ClinVar for Gene (Select 23040) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3352909	NM_001303052.2(MYT1L):c.2442C>T (p.Gly814=)	MYT1L	Single nucleotide variant (synonymous variant)	MYT1L-related disorder	GLikely benign
Select item 3352308	NM_001303052.2(MYT1L):c.3277-9G>A	MYT1L	Single nucleotide variant (intron variant)	MYT1L-related disorder	GLikely benign
Select item 3350873	NM_001303052.2(MYT1L):c.2223G>A (p.Thr741=)	MYT1L	Single nucleotide variant (synonymous variant)	MYT1L-related disorder	GLikely benign
Select item 3349578	NM_001303052.2(MYT1L):c.1353G>A (p.Lys451=)	MYT1L	Single nucleotide variant (synonymous variant)	MYT1L-related disorder	GLikely benign
Select item 3349270	NM_001303052.2(MYT1L):c.189del (p.Gln64fs)	MYT1L (Q64fs)	Deletion (frameshift variant)	MYT1L-related disorder	GLikely pathogenic
Select item 3348921	NM_001303052.2(MYT1L):c.293A>G (p.Asp98Gly)	MYT1L (D98G)	Single nucleotide variant (missense variant)	MYT1L-related disorder	GUncertain significance
Select item 3348431	NM_001303052.2(MYT1L):c.3217A>C (p.Lys1073Gln)	MYT1L (K1071Q +1 more)	Single nucleotide variant (missense variant)	MYT1L-related disorder	GUncertain significance
Select item 3343354	NM_001303052.2(MYT1L):c.1877C>T (p.Pro626Leu)	MYT1L (P624L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341580	NM_001303052.2(MYT1L):c.1803G>A (p.Ser601=)	MYT1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3340867	NM_001303052.2(MYT1L):c.2257A>C (p.Lys753Gln)	MYT1L (K751Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340531	NM_001303052.2:g.(?_1851612)_(1943337_?)del	MYT1L	Deletion	Intellectual disability, autosomal dominant 39	GLikely pathogenic
Select item 3338193	NM_001303052.2(MYT1L):c.394del (p.Glu132fs)	MYT1L (E132fs)	Deletion (frameshift variant)	Autism	GPathogenic
Select item 3336225	NM_001303052.2(MYT1L):c.412G>A (p.Glu138Lys)	MYT1L (E138K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298194	NM_001303052.2(MYT1L):c.2269C>G (p.Leu757Val)	MYT1L (L755V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298193	NM_001303052.2(MYT1L):c.2230C>T (p.Arg744Cys)	MYT1L (R744C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298192	NM_001303052.2(MYT1L):c.1433G>A (p.Arg478Lys)	MYT1L (R478K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298191	NM_001303052.2(MYT1L):c.3423T>A (p.Asp1141Glu)	MYT1L (D1139E +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3298190	NM_001303052.2(MYT1L):c.3471A>C (p.Glu1157Asp)	MYT1L (E1155D +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 3298189	NM_001303052.2(MYT1L):c.898G>A (p.Val300Ile)	MYT1L (V300I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3255172	NM_001303052.2(MYT1L):c.377del (p.Glu126fs)	MYT1L (E126fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 39	GPathogenic
Select item 3254823	NM_001303052.2(MYT1L):c.1543G>T (p.Gly515Cys)	MYT1L (G513C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 39	GUncertain significance
Select item 3254559	NM_001303052.2(MYT1L):c.2042A>G (p.Tyr681Cys)	MYT1L (Y679C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 39	GUncertain significance
Select item 3252874	NM_001303052.2(MYT1L):c.2752G>A (p.Gly918Ser)	MYT1L (G916S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252790	NM_001303052.2(MYT1L):c.1037C>T (p.Pro346Leu)	MYT1L (P346L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252154	NM_001303052.2(MYT1L):c.3175A>G (p.Ile1059Val)	MYT1L (I1057V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3242306	GRCh37/hg19 2p25.3(chr2:11314-3033976)x1	ACP1, ALKAL2 +7 more	Copy number loss	not provided	GPathogenic
Select item 3242290	GRCh37/hg19 2p25.3(chr2:1798393-2162086)x3	MYT1L	Copy number gain	not provided	GUncertain significance
Select item 3242180	NM_001303052.2(MYT1L):c.338A>T (p.Asp113Val)	MYT1L (D113V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 39	GUncertain significance
