C3809192[trait identifier] AND "Labcorp Genetics (formerly Invitae), L - ClinVar

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

Search results

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 522761	NM_001203.3(BMPR1B):c.80C>G (p.Pro27Arg)	BMPR1B (P27R +1 more)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 3 +2 more	GUncertain significance
Select item 1559217	NM_001753.5(CAV1):c.12C>A (p.Gly4=)	CAV1	Single nucleotide variant (5 prime UTR variant +1 more)	Pulmonary hypertension, primary, 3	GLikely benign
Select item 800276	NM_001753.5(CAV1):c.28G>T (p.Glu10Ter)	CAV1 (E10*)	Single nucleotide variant (5 prime UTR variant +1 more)	Pulmonary hypertension, primary, 3 +2 more	GConflicting classifications of pathogenicity
Select item 212818	NM_001753.5(CAV1):c.30+19dup	CAV1	Duplication (5 prime UTR variant +1 more)	Pulmonary hypertension, primary, 3 +2 more	GBenign
Select item 2916651	NM_001753.5(CAV1):c.30+19del	CAV1	Deletion (5 prime UTR variant +1 more)	Pulmonary hypertension, primary, 3	GBenign
Select item 2909499	NM_001753.5(CAV1):c.30+13G>A	CAV1	Single nucleotide variant (5 prime UTR variant +1 more)	Pulmonary hypertension, primary, 3	GLikely benign
Select item 2897118	NM_001753.5(CAV1):c.30+13G>T	CAV1	Single nucleotide variant (5 prime UTR variant +1 more)	Pulmonary hypertension, primary, 3	GBenign
Select item 1960879	NM_001753.5(CAV1):c.30+13G>C	CAV1	Single nucleotide variant (5 prime UTR variant +1 more)	Pulmonary hypertension, primary, 3	GBenign
Select item 379541	NM_001753.5(CAV1):c.30+14G>T	CAV1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 2728888	NM_001753.5(CAV1):c.30+15G>C	CAV1	Single nucleotide variant (5 prime UTR variant +1 more)	Pulmonary hypertension, primary, 3	GLikely benign
Select item 2723156	NM_001753.5(CAV1):c.30+15G>T	CAV1	Single nucleotide variant (5 prime UTR variant +1 more)	Pulmonary hypertension, primary, 3	GLikely benign
Select item 995628	NM_001753.5(CAV1):c.30+16G>A	CAV1	Single nucleotide variant (5 prime UTR variant +1 more)	Pulmonary hypertension, primary, 3 +1 more	GBenign/Likely benign
Select item 2908756	NM_001753.5(CAV1):c.30+19G>A	CAV1	Single nucleotide variant (5 prime UTR variant +1 more)	Pulmonary hypertension, primary, 3	GLikely benign
Select item 1601262	NM_001753.5(CAV1):c.30+20C>T	CAV1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GBenign
Select item 2048364	NM_001753.5(CAV1):c.31-255del	CAV1, LOC129999168	Deletion (intron variant)	Pulmonary hypertension, primary, 3 +1 more	GLikely benign
Select item 2973399	NM_001753.5(CAV1):c.45C>T (p.Thr15=)	CAV1	Single nucleotide variant (5 prime UTR variant +1 more)	Pulmonary hypertension, primary, 3	GLikely benign
Select item 1605257	NM_001753.5(CAV1):c.45C>G (p.Thr15=)	CAV1	Single nucleotide variant (5 prime UTR variant +1 more)	Pulmonary hypertension, primary, 3 +3 more	GLikely benign
Select item 2872549	NM_001753.5(CAV1):c.57G>A (p.Arg19=)	CAV1	Single nucleotide variant (5 prime UTR variant +1 more)	Pulmonary hypertension, primary, 3	GLikely benign
Select item 1544732	NM_001753.5(CAV1):c.72C>A (p.Ile24=)	CAV1	Single nucleotide variant (5 prime UTR variant +1 more)	Pulmonary hypertension, primary, 3	GLikely benign
Select item 696786	NM_001753.5(CAV1):c.129C>T (p.Asp43=)	CAV1	Single nucleotide variant (synonymous variant)	Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome +4 more	GBenign/Likely benign
Select item 128610	NM_001753.5(CAV1):c.156C>T (p.Val52=)	LOC129999169, CAV1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 705413	NM_001753.5(CAV1):c.174C>T (p.His58=)	CAV1, LOC129999169	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 762146	NM_001753.5(CAV1):c.177C>G (p.Leu59=)	CAV1, LOC129999169	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 3	GLikely benign
Select item 1644286	NM_001753.5(CAV1):c.183T>C (p.Asp61=)	CAV1, LOC129999169	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1354829	NM_001753.5(CAV1):c.189G>A (p.Val63=)	CAV1, LOC129999169	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 3	GUncertain significance
Select item 474315	NM_001753.5(CAV1):c.192C>T (p.Val64=)	CAV1, LOC129999169	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 3 +1 more	GLikely benign
Select item 759286	NM_001753.5(CAV1):c.195+7C>T	LOC129999169, CAV1	Single nucleotide variant (intron variant)	Pulmonary hypertension, primary, 3	GLikely benign
