ClinVar for MedGen (Select 1648401) - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3238651	NM_006618.5(KDM5B):c.1520C>G (p.Ser507Ter)	KDM5B (S462* +3 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal recessive 65	GLikely pathogenic
Select item 3236595	NM_006618.5(KDM5B):c.4132C>T (p.Gln1378Ter)	KDM5B (Q1333* +3 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal recessive 65	GLikely pathogenic
Select item 3233503	NM_006618.5(KDM5B):c.3861dup (p.Tyr1288fs)	KDM5B (Y1243fs +3 more)	Duplication (frameshift variant)	Intellectual disability, autosomal recessive 65	GPathogenic
Select item 3065927	NM_006618.5(KDM5B):c.2589+1G>A	KDM5B	Single nucleotide variant (splice donor variant)	Intellectual disability, autosomal recessive 65	GLikely pathogenic
Select item 3065163	NM_006618.5(KDM5B):c.4043A>C (p.Glu1348Ala)	KDM5B (E1303A +3 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 65	GUncertain significance
Select item 2687877	NM_006618.5(KDM5B):c.3309_3312del (p.Arg1103fs)	KDM5B (R1058fs +3 more)	Deletion (frameshift variant)	Intellectual disability, autosomal recessive 65	GLikely pathogenic
Select item 2674588	NM_006618.5(KDM5B):c.469A>T (p.Thr157Ser)	KDM5B (T152S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 65	GUncertain significance
Select item 2672380	NM_006618.5(KDM5B):c.292C>T (p.Arg98Cys)	KDM5B (R93C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 65 +1 more	GUncertain significance
Select item 2627773	NM_006618.5(KDM5B):c.1795G>T (p.Ala599Ser)	KDM5B (A554S +3 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 65	GUncertain significance
Select item 2627772	NM_006618.5(KDM5B):c.3085-4T>G	KDM5B	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 65	GUncertain significance
Select item 2584391	NM_006618.5(KDM5B):c.2830dup (p.Leu944fs)	KDM5B (L899fs +3 more)	Duplication (frameshift variant)	Intellectual disability, autosomal recessive 65	GPathogenic
Select item 2576173	NM_006618.5(KDM5B):c.2265C>G (p.Tyr755Ter)	KDM5B (Y710* +3 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2505094	NM_006618.5(KDM5B):c.2074T>G (p.Cys692Gly)	KDM5B (C647G +3 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 65	Gnot provided
Select item 2505093	NM_006618.5(KDM5B):c.4109_4113del (p.Leu1370fs)	KDM5B (L1325fs +3 more)	Deletion (frameshift variant)	Intellectual disability, autosomal recessive 65	Gnot provided
Select item 2500805	NM_006618.5(KDM5B):c.998_1004del (p.Ser333fs)	KDM5B (S288fs +3 more)	Deletion (frameshift variant)	Intellectual disability, autosomal recessive 65	GLikely pathogenic
Select item 2500707	NM_006618.5(KDM5B):c.2117del (p.Cys706fs)	KDM5B (C661fs +3 more)	Deletion (frameshift variant)	Intellectual disability, autosomal recessive 65	GPathogenic
Select item 2444377	NM_006618.5(KDM5B):c.3635del (p.Gly1212fs)	KDM5B (G1167fs +3 more)	Deletion (frameshift variant)	Intellectual disability, autosomal recessive 65	GLikely pathogenic
Select item 2440970	NM_006618.5(KDM5B):c.3224del (p.Asn1075fs)	KDM5B (N1030fs +3 more)	Deletion (frameshift variant)	Intellectual disability, autosomal recessive 65	GLikely pathogenic
Select item 2440966	NM_006618.5(KDM5B):c.418G>T (p.Glu140Ter)	KDM5B (E135* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal recessive 65	GLikely pathogenic
Select item 2433063	NM_006618.5(KDM5B):c.4397A>G (p.His1466Arg)	KDM5B (H1421R +3 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 65	GUncertain significance
Select item 2433062	NM_006618.5(KDM5B):c.2373C>G (p.Phe791Leu)	KDM5B (F746L +3 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 65	GUncertain significance
Select item 2433061	NM_006618.5(KDM5B):c.2986G>T (p.Glu996Ter)	KDM5B (E1032* +3 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal recessive 65	GUncertain significance
Select item 2433060	NM_006618.5(KDM5B):c.602C>T (p.Thr201Ile)	KDM5B (T196I +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 65	GUncertain significance
Select item 2433059	NM_006618.5(KDM5B):c.1541G>A (p.Gly514Asp)	KDM5B (G469D +3 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 65	GUncertain significance
Select item 2433058	NM_006618.5(KDM5B):c.2524C>T (p.Leu842Phe)	KDM5B (L797F +3 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 65	GUncertain significance
