"PreventionGenetics, part of Exact Sciences"[submitter] AND "COMP"[gen - ClinVar

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

Search results

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 255117	NM_000095.3(COMP):c.*1G>C	COMP	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 255124	NM_000095.3(COMP):c.2267A>G (p.Gln756Arg)	COMP (Q756R)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 255123	NM_000095.3(COMP):c.2228-40T>C	COMP	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 255121	NM_000095.3(COMP):c.1915-45C>T	COMP	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 255120	NM_000095.3(COMP):c.1755G>T (p.Thr585=)	COMP	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 255119	NM_000095.3(COMP):c.1755G>A (p.Thr585=)	COMP	Single nucleotide variant (synonymous variant)	Carpal tunnel syndrome 2 +4 more	GBenign
Select item 328615	NM_000095.3(COMP):c.1590C>A (p.Asp530Glu)	COMP (D530E)	Single nucleotide variant (missense variant)	COMP-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 3040220	NM_000095.3(COMP):c.1587C>T (p.Thr529=)	COMP	Single nucleotide variant (synonymous variant)	COMP-related disorder	GLikely benign
Select item 1224307	NM_000095.3(COMP):c.1563G>A (p.Pro521=)	COMP	Single nucleotide variant (synonymous variant)	COMP-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 597740	NM_000095.3(COMP):c.1488C>A (p.Asp496Glu)	COMP (D496E)	Single nucleotide variant (missense variant)	COMP-related disorder +2 more	GBenign/Likely benign
Select item 3031010	NM_000095.3(COMP):c.1411G>C (p.Asp471His)	COMP (D471H)	Single nucleotide variant (missense variant)	COMP-related disorder	GUncertain significance
Select item 2632794	NM_000095.3(COMP):c.1384G>T (p.Asp462Tyr)	COMP (D462Y)	Single nucleotide variant (missense variant)	COMP-related disorder	GUncertain significance
Select item 2631497	NM_000095.3(COMP):c.1317C>A (p.Asp439Glu)	COMP (D439E)	Single nucleotide variant (missense variant)	COMP-related disorder	GLikely pathogenic
Select item 737996	NM_000095.3(COMP):c.1255-5C>T	COMP	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 40987	NM_000095.3(COMP):c.1156A>G (p.Asn386Asp)	COMP (N386D)	Single nucleotide variant (missense variant)	Connective tissue disorder +4 more	GBenign
Select item 3039199	NM_000095.3(COMP):c.964C>T (p.Pro322Ser)	COMP (P322S)	Single nucleotide variant (missense variant)	COMP-related disorder	GUncertain significance
Select item 891982	NM_000095.3(COMP):c.924C>T (p.Ile308=)	COMP	Single nucleotide variant (synonymous variant)	COMP-related disorder +2 more	GBenign/Likely benign
Select item 255125	NM_000095.3(COMP):c.762+12C>A	COMP	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 2903589	NM_000095.3(COMP):c.686G>A (p.Cys229Tyr)	COMP (C229Y)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 197627	NM_000095.3(COMP):c.511G>A (p.Ala171Thr)	COMP (A171T)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 1 +5 more	GBenign
Select item 1369296	NM_000095.3(COMP):c.218-6C>A	COMP	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 328626	NM_000095.3(COMP):c.218-7C>G	COMP	Single nucleotide variant (intron variant)	COMP-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 255122	NM_000095.3(COMP):c.218-14C>T	COMP	Single nucleotide variant (intron variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +3 more	GBenign/Likely benign
Select item 255118	NM_000095.3(COMP):c.165+41G>C	COMP	Single nucleotide variant (intron variant)	not specified	GBenign

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: 24