"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LOC1192 - ClinVar

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

Search results

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2128848	NM_000629.3(IFNAR1):c.10G>A (p.Val4Ile)	LOC119230225, IFNAR1 (V4I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1917845	NM_000629.3(IFNAR1):c.14T>G (p.Leu5Arg)	IFNAR1, LOC119230225 (L5R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2802682	NM_000629.3(IFNAR1):c.15C>A (p.Leu5=)	IFNAR1, LOC119230225	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1632806	NM_000629.3(IFNAR1):c.16C>T (p.Leu6=)	IFNAR1, LOC119230225	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1497945	NM_000629.3(IFNAR1):c.17T>C (p.Leu6Pro)	IFNAR1, LOC119230225 (L6P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2985054	NM_000629.3(IFNAR1):c.18G>A (p.Leu6=)	IFNAR1, LOC119230225	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1979265	NM_000629.3(IFNAR1):c.21C>T (p.Gly7=)	IFNAR1, LOC119230225	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2011494	NM_000629.3(IFNAR1):c.24G>A (p.Ala8=)	IFNAR1, LOC119230225	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2050663	NM_000629.3(IFNAR1):c.27del (p.Thr10fs)	IFNAR1, LOC119230225 (T10fs)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 1410801	NM_000629.3(IFNAR1):c.28A>G (p.Thr10Ala)	IFNAR1, LOC119230225 (T10A)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1431666	NM_000629.3(IFNAR1):c.31C>G (p.Leu11Val)	IFNAR1, LOC119230225 (L11V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1590102	NM_000629.3(IFNAR1):c.36G>C (p.Val12=)	IFNAR1, LOC119230225	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1130060	NM_000629.3(IFNAR1):c.36G>A (p.Val12=)	IFNAR1, LOC119230225	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1494355	NM_000629.3(IFNAR1):c.46G>A (p.Val16Met)	IFNAR1, LOC119230225 (V16M)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2021058	NM_000629.3(IFNAR1):c.50C>T (p.Ala17Val)	IFNAR1, LOC119230225 (A17V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1354650	NM_000629.3(IFNAR1):c.55T>G (p.Trp19Gly)	IFNAR1, LOC119230225 (W19G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2700396	NM_000629.3(IFNAR1):c.64T>G (p.Ser22Ala)	IFNAR1, LOC119230225 (S22A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1420808	NM_000629.3(IFNAR1):c.65CCGCAG[1] (p.Ala24_Ala25del)	IFNAR1, LOC119230225	Microsatellite (inframe_deletion +2 more)	not provided	GUncertain significance
Select item 2193122	NM_000629.3(IFNAR1):c.69A>G (p.Ala23=)	IFNAR1, LOC119230225	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2742719	NM_000629.3(IFNAR1):c.72C>T (p.Ala24=)	IFNAR1, LOC119230225	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1614318	NM_000629.3(IFNAR1):c.76+7G>A	IFNAR1, LOC119230225	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2100522	NM_000629.3(IFNAR1):c.76+9C>A	IFNAR1, LOC119230225	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870907	NM_000629.3(IFNAR1):c.76+10G>A	IFNAR1, LOC119230225	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: 23