KANSL1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 323730	NM_015443.4(KANSL1):c.*1551del	KANSL1	Deletion (3 prime UTR variant)	Syndromic intellectual disability	GUncertain significance
Select item 2647854	NM_015443.4(KANSL1):c.*1519AAG[1]	KANSL1	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 323731	NM_015443.4(KANSL1):c.*1520dup	KANSL1	Duplication (3 prime UTR variant)	Syndromic intellectual disability	GUncertain significance
Select item 323735	NM_015443.4(KANSL1):c.*1354dup	KANSL1	Duplication (3 prime UTR variant)	Syndromic intellectual disability	GUncertain significance
Select item 323742	NM_015443.4(KANSL1):c.1234_1235dup	KANSL1	Duplication (3 prime UTR variant)	Syndromic intellectual disability	GUncertain significance
Select item 323744	NM_015443.4(KANSL1):c.*1103dup	KANSL1	Duplication (3 prime UTR variant)	Syndromic intellectual disability	GUncertain significance
Select item 323748	NM_015443.4(KANSL1):c.*954C>G	KANSL1	Single nucleotide variant (3 prime UTR variant)	Syndromic intellectual disability +1 more	GConflicting classifications of pathogenicity
Select item 323761	NM_015443.4(KANSL1):c.*28ACTA[1]	KANSL1	Microsatellite (3 prime UTR variant)	Syndromic intellectual disability	GUncertain significance
Select item 584056	NC_000017.11:g.(?_46031456)_(46082562_?)del	KANSL1	Deletion	Koolen-de Vries syndrome	GPathogenic
Select item 583790	NC_000017.10:g.(?_44108822)_(44128090_?)dup	KANSL1	Duplication	Koolen-de Vries syndrome	GUncertain significance
Select item 1257473	NM_015443.4(KANSL1):c.*17T>A	KANSL1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 381968	NM_015443.4(KANSL1):c.*3G>A	KANSL1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 391464	NM_015443.4(KANSL1):c.*2C>T	KANSL1	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 2432955	NM_015443.4(KANSL1):c.3313A>G (p.Arg1105Gly)	KANSL1 (R1026G +11 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 424157	NM_015443.4(KANSL1):c.3312_3313del (p.His1104fs)	KANSL1 (H1103fs +1 more)	Microsatellite (frameshift variant)	not provided +1 more	GUncertain significance
Select item 2157489	NM_015443.4(KANSL1):c.3312C>G (p.His1104Gln)	KANSL1 (H1041Q +11 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome +1 more	GUncertain significance
Select item 377995	NM_015443.4(KANSL1):c.3306G>A (p.Pro1102=)	KANSL1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 3063731	NM_015443.4(KANSL1):c.3305C>A (p.Pro1102Gln)	KANSL1 (P1023Q +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 388823	NM_015443.4(KANSL1):c.3305C>T (p.Pro1102Leu)	KANSL1 (P1102L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 2824783	NM_015443.4(KANSL1):c.3302dup (p.Thr1103fs)	KANSL1 (T1039fs +11 more)	Duplication (frameshift variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 2124197	NM_015443.4(KANSL1):c.3302G>A (p.Arg1101His)	KANSL1 (R1022H +11 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 2710685	NM_015443.4(KANSL1):c.3301C>T (p.Arg1101Cys)	KANSL1 (R1057C +11 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 2198776	NM_015443.4(KANSL1):c.3300G>A (p.Gln1100=)	KANSL1	Single nucleotide variant (synonymous variant)	Koolen-de Vries syndrome	GLikely benign
