"PreventionGenetics, part of Exact Sciences"[submitter] AND "KDM6A"[ge - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1383579	NM_001291415.2(KDM6A):c.28_39dup (p.Thr10_Ala13dup)	KDM6A	Duplication (inframe_insertion +2 more)	KDM6A-related disorder +2 more	GUncertain significance
Select item 3029130	NM_001291415.2(KDM6A):c.36C>G (p.Ala12=)	KDM6A	Single nucleotide variant (synonymous variant +2 more)	KDM6A-related disorder	GLikely benign
Select item 2631859	NM_001291415.2(KDM6A):c.47C>G (p.Ala16Gly)	KDM6A (A16G)	Single nucleotide variant (missense variant +2 more)	KDM6A-related disorder	GUncertain significance
Select item 134594	NM_001291415.2(KDM6A):c.88G>A (p.Ala30Thr)	KDM6A (A30T)	Single nucleotide variant (missense variant +2 more)	KDM6A-related disorder +3 more	GBenign
Select item 2630964	NM_001291415.2(KDM6A):c.113C>A (p.Ser38Tyr)	KDM6A (S38Y)	Single nucleotide variant (missense variant +2 more)	KDM6A-related disorder	GUncertain significance
Select item 2913027	NM_001291415.2(KDM6A):c.156G>A (p.Leu52=)	KDM6A, LOC130068183	Single nucleotide variant (synonymous variant +2 more)	KDM6A-related disorder +1 more	GBenign/Likely benign
Select item 2630634	NM_001291415.2(KDM6A):c.224A>C (p.Lys75Thr)	KDM6A (K75T)	Single nucleotide variant (missense variant +2 more)	KDM6A-related disorder	GUncertain significance
Select item 2634714	NM_001291415.2(KDM6A):c.277T>A (p.Ser93Thr)	KDM6A (S93T)	Single nucleotide variant (missense variant +2 more)	KDM6A-related disorder	GUncertain significance
Select item 2630163	NM_001291415.2(KDM6A):c.371C>G (p.Ser124Cys)	KDM6A (S124C)	Single nucleotide variant (missense variant +2 more)	KDM6A-related disorder	GUncertain significance
Select item 261407	NM_001291415.2(KDM6A):c.624A>G (p.Gln208=)	KDM6A	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GBenign/Likely benign
Select item 2633295	NM_001291415.2(KDM6A):c.766G>A (p.Val256Ile)	KDM6A (V256I +1 more)	Single nucleotide variant (missense variant +1 more)	KDM6A-related disorder	GUncertain significance
Select item 2899801	NM_001291415.2(KDM6A):c.799A>G (p.Ser267Gly)	KDM6A (S16G +1 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2 +2 more	GBenign/Likely benign
Select item 1603317	NM_001291415.2(KDM6A):c.870C>T (p.Leu290=)	KDM6A	Single nucleotide variant (synonymous variant +1 more)	Kabuki syndrome 2 +1 more	GLikely benign
Select item 2630425	NM_001291415.2(KDM6A):c.1003A>G (p.Met335Val)	KDM6A (M335V +1 more)	Single nucleotide variant (missense variant +1 more)	KDM6A-related disorder	GUncertain significance
Select item 3061630	NM_001291415.2(KDM6A):c.1039T>C (p.Leu347=)	KDM6A	Single nucleotide variant (synonymous variant +1 more)	KDM6A-related disorder	GLikely benign
Select item 2633605	NM_001291415.2(KDM6A):c.1083_1084del (p.Leu361_Tyr362insTer)	KDM6A	Microsatellite (frameshift variant +1 more)	KDM6A-related disorder	GPathogenic
Select item 2061332	NM_001291415.2(KDM6A):c.1194+6A>G	KDM6A	Single nucleotide variant (intron variant)	KDM6A-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1032117	NM_001291415.2(KDM6A):c.1219G>A (p.Gly407Ser)	KDM6A (G407S)	Single nucleotide variant (missense variant +1 more)	KDM6A-related disorder +1 more	GUncertain significance
Select item 3032826	NM_001291415.2(KDM6A):c.1384C>T (p.Pro462Ser)	KDM6A (P417S +1 more)	Single nucleotide variant (missense variant +2 more)	KDM6A-related disorder	GLikely benign
Select item 1380104	NM_001291415.2(KDM6A):c.1487A>G (p.Asn496Ser)	KDM6A (N148S +4 more)	Single nucleotide variant (missense variant +1 more)	KDM6A-related disorder +1 more	GUncertain significance
Select item 702624	NM_001291415.2(KDM6A):c.1558T>C (p.Cys520Arg)	KDM6A (C520R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 3054309	NM_001291415.2(KDM6A):c.1581+7A>G	KDM6A	Single nucleotide variant (intron variant)	KDM6A-related disorder	GLikely benign
Select item 261406	NM_001291415.2(KDM6A):c.1683+3G>A	KDM6A	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 2628448	NM_001291415.2(KDM6A):c.1766C>T (p.Ser589Leu)	KDM6A (S241L +7 more)	Single nucleotide variant (missense variant +1 more)	KDM6A-related disorder	GUncertain significance
Select item 766461	NM_001291415.2(KDM6A):c.1812C>T (p.Ser604=)	KDM6A	Single nucleotide variant (synonymous variant +1 more)	Kabuki syndrome 2 +2 more	GBenign/Likely benign
