ClinVar for MedGen (Select 934608) - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3339533	NM_018255.4(ELP2):c.907C>T (p.Gln303Ter)	ELP2 (Q154* +5 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, autosomal recessive 58	GPathogenic
Select item 3336513	NM_018255.4(ELP2):c.418C>T (p.Arg140Ter)	ELP2 (R140*)	Single nucleotide variant (nonsense +2 more)	Intellectual disability, autosomal recessive 58	GPathogenic
Select item 3067957	NM_018255.4(ELP2):c.1443_1458dup (p.Cys487fs)	ELP2 (C338fs +8 more)	Duplication (frameshift variant +1 more)	Intellectual disability, autosomal recessive 58	GLikely pathogenic
Select item 3065744	NM_018255.4(ELP2):c.2438A>T (p.Asp813Val)	ELP2 (D664V +8 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 58	GUncertain significance
Select item 2573075	NM_018255.4(ELP2):c.2237del (p.Cys746fs)	ELP2 (C597fs +8 more)	Deletion (frameshift variant +1 more)	Intellectual disability, autosomal recessive 58	GLikely pathogenic
Select item 2505101	NM_018255.4(ELP2):c.1544C>T (p.Ala515Val)	ELP2 (A366V +8 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 58	GUncertain significance
Select item 2441215	NM_018255.4(ELP2):c.445G>T (p.Val149Leu)	ELP2 (G149C +2 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 58	GUncertain significance
Select item 2441214	NM_018255.4(ELP2):c.1923G>A (p.Trp641Ter)	ELP2 (W492* +8 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, autosomal recessive 58	GUncertain significance
Select item 2373129	NM_018255.4(ELP2):c.212A>G (p.Asp71Gly)	ELP2 (D71G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1992333	NM_018255.4(ELP2):c.2084_2087del (p.Val695fs)	ELP2 (V625fs +8 more)	Deletion (frameshift variant +1 more)	Intellectual disability, autosomal recessive 58	GLikely pathogenic
Select item 1339828	NM_018255.4(ELP2):c.454C>A (p.Leu152Ile)	ELP2 (L152I +1 more)	Single nucleotide variant (intron variant +2 more)	not provided	GUncertain significance
Select item 1033377	NM_018255.4(ELP2):c.2045A>T (p.Lys682Met)	ELP2 (K656M +8 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 58	GUncertain significance
Select item 1033375	NM_018255.4(ELP2):c.178C>T (p.Arg60Ter)	ELP2 (R60*)	Single nucleotide variant (nonsense +2 more)	Intellectual disability, autosomal recessive 58 +1 more	GConflicting classifications of pathogenicity
Select item 1033373	NM_018255.4(ELP2):c.918A>T (p.Arg306Ser)	ELP2 (R306S +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 58	GUncertain significance
Select item 1031244	NM_018255.4(ELP2):c.2236T>C (p.Cys746Arg)	ELP2 (C676R +8 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 58	GUncertain significance
Select item 1030308	NM_018255.4(ELP2):c.1381C>A (p.Leu461Ile)	ELP2 (L411I +8 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 58	GUncertain significance
Select item 1030307	NM_018255.4(ELP2):c.1239A>C (p.Arg413Ser)	ELP2 (R408S +7 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 58	GUncertain significance
Select item 1012186	NM_018255.4(ELP2):c.293dup (p.Leu98fs)	ELP2 (L98fs)	Duplication (frameshift variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1012183	NM_018255.4(ELP2):c.1331T>C (p.Leu444Ser)	ELP2 (L295S +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 870397	NM_018255.4(ELP2):c.1657C>T (p.Gln553Ter)	ELP2 (Q527* +8 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, autosomal recessive 58	GPathogenic
Select item 870396	NM_018255.4(ELP2):c.1385G>A (p.Arg462Gln)	ELP2 (R313Q +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 788374	NM_018255.4(ELP2):c.2396C>T (p.Ala799Val)	ELP2 (A749V +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 474990	NM_024989.4(PGAP1):c.1558A>G (p.Ile520Val)	PGAP1 (I520V +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 374912	NM_018255.4(ELP2):c.1385G>T (p.Arg462Leu)	ELP2 (R462L +8 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 58	GPathogenic
Select item 374911	NM_018255.4(ELP2):c.1663A>C (p.Thr555Pro)	ELP2 (T555P +8 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 58	GPathogenic
Select item 225038	NM_018255.4(ELP2):c.1384C>T (p.Arg462Trp)	ELP2 (R527W +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 225008	NM_018255.4(ELP2):c.617A>G (p.His206Arg)	ELP2 (H271R +4 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic

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Items: 27