Select item 2429904	NM_006618.5(KDM5B):c.4189C>T (p.Arg1397Ter)	KDM5B (R1352* +3 more)	Single nucleotide variant (nonsense)	Autism spectrum disorder +1 more	GConflicting classifications of pathogenicity
Select item 1992395	NM_006618.5(KDM5B):c.453_454del (p.Trp152fs)	KDM5B (W147fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal recessive 65	GPathogenic
Select item 1804411	NM_006618.5(KDM5B):c.3139C>T (p.Arg1047Ter)	KDM5B (R1002* +3 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal recessive 65 +1 more	GLikely pathogenic
Select item 1698907	NM_006618.5(KDM5B):c.293G>C (p.Arg98Pro)	KDM5B (R93P +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 65	GUncertain significance
Select item 1324612	NM_006618.5(KDM5B):c.2474+1G>A	KDM5B	Single nucleotide variant (splice donor variant)	Intellectual disability, autosomal recessive 65	GLikely pathogenic
Select item 1300061	NM_006618.5(KDM5B):c.747G>A (p.Thr249=)	KDM5B	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 65 +1 more	GBenign
Select item 1300060	NM_006618.5(KDM5B):c.1887C>T (p.His629=)	KDM5B	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 65	GBenign
Select item 1300059	NM_006618.5(KDM5B):c.2198+25dup	KDM5B	Duplication (intron variant)	Intellectual disability, autosomal recessive 65	GBenign
Select item 1293636	NM_006618.5(KDM5B):c.2184C>T (p.Tyr728=)	KDM5B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1269768	NM_006618.5(KDM5B):c.3150C>G (p.Pro1050=)	KDM5B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1192275	NM_006618.5(KDM5B):c.2945+1G>A	KDM5B	Single nucleotide variant (splice donor variant)	Intellectual disability, autosomal recessive 65	GLikely pathogenic
Select item 1184541	NM_006618.5(KDM5B):c.2251C>T (p.Arg751Ter)	KDM5B (R706* +3 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1174778	NM_006618.5(KDM5B):c.712-4del	KDM5B	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1032469	NM_006618.5(KDM5B):c.3592G>A (p.Ala1198Thr)	KDM5B (A1153T +3 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 65	GUncertain significance
Select item 1029059	NM_006618.5(KDM5B):c.2807A>T (p.Asp936Val)	KDM5B (D936V +3 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 65	GUncertain significance
Select item 1029058	NM_006618.5(KDM5B):c.1313T>C (p.Phe438Ser)	KDM5B (F393S +3 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 65	GUncertain significance
Select item 976368	NM_006618.5(KDM5B):c.1286T>G (p.Ile429Ser)	KDM5B (I384S +3 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 65	GUncertain significance
Select item 845733	NM_006618.5(KDM5B):c.202C>A (p.Pro68Thr)	KDM5B, LOC129932249 (P68T)	Single nucleotide variant (missense variant +1 more)	KDM5B-related disorder +2 more	GUncertain significance
Select item 816679	NM_006618.5(KDM5B):c.3652dup (p.Cys1218fs)	KDM5B (C1218fs +3 more)	Duplication (frameshift variant)	Intellectual disability, autosomal recessive 65	GLikely pathogenic
Select item 816677	NM_006618.5(KDM5B):c.2338A>G (p.Lys780Glu)	KDM5B (K735E +3 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 65	GUncertain significance
Select item 727824	NM_006618.5(KDM5B):c.2320A>G (p.Lys774Glu)	KDM5B (K729E +3 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 65 +1 more	GConflicting classifications of pathogenicity
Select item 626239	NM_006618.5(KDM5B):c.895C>T (p.Arg299Ter)	KDM5B (R299* +3 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal recessive 65 +1 more	GPathogenic/Likely pathogenic
Select item 560604	NM_006618.5(KDM5B):c.622dup (p.Tyr208fs)	KDM5B (Y208fs +1 more)	Duplication (frameshift variant +1 more)	Intellectual disability, autosomal recessive 65	GPathogenic
Select item 560603	NM_006618.5(KDM5B):c.3799del (p.Gln1267fs)	KDM5B (Q1303fs +3 more)	Deletion (frameshift variant)	Intellectual disability, autosomal recessive 65	GPathogenic
Select item 560602	NM_006618.5(KDM5B):c.787C>T (p.Pro263Ser)	KDM5B (P299S +3 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 65	GPathogenic
Select item 560601	c.2475-2A-G	KDM5B	Single nucleotide variant	Intellectual disability, autosomal recessive 65	GPathogenic
Select item 560600	NM_006618.5(KDM5B):c.4109T>G (p.Leu1370Ter)	KDM5B (L1370* +3 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal recessive 65	GLikely pathogenic

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Items: 52