TTC36-AS1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	BCL9L, BLID +774 more	Copy number gain	See cases	GPathogenic
Select item 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	LOC130006895, LOC130006896 +355 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	ABCG4, ACAD8 +769 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	LOC128772366, LOC128772367 +764 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	LOC130006864, LOC130006865 +763 more	Copy number gain	See cases	GPathogenic
Select item 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	LOC130007002, LOC130007003 +499 more	Copy number gain	See cases	GPathogenic
Select item 153712	GRCh38/hg38 11q23.3(chr11:118503581-118554704)x3	IFT46, KMT2A +7 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 1652273	NM_001197104.2(KMT2A):c.11072-19T>C	KMT2A, TTC36-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2785385	NM_001197104.2(KMT2A):c.11072-18T>C	KMT2A, TTC36-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1961082	NM_001197104.2(KMT2A):c.11072-16C>A	KMT2A, TTC36-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1222107	NM_001197104.2(KMT2A):c.11072-3C>T	KMT2A, TTC36-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2500906	NM_001197104.2(KMT2A):c.11072-1G>A	KMT2A, TTC36-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Wiedemann-Steiner syndrome	GUncertain significance
Select item 1805571	NM_001197104.2(KMT2A):c.11073dup (p.Ala3692fs)	KMT2A, TTC36-AS1 (A3689fs +1 more)	Duplication (frameshift variant +1 more)	Wiedemann-Steiner syndrome	GPathogenic
Select item 3373176	NM_001197104.2(KMT2A):c.11074G>A (p.Ala3692Thr)	KMT2A, TTC36-AS1 (A3689T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 757393	NM_001197104.2(KMT2A):c.11076C>T (p.Ala3692=)	KMT2A, TTC36-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 211312	NM_001197104.2(KMT2A):c.11084C>G (p.Ser3695Ter)	KMT2A, TTC36-AS1 (S3695* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Wiedemann-Steiner syndrome	GPathogenic
Select item 1620485	NM_001197104.2(KMT2A):c.11091A>T (p.Thr3697=)	KMT2A, TTC36-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 523802	NM_001197104.2(KMT2A):c.11110C>T (p.Arg3704Ter)	TTC36-AS1, KMT2A (R3704* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 1674284	NM_001197104.2(KMT2A):c.11112A>G (p.Arg3704=)	KMT2A, TTC36-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1600195	NM_001197104.2(KMT2A):c.11113T>A (p.Ser3705Thr)	KMT2A, TTC36-AS1 (S3702T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2893502	NM_001197104.2(KMT2A):c.11115A>G (p.Ser3705=)	KMT2A, TTC36-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1992400	NM_001197104.2(KMT2A):c.11122del (p.Arg3708fs)	KMT2A, TTC36-AS1 (R3705fs +1 more)	Deletion (non-coding transcript variant +1 more)	Wiedemann-Steiner syndrome	GPathogenic
Select item 2499544	NM_001197104.2(KMT2A):c.11123G>C (p.Arg3708Pro)	KMT2A, TTC36-AS1 (R3705P +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Wiedemann-Steiner syndrome	GLikely pathogenic
Select item 1473220	NM_001197104.2(KMT2A):c.11123G>A (p.Arg3708His)	KMT2A, TTC36-AS1 (R3705H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2054500	NM_001197104.2(KMT2A):c.11130G>A (p.Lys3710=)	KMT2A, TTC36-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2020410	NM_001197104.2(KMT2A):c.11146+14G>A	KMT2A, TTC36-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2815668	NM_001197104.2(KMT2A):c.11146+20T>A	KMT2A, TTC36-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1179536	NM_001197104.2(KMT2A):c.11147-251A>C	KMT2A, TTC36-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222698	NM_001197104.2(KMT2A):c.11147-35G>A	KMT2A, TTC36-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3057652	NM_001197104.2(KMT2A):c.11147-11_11147-5dup	KMT2A, TTC36-AS1	Duplication (non-coding transcript variant +1 more)	KMT2A-related disorder	GLikely benign
Select item 2840525	NM_001197104.2(KMT2A):c.11147-12T>C	KMT2A, TTC36-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 771894	NM_001197104.2(KMT2A):c.11147-9T>A	KMT2A, TTC36-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 730490	NM_001197104.2(KMT2A):c.11147-5_11147-3del	KMT2A, TTC36-AS1	Microsatellite (non-coding transcript variant +1 more)	not provided	GBenign/Likely benign
