C3275495[trait identifier] AND "Labcorp Genetics (formerly Invitae), L - ClinVar - NCBI

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	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)	not provided +3 more	GUncertain significance
Select item 2013511	NM_001291415.2(KDM6A):c.24C>G (p.Leu8=)	KDM6A	Single nucleotide variant (synonymous variant +2 more)	Kabuki syndrome 2	GLikely benign
Select item 1902315	NM_001291415.2(KDM6A):c.28_39del (p.Thr10_Ala13del)	KDM6A	Deletion (inframe_deletion +3 more)	Kabuki syndrome 2	GUncertain significance
Select item 1714270	NM_001291415.2(KDM6A):c.25G>C (p.Ala9Pro)	KDM6A (A9P)	Single nucleotide variant (missense variant +2 more)	Kabuki syndrome 2	GUncertain significance
Select item 1391675	NM_001291415.2(KDM6A):c.28_42dup (p.Thr10_Ala14dup)	KDM6A	Duplication (inframe_insertion +2 more)	Kabuki syndrome 2	GUncertain significance
Select item 1164597	NM_001291415.2(KDM6A):c.40_51dup (p.Ala14_Ala17dup)	KDM6A	Duplication (inframe_insertion +2 more)	Kabuki syndrome 2 +1 more	GBenign/Likely benign
Select item 1601404	NM_001291415.2(KDM6A):c.40_51del (p.Ala14_Ala17del)	KDM6A	Deletion (inframe_deletion +2 more)	Kabuki syndrome 2	GBenign
Select item 2178286	NM_001291415.2(KDM6A):c.39_44dup (p.Ala17_Phe18insAlaAla)	KDM6A	Duplication (inframe_insertion +3 more)	Kabuki syndrome 2	GUncertain significance
Select item 2956860	NM_001291415.2(KDM6A):c.39_41dup (p.Ala17_Phe18insAla)	KDM6A	Duplication (inframe_insertion +2 more)	Kabuki syndrome 2	GUncertain significance
Select item 1212225	NM_001291415.2(KDM6A):c.42CGC[5] (p.Ala16_Ala17dup)	KDM6A	Microsatellite (inframe_insertion +2 more)	not provided +1 more	GLikely benign
Select item 193446	NM_001291415.2(KDM6A):c.42CGC[4] (p.Ala17dup)	KDM6A	Microsatellite (inframe_insertion +2 more)	Kabuki syndrome 2 +2 more	GBenign/Likely benign
Select item 2141977	NM_001291415.2(KDM6A):c.48C>G (p.Ala16=)	KDM6A	Single nucleotide variant (synonymous variant +2 more)	Kabuki syndrome 2	GLikely benign
Select item 1636997	NM_001291415.2(KDM6A):c.48C>T (p.Ala16=)	KDM6A	Single nucleotide variant (synonymous variant +2 more)	Kabuki syndrome 2	GLikely benign
Select item 1409053	NM_001291415.2(KDM6A):c.49G>A (p.Ala17Thr)	KDM6A (A17T)	Single nucleotide variant (missense variant +2 more)	Kabuki syndrome 2	GUncertain significance
Select item 2995767	NM_001291415.2(KDM6A):c.54C>A (p.Phe18Leu)	KDM6A (F18L)	Single nucleotide variant (missense variant +2 more)	Kabuki syndrome 2	GUncertain significance
Select item 2035313	NM_001291415.2(KDM6A):c.57T>C (p.Gly19=)	KDM6A	Single nucleotide variant (synonymous variant +2 more)	Kabuki syndrome 2	GLikely benign
Select item 996891	NM_001291415.2(KDM6A):c.65A>C (p.Glu22Ala)	KDM6A (E22A)	Single nucleotide variant (missense variant +2 more)	Kabuki syndrome 2	GConflicting classifications of pathogenicity
Select item 2151832	NM_001291415.2(KDM6A):c.69G>T (p.Lys23Asn)	KDM6A (K23N)	Single nucleotide variant (missense variant +2 more)	Kabuki syndrome 2	GUncertain significance
Select item 134594	NM_001291415.2(KDM6A):c.88G>A (p.Ala30Thr)	KDM6A (A30T)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GBenign
Select item 1718165	NM_001291415.2(KDM6A):c.101_102delinsTT (p.Ser34Ile)	KDM6A (S34I)	Indel (missense variant +2 more)	Kabuki syndrome 2	GUncertain significance
Select item 2791808	NM_001291415.2(KDM6A):c.117C>T (p.Pro39=)	KDM6A	Single nucleotide variant (synonymous variant +2 more)	Kabuki syndrome 2	GLikely benign