Select item 3234456	NM_001303052.2(MYT1L):c.2486G>A (p.Arg829Gln)	MYT1L (R827Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3233980	NM_001303052.2(MYT1L):c.647C>A (p.Ala216Asp)	MYT1L (A216D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170190	NM_001303052.2(MYT1L):c.529A>G (p.Asn177Asp)	MYT1L (N177D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3170182	NM_001303052.2(MYT1L):c.3544A>G (p.Arg1182Gly)	MYT1L (R1180G +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3170175	NM_001303052.2(MYT1L):c.3287T>C (p.Met1096Thr)	MYT1L (M1094T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3170168	NM_001303052.2(MYT1L):c.2999T>C (p.Val1000Ala)	MYT1L (V998A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3170163	NM_001303052.2(MYT1L):c.296T>C (p.Met99Thr)	MYT1L (M99T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3170151	NM_001303052.2(MYT1L):c.26G>C (p.Arg9Pro)	MYT1L (R9P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3170128	NM_001303052.2(MYT1L):c.2460C>T (p.Pro820=)	MYT1L	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3170102	NM_001303052.2(MYT1L):c.1424G>A (p.Gly475Glu)	MYT1L (G475E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3170087	NM_001303052.2(MYT1L):c.1110G>T (p.Arg370Ser)	MYT1L (R370S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3064029	NM_001303052.2(MYT1L):c.1639del (p.Val547fs)	MYT1L (V545fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 39	Gnot provided
Select item 3063554	GRCh37/hg19 2p25.3(chr2:1649820-2022213)x3	MYT1L, PXDN	Copy number gain	not specified	GUncertain significance
Select item 3062650	GRCh37/hg19 2p25.3(chr2:1741885-1836994)x3	MYT1L, PXDN	Copy number gain	not specified	GUncertain significance
Select item 3062447	GRCh37/hg19 2p25.3(chr2:2048610-2087077)x1	MYT1L	Copy number loss	not specified	GUncertain significance
Select item 3062370	GRCh37/hg19 2p25.3(chr2:1997884-2224132)x3	MYT1L	Copy number gain	not specified	GUncertain significance
Select item 3061408	NM_001303052.2(MYT1L):c.578A>G (p.Glu193Gly)	MYT1L (E193G)	Single nucleotide variant (missense variant)	MYT1L-related disorder	GUncertain significance
Select item 3057988	NM_001303052.2(MYT1L):c.1052C>T (p.Pro351Leu)	MYT1L (P351L)	Single nucleotide variant (missense variant)	MYT1L-related disorder	GLikely benign
Select item 3056291	NM_001303052.2(MYT1L):c.2865G>A (p.Pro955=)	MYT1L	Single nucleotide variant (synonymous variant)	MYT1L-related disorder	GLikely benign
Select item 3056156	NM_001303052.2(MYT1L):c.503del (p.Asn168fs)	MYT1L (N168fs)	Deletion (frameshift variant)	MYT1L-related disorder	GPathogenic
Select item 3049783	NM_001303052.2(MYT1L):c.2282G>A (p.Arg761Gln)	MYT1L (R759Q +1 more)	Single nucleotide variant (missense variant)	MYT1L-related disorder	GUncertain significance
Select item 3036855	NM_001303052.2(MYT1L):c.629A>G (p.Lys210Arg)	MYT1L (K210R)	Single nucleotide variant (missense variant)	MYT1L-related disorder	GUncertain significance
Select item 3036756	NM_001303052.2(MYT1L):c.1023C>T (p.Leu341=)	MYT1L	Single nucleotide variant (synonymous variant)	MYT1L-related disorder	GLikely benign
Select item 3035081	NM_001303052.2(MYT1L):c.576C>T (p.Asp192=)	MYT1L	Single nucleotide variant (synonymous variant)	MYT1L-related disorder	GLikely benign
Select item 3030028	NM_001303052.2(MYT1L):c.3125A>T (p.Lys1042Met)	MYT1L (K1040M +1 more)	Single nucleotide variant (missense variant)	MYT1L-related disorder	GUncertain significance
Select item 3026857	NM_001303052.2(MYT1L):c.2450G>A (p.Trp817Ter)	MYT1L (W815* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3026245	NM_001303052.2(MYT1L):c.3080+1360A>G	MYT1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3026199	NM_001303052.2(MYT1L):c.1073G>A (p.Arg358His)	MYT1L (R358H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3025956	NM_001303052.2(MYT1L):c.2801A>G (p.Lys934Arg)	MYT1L (K932R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3024337	NM_001303052.2(MYT1L):c.982G>T (p.Glu328Ter)	MYT1L (E328*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 39	GPathogenic
Select item 3024176	NC_000002.12:g.(?_1852302)_(2191394_?)dup	LOC129932982, MYT1L	Duplication	Autism spectrum disorder	GLikely pathogenic
Select item 2809273	NM_001303052.2(MYT1L):c.1898A>G (p.Asn633Ser)	MYT1L (N631S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2689521	NM_001303052.2(MYT1L):c.1423G>A (p.Gly475Arg)	MYT1L (G475R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 39	GUncertain significance
Select item 2685849	GRCh37/hg19 2p25.3(chr2:1741828-1855259)x3	MYT1L, PXDN	Copy number gain	not provided	GUncertain significance
Select item 2685848	GRCh37/hg19 2p25.3(chr2:1498592-2153497)x3	MYT1L, PXDN +1 more	Copy number gain	not provided	GUncertain significance
