Related gene-specific medical variations for Gene (Select 7403) - ClinVar

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

Links from Gene

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2989778	NM_001291415.2(KDM6A):c.161+17C>T	KDM6A, LOC130068183	Single nucleotide variant (intron variant)	Kabuki syndrome 2	GLikely benign
Select item 2913027	NM_001291415.2(KDM6A):c.156G>A (p.Leu52=)	KDM6A, LOC130068183	Single nucleotide variant (synonymous variant +2 more)	KDM6A-related condition +1 more	GBenign/Likely benign
Select item 2842572	NM_001291415.2(KDM6A):c.152G>T (p.Gly51Val)	KDM6A, LOC130068183 (G51V)	Single nucleotide variant (missense variant +2 more)	Kabuki syndrome 2	GUncertain significance
Select item 2802332	NM_001291415.2(KDM6A):c.161+9C>T	KDM6A, LOC130068183	Single nucleotide variant (intron variant)	Kabuki syndrome 2	GLikely benign
Select item 2794170	NM_001291415.2(KDM6A):c.152G>C (p.Gly51Ala)	KDM6A, LOC130068183 (G51A)	Single nucleotide variant (missense variant +2 more)	Kabuki syndrome 2	GUncertain significance
Select item 2790504	NM_001291415.2(KDM6A):c.150C>T (p.Gly50=)	KDM6A, LOC130068183	Single nucleotide variant (synonymous variant +2 more)	Kabuki syndrome 2	GLikely benign
Select item 2744573	NM_001291415.2(KDM6A):c.177C>G (p.Phe59Leu)	KDM6A, LOC130068183 (F59L)	Single nucleotide variant (missense variant +2 more)	Kabuki syndrome 2	GUncertain significance
Select item 2742259	NM_001291415.2(KDM6A):c.162-10G>A	KDM6A, LOC130068183	Single nucleotide variant (intron variant)	Kabuki syndrome 2	GLikely benign
Select item 2740693	NM_001291415.2(KDM6A):c.162-12C>G	KDM6A, LOC130068183	Single nucleotide variant (intron variant)	Kabuki syndrome 2	GLikely benign
Select item 2689301	NM_001291415.2(KDM6A):c.613G>T (p.Ala205Ser)	KDM6A (A205S)	Single nucleotide variant (missense variant +2 more)	Kabuki syndrome 2	GUncertain significance
Select item 2582567	NM_001291415.2(KDM6A):c.2821A>G (p.Ile941Val)	KDM6A (I593V +7 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2	GUncertain significance
Select item 2582031	NM_001291415.2(KDM6A):c.160A>G (p.Ser54Gly)	KDM6A, LOC130068183 (S54G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2442336	NM_001291415.2(KDM6A):c.722_723dup (p.Lys242Ter)	KDM6A (K242*)	Duplication (nonsense +3 more)	Kabuki syndrome 2	GPathogenic
Select item 2442335	NM_001291415.2(KDM6A):c.197del (p.Gly66fs)	KDM6A (G66fs)	Deletion (frameshift variant +2 more)	Kabuki syndrome 2	GPathogenic
Select item 2442333	NM_001291415.2(KDM6A):c.357C>G (p.Tyr119Ter)	KDM6A (Y119*)	Single nucleotide variant (nonsense +2 more)	Kabuki syndrome 2	GPathogenic
Select item 2441940	NM_001291415.2(KDM6A):c.3101G>C (p.Gly1034Ala)	KDM6A (G1034A +6 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2	GUncertain significance
Select item 2440973	NM_001291415.2(KDM6A):c.2067dup (p.Asn690Ter)	KDM6A (N342* +5 more)	Duplication (nonsense +2 more)	Kabuki syndrome 2	GLikely pathogenic
Select item 2436899	NM_001291415.2(KDM6A):c.3300+1del	KDM6A	Deletion (splice donor variant)	Kabuki syndrome 2	GPathogenic
Select item 2433071	NM_001291415.2(KDM6A):c.43G>A (p.Ala15Thr)	KDM6A (A15T)	Single nucleotide variant (missense variant +2 more)	Kabuki syndrome 2	GUncertain significance
Select item 2433070	NM_001291415.2(KDM6A):c.2090A>G (p.Lys697Arg)	KDM6A (K349R +6 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2	GUncertain significance
Select item 2433069	NM_001291415.2(KDM6A):c.2543C>T (p.Thr848Ile)	KDM6A (T500I +6 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2	GUncertain significance
Select item 2429810	NM_001291415.2(KDM6A):c.3190dup (p.Trp1064fs)	KDM6A (W1012fs +5 more)	Duplication (frameshift variant +1 more)	Autism spectrum disorder	GPathogenic
Select item 2413342	NM_001291415.2(KDM6A):c.225+14G>T	KDM6A, LOC130068184	Single nucleotide variant (intron variant)	Kabuki syndrome 2	GLikely benign
Select item 2262932	NM_001291415.2(KDM6A):c.148G>A (p.Gly50Ser)	KDM6A, LOC130068183 (G50S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2256271	NM_001291415.2(KDM6A):c.178G>T (p.Val60Leu)	KDM6A, LOC130068183 (V60L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2117619	NM_001291415.2(KDM6A):c.162-18C>T	KDM6A, LOC130068183	Single nucleotide variant (intron variant)	Kabuki syndrome 2	GLikely benign
Select item 2096219	NM_001291415.2(KDM6A):c.162-17T>G	KDM6A, LOC130068183	Single nucleotide variant (intron variant)	Kabuki syndrome 2	GLikely benign
Select item 2037682	NM_001291415.2(KDM6A):c.147C>T (p.Leu49=)	KDM6A, LOC130068183	Single nucleotide variant (synonymous variant +2 more)	Kabuki syndrome 2	GBenign