Select item 3005007	NM_001197104.2(KMT2A):c.11147-7C>G	KMT2A, TTC36-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 429880	NM_001197104.2(KMT2A):c.11147-2A>G	KMT2A, TTC36-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 1512888	NM_001197104.2(KMT2A):c.11149G>A (p.Val3717Ile)	KMT2A, TTC36-AS1 (V3714I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1674935	NM_001197104.2(KMT2A):c.11154C>T (p.Asn3718=)	KMT2A, TTC36-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3366014	NM_001197104.2(KMT2A):c.11156G>A (p.Gly3719Asp)	KMT2A, TTC36-AS1 (G3716D +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3257386	NM_001197104.2(KMT2A):c.11171G>A (p.Gly3724Glu)	KMT2A, TTC36-AS1 (G3721E +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2035842	NM_001197104.2(KMT2A):c.11185G>A (p.Ala3729Thr)	KMT2A, TTC36-AS1 (A3759T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2786900	NM_001197104.2(KMT2A):c.11196C>T (p.Phe3732=)	KMT2A, TTC36-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1477278	NM_001197104.2(KMT2A):c.11201T>C (p.Ile3734Thr)	KMT2A, TTC36-AS1 (I3734T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2695601	NM_001197104.2(KMT2A):c.11204A>G (p.Glu3735Gly)	KMT2A, TTC36-AS1 (E3765G +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3362590	NM_001197104.2(KMT2A):c.11206del (p.Gln3736fs)	KMT2A, TTC36-AS1 (Q3733fs +2 more)	Deletion (non-coding transcript variant +1 more)	Wiedemann-Steiner syndrome	GLikely pathogenic
Select item 2052516	NM_001197104.2(KMT2A):c.11212T>C (p.Ser3738Pro)	KMT2A, TTC36-AS1 (S3738P +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1536994	NM_001197104.2(KMT2A):c.11214T>G (p.Ser3738=)	KMT2A, TTC36-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1926069	NM_001197104.2(KMT2A):c.11228G>A (p.Cys3743Tyr)	KMT2A, TTC36-AS1 (C3740Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 376783	NM_001197104.2(KMT2A):c.11230C>T (p.Arg3744Ter)	KMT2A, TTC36-AS1 (R3744* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1428137	NM_001197104.2(KMT2A):c.11231G>A (p.Arg3744Gln)	KMT2A, TTC36-AS1 (R3741Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1517628	NM_001197104.2(KMT2A):c.11246G>A (p.Arg3749His)	KMT2A, TTC36-AS1 (R3746H +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2800693	NM_001197104.2(KMT2A):c.11257C>A (p.Pro3753Thr)	KMT2A, TTC36-AS1 (P3750T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2597069	NM_001197104.2(KMT2A):c.11260G>A (p.Glu3754Lys)	KMT2A, TTC36-AS1 (E3754K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1704849	NM_001197104.2(KMT2A):c.11260G>C (p.Glu3754Gln)	TTC36-AS1, KMT2A (E3751Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2893948	NM_001197104.2(KMT2A):c.11270A>G (p.Asn3757Ser)	KMT2A, TTC36-AS1 (N3757S +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1706164	NM_001197104.2(KMT2A):c.11272G>C (p.Glu3758Gln)	KMT2A, TTC36-AS1 (E3755Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 521535	NM_001197104.2(KMT2A):c.11280del (p.Pro3760_Leu3761insTer)	KMT2A, TTC36-AS1	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2422045	NM_001197104.2(KMT2A):c.11281T>C (p.Leu3761=)	TTC36-AS1, KMT2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2797209	NM_001197104.2(KMT2A):c.11289T>C (p.Pro3763=)	KMT2A, TTC36-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2700567	NM_001197104.2(KMT2A):c.11291A>G (p.His3764Arg)	KMT2A, TTC36-AS1 (H3794R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1714780	NM_001197104.2(KMT2A):c.11292C>A (p.His3764Gln)	KMT2A, TTC36-AS1 (H3761Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 710751	NM_001197104.2(KMT2A):c.11292C>T (p.His3764=)	KMT2A, TTC36-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1192048	NM_001197104.2(KMT2A):c.11295C>T (p.Gly3765=)	KMT2A, TTC36-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2843982	NM_001197104.2(KMT2A):c.11303G>T (p.Arg3768Met)	KMT2A, TTC36-AS1 (R3768M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1901313	NM_001197104.2(KMT2A):c.11311G>A (p.Val3771Ile)	KMT2A, TTC36-AS1 (V3771I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 445628	