Select item 205801	NM_015443.4(KANSL1):c.3298C>G (p.Gln1100Glu)	KANSL1 (Q1100E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2529558	NM_015443.4(KANSL1):c.3296C>T (p.Ala1099Val)	KANSL1 (A1064V +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2820998	NM_015443.4(KANSL1):c.3295G>C (p.Ala1099Pro)	KANSL1 (A1036P +11 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 1084310	NM_015443.4(KANSL1):c.3294A>T (p.Thr1098=)	KANSL1	Single nucleotide variant (synonymous variant)	Koolen-de Vries syndrome	GLikely benign
Select item 1525508	NM_015443.4(KANSL1):c.3292A>G (p.Thr1098Ala)	KANSL1 (T1097A +1 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GBenign
Select item 972304	NM_015443.4(KANSL1):c.3289G>C (p.Ala1097Pro)	KANSL1 (A1097P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2080399	NM_015443.4(KANSL1):c.3287C>G (p.Ala1096Gly)	KANSL1 (A1032G +11 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 1714398	NM_015443.4(KANSL1):c.3287C>T (p.Ala1096Val)	KANSL1 (A1017V +11 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 1650209	NM_015443.4(KANSL1):c.3279G>A (p.Leu1093=)	KANSL1	Single nucleotide variant (synonymous variant)	Koolen-de Vries syndrome	GLikely benign
Select item 536309	NM_015443.4(KANSL1):c.3279G>T (p.Leu1093=)	KANSL1	Single nucleotide variant (synonymous variant)	Koolen-de Vries syndrome	GLikely benign
Select item 853987	NM_015443.4(KANSL1):c.3275A>G (p.His1092Arg)	KANSL1 (H1091R +1 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GBenign
Select item 536293	NM_015443.4(KANSL1):c.3272G>A (p.Arg1091Gln)	KANSL1 (R1091Q +1 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 2919558	NM_015443.4(KANSL1):c.3271C>T (p.Arg1091Trp)	KANSL1 (R1047W +11 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 567755	NM_015443.4(KANSL1):c.3266A>G (p.Lys1089Arg)	KANSL1 (K1089R +1 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GLikely benign
Select item 377994	NM_015443.4(KANSL1):c.3264C>T (p.Leu1088=)	KANSL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2786964	NM_015443.4(KANSL1):c.3262C>T (p.Leu1088Phe)	KANSL1 (L1009F +11 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 387239	NM_015443.4(KANSL1):c.3260C>T (p.Pro1087Leu)	KANSL1 (P1087L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2700860	NM_015443.4(KANSL1):c.3259C>G (p.Pro1087Ala)	KANSL1 (P1024A +11 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 2847581	NM_015443.4(KANSL1):c.3258C>A (p.Val1086=)	KANSL1	Single nucleotide variant (synonymous variant)	Koolen-de Vries syndrome	GLikely benign
Select item 1085828	NM_015443.4(KANSL1):c.3258C>T (p.Val1086=)	KANSL1	Single nucleotide variant (synonymous variant)	Koolen-de Vries syndrome	GLikely benign
Select item 1609049	NM_015443.4(KANSL1):c.3246G>A (p.Ser1082=)	KANSL1	Single nucleotide variant (synonymous variant)	Koolen-de Vries syndrome	GLikely benign
Select item 659790	NM_015443.4(KANSL1):c.3245C>T (p.Ser1082Leu)	KANSL1 (S1082L +1 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GBenign
Select item 1354627	NM_015443.4(KANSL1):c.3242C>G (p.Thr1081Ser)	KANSL1 (T1081S +1 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 1441586	NM_015443.4(KANSL1):c.3238C>T (p.Pro1080Ser)	KANSL1 (P1079S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2416399	NM_015443.4(KANSL1):c.3237G>A (p.Ala1079=)	KANSL1	Single nucleotide variant (synonymous variant)	Koolen-de Vries syndrome	GLikely benign
Select item 1612864	NM_015443.4(KANSL1):c.3237G>T (p.Ala1079=)	KANSL1	Single nucleotide variant (synonymous variant)	Koolen-de Vries syndrome	GLikely benign
Select item 388914	NM_015443.4(KANSL1):c.3236C>T (p.Ala1079Val)	KANSL1 (A1079V +1 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1668869	NM_015443.4(KANSL1):c.3235G>A (p.Ala1079Thr)	KANSL1 (A1078T +1 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GLikely benign
