"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LOC1268 - ClinVar

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

Search results

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2866166	NM_000338.3(SLC12A1):c.1787-20T>C	LOC126862123, SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972539	NM_000338.3(SLC12A1):c.1787-13A>G	LOC126862123, SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2174651	NM_000338.3(SLC12A1):c.1800G>A (p.Ala600=)	LOC126862123, SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 378051	NM_000338.3(SLC12A1):c.1833del (p.Phe611fs)	LOC126862123, SLC12A1 (F611fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 2725326	NM_000338.3(SLC12A1):c.1845G>A (p.Leu615=)	LOC126862123, SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 316260	NM_000338.3(SLC12A1):c.1855G>A (p.Val619Ile)	LOC126862123, SLC12A1 (V619I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2785632	NM_000338.3(SLC12A1):c.1874G>A (p.Trp625Ter)	LOC126862123, SLC12A1 (W625*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 8754	NM_000338.3(SLC12A1):c.1875G>A (p.Trp625Ter)	LOC126862123, SLC12A1 (W625*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2759539	NM_000338.3(SLC12A1):c.1879del (p.Ala627fs)	LOC126862123, SLC12A1 (A627fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2759185	NM_000338.3(SLC12A1):c.1880_1890del (p.Ala627fs)	LOC126862123, SLC12A1 (A627fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 378048	NM_000338.3(SLC12A1):c.1883C>A (p.Ala628Asp)	LOC126862123, SLC12A1 (A628D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2890008	NM_000338.3(SLC12A1):c.1896T>C (p.Tyr632=)	LOC126862123, SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995280	NM_000338.3(SLC12A1):c.1902T>C (p.Ile634=)	LOC126862123, SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017676	NM_000338.3(SLC12A1):c.1911C>T (p.Phe637=)	SLC12A1, LOC126862123	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885789	NM_000338.3(SLC12A1):c.1917C>T (p.Tyr639=)	LOC126862123, SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 523909	NM_000338.3(SLC12A1):c.1917C>G (p.Tyr639Ter)	LOC126862123, SLC12A1 (Y639*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1990118	NM_000338.3(SLC12A1):c.1918G>A (p.Val640Ile)	LOC126862123, SLC12A1 (V640I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871275	NM_000338.3(SLC12A1):c.1923T>C (p.Tyr641=)	LOC126862123, SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2756010	NM_000338.3(SLC12A1):c.1925_1926del (p.Val642fs)	LOC126862123, SLC12A1 (V642fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2848047	NM_000338.3(SLC12A1):c.1942+9A>G	LOC126862123, SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2767513	NM_000338.3(SLC12A1):c.1942+16_1942+19del	LOC126862123, SLC12A1	Deletion (intron variant)	not provided	GLikely benign
Select item 3009780	NM_000338.3(SLC12A1):c.1942+18T>G	LOC126862123, SLC12A1	Single nucleotide variant (intron 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: 22