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

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 51

	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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 51