ClinVar for MedGen (Select 482168) - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3257737	NM_001040616.3(LINS1):c.2134del (p.Arg711_Ile712insTer)	LINS1	Deletion (nonsense +1 more)	Intellectual disability, autosomal recessive 27	GLikely pathogenic
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 2682503	NM_001040616.3(LINS1):c.631+1G>A	LINS1	Single nucleotide variant (splice donor variant)	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 2431402	NM_001040616.3(LINS1):c.1921_1923delinsAC (p.Glu641fs)	LINS1 (E392fs +2 more)	Indel (frameshift variant +1 more)	Intellectual disability, autosomal recessive 27	GLikely pathogenic
Select item 1805586	NM_001040616.3(LINS1):c.1815G>T (p.Met605Ile)	LINS1 (M356I +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 27	GUncertain significance
Select item 1708962	NM_001040616.3(LINS1):c.2223GTT[1] (p.Leu743del)	LINS1 (L494del +2 more)	Microsatellite (inframe_deletion +1 more)	Intellectual disability, autosomal recessive 27	GUncertain significance
Select item 1706445	NM_001040616.3(LINS1):c.1529T>C (p.Leu510Pro)	LINS1 (L261P +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 27	GUncertain significance
Select item 1704395	NM_001040616.3(LINS1):c.361A>C (p.Lys121Gln)	LINS1 (K121Q)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, autosomal recessive 27	GLikely benign
Select item 1684037	NM_001040616.3(LINS1):c.1727_1736del (p.Arg576fs)	LINS1 (R327fs +2 more)	Deletion (frameshift variant +1 more)	Intellectual disability, autosomal recessive 27	GLikely pathogenic
Select item 1679222	NM_001040616.3(LINS1):c.1432G>T (p.Glu478Ter)	LINS1 (E229* +2 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, autosomal recessive 27	GLikely pathogenic
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 1333602	NM_001040616.3(LINS1):c.1424_1425del (p.Gln475fs)	LINS1 (Q226fs +2 more)	Deletion (frameshift variant +1 more)	Intellectual disability, autosomal recessive 27	GLikely pathogenic
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 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 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 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 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 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 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 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 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 984698	NM_001040616.3(LINS1):c.786_842del (p.Arg263_Ser281del)	LINS1	Deletion (inframe_deletion +1 more)	Intellectual disability, autosomal recessive 27	GUncertain significance
Select item 982565	NM_001040616.3(LINS1):c.557_558del (p.Lys186fs)	LINS1 (K171fs +1 more)	Deletion (frameshift variant +2 more)	Intellectual disability, autosomal recessive 27	GLikely pathogenic
Select item 982564	NM_001040616.3(LINS1):c.597del (p.Glu200fs)	LINS1 (E185fs +1 more)	Deletion (frameshift variant +2 more)	Intellectual disability, autosomal recessive 27	GLikely pathogenic
Select item 915272	NM_001040616.3(LINS1):c.2270T>A (p.Leu757Ter)	LINS1 (L508* +2 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 800811	NM_001040616.3(LINS1):c.717C>A (p.Cys239Ter)	LINS1 (C224* +1 more)	Single nucleotide variant (nonsense +2 more)	Intellectual disability, autosomal recessive 27	GPathogenic
Select item 598240	NM_001040616.3(LINS1):c.304del (p.Arg102fs)	LINS1 (R102fs)	Deletion (frameshift variant +2 more)	Intellectual disability, autosomal recessive 27 +1 more	GConflicting classifications of pathogenicity
Select item 588781	NM_001040616.3(LINS1):c.1993G>A (p.Gly665Arg)	LINS1 (G665R +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 27 +2 more	GConflicting classifications of pathogenicity
Select item 587881	NM_001040616.3(LINS1):c.661G>A (p.Asp221Asn)	LINS1 (D221N +1 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 27 +1 more	GUncertain significance
Select item 445417	NM_001040616.3(LINS1):c.431del (p.Leu144fs)	LINS1 (L129fs +1 more)	Deletion (frameshift variant +2 more)	Intellectual disability, autosomal recessive 27 +2 more	GConflicting classifications of pathogenicity
Select item 374936	NM_001040616.3(LINS1):c.937G>A (p.Glu313Lys)	LINS1 (E313K +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 27	GLikely pathogenic
Select item 280510	NM_001040616.3(LINS1):c.1178T>G (p.Leu393Ter)	LINS1 (L393* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 120183	NM_001040616.3(LINS1):c.1219_1222+1del	LINS1	Deletion (splice donor variant)	Intellectual disability, autosomal recessive 27	GPathogenic
Select item 120182	NM_001040616.3(LINS1):c.985_988del (p.His328_His329insTer)	LINS1	Deletion (nonsense +1 more)	Intellectual disability, autosomal recessive 27	GPathogenic

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Items: 40