Related gene-specific medical variations for Gene (Select 55180) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065021	NM_001040616.3(LINS1):c.2185A>T (p.Lys729Ter)	LINS1 (K480* +2 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, autosomal recessive 27	GLikely pathogenic
Select item 2683927	NM_001040616.3(LINS1):c.1605G>A (p.Trp535Ter)	LINS1 (W286* +2 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, autosomal recessive 27	GLikely pathogenic
Select item 2441184	NM_001040616.3(LINS1):c.1222+2T>C	LINS1	Single nucleotide variant (splice donor variant)	Intellectual disability, autosomal recessive 27	GLikely pathogenic
Select item 2433459	NM_001040616.3(LINS1):c.2090T>G (p.Val697Gly)	LINS1 (V448G +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 27	GUncertain significance
Select item 2433458	NM_001040616.3(LINS1):c.332A>C (p.His111Pro)	LINS1 (H111P)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 27	GUncertain significance
Select item 2433457	NM_001040616.3(LINS1):c.562A>G (p.Ile188Val)	LINS1 (I173V +1 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 27	GUncertain significance
Select item 1341842	NM_001040616.3(LINS1):c.1909G>A (p.Val637Met)	LINS1 (V388M +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 27	GUncertain significance
Select item 1098693	NM_001040616.3(LINS1):c.725C>G (p.Thr242Ser)	LINS1 (T227S +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Intellectual disability, autosomal recessive 27	GUncertain significance
Select item 978100	NM_001040616.3(LINS1):c.490-1G>C	LINS1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 813545	NM_001040616.3(LINS1):c.839C>T (p.Pro280Leu)	LINS1 (P265L +2 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly	GUncertain significance