"Genetic Services Laboratory, University of Chicago"[submitter] AND "L - ClinVar

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

Search results

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 129485	NM_001040616.3(LINS1):c.2236A>G (p.Ile746Val)	LINS1 (I746V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 129484	NM_001040616.3(LINS1):c.2119G>A (p.Gly707Arg)	LINS1 (G707R +2 more)	Single nucleotide variant (missense variant +1 more)	LINS1-related disorder +3 more	GBenign/Likely benign
Select item 211383	NM_001040616.3(LINS1):c.1912G>A (p.Glu638Lys)	LINS1 (E638K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 435756	NM_001040616.3(LINS1):c.1908C>T (p.Asp636=)	LINS1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 435757	NM_001040616.3(LINS1):c.1887C>T (p.Tyr629=)	LINS1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 435758	NM_001040616.3(LINS1):c.1851G>T (p.Leu617=)	LINS1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 211382	NM_001040616.3(LINS1):c.1813A>G (p.Met605Val)	LINS1 (M605V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 211381	NM_001040616.3(LINS1):c.1632C>T (p.Asn544=)	LINS1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 435759	NM_001040616.3(LINS1):c.1479T>C (p.Cys493=)	LINS1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 211380	NM_001040616.3(LINS1):c.1394+4A>G	LINS1	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 211379	NM_001040616.3(LINS1):c.1347G>A (p.Met449Ile)	LINS1 (M449I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 589122	NM_001040616.3(LINS1):c.1285C>T (p.Leu429=)	LINS1	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 211378	NM_001040616.3(LINS1):c.1194A>G (p.Gln398=)	LINS1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 280510	NM_001040616.3(LINS1):c.1178T>G (p.Leu393Ter)	LINS1 (L393* +2 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, autosomal recessive 27 +1 more	GPathogenic/Likely pathogenic
Select item 129483	NM_001040616.3(LINS1):c.1124C>T (p.Thr375Ile)	LINS1 (T375I +2 more)	Single nucleotide variant (missense variant +1 more)	LINS1-related disorder +3 more	GLikely benign
Select item 978560	NM_001040616.3(LINS1):c.975G>T (p.Pro325=)	LINS1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 211386	NM_001040616.3(LINS1):c.864C>T (p.Thr288=)	LINS1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 435761	NM_001040616.3(LINS1):c.848T>A (p.Met283Lys)	LINS1 (M283K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 435762	NM_001040616.3(LINS1):c.747G>C (p.Leu249=)	LINS1	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 211385	NM_001040616.3(LINS1):c.718C>T (p.Arg240Trp)	LINS1 (R240W +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GBenign/Likely benign
Select item 211384	NM_001040616.3(LINS1):c.569G>T (p.Cys190Phe)	LINS1 (C190F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	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: 21