ClinVar for Gene (Select 55683) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3287364	NM_001115016.3(KANSL3):c.2065G>T (p.Val689Leu)	KANSL3 (V713L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287363	NM_001115016.3(KANSL3):c.859C>A (p.Pro287Thr)	KANSL3 (P200T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287362	NM_001115016.3(KANSL3):c.1873A>G (p.Ile625Val)	KANSL3 (I423V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287361	NM_001115016.3(KANSL3):c.1082G>A (p.Cys361Tyr)	KANSL3 (C155Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287360	NM_001115016.3(KANSL3):c.1496G>A (p.Arg499His)	KANSL3, LOC126806274 (R271H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3252058	NM_001115016.3(KANSL3):c.795A>G (p.Pro265=)	KANSL3	Single nucleotide variant (synonymous variant +1 more)	Neurodevelopmental disorder	GUncertain significance
Select item 3252057	NM_001115016.3(KANSL3):c.1409G>T (p.Gly470Val)	KANSL3, LOC126806274 (G242V +3 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GUncertain significance
Select item 3242291	GRCh37/hg19 2q11.1-11.2(chr2:96555654-98024790)x1	ADRA2B, ANKRD23 +21 more	Copy number loss	not provided	GUncertain significance
Select item 3112683	NM_001115016.3(KANSL3):c.1924G>A (p.Ala642Thr)	KANSL3 (A457T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112682	NM_001115016.3(KANSL3):c.1780G>A (p.Glu594Lys)	KANSL3 (E533K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112681	NM_001115016.3(KANSL3):c.169A>G (p.Thr57Ala)	KANSL3 (T57A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3112680	NM_001115016.3(KANSL3):c.1628C>T (p.Thr543Ile)	KANSL3, LOC126806274 (T315I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112679	NM_001115016.3(KANSL3):c.1549G>C (p.Ala517Pro)	KANSL3, LOC126806274 (A430P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112678	NM_001115016.3(KANSL3):c.143A>G (p.His48Arg)	KANSL3 (H48R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3112677	NM_001115016.3(KANSL3):c.1053T>G (p.Ile351Met)	KANSL3 (I145M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112676	NM_001115016.3(KANSL3):c.1052T>C (p.Ile351Thr)	KANSL3 (I123T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112675	NM_001115016.3(KANSL3):c.1036A>C (p.Lys346Gln)	KANSL3 (K259Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062623	GRCh37/hg19 2q11.1-11.2(chr2:96735977-98212850)x3	ADRA2B, ANKRD23 +20 more	Copy number gain	not specified	GUncertain significance
Select item 3024612	GRCh37/hg19 2q11.1-11.2(chr2:96780545-98098961)x1	ADRA2B, ANKRD23 +19 more	Copy number loss	not provided	GPathogenic
Select item 2685859	GRCh37/hg19 2q11.1-11.2(chr2:96732520-99142320)x3	ACTR1B, ADRA2B +27 more	Copy number gain	not provided	GUncertain significance
Select item 2685858	GRCh37/hg19 2q11.1-11.2(chr2:96732520-97671333)x3	ADRA2B, ANKRD23 +17 more	Copy number gain	not provided	GUncertain significance
Select item 2685857	GRCh37/hg19 2q11.1-11.2(chr2:95773428-102550061)x3	ACTR1B, ADRA2B +64 more	Copy number gain	not provided	GLikely pathogenic
Select item 2671593	Single allele	ADRA2B, ANKRD23 +20 more	Deletion	not provided	GUncertain significance
Select item 2651146	NM_001115016.3(KANSL3):c.2128T>G (p.Ser710Ala)	KANSL3 (S508A +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2612035	NM_001115016.3(KANSL3):c.847A>T (p.Ser283Cys)	KANSL3 (S283C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557540	NM_001115016.3(KANSL3):c.1909C>G (p.Pro637Ala)	KANSL3 (P435A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557259	NM_001115016.3(KANSL3):c.400A>G (p.Met134Val)	KANSL3 (M134V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2555837	NM_001115016.3(KANSL3):c.1782G>T (p.Glu594Asp)	KANSL3 (E392D +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2552457	NM_001115016.3(KANSL3):c.1811A>G (p.His604Arg)	KANSL3 (H402R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547516	NM_001115016.3(KANSL3):c.1298G>T (p.Gly433Val)	KANSL3 (G205V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546923	NM_001115016.3(KANSL3):c.1195C>G (p.Pro399Ala)	KANSL3 (P399A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546271	NM_001115016.3(KANSL3):c.1420C>T (p.Arg474Cys)	KANSL3, LOC126806274 (R246C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544824	NM_001115016.3(KANSL3):c.2294G>A (p.Ser765Asn)	KANSL3 (S563N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540055	NM_001115016.3(KANSL3):c.1394T>C (p.Val465Ala)	KANSL3, LOC126806274 (V259A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524057	NM_001115016.3(KANSL3):c.2114G>A (p.Arg705His)	KANSL3 (R503H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512886	NM_001115016.3(KANSL3):c.986T>C (p.Ile329Thr)	KANSL3 (I101T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511491	NM_001115016.3(KANSL3):c.2618G>A (p.Arg873His)	KANSL3 (R812H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489807	NM_001115016.3(KANSL3):c.1495C>T (p.Arg499Cys)	KANSL3, LOC126806274 (R293C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481578	NM_001115016.3(KANSL3):c.2539A>T (p.Thr847Ser)	KANSL3 (T786S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480989	NM_001115016.3(KANSL3):c.2216C>T (p.Thr739Ile)	KANSL3 (T537I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463789	NM_001115016.3(KANSL3):c.251C>T (p.Thr84Ile)	KANSL3 (T84I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2400952	NM_001115016.3(KANSL3):c.262A>G (p.Met88Val)	KANSL3 (M88V +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
Select item 2394397	NM_001115016.3(KANSL3):c.2570C>T (p.Ala857Val)	KANSL3 (A881V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391028	NM_001115016.3(KANSL3):c.1718T>C (p.Val573Ala)	KANSL3, LOC126806274 (V345A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383036	NM_001115016.3(KANSL3):c.2374A>G (p.Thr792Ala)	KANSL3 (T731A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379487	NM_001115016.3(KANSL3):c.1838A>C (p.Lys613Thr)	KANSL3 (K411T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354224	NM_001115016.3(KANSL3):c.1238C>A (p.Pro413His)	KANSL3 (P185H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351115	NM_001115016.3(KANSL3):c.1483C>T (p.Arg495Cys)	KANSL3, LOC126806274 (R267C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340379	NM_001115016.3(KANSL3):c.1850G>T (p.Arg617Leu)	KANSL3 (R415L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324602	NM_001115016.3(KANSL3):c.2123C>T (p.Ala708Val)	KANSL3 (A506V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320670	NM_001115016.3(KANSL3):c.2030C>T (p.Ser677Phe)	KANSL3 (S492F +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312056	NM_001115016.3(KANSL3):c.13G>C (p.Gly5Arg)	KANSL3 (G5R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2311111	NM_001115016.3(KANSL3):c.713G>C (p.Gly238Ala)	KANSL3 (G151A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306480	NM_001115016.3(KANSL3):c.422A>T (p.Asn141Ile)	KANSL3 (N141I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2281199	NM_001115016.3(KANSL3):c.226G>T (p.Val76Phe)	KANSL3 (V76F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2262443	NM_001115016.3(KANSL3):c.1982G>T (p.Gly661Val)	KANSL3 (G476V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242995	NM_001115016.3(KANSL3):c.1386T>G (p.Asp462Glu)	KANSL3, LOC126806274 (D234E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205991	NM_001115016.3(KANSL3):c.413A>G (p.Lys138Arg)	KANSL3 (K51R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1808615	GRCh37/hg19 2q11.1-11.2(chr2:95341388-100340514)x3	ACTR1B, ADRA2B +54 more	Copy number gain	not provided	GLikely pathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1443631	NC_000002.11:g.(?_96780545)_(97475254_?)dup	ADRA2B, ARID5A +12 more	Duplication	not provided	GUncertain significance
Select item 1340229	GRCh37/hg19 2q11.1-11.2(chr2:96544603-98025634)x3	ADRA2B, ANKRD23 +21 more	Copy number gain	not provided	GUncertain significance
Select item 1047904	GRCh37/hg19 2q11.1-11.2(chr2:96755045-98021592)	CIAO1, CNNM3 +19 more	Copy number loss	Cleft lip +1 more	GPathogenic
Select item 997821	Single allele	ANKRD36B, ANKRD39 +20 more	Deletion	Intellectual disability	GPathogenic
Select item 980467	GRCh37/hg19 2q11.1-11.2(chr2:96544602-97706860)x3	ADRA2B, ANKRD23 +19 more	Copy number gain	not provided	GUncertain significance
Select item 980466	GRCh37/hg19 2q11.1-11.2(chr2:96421161-97765561)x1	ASTL, CIAO1 +20 more	Copy number loss	not provided	GUncertain significance