Select item 2672795	NM_001303052.2(MYT1L):c.1875C>T (p.Val625=)	MYT1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2672794	NM_001303052.2(MYT1L):c.3080+8283T>C	MYT1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2671972	GRCh37/hg19 2p25.3(chr2:12770-2832894)x1	ACP1, ALKAL2 +7 more	Copy number loss	Intellectual disability, autosomal dominant 39	GPathogenic
Select item 2664556	NM_001303052.2(MYT1L):c.1457A>G (p.His486Arg)	MYT1L (H486R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663611	NM_001303052.2(MYT1L):c.2063GCA[3] (p.Ser691del)	MYT1L (S689del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2662423	NM_001303052.2(MYT1L):c.223C>T (p.Arg75Ter)	MYT1L (R75*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2650631	NM_001303052.2(MYT1L):c.173C>T (p.Ala58Val)	MYT1L (A58V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2650630	NM_001303052.2(MYT1L):c.216T>C (p.Ala72=)	MYT1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650629	NM_001303052.2(MYT1L):c.687C>G (p.Thr229=)	MYT1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650628	NM_001303052.2(MYT1L):c.1296C>G (p.Thr432=)	MYT1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650627	NM_001303052.2(MYT1L):c.1468C>T (p.Pro490Ser)	MYT1L (P490S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2650626	NM_001303052.2(MYT1L):c.2063G>C (p.Ser688Thr)	MYT1L (S686T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2650625	NM_001303052.2(MYT1L):c.2107C>G (p.Leu703Val)	MYT1L (L701V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2650624	NM_001303052.2(MYT1L):c.2712-8489G>A	MYT1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2650623	NM_001303052.2(MYT1L):c.2931G>A (p.Gly977=)	MYT1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650622	NM_001303052.2(MYT1L):c.3075C>T (p.His1025=)	MYT1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650621	NM_001303052.2(MYT1L):c.3080+1356A>G	MYT1L	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2650620	NM_001303052.2(MYT1L):c.3080+1369A>G	MYT1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2650619	NM_001303052.2(MYT1L):c.3080+1488G>A	MYT1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2650618	NM_001303052.2(MYT1L):c.3080+1538G>A	MYT1L	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2650617	NM_001303052.2(MYT1L):c.3080+4019C>T	MYT1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2650616	NM_001303052.2(MYT1L):c.3080+4073_3080+4105del	MYT1L	Deletion (intron variant)	not provided	GBenign
Select item 2650615	NM_001303052.2(MYT1L):c.3080+4049_3080+4147del	MYT1L	Deletion (intron variant)	not provided	GBenign
Select item 2650614	NM_001303052.2(MYT1L):c.3080+4168_3080+4200del	MYT1L	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2650613	NM_001303052.2(MYT1L):c.3080+8229G>T	MYT1L	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2650612	NM_001303052.2(MYT1L):c.3080+8315G>A	MYT1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2650611	NM_001303052.2(MYT1L):c.3285G>A (p.Thr1095=)	MYT1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650610	NM_001303052.2(MYT1L):c.3374G>A (p.Ser1125Asn)	MYT1L (S1123N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2637811	NM_001303052.2(MYT1L):c.165T>A (p.Cys55Ter)	MYT1L (C55*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 39	GPathogenic
Select item 2637379	NM_001303052.2(MYT1L):c.590A>G (p.Tyr197Cys)	MYT1L (Y197C)	Single nucleotide variant (missense variant)	MYT1L-related disorder	GUncertain significance
Select item 2637378	NM_001303052.2(MYT1L):c.3246G>A (p.Met1082Ile)	MYT1L (M1080I +1 more)	Single nucleotide variant (missense variant)	MYT1L-related disorder	GUncertain significance
Select item 2635546	NM_001303052.2(MYT1L):c.2T>A (p.Met1Lys)	MYT1L (M1K)	Single nucleotide variant (missense variant +1 more)	MYT1L-related disorder	GUncertain significance
Select item 2632323	NM_001303052.2(MYT1L):c.533C>G (p.Thr178Ser)	MYT1L (T178S)	Single nucleotide variant (missense variant)	MYT1L-related disorder	GUncertain significance
Select item 2629593	NM_001303052.2(MYT1L):c.251_252delinsCA (p.Ser84Thr)	MYT1L (S84T)	Indel (missense variant)	MYT1L-related disorder	GUncertain significance
Select item 2619300	NM_001303052.2(MYT1L):c.1786A>C (p.Lys596Gln)	MYT1L (K596Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582552	NM_001303052.2(MYT1L):c.2274C>A (p.Cys758Ter)	MYT1L (C756* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 39	GLikely pathogenic

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