Select item 767596	NM_001291415.2(KDM6A):c.1832G>A (p.Arg611His)	KDM6A (R263H +5 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2 +1 more	GLikely benign
Select item 261405	NM_001291415.2(KDM6A):c.1897A>G (p.Thr633Ala)	KDM6A (T581A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 284402	NM_001291415.2(KDM6A):c.1907C>T (p.Thr636Met)	KDM6A (T636M +5 more)	Single nucleotide variant (missense variant +1 more)	KDM6A-related disorder +4 more	GBenign/Likely benign
Select item 2629152	NM_001291415.2(KDM6A):c.1967A>G (p.Asn656Ser)	KDM6A (N308S +7 more)	Single nucleotide variant (missense variant +1 more)	KDM6A-related disorder	GUncertain significance
Select item 2635547	NM_001291415.2(KDM6A):c.1969G>T (p.Gly657Ter)	KDM6A (G309* +7 more)	Single nucleotide variant (nonsense +1 more)	KDM6A-related disorder	GLikely pathogenic
Select item 134596	NM_001291415.2(KDM6A):c.1999C>G (p.Leu667Val)	KDM6A (L667V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
Select item 2630767	NM_001291415.2(KDM6A):c.2005C>G (p.Leu669Val)	KDM6A (L321V +7 more)	Single nucleotide variant (missense variant +1 more)	KDM6A-related disorder	GUncertain significance
Select item 284610	NM_001291415.2(KDM6A):c.2212C>T (p.Pro738Ser)	KDM6A (P686S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1286107	NM_001291415.2(KDM6A):c.2329T>C (p.Leu777=)	KDM6A	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 134597	NM_001291415.2(KDM6A):c.2333C>A (p.Thr778Lys)	KDM6A (T778K +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 2635495	NM_001291415.2(KDM6A):c.2767C>T (p.Leu923Phe)	KDM6A (L575F +7 more)	Single nucleotide variant (missense variant +1 more)	KDM6A-related disorder	GUncertain significance
Select item 2635983	NM_001291415.2(KDM6A):c.2780A>G (p.His927Arg)	KDM6A (H579R +7 more)	Single nucleotide variant (missense variant +1 more)	KDM6A-related disorder	GUncertain significance
Select item 2632800	NM_001291415.2(KDM6A):c.2851G>T (p.Ala951Ser)	KDM6A (A603S +7 more)	Single nucleotide variant (missense variant +1 more)	KDM6A-related disorder	GUncertain significance
Select item 1572337	NM_001291415.2(KDM6A):c.2859-3dup	KDM6A	Duplication (intron variant)	KDM6A-related disorder +1 more	GLikely benign
Select item 707498	NM_001291415.2(KDM6A):c.2859-5T>C	KDM6A	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 134598	NM_001291415.2(KDM6A):c.2888G>C (p.Ser963Thr)	KDM6A (S963T +5 more)	Single nucleotide variant (missense variant +1 more)	KDM6A-related disorder +1 more	GBenign/Likely benign
Select item 772602	NM_001291415.2(KDM6A):c.2970A>G (p.Pro990=)	KDM6A	Single nucleotide variant (synonymous variant +1 more)	Kabuki syndrome 2 +1 more	GLikely benign
Select item 1620807	NM_001291415.2(KDM6A):c.3045G>A (p.Pro1015=)	KDM6A	Single nucleotide variant (synonymous variant +1 more)	Kabuki syndrome 2 +1 more	GLikely benign
Select item 2634401	NM_001291415.2(KDM6A):c.3115A>C (p.Lys1039Gln)	KDM6A (K1005Q +7 more)	Single nucleotide variant (missense variant +1 more)	KDM6A-related disorder +1 more	GUncertain significance
Select item 158689	NM_001291415.2(KDM6A):c.3267G>A (p.Gln1089=)	KDM6A	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 1977020	NM_001291415.2(KDM6A):c.3434A>C (p.Asp1145Ala)	KDM6A (D1048A +6 more)	Single nucleotide variant (missense variant +1 more)	KDM6A-related disorder +1 more	GLikely benign
Select item 3061407	NM_001291415.2(KDM6A):c.3705-9T>G	KDM6A	Single nucleotide variant (intron variant)	KDM6A-related disorder	GLikely benign
Select item 195903	NM_001291415.2(KDM6A):c.3834T>C (p.His1278=)	KDM6A	Single nucleotide variant (synonymous variant +1 more)	Kabuki syndrome 2 +3 more	GBenign
Select item 471949	NM_001291415.2(KDM6A):c.3870T>C (p.Ala1290=)	KDM6A	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 3036614	NM_001291415.2(KDM6A):c.3893-7_3893-6dup	KDM6A	Duplication (intron variant)	KDM6A-related disorder	GLikely benign
Select item 975570	NM_001291415.2(KDM6A):c.4135C>G (p.Pro1379Ala)	KDM6A (P1031A +5 more)	Single nucleotide variant (missense variant +1 more)	KDM6A-related disorder +2 more	GBenign/Likely benign
Select item 158690	NM_001291415.2(KDM6A):c.4161+14T>C	KDM6A	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 778791	NM_001291415.2(KDM6A):c.4254C>T (p.Ser1418=)	KDM6A	Single nucleotide variant (synonymous variant +1 more)	Kabuki syndrome 2 +1 more	GLikely benign

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Items: 53