"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LOC1268 - ClinVar

Search results

Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1391632	NM_001164508.2(NEB):c.19635C>G (p.Tyr6545Ter)	LOC126806373, NEB (Y4844* +1 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2	GPathogenic
Select item 1386453	NM_001164508.2(NEB):c.19635C>A (p.Tyr6545Ter)	LOC126806373, NEB (Y4844* +1 more)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6 +1 more	GPathogenic/Likely pathogenic
Select item 1146968	NM_001164508.2(NEB):c.19632A>G (p.Val6544=)	LOC126806373, NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 1528638	NM_001164508.2(NEB):c.19629T>C (p.Ile6543=)	LOC126806373, NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 938436	NM_001164508.2(NEB):c.19628T>C (p.Ile6543Thr)	LOC126806373, NEB (I6543T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2731791	NM_001164508.2(NEB):c.19627-4C>G	LOC126806373, NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 2820561	NM_001164508.2(NEB):c.19627-7C>T	LOC126806373, NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 1080530	NM_001164508.2(NEB):c.19627-8C>T	LOC126806373, NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 2074177	NM_001164508.2(NEB):c.19627-9A>T	LOC126806373, NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 2911722	NM_001164508.2(NEB):c.19627-15A>G	LOC126806373, NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 1659054	NM_001164508.2(NEB):c.19627-19T>A	LOC126806373, NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 1659393	NM_001164508.2(NEB):c.19626+14_19626+15del	LOC126806373, NEB	Deletion (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 2119041	NM_001164508.2(NEB):c.19626+13C>T	LOC126806373, NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GUncertain significance
Select item 1143866	NM_001164508.2(NEB):c.19626+10T>C	LOC126806373, NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 1146239	NM_001164508.2(NEB):c.19626+9G>T	LOC126806373, NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 2900648	NM_001164508.2(NEB):c.19626+7C>T	LOC126806373, NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 691986	NM_001164508.2(NEB):c.19626+1G>A	LOC126806373, NEB	Single nucleotide variant (splice donor variant)	Nemaline myopathy +2 more	GLikely pathogenic
Select item 167329	NM_001164508.2(NEB):c.19626T>C (p.Asp6542=)	LOC126806373, NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2 +2 more	GConflicting classifications of pathogenicity
Select item 1400787	NM_001164508.2(NEB):c.19624_19625insGTA (p.Asp6542delinsGlyAsn)	LOC126806373, NEB	Insertion (inframe_indel)	Nemaline myopathy 2	GUncertain significance
Select item 1017897	NM_001164508.2(NEB):c.19625A>G (p.Asp6542Gly)	LOC126806373, NEB (D4841G +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GUncertain significance
Select item 1499616	NM_001164508.2(NEB):c.19624G>A (p.Asp6542Asn)	LOC126806373, NEB (D4841N +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GUncertain significance
Select item 1643875	NM_001164508.2(NEB):c.19623C>T (p.Ser6541=)	LOC126806373, NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 1460231	NM_001164508.2(NEB):c.19621del (p.Ser6541fs)	LOC126806373, NEB (S6541fs +1 more)	Deletion (frameshift variant)	Nemaline myopathy 2	GPathogenic
Select item 991526	NM_001164508.2(NEB):c.19621A>C (p.Ser6541Arg)	LOC126806373, NEB (S4840R +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GLikely benign
Select item 1667234	NM_001164508.2(NEB):c.19620C>T (p.Ile6540=)	LOC126806373, NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 659940	NM_001164508.2(NEB):c.19613A>T (p.Asp6538Val)	LOC126806373, NEB (D4837V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1597980	NM_001164508.2(NEB):c.19608C>T (p.Val6536=)	LOC126806373, NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 2891988	NM_001164508.2(NEB):c.19604A>G (p.Lys6535Arg)	LOC126806373, NEB (K4834R +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GLikely benign
