C3669395[trait identifier] AND "Labcorp Genetics (formerly Invitae), L - ClinVar

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

Search results

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 657917	NC_000023.11:g.(?_2934812)_(2960420_?)del	ARSL	Deletion	X-linked chondrodysplasia punctata 1	GPathogenic
Select item 11529	NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter)	ARSL (W581* +3 more)	Single nucleotide variant (nonsense)	X-linked chondrodysplasia punctata 1 +4 more	GPathogenic/Likely pathogenic
Select item 547861	NM_000047.3(ARSL):c.1694T>G (p.Ile565Ser)	ARSL (I565S +3 more)	Single nucleotide variant (missense variant)	Chondrodysplasia punctata, brachytelephalangic, autosomal +1 more	GConflicting classifications of pathogenicity
Select item 157730	NM_000047.3(ARSL):c.1692C>T (p.Asn564=)	ARSL	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 703344	NM_000047.3(ARSL):c.1408G>C (p.Asp470His)	ARSL (D470H +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 157728	NM_000047.3(ARSL):c.1270G>A (p.Gly424Ser)	ARSL (G424S +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 643307	NM_000047.3(ARSL):c.1239C>A (p.Asp413Glu)	ARSL (D413E +3 more)	Single nucleotide variant (missense variant)	X-linked chondrodysplasia punctata 1 +1 more	GUncertain significance
Select item 522724	NM_000047.3(ARSL):c.1189G>A (p.Gly397Arg)	ARSL (G397R +3 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 1683192	NM_000047.3(ARSL):c.949G>A (p.Gly317Arg)	ARSL (G263R +3 more)	Single nucleotide variant (missense variant)	Chondrodysplasia punctata, brachytelephalangic, autosomal +1 more	GConflicting classifications of pathogenicity
Select item 811901	NM_000047.3(ARSL):c.897C>T (p.His299=)	ARSL	Single nucleotide variant (synonymous variant)	X-linked chondrodysplasia punctata 1 +1 more	GBenign
Select item 235491	NM_000047.3(ARSL):c.775C>G (p.His259Asp)	ARSL (H259D +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 157735	NM_000047.3(ARSL):c.549C>T (p.Arg183=)	ARSL	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 157734	NM_000047.3(ARSL):c.548G>A (p.Arg183His)	ARSL (R183H +3 more)	Single nucleotide variant (missense variant)	X-linked chondrodysplasia punctata 1 +4 more	GBenign/Likely benign
Select item 838161	NM_000047.3(ARSL):c.512A>G (p.Tyr171Cys)	ARSL (Y117C +3 more)	Single nucleotide variant (missense variant)	X-linked chondrodysplasia punctata 1 +3 more	GUncertain significance
Select item 516293	NM_000047.3(ARSL):c.495T>C (p.His165=)	ARSL	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 518419	NM_000047.3(ARSL):c.467G>A (p.Ser156Asn)	ARSL (S156N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 513003	NM_000047.3(ARSL):c.430+8C>T	ARSL	Single nucleotide variant (intron variant)	Chondrodysplasia punctata, brachytelephalangic, autosomal +4 more	GBenign
Select item 21033	NM_000047.3(ARSL):c.410G>C (p.Gly137Ala)	ARSL (G137A +3 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 1066074	NM_000047.3(ARSL):c.217G>A (p.Gly73Ser)	ARSL (G19S +3 more)	Single nucleotide variant (missense variant)	Chondrodysplasia punctata, brachytelephalangic, autosomal +1 more	GLikely pathogenic
Select item 157729	NM_000047.3(ARSL):c.157A>G (p.Ile53Val)	ARSL (I53V +2 more)	Single nucleotide variant (missense variant +1 more)	Chondrodysplasia punctata, brachytelephalangic, autosomal +4 more	GBenign
Select item 157737	NM_000047.3(ARSL):c.78A>G (p.Ala26=)	ARSL	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign
Select item 11522	NM_000047.3(ARSL):c.36G>C (p.Arg12Ser)	ARSL (R12S +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked chondrodysplasia punctata 1 +1 more	GUncertain significance
Select item 1683210	NM_000047.3(ARSL):c.24-1G>A	ARSL	Single nucleotide variant (splice acceptor variant +1 more)	Chondrodysplasia punctata, brachytelephalangic, autosomal +2 more	GConflicting classifications of pathogenicity
Select item 383365	NM_000047.3(ARSL):c.23G>C (p.Cys8Ser)	ARSL (C8S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1073287	NC_000023.10:g.(?_2838632)_(2878441_?)del	ARSD, ARSL	Deletion	X-linked chondrodysplasia punctata 1	GPathogenic
Select item 832204	NC_000023.11:g.(?_2934812)_(2958455_?)del	ARSL	Deletion	Chondrodysplasia punctata, brachytelephalangic, autosomal +1 more	GPathogenic

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: 26