"PreventionGenetics, part of Exact Sciences"[submitter] AND "KDM5B"[ge - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3036833	NM_006618.5(KDM5B):c.4450G>C (p.Asp1484His)	KDM5B (D1439H +3 more)	Single nucleotide variant (missense variant)	KDM5B-related disorder	GUncertain significance
Select item 2317830	NM_006618.5(KDM5B):c.4382G>A (p.Arg1461His)	KDM5B (R1456H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 716277	NM_006618.5(KDM5B):c.4353A>G (p.Leu1451=)	KDM5B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 585147	NM_006618.5(KDM5B):c.4145G>A (p.Arg1382Gln)	KDM5B (R1382Q +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 748206	NM_006618.5(KDM5B):c.4017C>T (p.Leu1339=)	KDM5B	Single nucleotide variant (synonymous variant)	KDM5B-related disorder +1 more	GLikely benign
Select item 3058083	NM_006618.5(KDM5B):c.3963C>T (p.Asn1321=)	KDM5B	Single nucleotide variant (synonymous variant)	KDM5B-related disorder	GLikely benign
Select item 2637045	NM_006618.5(KDM5B):c.3935C>G (p.Ser1312Ter)	KDM5B (S1267* +3 more)	Single nucleotide variant (nonsense)	KDM5B-related disorder	GLikely pathogenic
Select item 3033353	NM_006618.5(KDM5B):c.3842G>A (p.Arg1281Gln)	KDM5B (R1236Q +3 more)	Single nucleotide variant (missense variant)	KDM5B-related disorder	GUncertain significance
Select item 2630485	NM_006618.5(KDM5B):c.3640C>T (p.Arg1214Ter)	KDM5B (R1169* +3 more)	Single nucleotide variant (nonsense)	KDM5B-related disorder	GLikely pathogenic
Select item 2633332	NM_006618.5(KDM5B):c.3544C>T (p.Gln1182Ter)	KDM5B (Q1137* +3 more)	Single nucleotide variant (nonsense)	KDM5B-related disorder	GLikely pathogenic
Select item 715853	NM_006618.5(KDM5B):c.3204T>C (p.Ala1068=)	KDM5B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3041398	NM_006618.5(KDM5B):c.3036C>T (p.Asp1012=)	KDM5B	Single nucleotide variant (synonymous variant)	KDM5B-related disorder	GLikely benign
Select item 3060630	NM_006618.5(KDM5B):c.2916C>T (p.Asp972=)	KDM5B	Single nucleotide variant (synonymous variant)	KDM5B-related disorder	GLikely benign
Select item 3032594	NM_006618.5(KDM5B):c.2859A>T (p.Ala953=)	KDM5B	Single nucleotide variant (synonymous variant)	KDM5B-related disorder	GLikely benign
Select item 715854	NM_006618.5(KDM5B):c.2664G>A (p.Ala888=)	KDM5B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3045324	NM_006618.5(KDM5B):c.2590-3dup	KDM5B	Duplication (intron variant)	KDM5B-related disorder	GLikely benign
Select item 788084	NM_006618.5(KDM5B):c.2198G>A (p.Arg733Gln)	KDM5B (R733Q +3 more)	Single nucleotide variant (missense variant)	KDM5B-related disorder +1 more	GBenign
Select item 2594379	NM_006618.5(KDM5B):c.2197C>T (p.Arg733Trp)	KDM5B (R733W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3036745	NM_006618.5(KDM5B):c.1702-4T>C	KDM5B	Single nucleotide variant (intron variant)	KDM5B-related disorder	GLikely benign
Select item 742448	NM_006618.5(KDM5B):c.1333A>G (p.Ile445Val)	KDM5B (I481V +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3049004	NM_006618.5(KDM5B):c.1197+8C>T	KDM5B	Single nucleotide variant (intron variant)	KDM5B-related disorder	GLikely benign
Select item 3040742	NM_006618.5(KDM5B):c.999T>C (p.Ser333=)	KDM5B	Single nucleotide variant (synonymous variant)	KDM5B-related disorder	GLikely benign
Select item 2630088	NM_006618.5(KDM5B):c.997_998insTAAA (p.Ser333fs)	KDM5B (S288fs +3 more)	Insertion (frameshift variant)	KDM5B-related disorder	GLikely pathogenic
Select item 715855	NM_006618.5(KDM5B):c.984T>C (p.Asp328=)	KDM5B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3032252	NM_006618.5(KDM5B):c.921G>C (p.Val307=)	KDM5B	Single nucleotide variant (synonymous variant)	KDM5B-related disorder	GLikely benign
Select item 3035846	NM_006618.5(KDM5B):c.809-9C>T	KDM5B	Single nucleotide variant (intron variant)	KDM5B-related disorder	GLikely benign
Select item 2639809	NM_006618.5(KDM5B):c.576+8T>C	KDM5B	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2635104	NM_006618.5(KDM5B):c.488C>T (p.Pro163Leu)	KDM5B (P158L +1 more)	Single nucleotide variant (missense variant)	KDM5B-related disorder	GUncertain significance
Select item 845733	NM_006618.5(KDM5B):c.202C>A (p.Pro68Thr)	KDM5B, LOC129932249 (P68T)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 65 +2 more	GUncertain significance
Select item 3041133	NM_006618.5(KDM5B):c.-9C>A	KDM5B, LOC129932250	Single nucleotide variant (5 prime UTR variant)	KDM5B-related disorder	GLikely benign
Select item 3039408	NM_006618.5(KDM5B):c.-9C>T	KDM5B, LOC129932250	Single nucleotide variant (5 prime UTR variant)	KDM5B-related disorder	GBenign

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Items: 31