"Genome-Nilou Lab"[submitter] AND "INTS1"[gene] - 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 1185333	NM_001080453.3(INTS1):c.4489+26C>T	INTS1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GBenign
Select item 1185405	NM_001080453.3(INTS1):c.4074+61G>C	INTS1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GBenign
Select item 1185406	NM_001080453.3(INTS1):c.4074+7T>A	INTS1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies +1 more	GBenign
Select item 1185407	NM_001080453.3(INTS1):c.3703+25A>G	INTS1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GBenign
Select item 1185408	NM_001080453.3(INTS1):c.3703+7T>C	INTS1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GBenign
Select item 1185409	NM_001080453.3(INTS1):c.3430-70A>G	INTS1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GBenign
Select item 1185410	NM_001080453.3(INTS1):c.2976+80C>T	INTS1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GBenign
Select item 1185411	NM_001080453.3(INTS1):c.2319-94G>A	INTS1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GBenign
Select item 1185412	NM_001080453.3(INTS1):c.2165+15C>T	INTS1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GBenign
Select item 1185413	NM_001080453.3(INTS1):c.1945T>C (p.Leu649=)	INTS1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies +1 more	GBenign
Select item 1185414	NM_001080453.3(INTS1):c.1911-9A>G	INTS1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies +1 more	GBenign
Select item 1185415	NM_001080453.3(INTS1):c.1911-19T>C	INTS1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies +1 more	GBenign
Select item 1185416	NM_001080453.3(INTS1):c.1910+27T>C	INTS1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GBenign
Select item 1185417	NM_001080453.3(INTS1):c.1833-64G>T	INTS1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GBenign
Select item 1185483	NM_001080453.3(INTS1):c.1832+18T>C	INTS1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GBenign
Select item 1185484	NM_001080453.3(INTS1):c.1602+57A>G	INTS1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GBenign
Select item 1185485	NM_001080453.3(INTS1):c.1138-51T>C	INTS1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GBenign
Select item 1185486	NM_001080453.3(INTS1):c.950+14T>C	INTS1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies +1 more	GBenign
Select item 1185487	NM_001080453.3(INTS1):c.546+7G>A	INTS1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GBenign
Select item 1185488	NM_001080453.3(INTS1):c.350-47T>C	INTS1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	GBenign
Select item 1185489	NM_001080453.3(INTS1):c.189C>T (p.Ala63=)	INTS1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies +1 more	GBenign
Select item 1185490	NM_001080453.3(INTS1):c.72A>G (p.Pro24=)	INTS1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies +1 more	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: 22