ClinVar for MedGen (Select 1648488) - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3254904	NM_003011.4(SET):c.103_104del (p.His34_Ile35insTer)	SET	Deletion (nonsense)	Intellectual disability, autosomal dominant 58	GLikely pathogenic
Select item 2585464	NM_003011.4(SET):c.783_785del (p.Glu261del)	SET (E250del +3 more)	Deletion (inframe_deletion)	Intellectual disability, autosomal dominant 58	GUncertain significance
Select item 2505260	NM_003011.4(SET):c.138dup (p.Glu47Ter)	SET (E36* +3 more)	Duplication (nonsense)	Intellectual disability, autosomal dominant 58	GLikely pathogenic
Select item 2500283	NM_003011.4(SET):c.219del (p.Glu73fs)	SET (E62fs +3 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 58	GLikely pathogenic
Select item 2435819	NM_003011.4(SET):c.787G>A (p.Asp263Asn)	SET (D252N +3 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 58	GUncertain significance
Select item 2431377	NM_003011.4(SET):c.379T>C (p.Tyr127His)	SET (Y116H +3 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 58	GUncertain significance
Select item 1712279	NM_003011.4(SET):c.238A>T (p.Asn80Tyr)	SET (N69Y +3 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 58	GUncertain significance
Select item 1707481	NM_001287737.2(SETSIP):c.648G>A (p.Glu216=)	SETSIP	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 58	GPathogenic
Select item 1344907	NM_003011.4(SET):c.458C>A (p.Ser153Ter)	SET (S142* +3 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 58	GPathogenic
Select item 1332944	NM_003011.4(SET):c.493-14C>T	SET	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 58 +1 more	GBenign
Select item 1332943	NM_003011.4(SET):c.132-17C>T	SET	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 58 +1 more	GBenign
Select item 1211562	NM_003011.4(SET):c.670G>A (p.Asp224Asn)	SET (D213N +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1031254	NM_003011.4(SET):c.73+351A>T	LOC130002719, SET (Q7L)	Single nucleotide variant (intron variant +1 more)	Intellectual disability, autosomal dominant 58	GUncertain significance
Select item 975964	NM_003011.4(SET):c.573del (p.Trp192fs)	SET (W181fs +3 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 58	GLikely pathogenic
Select item 930935	NM_003011.4(SET):c.73_73+1insAAAAAGAACAGCAAGAAGCGATTGAACACATTGAT	SET	Insertion (intron variant +1 more)	Intellectual disability, autosomal dominant 58	GUncertain significance
Select item 873445	NM_003011.4(SET):c.74-3C>G	SET	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 58	GUncertain significance
Select item 870584	NM_003011.4(SET):c.340_341del (p.Glu114fs)	SET (E103fs +3 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 58	GLikely pathogenic
Select item 860686	NM_003011.4(SET):c.663+5G>C	SET	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 58 +1 more	GPathogenic
Select item 817338	NM_003011.4(SET):c.78_81del (p.Lys26fs)	SET (K17fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 807681	NM_003011.4(SET):c.418_419del (p.Ser140fs)	SET (S131fs +3 more)	Microsatellite (frameshift variant)	Intellectual disability, autosomal dominant 58	GPathogenic
Select item 560209	NM_003011.4(SET):c.660_662del (p.Tyr220_Leu221delinsTer)	SET	Deletion (nonsense)	Intellectual disability, autosomal dominant 58	GPathogenic
Select item 560208	NM_003011.4(SET):c.650_651dup (p.Gln218fs)	SET (Q207fs +3 more)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 58	GPathogenic
Select item 560207	NM_003011.4(SET):c.313C>T (p.His105Tyr)	SET (H118Y +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 560206	NM_003011.4(SET):c.244T>G (p.Trp82Gly)	SET (W95G +3 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 58	GPathogenic
Select item 521454	NM_003011.4(SET):c.130_133del (p.Arg44fs)	SET (R44fs +3 more)	Deletion (frameshift variant)	Intellectual disability +4 more	GPathogenic/Likely pathogenic

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Items: 25