C5193134[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2433075	NM_001348716.2(KDM6B):c.259C>T (p.His87Tyr)	KDM6B (H87Y)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 2433085	NM_001348716.2(KDM6B):c.575G>A (p.Arg192Gln)	KDM6B (R192Q)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities +1 more	GUncertain significance
Select item 2433079	NM_001348716.2(KDM6B):c.586C>G (p.Pro196Ala)	KDM6B (P196A)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 2433095	NM_001348716.2(KDM6B):c.587C>T (p.Pro196Leu)	KDM6B (P196L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 2433082	NM_001348716.2(KDM6B):c.866C>T (p.Ala289Val)	KDM6B (A289V)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 2433083	NM_001348716.2(KDM6B):c.881G>A (p.Arg294His)	KDM6B (R294H)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 2433089	NM_001348716.2(KDM6B):c.1019G>A (p.Arg340His)	KDM6B (R340H)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely benign
Select item 2433072	NM_001348716.2(KDM6B):c.1069G>A (p.Gly357Arg)	KDM6B (G357R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 2251446	NM_001348716.2(KDM6B):c.1244C>T (p.Pro415Leu)	KDM6B (P415L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2433088	NM_001348716.2(KDM6B):c.1270C>T (p.His424Tyr)	KDM6B (H424Y)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 2433074	NM_001348716.2(KDM6B):c.1282C>T (p.Pro428Ser)	KDM6B (P428S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 2433080	NM_001348716.2(KDM6B):c.1552C>T (p.Pro518Ser)	KDM6B (P518S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 2433084	NM_001348716.2(KDM6B):c.1718C>T (p.Pro573Leu)	KDM6B (P573L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 2433090	NM_001348716.2(KDM6B):c.2020C>T (p.Pro674Ser)	KDM6B (P674S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 2433093	NM_001348716.2(KDM6B):c.2166A>C (p.Gln722His)	KDM6B (Q722H)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 2433077	NM_001348716.2(KDM6B):c.2173C>G (p.Leu725Val)	KDM6B (L725V)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 2278616	NM_001348716.2(KDM6B):c.2477C>G (p.Ser826Cys)	KDM6B (S826C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 975577	NM_001348716.2(KDM6B):c.2524C>G (p.Pro842Ala)	KDM6B (P842A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2433091	NM_001348716.2(KDM6B):c.2628G>T (p.Gly876=)	KDM6B	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 2433081	NM_001348716.2(KDM6B):c.2789G>C (p.Arg930Pro)	KDM6B (R930P)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 2690481	NM_001348716.2(KDM6B):c.2809G>A (p.Asp937Asn)	KDM6B (D937N)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely benign
Select item 2433092	NM_001348716.2(KDM6B):c.2869C>T (p.Gln957Ter)	KDM6B (Q957*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GLikely pathogenic
Select item 2430317	NM_001348716.2(KDM6B):c.2995C>T (p.Arg999Cys)	KDM6B (R999C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities +1 more	GUncertain significance
Select item 2433078	NM_001348716.2(KDM6B):c.3014CCAAGG[3] (p.Lys1008_Val1009insAlaLys)	KDM6B	Microsatellite (inframe_insertion)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 2433076	NM_001348716.2(KDM6B):c.3157_3174dup (p.Pro1058_Ser1059insProSerAlaProAlaPro)	KDM6B	Duplication (inframe_insertion)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 2232626	NM_001348716.2(KDM6B):c.3940C>T (p.Pro1314Ser)	KDM6B, LOC121587574 (P1314S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2433087	NM_001348716.2(KDM6B):c.3949G>A (p.Ala1317Thr)	KDM6B, LOC121587574 (A1317T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 2433094	NM_001348716.2(KDM6B):c.4663dup (p.Val1555fs)	KDM6B (V1555fs)	Duplication (frameshift variant)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance
Select item 2433086	NM_001348716.2(KDM6B):c.4925C>A (p.Ser1642Ter)	KDM6B (S1642* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 29