Select item 2003394	NM_001291415.2(KDM6A):c.137G>A (p.Arg46Lys)	KDM6A (R46K)	Single nucleotide variant (missense variant +2 more)	Kabuki syndrome 2	GUncertain significance
Select item 2414042	NM_001291415.2(KDM6A):c.141G>A (p.Glu47=)	KDM6A	Single nucleotide variant (synonymous variant +2 more)	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 1329722	NM_001291415.2(KDM6A):c.149G>A (p.Gly50Asp)	KDM6A, LOC130068183 (G50D)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2790504	NM_001291415.2(KDM6A):c.150C>T (p.Gly50=)	LOC130068183, KDM6A	Single nucleotide variant (synonymous variant +2 more)	Kabuki syndrome 2	GLikely 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 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 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 2913027	NM_001291415.2(KDM6A):c.156G>A (p.Leu52=)	KDM6A, LOC130068183	Single nucleotide variant (synonymous variant +2 more)	Kabuki syndrome 2	GBenign
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 2989778	NM_001291415.2(KDM6A):c.161+17C>T	KDM6A, LOC130068183	Single nucleotide variant (intron variant)	Kabuki syndrome 2	GLikely benign
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 1914896	NM_001291415.2(KDM6A):c.162-17T>C	KDM6A, LOC130068183	Single nucleotide variant (intron variant)	Kabuki syndrome 2	GLikely benign
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 2740693	NM_001291415.2(KDM6A):c.162-12C>G	KDM6A, LOC130068183	Single nucleotide variant (intron variant)	Kabuki syndrome 2	GLikely benign
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 1551152	NM_001291415.2(KDM6A):c.162-5C>T	KDM6A, LOC130068183	Single nucleotide variant (intron variant)	Kabuki syndrome 2	GLikely benign
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 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 2869010	NM_001291415.2(KDM6A):c.196G>A (p.Gly66Ser)	KDM6A (G66S)	Single nucleotide variant (missense variant +2 more)	Kabuki syndrome 2	GLikely benign
Select item 2802091	NM_001291415.2(KDM6A):c.200C>T (p.Ala67Val)	KDM6A (A67V)	Single nucleotide variant (missense variant +2 more)	Kabuki syndrome 2	GUncertain significance
Select item 1164653	NM_001291415.2(KDM6A):c.201C>T (p.Ala67=)	KDM6A	Single nucleotide variant (synonymous variant +2 more)	Kabuki syndrome 2	GBenign
Select item 1309770	NM_001291415.2(KDM6A):c.203G>C (p.Arg68Thr)	KDM6A (R68T)	Single nucleotide variant (missense variant +2 more)	Kabuki syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 1187806	NM_001291415.2(KDM6A):c.222C>G (p.Gly74=)	KDM6A	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 1471961	NM_001291415.2(KDM6A):c.225+1G>A	KDM6A	Single nucleotide variant (splice donor variant)	Kabuki syndrome 2	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 1943225	NM_001291415.2(KDM6A):c.225+16G>C	KDM6A, LOC130068184	Single nucleotide variant (intron variant)	Kabuki syndrome 2	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 2179149	NM_001291415.2(KDM6A):c.226-19T>C	KDM6A	Single nucleotide variant (intron variant)	Kabuki syndrome 2	GBenign
Select item 2903738	NM_001291415.2(KDM6A):c.226-8A>G	KDM6A	Single nucleotide variant (intron variant)	Kabuki syndrome 2	GLikely benign
Select item 2161135	NM_001291415.2(KDM6A):c.226-4C>A	KDM6A	Single nucleotide variant (intron variant)	Kabuki syndrome 2	GBenign
Select item 2151273	NM_001291415.2(KDM6A):c.232C>T (p.Arg78Cys)	KDM6A (R78C)	Single nucleotide variant (missense variant +2 more)	Kabuki syndrome 2	GLikely benign