Select item 1506575	NM_015443.4(KANSL1):c.3230A>T (p.Glu1077Val)	KANSL1 (E1076V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 515272	NM_015443.4(KANSL1):c.3221G>A (p.Arg1074Gln)	KANSL1 (R1074Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2769000	NM_015443.4(KANSL1):c.3220C>T (p.Arg1074Trp)	KANSL1 (R1011W +11 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 381249	NM_015443.4(KANSL1):c.3215C>T (p.Thr1072Ile)	KANSL1 (T1072I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 514637	NM_015443.4(KANSL1):c.3196C>T (p.Arg1066Cys)	KANSL1 (R1066C +1 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1521526	NM_015443.4(KANSL1):c.3193C>G (p.Arg1065Gly)	KANSL1 (R1065G +1 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 1204543	NM_015443.4(KANSL1):c.3193C>T (p.Arg1065Ter)	KANSL1 (R1064* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 379614	NM_015443.4(KANSL1):c.3185G>A (p.Arg1062His)	KANSL1 (R1062H +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 856640	NM_015443.4(KANSL1):c.3184C>T (p.Arg1062Cys)	KANSL1 (R1061C +1 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 2980669	NM_015443.4(KANSL1):c.3176G>A (p.Arg1059Gln)	KANSL1 (R573Q +11 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 971163	NM_015443.4(KANSL1):c.3175C>G (p.Arg1059Gly)	KANSL1 (R1058G +1 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 2698917	NM_015443.4(KANSL1):c.3172G>T (p.Glu1058Ter)	KANSL1 (E1014* +11 more)	Single nucleotide variant (nonsense)	Koolen-de Vries syndrome	GUncertain significance
Select item 205756	NM_015443.4(KANSL1):c.3170A>G (p.Gln1057Arg)	KANSL1 (Q1057R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2627767	NM_015443.4(KANSL1):c.3169C>G (p.Gln1057Glu)	KANSL1 (Q1013E +11 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 2647855	NM_015443.4(KANSL1):c.3168A>G (p.Ala1056=)	KANSL1	Single nucleotide variant (synonymous variant)	Koolen-de Vries syndrome +1 more	GLikely benign
Select item 1409370	NM_015443.4(KANSL1):c.3167C>T (p.Ala1056Val)	KANSL1 (A1055V +1 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 2130381	NM_015443.4(KANSL1):c.3164A>G (p.Asp1055Gly)	KANSL1 (D1021G +11 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 2034534	NM_015443.4(KANSL1):c.3162G>T (p.Leu1054=)	KANSL1	Single nucleotide variant (synonymous variant)	Koolen-de Vries syndrome	GLikely benign
Select item 390120	NM_015443.4(KANSL1):c.3158A>G (p.Gln1053Arg)	KANSL1 (Q1053R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2131320	NM_015443.4(KANSL1):c.3155A>T (p.Asp1052Val)	KANSL1 (D1018V +11 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 652051	NM_015443.4(KANSL1):c.3154G>A (p.Asp1052Asn)	KANSL1 (D1051N +1 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 2765789	NM_015443.4(KANSL1):c.3151G>A (p.Glu1051Lys)	KANSL1 (E1016K +11 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GBenign
Select item 205755	NM_015443.4(KANSL1):c.3148T>C (p.Cys1050Arg)	KANSL1 (C1050R +1 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1670234	NM_015443.4(KANSL1):c.3146A>T (p.Glu1049Val)	KANSL1 (E1048V +1 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GLikely benign
Select item 205754	NM_015443.4(KANSL1):c.3146A>G (p.Glu1049Gly)	KANSL1 (E1049G +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2418584	NM_015443.4(KANSL1):c.3144G>A (p.Ala1048=)	KANSL1	Single nucleotide variant (synonymous variant)	Koolen-de Vries syndrome	GLikely benign