Select item 1163215	NM_001164508.2(NEB):c.19603A>G (p.Lys6535Glu)	LOC126806373, NEB (K4834E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2702013	NM_001164508.2(NEB):c.19599C>G (p.Val6533=)	LOC126806373, NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 331446	NM_001164508.2(NEB):c.19597G>A (p.Val6533Ile)	LOC126806373, NEB (V6533I +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GConflicting classifications of pathogenicity
Select item 1096736	NM_001164508.2(NEB):c.19596C>T (p.His6532=)	LOC126806373, NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 2129010	NM_001164508.2(NEB):c.19583A>G (p.Gln6528Arg)	LOC126806373, NEB (Q4827R +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GUncertain significance
Select item 1524251	NM_001164508.2(NEB):c.19583A>C (p.Gln6528Pro)	LOC126806373, NEB (Q4827P +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GUncertain significance
Select item 1646788	NM_001164508.2(NEB):c.19581G>A (p.Leu6527=)	LOC126806373, NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 1132390	NM_001164508.2(NEB):c.19579T>C (p.Leu6527=)	LOC126806373, NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 1042828	NM_001164508.2(NEB):c.19576G>A (p.Asp6526Asn)	LOC126806373, NEB (D6526N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2012746	NM_001164508.2(NEB):c.19575del (p.Asp6526fs)	LOC126806373, NEB (D4825fs +1 more)	Deletion (frameshift variant)	Nemaline myopathy 2	GPathogenic
Select item 755675	NM_001164508.2(NEB):c.19575C>T (p.Pro6525=)	LOC126806373, NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 1125900	NM_001164508.2(NEB):c.19572C>T (p.His6524=)	LOC126806373, NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 760273	NM_001164508.2(NEB):c.19569C>T (p.Cys6523=)	NEB, LOC126806373	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 2764554	NM_001164508.2(NEB):c.19566T>C (p.Ile6522=)	NEB, LOC126806373	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 1042096	NM_001164508.2(NEB):c.19558G>A (p.Glu6520Lys)	LOC126806373, NEB (E4819K +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GUncertain significance
Select item 390796	NM_001164508.2(NEB):c.19557C>T (p.His6519=)	LOC126806373, NEB	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 697504	NM_001164508.2(NEB):c.19550G>A (p.Arg6517His)	LOC126806373, NEB (R6517H +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GConflicting classifications of pathogenicity
Select item 2745274	NM_001164508.2(NEB):c.19549C>T (p.Arg6517Cys)	LOC126806373, NEB (R4816C +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GLikely benign
Select item 1144644	NM_001164508.2(NEB):c.19548G>A (p.Leu6516=)	NEB, LOC126806373	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 1984413	NM_001164508.2(NEB):c.19546C>T (p.Leu6516=)	LOC126806373, NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 199250	NM_001164508.2(NEB):c.19544G>A (p.Arg6515His)	LOC126806373, NEB (R6515H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 450107	NM_001164508.2(NEB):c.19543C>T (p.Arg6515Cys)	LOC126806373, NEB (R6515C +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +1 more	GConflicting classifications of pathogenicity
Select item 2988213	NM_001164508.2(NEB):c.19542C>T (p.Tyr6514=)	LOC126806373, NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 893904	NM_001164508.2(NEB):c.19535T>C (p.Ile6512Thr)	NEB, LOC126806373 (I4811T +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GConflicting classifications of pathogenicity
Select item 1353219	NM_001164508.2(NEB):c.19534A>G (p.Ile6512Val)	LOC126806373, NEB (I4811V +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GUncertain significance
Select item 1077676	NM_001164508.2(NEB):c.19530T>C (p.Ser6510=)	LOC126806373, NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 2144265	NM_001164508.2(NEB):c.19529G>A (p.Ser6510Asn)	LOC126806373, NEB (S6510N +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GUncertain significance
Select item 2503969	NM_001164508.2(NEB):c.19519A>T (p.Lys6507Ter)	LOC126806373, NEB (K4806* +1 more)	Single nucleotide variant (nonsense)	Nemaline myopathy +1 more	GPathogenic/Likely pathogenic
