"Baylor Genetics"[submitter] AND "LINS1"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1030057	NM_001040616.3(LINS1):c.2032C>T (p.Pro678Ser)	LINS1 (P627S +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 27	GUncertain significance
Select item 1031762	NM_001040616.3(LINS1):c.2004G>C (p.Arg668Ser)	LINS1 (R617S +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 27	GUncertain significance
Select item 588781	NM_001040616.3(LINS1):c.1993G>A (p.Gly665Arg)	LINS1 (G665R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1031761	NM_001040616.3(LINS1):c.1826C>G (p.Ala609Gly)	LINS1 (A360G +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 27	GUncertain significance
Select item 1031760	NM_001040616.3(LINS1):c.1487T>C (p.Leu496Ser)	LINS1 (L247S +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 27	GUncertain significance
Select item 1028987	NM_001040616.3(LINS1):c.1481T>C (p.Ile494Thr)	LINS1 (I443T +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 27 +2 more	GUncertain significance
Select item 1031758	NM_001040616.3(LINS1):c.1013C>T (p.Ala338Val)	LINS1 (A338V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1032566	NM_001040616.3(LINS1):c.997G>A (p.Asp333Asn)	LINS1 (D84N +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 27	GUncertain significance
Select item 587881	NM_001040616.3(LINS1):c.661G>A (p.Asp221Asn)	LINS1 (D221N +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1031763	NM_001040616.3(LINS1):c.305_306delinsAA (p.Arg102Gln)	LINS1 (R102Q)	Indel (missense variant +2 more)	Intellectual disability, autosomal recessive 27	GUncertain significance
Select item 1031759	NM_001040616.3(LINS1):c.134C>T (p.Thr45Ile)	LINS1 (T45I)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 27 +1 more	GUncertain significance
Select item 625753	GRCh37/hg19 15q26.2-26.3(chr15:96873212-102389423)	ADAMTS17, ALDH1A3 +22 more	Copy number loss	not provided	GPathogenic