Select item 1648734	NM_015443.4(KANSL1):c.3144G>C (p.Ala1048=)	KANSL1	Single nucleotide variant (synonymous variant)	Koolen-de Vries syndrome	GLikely benign
Select item 646139	NM_015443.4(KANSL1):c.3143C>T (p.Ala1048Val)	KANSL1 (A1047V +1 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 2697700	NM_015443.4(KANSL1):c.3141G>T (p.Gln1047His)	KANSL1 (Q1012H +11 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 205753	NM_015443.4(KANSL1):c.3141G>C (p.Gln1047His)	KANSL1 (Q1047H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1058220	NM_015443.4(KANSL1):c.3139C>G (p.Gln1047Glu)	KANSL1 (Q1046E +1 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 386436	NM_015443.4(KANSL1):c.3138C>G (p.Pro1046=)	KANSL1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2968979	NM_015443.4(KANSL1):c.3135T>C (p.Ser1045=)	KANSL1	Single nucleotide variant (synonymous variant)	Koolen-de Vries syndrome	GLikely benign
Select item 1098939	NM_015443.4(KANSL1):c.3129G>A (p.Ala1043=)	KANSL1	Single nucleotide variant (synonymous variant)	Koolen-de Vries syndrome	GLikely benign
Select item 665482	NM_015443.4(KANSL1):c.3128C>T (p.Ala1043Val)	KANSL1 (A1043V +1 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 209164	NM_015443.4(KANSL1):c.3125del (p.Leu1042fs)	KANSL1 (L1041fs +1 more)	Deletion (frameshift variant)	Koolen-de Vries syndrome	GLikely pathogenic
Select item 2974158	NM_015443.4(KANSL1):c.3123C>T (p.Pro1041=)	KANSL1	Single nucleotide variant (synonymous variant)	Koolen-de Vries syndrome	GLikely benign
Select item 512496	NM_015443.4(KANSL1):c.3123C>G (p.Pro1041=)	KANSL1	Single nucleotide variant (synonymous variant)	Koolen-de Vries syndrome +1 more	GLikely benign
Select item 468407	NM_015443.4(KANSL1):c.3116C>T (p.Thr1039Ile)	KANSL1 (T1039I +1 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GLikely benign
Select item 833837	NM_015443.4(KANSL1):c.3110G>A (p.Arg1037Gln)	KANSL1 (R1037Q +1 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GLikely benign
Select item 2721287	NM_015443.4(KANSL1):c.3109C>T (p.Arg1037Trp)	KANSL1 (R1037W +11 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GLikely benign
Select item 1496997	NM_015443.4(KANSL1):c.3105G>C (p.Trp1035Cys)	KANSL1 (W1035C +1 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome +1 more	GUncertain significance
Select item 850997	NM_015443.4(KANSL1):c.3094G>C (p.Val1032Leu)	KANSL1 (V1031L +1 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GLikely benign
Select item 392437	NM_015443.4(KANSL1):c.3094G>T (p.Val1032Phe)	KANSL1 (V1032F +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 681522	NM_015443.4(KANSL1):c.3091-5_3091-2dup	KANSL1	Duplication (splice acceptor variant)	not provided	GLikely benign
Select item 536304	NM_015443.4(KANSL1):c.3091-3C>T	KANSL1	Single nucleotide variant (intron variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 1551859	NM_015443.4(KANSL1):c.3091-7C>T	KANSL1	Single nucleotide variant (intron variant)	Koolen-de Vries syndrome	GLikely benign
Select item 699054	NM_015443.4(KANSL1):c.3091-10C>T	KANSL1	Single nucleotide variant (intron variant)	Koolen-de Vries syndrome	GLikely benign
Select item 2722152	NM_015443.4(KANSL1):c.3091-15C>A	KANSL1	Single nucleotide variant (intron variant)	Koolen-de Vries syndrome	GLikely benign

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