"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LOC1251 - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2100479	NM_004859.4(CLTC):c.4435-6T>C	CLTC, LOC125177523	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2815772	NM_004859.4(CLTC):c.4455T>C (p.Asp1485=)	CLTC, LOC125177523	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2801889	NM_004859.4(CLTC):c.4455T>G (p.Asp1485Glu)	CLTC, LOC125177523 (D1485E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1493119	NM_004859.4(CLTC):c.4457C>T (p.Ala1486Val)	CLTC, LOC125177523 (A1486V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1529189	NM_004859.4(CLTC):c.4470T>C (p.Phe1490=)	CLTC, LOC125177523	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2054761	NM_004859.4(CLTC):c.4481C>T (p.Ser1494Leu)	CLTC, LOC125177523 (S1494L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2025575	NM_004859.4(CLTC):c.4482G>A (p.Ser1494=)	CLTC, LOC125177523	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1374537	NM_004859.4(CLTC):c.4487C>G (p.Ala1496Gly)	CLTC, LOC125177523 (A1496G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2978403	NM_004859.4(CLTC):c.4492C>T (p.Arg1498Cys)	CLTC, LOC125177523 (R1498C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1299868	NM_004859.4(CLTC):c.4493G>A (p.Arg1498His)	CLTC, LOC125177523 (R1498H +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2869141	NM_004859.4(CLTC):c.4495T>C (p.Leu1499=)	CLTC, LOC125177523	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2696461	NM_004859.4(CLTC):c.4506T>C (p.His1502=)	CLTC, LOC125177523	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1503233	NM_004859.4(CLTC):c.4513A>G (p.Ile1505Val)	CLTC, LOC125177523 (I1505V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1976262	NM_004859.4(CLTC):c.4514T>C (p.Ile1505Thr)	CLTC, LOC125177523 (I1509T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2102428	NM_004859.4(CLTC):c.4517A>C (p.Glu1506Ala)	CLTC, LOC125177523 (E1506A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1999691	NM_004859.4(CLTC):c.4518G>A (p.Glu1506=)	CLTC, LOC125177523	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1714785	NM_004859.4(CLTC):c.4521C>G (p.Phe1507Leu)	CLTC, LOC125177523 (F1507L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2718796	NM_004859.4(CLTC):c.4531GCT[1] (p.Ala1512del)	CLTC, LOC125177523 (A1516del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2096539	NM_004859.4(CLTC):c.4533T>C (p.Ala1511=)	CLTC, LOC125177523	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2005867	NM_004859.4(CLTC):c.4560C>T (p.Arg1520=)	CLTC, LOC125177523	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873927	NM_004859.4(CLTC):c.4572T>C (p.Ser1524=)	CLTC, LOC125177523	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1465544	NM_004859.4(CLTC):c.4573G>T (p.Val1525Leu)	CLTC, LOC125177523 (V1525L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1644894	NM_004859.4(CLTC):c.4581G>A (p.Leu1527=)	CLTC, LOC125177523	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2127497	NM_004859.4(CLTC):c.4593C>T (p.Asp1531=)	CLTC, LOC125177523	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1804927	NM_004859.4(CLTC):c.4605+3T>A	CLTC, LOC125177523	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 56 +1 more	GUncertain significance
Select item 2108346	NM_004859.4(CLTC):c.4605+4G>A	CLTC, LOC125177523	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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Items: 26