Select item 980465	GRCh37/hg19 2q11.1-11.2(chr2:96515883-98162176)x3	ARID5A, ASTL +22 more	Copy number gain	not provided	GUncertain significance
Select item 929377	GRCh37/hg19 2q11.1-11.2(chr2:96737083-98193473)x3	CIAO1, CNNM3 +20 more	Copy number gain	See cases	GUncertain significance
Select item 929311	GRCh37/hg19 2q11.1-11.2(chr2:96737083-98261802)x1	CNNM3, CNNM4 +20 more	Copy number loss	See cases	GLikely pathogenic
Select item 831314	NC_000002.12:g.(?_96537365)_(97009221_?)dup	CNNM3, FAM178B +8 more	Duplication	not provided	GUncertain significance
Select item 814284	GRCh37/hg19 2q11.1-11.2(chr2:96732519-98118115)x3	ADRA2B, ANKRD23 +19 more	Copy number gain	not provided	GUncertain significance
Select item 814283	GRCh37/hg19 2q11.1-11.2(chr2:96712139-98254657)x1	ADRA2B, ANKRD23 +20 more	Copy number loss	not provided	GLikely pathogenic
Select item 687873	GRCh37/hg19 2q11.1-11.2(chr2:96552903-98118115)x1	ADRA2B, ANKRD23 +21 more	Copy number loss	not provided	GPathogenic
Select item 685047	GRCh37/hg19 2q11.1-11.2(chr2:96515883-98025634)x3	ASTL, CIAO1 +21 more	Copy number gain	not provided	GUncertain significance
Select item 638119	GRCh37/hg19 2q11.1-11.2(chr2:96747466-98193473)x1	ADRA2B, ANKRD23 +20 more	Copy number loss	See cases	GLikely pathogenic
Select item 562679	GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3	C2orf15, C2orf49 +122 more	Copy number gain	not provided	GPathogenic
Select item 562643	GRCh37/hg19 2q11.1-11.2(chr2:96544602-98138405)x1	ADRA2B, ANKRD23 +22 more	Copy number loss	not provided	GUncertain significance
Select item 562641	GRCh37/hg19 2q11.1-11.2(chr2:96735977-98258828)x1	ADRA2B, ANKRD23 +20 more	Copy number loss	not provided	GLikely pathogenic
Select item 545284	NC_000002.12:g.(?_96063558)_(97079140_?)del	ADRA2B, ANKRD23 +115 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 443435	GRCh37/hg19 2q11.1-11.2(chr2:96468158-97871906)x3	ADRA2B, ANKRD23 +21 more	Copy number gain	See cases	GLikely pathogenic
Select item 443415	GRCh37/hg19 2q11.1-12.2(chr2:95518497-107186127)	ACTR1B, ADRA2B +86 more	Copy number gain	See cases	GUncertain significance
Select item 443169	GRCh37/hg19 2q11.1-11.2(chr2:96712139-98249638)x1	ADRA2B, ANKRD23 +20 more	Copy number loss	See cases	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442814	GRCh37/hg19 2q11.1-11.2(chr2:96732519-98225552)x3	ADRA2B, ANKRD23 +20 more	Copy number gain	See cases	GLikely benign
Select item 441953	GRCh37/hg19 2q11.1-11.2(chr2:96097383-97679933)x1	ADRA2B, ANKRD23 +21 more	Copy number loss	See cases	GUncertain significance
Select item 395690	GRCh37/hg19 2q11.1-12.3(chr2:95529039-108518266)	ACTR1B, ADRA2B +88 more	Copy number gain	See cases	GPathogenic
Select item 395658	GRCh37/hg19 2q11.1-11.2(chr2:96778661-97757978)x3	ADRA2B, ANKRD23 +18 more	Copy number gain	See cases	GUncertain significance
Select item 395484	GRCh37/hg19 2q11.1-11.2(chr2:96698012-97757442)x3	ADRA2B, ANKRD23 +19 more	Copy number gain	See cases	GUncertain significance
Select item 394206	GRCh37/hg19 2q11.1-11.2(chr2:95691600-100587394)	AFF3, ADRA2B +53 more	Copy number gain	See cases	GPathogenic
Select item 160960	GRCh38/hg38 2q11.1-11.2(chr2:95879602-97029672)x3	ADRA2B, ANKRD23 +119 more	Copy number gain	See cases	GUncertain significance
Select item 155075	GRCh38/hg38 2q11.2(chr2:96073560-97589743)x3	ADRA2B, ANKRD23 +123 more	Copy number gain	See cases	GLikely benign
Select item 154747	GRCh38/hg38 2q11.2(chr2:96100816-97285797)x3	ADRA2B, ANKRD23 +121 more	Copy number gain	See cases	GUncertain significance
Select item 154733	GRCh38/hg38 2q11.2(chr2:96073560-97513144)x1	KANSL3, LMAN2L +123 more	Copy number loss	See cases	GPathogenic
Select item 153955	GRCh38/hg38 2q11.2(chr2:96066771-97285797)x3	ADRA2B, ANKRD23 +121 more	Copy number gain	See cases	GUncertain significance
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 148950	GRCh38/hg38 2q11.1-11.2(chr2:95337458-99072953)x3	ACTR1B, ADRA2B +207 more	Copy number gain	See cases	GUncertain significance
Select item 148751	GRCh38/hg38 2q11.1-11.2(chr2:95766541-97589743)x3	ADRA2B, ANKRD23 +131 more	Copy number gain	See cases	GUncertain significance

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