"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "KLC2"[g - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 644273	NC_000011.9:g.(?_65633902)_(66115026_?)dup	B4GAT1, BRMS1 +72 more	Duplication	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 1970480	NM_001318734.2(KLC2):c.10A>T (p.Met4Leu)	KLC2 (M4L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1596624	NM_001318734.2(KLC2):c.30G>A (p.Glu10=)	KLC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 781008	NM_001318734.2(KLC2):c.126G>A (p.Leu42=)	KLC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2022921	NM_001318734.2(KLC2):c.136G>C (p.Glu46Gln)	KLC2 (E46Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1491124	NM_001318734.2(KLC2):c.287G>A (p.Arg96Gln)	KLC2, KLC2-AS1 (R96Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 719746	NM_001318734.2(KLC2):c.291G>A (p.Ala97=)	KLC2, KLC2-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1669364	NM_001318734.2(KLC2):c.330T>G (p.Arg110=)	KLC2, KLC2-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2609318	NM_001318734.2(KLC2):c.369T>G (p.Ser123Arg)	KLC2, KLC2-AS1 (S123R)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GUncertain significance
Select item 2418452	NM_001318734.2(KLC2):c.378C>T (p.Ala126=)	KLC2, KLC2-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2176600	NM_001318734.2(KLC2):c.403C>G (p.Gln135Glu)	KLC2, KLC2-AS1 (Q135E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1492027	NM_001318734.2(KLC2):c.434A>G (p.Lys145Arg)	KLC2, KLC2-AS1 (K145R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 797838	NM_001318734.2(KLC2):c.460-6T>C	KLC2, KLC2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2974278	NM_001318734.2(KLC2):c.494A>G (p.Asp165Gly)	KLC2, KLC2-AS1 (D165G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2694428	NM_001318734.2(KLC2):c.497A>T (p.Asp166Val)	KLC2, KLC2-AS1 (D89V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2182894	NM_001318734.2(KLC2):c.507C>T (p.Pro169=)	KLC2, KLC2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895041	NM_001318734.2(KLC2):c.509A>G (p.Asn170Ser)	KLC2, KLC2-AS1 (N170S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2051166	NM_001318734.2(KLC2):c.511G>A (p.Glu171Lys)	KLC2-AS1, KLC2 (E171K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1914117	NM_001318734.2(KLC2):c.576C>T (p.Tyr192=)	KLC2, KLC2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2715914	NM_001318734.2(KLC2):c.596G>A (p.Arg199His)	KLC2, KLC2-AS1 (R199H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2916333	NM_001318734.2(KLC2):c.624C>T (p.Tyr208=)	KLC2, KLC2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1348705	NM_001318734.2(KLC2):c.646G>A (p.Val216Ile)	KLC2, KLC2-AS1 (V216I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1368785	NM_001318734.2(KLC2):c.692C>T (p.Thr231Met)	KLC2, KLC2-AS1 (T154M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 716586	NM_001318734.2(KLC2):c.693G>A (p.Thr231=)	KLC2, KLC2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1450651	NM_001318734.2(KLC2):c.698G>T (p.Gly233Val)	KLC2, KLC2-AS1 (G233V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1350603	NM_001318734.2(KLC2):c.722C>G (p.Thr241Ser)	KLC2, KLC2-AS1 (T241S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2955158	NM_001318734.2(KLC2):c.752+17G>T	KLC2, KLC2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962330	NM_001318734.2(KLC2):c.809G>A (p.Arg270Gln)	KLC2, KLC2-AS1 (R193Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1962029	NM_001318734.2(KLC2):c.820C>G (p.Leu274Val)	KLC2, KLC2-AS1 (L197V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1563047	NM_001318734.2(KLC2):c.853C>T (p.Leu285=)	KLC2, KLC2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2069293	NM_001318734.2(KLC2):c.870C>A (p.Val290=)	KLC2, KLC2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1573469	NM_001318734.2(KLC2):c.870C>T (p.Val290=)	KLC2, KLC2-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1923358	NM_001318734.2(KLC2):c.874T>C (p.Tyr292His)	KLC2, KLC2-AS1 (Y215H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 785357	NM_001318734.2(KLC2):c.921G>A (p.Arg307=)	KLC2, KLC2-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 799122	NM_001318734.2(KLC2):c.990G>A (p.Leu330=)	KLC2, KLC2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1571625	NM_001318734.2(KLC2):c.1020T>A (p.Ala340=)	KLC2, KLC2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1471590	