NM_001197104.2(KMT2A):c.11317C>T (p.Leu3773Phe)	KMT2A, TTC36-AS1 (L3773F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2694074	NM_001197104.2(KMT2A):c.11321+13_11321+15del	KMT2A, TTC36-AS1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1906751	NM_001197104.2(KMT2A):c.11321+14T>A	KMT2A, TTC36-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1286648	NM_001197104.2(KMT2A):c.11322-48G>A	KMT2A, TTC36-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1554965	NM_001197104.2(KMT2A):c.11322-13C>T	KMT2A, TTC36-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1683287	NM_001197104.2(KMT2A):c.11322-6C>A	KMT2A, TTC36-AS1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2663208	NM_001197104.2(KMT2A):c.11324A>G (p.Lys3775Arg)	KMT2A, TTC36-AS1 (K3772R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1384562	NM_001197104.2(KMT2A):c.11326T>G (p.Ser3776Ala)	KMT2A, TTC36-AS1 (S3773A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2013968	NM_001197104.2(KMT2A):c.11329G>A (p.Ala3777Thr)	KMT2A, TTC36-AS1 (A3807T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978351	NM_001197104.2(KMT2A):c.11340G>C (p.Met3780Ile)	KMT2A, TTC36-AS1 (M3777I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2697008	NM_001197104.2(KMT2A):c.11346C>A (p.Asn3782Lys)	KMT2A, TTC36-AS1 (N3779K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1709299	NM_001197104.2(KMT2A):c.11366G>A (p.Arg3789His)	KMT2A, TTC36-AS1 (R3786H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2694999	NM_001197104.2(KMT2A):c.11370G>A (p.Gln3790=)	KMT2A, TTC36-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2864576	NM_001197104.2(KMT2A):c.11378A>G (p.Glu3793Gly)	KMT2A, TTC36-AS1 (E3793G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1360108	NM_001197104.2(KMT2A):c.11384A>G (p.Asn3795Ser)	KMT2A, TTC36-AS1 (N3795S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 981800	NM_001197104.2(KMT2A):c.11388del (p.Asn3797fs)	KMT2A, TTC36-AS1 (N3794fs +1 more)	Deletion (frameshift variant)	Wiedemann-Steiner syndrome	GPathogenic
Select item 1312177	NM_001197104.2(KMT2A):c.11386C>A (p.Pro3796Thr)	KMT2A, TTC36-AS1 (P3793T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2801920	NM_001197104.2(KMT2A):c.11388C>A (p.Pro3796=)	KMT2A, TTC36-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 732244	NM_001197104.2(KMT2A):c.11391T>C (p.Asn3797=)	KMT2A, TTC36-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1695501	NM_001197104.2(KMT2A):c.11428C>T (p.Arg3810Trp)	KMT2A, TTC36-AS1 (R3807W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2281552	NM_001197104.2(KMT2A):c.11429G>T (p.Arg3810Leu)	KMT2A, TTC36-AS1 (R3807L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1942311	NM_001197104.2(KMT2A):c.11429G>A (p.Arg3810Gln)	KMT2A, TTC36-AS1 (R3807Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663603	NM_001197104.2(KMT2A):c.11429+5G>A	KMT2A, TTC36-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2132745	NM_001197104.2(KMT2A):c.11429+17G>C	KMT2A, TTC36-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1168833	NM_001197104.2(KMT2A):c.11429+19G>A	KMT2A, TTC36-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2769832	NM_001197104.2(KMT2A):c.11429+20C>A	KMT2A, TTC36-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2627864	NM_001197104.2(KMT2A):c.11430-250_11643+240del	KMT2A, TTC36-AS1	Deletion (splice acceptor variant +1 more)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1219460	NM_001197104.2(KMT2A):c.11430-142dup	KMT2A, TTC36-AS1	Duplication (intron variant)	not provided	GLikely benign
Select item 1242710	NM_001197104.2(KMT2A):c.11430-142A>G	KMT2A, TTC36-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235589	NM_001197104.2(KMT2A):c.11430-115C>T	KMT2A, TTC36-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2816476	NM_001197104.2(KMT2A):c.11430-18G>A	KMT2A, TTC36-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2101707	NM_001197104.2(KMT2A):c.11430-7C>G	KMT2A, TTC36-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2504967	NM_001197104.2(KMT2A):c.11437A>G (p.Thr3813Ala)	KMT2A, TTC36-AS1 (T3810A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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