Select item 488374	NM_001291415.2(KDM6A):c.250A>G (p.Ile84Val)	KDM6A (I84V)	Single nucleotide variant (missense variant +2 more)	Kabuki syndrome 2	GUncertain significance
Select item 2695332	NM_001291415.2(KDM6A):c.261T>C (p.Ala87=)	KDM6A	Single nucleotide variant (synonymous variant +2 more)	Kabuki syndrome 2	GLikely benign
Select item 1956780	NM_001291415.2(KDM6A):c.261T>G (p.Ala87=)	KDM6A	Single nucleotide variant (synonymous variant +2 more)	Kabuki syndrome 2	GLikely benign
Select item 1429905	NM_001291415.2(KDM6A):c.294A>G (p.Gln98=)	KDM6A	Single nucleotide variant (synonymous variant +2 more)	Kabuki syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 2188099	NM_001291415.2(KDM6A):c.308A>G (p.Asn103Ser)	KDM6A (N103S)	Single nucleotide variant (missense variant +2 more)	Kabuki syndrome 2	GUncertain significance
Select item 1956163	NM_001291415.2(KDM6A):c.318G>A (p.Leu106=)	KDM6A	Single nucleotide variant (synonymous variant +2 more)	Kabuki syndrome 2	GLikely benign
Select item 1983013	NM_001291415.2(KDM6A):c.330A>G (p.Pro110=)	KDM6A	Single nucleotide variant (synonymous variant +2 more)	Kabuki syndrome 2	GLikely benign
Select item 2703832	NM_001291415.2(KDM6A):c.334+1G>A	KDM6A	Single nucleotide variant (splice donor variant)	Kabuki syndrome 2	GLikely pathogenic
Select item 2889495	NM_001291415.2(KDM6A):c.334+11del	KDM6A	Deletion (intron variant)	Kabuki syndrome 2	GBenign
Select item 1597783	NM_001291415.2(KDM6A):c.335-20C>T	KDM6A	Single nucleotide variant (intron variant)	Kabuki syndrome 2	GLikely benign
Select item 2118825	NM_001291415.2(KDM6A):c.335-13A>G	KDM6A	Single nucleotide variant (intron variant)	Kabuki syndrome 2	GLikely benign
Select item 1018937	NM_001291415.2(KDM6A):c.341C>T (p.Ser114Phe)	KDM6A (S114F)	Single nucleotide variant (missense variant +2 more)	Kabuki syndrome 2	GUncertain significance
Select item 1977256	NM_001291415.2(KDM6A):c.348C>T (p.Tyr116=)	KDM6A	Single nucleotide variant (synonymous variant +2 more)	Kabuki syndrome 2	GLikely benign
Select item 1071788	NM_001291415.2(KDM6A):c.348C>A (p.Tyr116Ter)	KDM6A (Y116*)	Single nucleotide variant (nonsense +2 more)	Kabuki syndrome 2	GPathogenic
Select item 2133290	NM_001291415.2(KDM6A):c.349C>T (p.Gln117Ter)	KDM6A (Q117*)	Single nucleotide variant (nonsense +2 more)	Kabuki syndrome 2	GPathogenic
Select item 3015719	NM_001291415.2(KDM6A):c.359A>G (p.Tyr120Cys)	KDM6A (Y120C)	Single nucleotide variant (missense variant +2 more)	Kabuki syndrome 2	GUncertain significance
Select item 1627769	NM_001291415.2(KDM6A):c.378C>T (p.Tyr126=)	KDM6A	Single nucleotide variant (synonymous variant +2 more)	Kabuki syndrome 2	GLikely benign
Select item 1620868	NM_001291415.2(KDM6A):c.384+7G>A	KDM6A	Single nucleotide variant (intron variant)	Kabuki syndrome 2	GLikely benign
Select item 197330	NM_001291415.2(KDM6A):c.384+10C>T	KDM6A	Single nucleotide variant (intron variant)	Kabuki syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 2503818	NM_001291415.2(KDM6A):c.384+13T>A	KDM6A	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1645336	NM_001291415.2(KDM6A):c.385-20C>T	KDM6A	Single nucleotide variant (intron variant)	Kabuki syndrome 2	GLikely benign
Select item 1605208	NM_001291415.2(KDM6A):c.385-12C>T	KDM6A	Single nucleotide variant (intron variant)	Kabuki syndrome 2	GLikely benign
Select item 753664	NM_001291415.2(KDM6A):c.388G>A (p.Ala130Thr)	KDM6A (A130T)	Single nucleotide variant (missense variant +2 more)	Kabuki syndrome 2 +1 more	GLikely benign