NM_001318734.2(KLC2):c.1040A>G (p.Tyr347Cys)	KLC2-AS1, KLC2 (Y270C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2057039	NM_001318734.2(KLC2):c.1069C>T (p.Arg357Cys)	KLC2, KLC2-AS1 (R280C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1300079	NM_001318734.2(KLC2):c.1086C>T (p.Asp362=)	KLC2, KLC2-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1376268	NM_001318734.2(KLC2):c.1091A>G (p.Asn364Ser)	KLC2, KLC2-AS1 (N287S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1598687	NM_001318734.2(KLC2):c.1117-8G>A	KLC2, KLC2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2176956	NM_001318734.2(KLC2):c.1155G>A (p.Ala385=)	KLC2, KLC2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003970	NM_001318734.2(KLC2):c.1214A>G (p.Asn405Ser)	KLC2, KLC2-AS1 (N405S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3017943	NM_001318734.2(KLC2):c.1252C>T (p.Arg418Trp)	KLC2, KLC2-AS1 (R418W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1371659	NM_001318734.2(KLC2):c.1253G>A (p.Arg418Gln)	KLC2, KLC2-AS1 (R341Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2894208	NM_001318734.2(KLC2):c.1266+5C>G	KLC2, KLC2-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2967774	NM_001318734.2(KLC2):c.1266+13G>A	KLC2, KLC2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 744590	NM_001318734.2(KLC2):c.1277G>A (p.Arg426Gln)	KLC2, KLC2-AS1 (R426Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2072030	NM_001318734.2(KLC2):c.1285G>A (p.Ala429Thr)	KLC2, KLC2-AS1 (A352T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2835475	NM_001318734.2(KLC2):c.1286C>T (p.Ala429Val)	KLC2, KLC2-AS1 (A352V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 727321	NM_001318734.2(KLC2):c.1302C>T (p.Tyr434=)	KLC2, KLC2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 774626	NM_001318734.2(KLC2):c.1308C>T (p.Ser436=)	KLC2, KLC2-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1599161	NM_001318734.2(KLC2):c.1334+7GGGGC[3]	KLC2, KLC2-AS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1663818	NM_001318734.2(KLC2):c.1334+12G>A	KLC2, KLC2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1662090	NM_001318734.2(KLC2):c.1362C>T (p.Ser454=)	KLC2, KLC2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 797742	NM_001318734.2(KLC2):c.1404G>A (p.Ala468=)	KLC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1410986	NM_001318734.2(KLC2):c.1456G>A (p.Ala486Thr)	KLC2 (A409T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2035964	NM_001318734.2(KLC2):c.1511A>T (p.Asp504Val)	KLC2 (D504V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1669055	NM_001318734.2(KLC2):c.1513C>T (p.Arg505Cys)	KLC2 (R428C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1988206	NM_001318734.2(KLC2):c.1516C>G (p.Arg506Gly)	KLC2 (R429G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1484788	NM_001318734.2(KLC2):c.1516C>T (p.Arg506Cys)	KLC2 (R506C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1419509	NM_001318734.2(KLC2):c.1532T>C (p.Met511Thr)	KLC2 (M511T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 747999	NM_001318734.2(KLC2):c.1542T>C (p.Gly514=)	KLC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1598796	NM_001318734.2(KLC2):c.1549C>T (p.Pro517Ser)	KLC2 (P440S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2964623	NM_001318734.2(KLC2):c.1602+8C>T	KLC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961510	NM_001318734.2(KLC2):c.1602+14C>T	KLC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1638838	NM_001318734.2(KLC2):c.1662G>A (p.Arg554=)	KLC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1655112	NM_001318734.2(KLC2):c.1727+11C>T	KLC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2059856	NM_001318734.2(KLC2):c.1785+6G>T	KLC2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3022024	NM_001318734.2(KLC2):c.1785+7G>A	KLC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020870	NM_001318734.2(KLC2):c.1785+13G>A	KLC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1918566	NM_001318734.2(KLC2):c.1813C>G (p.Arg605Gly)	KLC2 (R528G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2726736	NM_001318734.2(KLC2):c.1835T>C (p.Met612Thr)	KLC2 (M535T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 1449359	NC_000011.9:g.(?_64522783)_(66283694_?)del	AP5B1, ARL2 +81 more	Deletion	Glycogen storage disease, type V +1 more	GPathogenic

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Items: 75