Select item 2851526	NM_001753.5(CAV1):c.195+8A>G	CAV1, LOC129999169	Single nucleotide variant (intron variant)	Pulmonary hypertension, primary, 3	GLikely benign
Select item 1952545	NM_001753.5(CAV1):c.196-6T>C	CAV1	Single nucleotide variant (intron variant)	Pulmonary hypertension, primary, 3	GLikely benign
Select item 944210	NM_001753.5(CAV1):c.202T>G (p.Phe68Val)	CAV1 (F68V +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 3 +3 more	GUncertain significance
Select item 2198126	NM_001753.5(CAV1):c.211G>A (p.Val71Met)	CAV1 (V40M +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 3	GUncertain significance
Select item 2034176	NM_001753.5(CAV1):c.219A>G (p.Ala73=)	CAV1	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 3	GLikely benign
Select item 2914806	NM_001753.5(CAV1):c.229G>A (p.Gly77Arg)	CAV1 (G46R +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 3	GUncertain significance
Select item 439457	NM_001753.5(CAV1):c.246C>T (p.Asp82=)	CAV1	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 3 +4 more	GBenign/Likely benign
Select item 699189	NM_001753.5(CAV1):c.258G>A (p.Lys86=)	CAV1	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 3	GLikely benign
Select item 715166	NM_001753.5(CAV1):c.285G>A (p.Thr95=)	CAV1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1469176	NM_001753.5(CAV1):c.302G>A (p.Arg101His)	CAV1 (R70H +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 3 +2 more	GUncertain significance
Select item 2024231	NM_001753.5(CAV1):c.318C>T (p.Leu106=)	CAV1	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 3	GLikely benign
Select item 1730066	NM_001753.5(CAV1):c.330G>A (p.Pro110=)	CAV1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 699061	NM_001753.5(CAV1):c.348C>T (p.Gly116=)	CAV1	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 3 +1 more	GBenign/Likely benign
Select item 2895477	NM_001753.5(CAV1):c.352T>C (p.Tyr118His)	CAV1 (Y87H +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 3	GUncertain significance
Select item 701521	NM_001753.5(CAV1):c.357C>T (p.Phe119=)	CAV1	Single nucleotide variant (synonymous variant)	Congenital generalized lipodystrophy type 3 +3 more	GLikely benign
Select item 2894539	NM_001753.5(CAV1):c.358G>A (p.Ala120Thr)	CAV1 (A89T +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 3 +2 more	GConflicting classifications of pathogenicity
Select item 1143569	NM_001753.5(CAV1):c.426G>A (p.Gln142=)	CAV1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1569990	NM_001753.5(CAV1):c.437G>C (p.Arg146Pro)	CAV1 (R115P +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 3 +2 more	GLikely benign
Select item 1493101	NM_001753.5(CAV1):c.446_447insT (p.Ile150fs)	CAV1 (I150fs +1 more)	Insertion (frameshift variant)	Pulmonary hypertension, primary, 3	GLikely pathogenic
Select item 1620886	NM_001753.5(CAV1):c.447C>A (p.Ser149=)	CAV1	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 3	GLikely benign
Select item 566670	NM_001753.5(CAV1):c.448A>G (p.Ile150Val)	CAV1 (I150V +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 3 +1 more	GConflicting classifications of pathogenicity
Select item 695522	NM_001753.5(CAV1):c.463G>A (p.Val155Ile)	CAV1 (V155I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 541324	NM_001753.5(CAV1):c.500T>C (p.Phe167Ser)	CAV1 (F167S +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 696214	NM_001753.5(CAV1):c.507T>C (p.Asn169=)	CAV1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 650998	NM_001753.5(CAV1):c.512G>A (p.Arg171His)	CAV1 (R140H +1 more)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 3 +2 more	GUncertain significance
Select item 2461435	NM_001753.5(CAV1):c.525G>A (p.Gln175=)	CAV1	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 3 +1 more	GLikely benign
Select item 700514	NM_001753.5(CAV1):c.533T>A (p.Ile178Lys)	CAV1 (I178K +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 3	GLikely benign
Select item 3245815	NC_000007.13:g.(?_116165117)_(116199341_?)dup	CAV1	Duplication	Pulmonary hypertension, primary, 3	GUncertain significance
Select item 3245814	NC_000007.13:g.(?_116165117)_(116199341_?)del	CAV1	Deletion	Pulmonary hypertension, primary, 3	GUncertain significance

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: 56