Select item 2909606	NM_001164508.2(NEB):c.19511A>T (p.Asp6504Val)	LOC126806373, NEB (D4803V +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GLikely benign
Select item 763176	NM_001164508.2(NEB):c.19506C>T (p.Ala6502=)	LOC126806373, NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 1996405	NM_001164508.2(NEB):c.19499T>G (p.Val6500Gly)	LOC126806373, NEB (V4799G +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GUncertain significance
Select item 2194523	NM_001164508.2(NEB):c.19496T>C (p.Met6499Thr)	LOC126806373, NEB (M6499T +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GLikely benign
Select item 1413792	NM_001164508.2(NEB):c.19495A>G (p.Met6499Val)	LOC126806373, NEB (M4798V +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GUncertain significance
Select item 1612921	NM_001164508.2(NEB):c.19494G>A (p.Glu6498=)	LOC126806373, NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 3015781	NM_001164508.2(NEB):c.19491A>T (p.Val6497=)	LOC126806373, NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 656657	NM_001164508.2(NEB):c.19486A>G (p.Met6496Val)	LOC126806373, NEB (M4795V +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +1 more	GUncertain significance
Select item 2196086	NM_001164508.2(NEB):c.19482C>G (p.Pro6494=)	LOC126806373, NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 257781	NM_001164508.2(NEB):c.19482C>T (p.Pro6494=)	LOC126806373, NEB	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1089289	NM_001164508.2(NEB):c.19479G>A (p.Val6493=)	LOC126806373, NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 533977	NM_001164508.2(NEB):c.19477G>A (p.Val6493Met)	LOC126806373, NEB (V6493M +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GLikely benign
Select item 705301	NM_001164508.2(NEB):c.19476C>T (p.Ile6492=)	LOC126806373, NEB	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2841659	NM_001164508.2(NEB):c.19470C>T (p.Ile6490=)	LOC126806373, NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 1935025	NM_001164508.2(NEB):c.19470C>A (p.Ile6490=)	LOC126806373, NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 95110	NM_001164508.2(NEB):c.19455G>A (p.Lys6485=)	LOC126806373, NEB	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1557292	NM_001164508.2(NEB):c.19449T>C (p.Tyr6483=)	NEB, LOC126806373	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 2011888	NM_001164508.2(NEB):c.19443A>G (p.Ser6481=)	LOC126806373, NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 2153491	NM_001164508.2(NEB):c.19436A>G (p.Tyr6479Cys)	LOC126806373, NEB (Y4778C +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GLikely benign
Select item 1959079	NM_001164508.2(NEB):c.19434G>A (p.Leu6478=)	LOC126806373, NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 1617888	NM_001164508.2(NEB):c.19431C>G (p.Arg6477=)	NEB, LOC126806373	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 1587059	NM_001164508.2(NEB):c.19431C>A (p.Arg6477=)	LOC126806373, NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 1973518	NM_001164508.2(NEB):c.19429C>A (p.Arg6477Ser)	NEB, LOC126806373 (R4776S +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GUncertain significance
Select item 845121	NM_001164508.2(NEB):c.19429C>T (p.Arg6477Cys)	LOC126806373, NEB (R4776C +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GUncertain significance
Select item 1547983	NM_001164508.2(NEB):c.19429-5T>C	LOC126806373, NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 761269	NM_001164508.2(NEB):c.19429-7T>C	LOC126806373, NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 2738681	NM_001164508.2(NEB):c.19429-11dup	LOC126806373, NEB	Duplication (intron variant)	Nemaline myopathy 2	GBenign
Select item 2919892	NM_001164508.2(NEB):c.19429-18G>A	NEB, LOC126806373	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 2740847	NM_001164508.2(NEB):c.19429-20A>T	LOC126806373, NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 1612080	NM_001164508.2(NEB):c.19429-20A>G	LOC126806373, NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign

ClinVar

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Items: 86