Select item 2582128	NM_001291415.2(KDM6A):c.406C>T (p.Leu136Phe)	KDM6A (L136F)	Single nucleotide variant (missense variant +2 more)	Kabuki syndrome 2 +1 more	GUncertain significance
Select item 2012018	NM_001291415.2(KDM6A):c.415G>A (p.Val139Ile)	KDM6A (V139I)	Single nucleotide variant (missense variant +2 more)	Kabuki syndrome 2	GUncertain significance
Select item 2733806	NM_001291415.2(KDM6A):c.429T>C (p.Tyr143=)	KDM6A	Single nucleotide variant (synonymous variant +2 more)	Kabuki syndrome 2	GLikely benign
Select item 2804722	NM_001291415.2(KDM6A):c.443+8G>A	KDM6A	Single nucleotide variant (intron variant)	Kabuki syndrome 2	GLikely benign
Select item 2144718	NM_001291415.2(KDM6A):c.443+11A>G	KDM6A	Single nucleotide variant (intron variant)	Kabuki syndrome 2	GLikely benign
Select item 1632711	NM_001291415.2(KDM6A):c.443+17C>T	KDM6A	Single nucleotide variant (intron variant)	Kabuki syndrome 2 +1 more	GLikely benign
Select item 724704	NM_001291415.2(KDM6A):c.444-7C>T	KDM6A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2097180	NM_001291415.2(KDM6A):c.444G>A (p.Trp148Ter)	KDM6A (W148*)	Single nucleotide variant (nonsense +2 more)	Kabuki syndrome 2	GPathogenic
Select item 692010	NM_001291415.2(KDM6A):c.493C>T (p.Arg165Ter)	KDM6A (R165*)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic
Select item 1698508	NM_001291415.2(KDM6A):c.533A>G (p.Lys178Arg)	KDM6A (K178R)	Single nucleotide variant (missense variant +2 more)	Kabuki syndrome 2 +1 more	GUncertain significance
Select item 2839789	NM_001291415.2(KDM6A):c.548A>G (p.Tyr183Cys)	KDM6A (Y183C)	Single nucleotide variant (missense variant +2 more)	Kabuki syndrome 2	GUncertain significance
Select item 2765651	NM_001291415.2(KDM6A):c.561A>G (p.Leu187=)	KDM6A	Single nucleotide variant (synonymous variant +2 more)	Kabuki syndrome 2	GLikely benign
Select item 2738265	NM_001291415.2(KDM6A):c.564+13G>T	KDM6A	Single nucleotide variant (intron variant)	Kabuki syndrome 2	GLikely benign
Select item 2083729	NM_001291415.2(KDM6A):c.564+15T>C	KDM6A	Single nucleotide variant (intron variant)	Kabuki syndrome 2	GLikely benign
Select item 1999569	NM_001291415.2(KDM6A):c.564+16T>C	KDM6A	Single nucleotide variant (intron variant)	Kabuki syndrome 2	GLikely benign
Select item 2036185	NM_001291415.2(KDM6A):c.565-12C>G	KDM6A	Single nucleotide variant (intron variant)	Kabuki syndrome 2	GLikely benign
Select item 2891858	NM_001291415.2(KDM6A):c.565-10C>T	KDM6A	Single nucleotide variant (intron variant)	Kabuki syndrome 2	GLikely benign
Select item 1628247	NM_001291415.2(KDM6A):c.565-9G>A	KDM6A	Single nucleotide variant (intron variant)	Kabuki syndrome 2	GLikely benign
Select item 1071579	NM_001291415.2(KDM6A):c.565-1G>A	KDM6A	Single nucleotide variant (splice acceptor variant)	Kabuki syndrome 2	GPathogenic
Select item 2078061	NM_001291415.2(KDM6A):c.583G>A (p.Val195Ile)	KDM6A (V195I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2419186	NM_001291415.2(KDM6A):c.593A>G (p.Asn198Ser)	KDM6A (N198S)	Single nucleotide variant (missense variant +2 more)	Kabuki syndrome 2	GUncertain significance
Select item 2188439	NM_001291415.2(KDM6A):c.605T>C (p.Leu202Ser)	KDM6A (L202S)	Single nucleotide variant (missense variant +2 more)	Kabuki syndrome 2	GUncertain significance
Select item 2017797	NM_001291415.2(KDM6A):c.609C>T (p.Ser203=)	KDM6A	Single nucleotide variant (synonymous variant +2 more)	Kabuki syndrome 2	GBenign

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