Select item 1992397	NM_001291415.2(KDM6A):c.3838G>C (p.Val1280Leu)	KDM6A (V1194L +6 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2	GUncertain significance
Select item 1966898	NM_001291415.2(KDM6A):c.154C>T (p.Leu52=)	KDM6A, LOC130068183	Single nucleotide variant (synonymous variant +2 more)	Kabuki syndrome 2	GLikely benign
Select item 1943225	NM_001291415.2(KDM6A):c.225+16G>C	KDM6A, LOC130068184	Single nucleotide variant (intron variant)	Kabuki syndrome 2	GBenign
Select item 1914896	NM_001291415.2(KDM6A):c.162-17T>C	KDM6A, LOC130068183	Single nucleotide variant (intron variant)	Kabuki syndrome 2	GLikely benign
Select item 1809042	GRCh37/hg19 Xp11.3(chrX:44869652-44995081)x3	KDM6A	Copy number gain	not provided	GUncertain significance
Select item 1700196	NM_001291415.2(KDM6A):c.3677G>A (p.Trp1226Ter)	KDM6A (W1095* +5 more)	Single nucleotide variant (nonsense +1 more)	Kabuki syndrome 2	GLikely pathogenic
Select item 1696543	NM_001291415.2(KDM6A):c.1613A>G (p.Asn538Ser)	KDM6A (N190S +4 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2	GUncertain significance
Select item 1551152	NM_001291415.2(KDM6A):c.162-5C>T	KDM6A, LOC130068183	Single nucleotide variant (intron variant)	Kabuki syndrome 2	GLikely benign
Select item 1526797	GRCh37/hg19 Xp11.3(chrX:44939212-44985773)	KDM6A	Copy number loss	not specified	GPathogenic
Select item 1467095	NM_001291415.2(KDM6A):c.163C>T (p.Arg55Cys)	KDM6A, LOC130068183 (R55C)	Single nucleotide variant (missense variant +2 more)	Kabuki syndrome 2	GUncertain significance
Select item 1341614	NM_001291415.2(KDM6A):c.162-12_162-11del	KDM6A, LOC130068183	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1340327	GRCh37/hg19 Xp11.3(chrX:44715970-44741826)x0	KDM6A	Copy number loss	not provided	GPathogenic
Select item 1329722	NM_001291415.2(KDM6A):c.149G>A (p.Gly50Asp)	KDM6A, LOC130068183 (G50D)	Single nucleotide variant (missense variant +2 more)	Kabuki syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 1324613	NM_001291415.2(KDM6A):c.3793C>T (p.Arg1265Ter)	KDM6A (R1134* +5 more)	Single nucleotide variant (nonsense +1 more)	Kabuki syndrome 2	GLikely pathogenic
Select item 1309092	NM_001291415.2(KDM6A):c.225+26G>C	KDM6A, LOC130068184	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289682	NM_001291415.2(KDM6A):c.225+22G>A	KDM6A, LOC130068184	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289006	NM_001291415.2(KDM6A):c.162-34A>T	KDM6A, LOC130068183	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228264	NM_001291415.2(KDM6A):c.225+30A>C	KDM6A, LOC130068184	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1143536	NM_001291415.2(KDM6A):c.225+19G>T	KDM6A, LOC130068184	Single nucleotide variant (intron variant)	Kabuki syndrome 2	GLikely benign
Select item 1064515	NM_001291415.2(KDM6A):c.139G>A (p.Glu47Lys)	KDM6A (E47K)	Single nucleotide variant (missense variant +2 more)	Peripheral precocious puberty	GUncertain significance
Select item 986863	NM_001291415.2(KDM6A):c.1579C>T (p.Gln527Ter)	KDM6A (Q179* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 979183	NM_001291415.2(KDM6A):c.3409G>A (p.Gly1137Arg)	KDM6A (G1006R +5 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2	GLikely pathogenic
Select item 975571	NM_001291415.2(KDM6A):c.2519C>G (p.Ala840Gly)	KDM6A (A492G +5 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2	GLikely pathogenic
Select item 624406	NM_001291415.2(KDM6A):c.322G>A (p.Asp108Asn)	KDM6A (D108N)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 592083	NM_001291415.2(KDM6A):c.3488G>C (p.Arg1163Pro)	KDM6A (R1163P +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 564836	GRCh37/hg19 Xp11.3(chrX:44773319-44909637)x1	KDM6A	Copy number loss	not provided	GPathogenic
Select item 559639	NM_001291415.2(KDM6A):c.1552_1555dup (p.Trp519fs)	KDM6A (W171fs +4 more)	Microsatellite (frameshift variant +1 more)	Kabuki syndrome 2	GPathogenic
Select item 286785	NM_001291415.2(KDM6A):c.151G>T (p.Gly51Ter)	KDM6A, LOC130068183 (G51*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 161745	NM_001291415.2(KDM6A):c.453dup (p.Ala152fs)	KDM6A (A152fs)	Duplication (frameshift variant +2 more)	Malignant tumor of prostate	GUncertain significance
Select item 161744	NM_001291415.2(KDM6A):c.4190del (p.Thr1397fs)	KDM6A (T1049fs +5 more)	Deletion (frameshift variant +1 more)	Malignant tumor of prostate	GUncertain significance
Select item 134600	NM_001291415.2(KDM6A):c.4105A>T (p.Ile1369Phe)	KDM6A (I1369F +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 59