462	NM_020376.4(PNPLA2):c.21G>A (p.Thr7=)	LOC130005097, PNPLA2	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy	GLikely benign
Select item 465790	NM_020376.4(PNPLA2):c.30C>T (p.Ile10=)	LOC130005097, PNPLA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2073468	NM_020376.4(PNPLA2):c.33G>C (p.Ser11=)	LOC130005097, PNPLA2	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy	GLikely benign
Select item 881329	NM_020376.4(PNPLA2):c.36C>T (p.Phe12=)	LOC130005097, PNPLA2	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy	GConflicting classifications of pathogenicity
Select item 957495	NM_020376.4(PNPLA2):c.40G>A (p.Gly14Ser)	LOC130005097, PNPLA2 (G14S)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 727465	NM_020376.4(PNPLA2):c.42C>T (p.Gly14=)	LOC130005097, PNPLA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1942908	NM_020376.4(PNPLA2):c.43T>A (p.Cys15Ser)	LOC130005097, PNPLA2 (C15S)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 2879553	NM_020376.4(PNPLA2):c.45C>A (p.Cys15Ter)	LOC130005097, PNPLA2 (C15*)	Single nucleotide variant (nonsense)	Neutral lipid storage myopathy	GPathogenic
Select item 1062120	NM_020376.4(PNPLA2):c.52C>T (p.Leu18Phe)	LOC130005097, PNPLA2 (L18F)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 1498588	NM_020376.4(PNPLA2):c.55G>C (p.Gly19Arg)	LOC130005097, PNPLA2 (G19R)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 3001101	NM_020376.4(PNPLA2):c.60C>T (p.Val20=)	LOC130005097, PNPLA2	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy	GLikely benign
Select item 949144	NM_020376.4(PNPLA2):c.62A>G (p.Tyr21Cys)	LOC130005097, PNPLA2 (Y21C)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 2757371	NM_020376.4(PNPLA2):c.63C>G (p.Tyr21Ter)	LOC130005097, PNPLA2 (Y21*)	Single nucleotide variant (nonsense)	Neutral lipid storage myopathy	GPathogenic
Select item 656573	NM_020376.4(PNPLA2):c.72C>T (p.Gly24=)	LOC130005097, PNPLA2	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy	GLikely benign
Select item 1041370	NM_020376.4(PNPLA2):c.74T>C (p.Val25Ala)	LOC130005097, PNPLA2 (V25A)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy +1 more	GUncertain significance
Select item 3011418	NM_020376.4(PNPLA2):c.76G>A (p.Ala26Thr)	LOC130005097, PNPLA2 (A26T)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 1345351	NM_020376.4(PNPLA2):c.77C>T (p.Ala26Val)	LOC130005097, PNPLA2 (A26V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1055938	NM_020376.4(PNPLA2):c.80C>T (p.Ser27Phe)	LOC130005097, PNPLA2 (S27F)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 465799	NM_020376.4(PNPLA2):c.85C>T (p.Leu29Phe)	LOC130005097, PNPLA2 (L29F)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy +1 more	GUncertain significance
Select item 2153053	NM_020376.4(PNPLA2):c.88C>T (p.Arg30Cys)	LOC130005097, PNPLA2 (R30C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1128456	NM_020376.4(PNPLA2):c.90C>G (p.Arg30=)	LOC130005097, PNPLA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1130794	NM_020376.4(PNPLA2):c.96C>T (p.His32=)	LOC130005097, PNPLA2	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy	GLikely benign
Select item 1571389	NM_020376.4(PNPLA2):c.102C>T (p.Pro34=)	PNPLA2, LOC130005097	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy	GLikely benign
Select item 1580637	NM_020376.4(PNPLA2):c.117C>T (p.Asn39=)	LOC130005097, PNPLA2	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy	GLikely benign
Select item 566494	NM_020376.4(PNPLA2):c.122C>A (p.Thr41Lys)	LOC130005097, PNPLA2 (T41K)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 1974445	NM_020376.4(PNPLA2):c.123G>T (p.Thr41=)	LOC130005097, PNPLA2	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy	GLikely benign
Select item 2166678	NM_020376.4(PNPLA2):c.127A>G (p.Ile43Val)	LOC130005097, PNPLA2 (I43V)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy +1 more	GUncertain significance
Select item 465783	NM_020376.4(PNPLA2):c.128T>G (p.Ile43Ser)	LOC130005097, PNPLA2 (I43S)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 2174880	NM_020376.4(PNPLA2):c.131A>G (p.Tyr44Cys)	LOC130005097, PNPLA2 (Y44C)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 2197994	NM_020376.4(PNPLA2):c.138C>T (p.Ala46=)	LOC130005097, PNPLA2	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy	GLikely benign
Select item 1508984	NM_020376.4(PNPLA2):c.157G>A (p.Ala53Thr)	LOC130005097, PNPLA2 (A53T)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 710527	NM_020376.4(PNPLA2):c.165G>T (p.Ala55=)	LOC130005097, PNPLA2	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy	GConflicting classifications of pathogenicity
Select item 534202	NM_020376.4(PNPLA2):c.165G>C (p.Ala55=)	LOC130005097, PNPLA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2696850	NM_020376.4(PNPLA2):c.171C>T (p.Val57=)	LOC130005097, PNPLA2	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy	GLikely benign
Select item 759183	NM_020376.4(PNPLA2):c.177G>C (p.Gly59=)	LOC130005097, PNPLA2	Single nucleotide variant (synonymous variant)	Neutral lipid storage myopathy	GLikely benign
Select item 659464	NM_020376.4(PNPLA2):c.178G>A (p.Val60Ile)	PNPLA2, LOC130005097 (V60I)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 2985673	NM_020376.4(PNPLA2):c.182G>T (p.Cys61Phe)	LOC130005097, PNPLA2 (C61F)	Single nucleotide variant (missense variant)	Neutral lipid storage myopathy	GUncertain significance
Select item 520846	NM_020376.4(PNPLA2):c.187+1G>C	LOC130005097, PNPLA2	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 261239	NM_020376.4(PNPLA2):c.187+15G>A	PNPLA2, LOC130005097	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1619663	NM_020376.4(PNPLA2):c.187+18C>A	LOC130005097, PNPLA2	Single nucleotide variant (intron variant)	Neutral lipid storage myopathy	GLikely benign

ClinVar

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Items: 43