MYT1L[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155714	GRCh38/hg38 2p25.3(chr2:12770-4318861)x3	SNTG2-AS1, TMEM18 +104 more	Copy number gain	See cases	GUncertain significance
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	ATAD2B, ATP6V1C2 +653 more	Copy number gain	See cases	GPathogenic
Select item 153475	GRCh38/hg38 2p25.3(chr2:12770-2748672)x1	ACP1, ALKAL2 +50 more	Copy number loss	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	ABHD1, ACP1 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152339	GRCh38/hg38 2p25.3(chr2:12770-2310816)x1	ACP1, ALKAL2 +46 more	Copy number loss	See cases	GLikely pathogenic
Select item 152888	GRCh38/hg38 2p25.3(chr2:17019-2305267)x1	ACP1, ALKAL2 +46 more	Copy number loss	See cases	GPathogenic
Select item 152693	GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3	ACP1, ADAM17 +498 more	Copy number gain	See cases	GPathogenic
Select item 152440	GRCh38/hg38 2p25.3-25.2(chr2:17019-4957745)x3	ACP1, ADI1 +108 more	Copy number gain	See cases	GLikely pathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933312, LOC129933313 +736 more	Copy number gain	See cases	GPathogenic
Select item 154668	GRCh38/hg38 2p25.3-25.2(chr2:30341-4642399)x3	ACP1, ADI1 +107 more	Copy number gain	See cases	GPathogenic
Select item 148175	GRCh38/hg38 2p25.3(chr2:30341-2656139)x1	ACP1, ALKAL2 +49 more	Copy number loss	See cases	GPathogenic
Select item 146260	GRCh38/hg38 2p25.3(chr2:30341-1969402)x1	ACP1, ALKAL2 +45 more	Copy number loss	See cases	GPathogenic
Select item 146223	GRCh38/hg38 2p25.3(chr2:30341-3449132)x1	ACP1, ALKAL2 +75 more	Copy number loss	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	C2orf48, C2orf50 +893 more	Copy number gain	See cases	GPathogenic
Select item 144454	GRCh38/hg38 2p25.3-25.2(chr2:30341-4932359)x3	ACP1, ADI1 +108 more	Copy number gain	See cases	GPathogenic
Select item 59131	GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3	ACP1, ADAM17 +413 more	Copy number gain	See cases	GPathogenic
Select item 60104	GRCh38/hg38 2p25.3(chr2:50661-3293835)x1	ACP1, ALKAL2 +68 more	Copy number loss	See cases	GPathogenic
Select item 59132	GRCh38/hg38 2p25.3-25.1(chr2:50661-9652907)x3	LOC126806115, LOC126806116 +237 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	ABCG5, ABCG8 +1631 more	Copy number gain	See cases	GPathogenic
Select item 154817	GRCh38/hg38 2p25.3(chr2:131730-2713517)x1	ACP1, ALKAL2 +49 more	Copy number loss	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152527	GRCh38/hg38 2p25.3(chr2:1614809-1844295)x3	MYT1L, PXDN	Copy number gain	See cases	GLikely benign
Select item 148848	GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	ADAM17, ADI1 +546 more	Copy number gain	See cases	GPathogenic
Select item 146412	GRCh38/hg38 2p25.3(chr2:1784717-2305267)x3	LOC129932982, MYT1L	Copy number gain	See cases	Gconflicting data from submitters
Select item 1810456	NM_001303052.2(MYT1L):c.3547G>A (p.Gly1183Arg)	MYT1L (G1181R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	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 1699760	NM_001303052.2(MYT1L):c.3530_3531del (p.Ile1177fs)	MYT1L (I1175fs +1 more)	Microsatellite (frameshift variant +2 more)	not provided	GUncertain significance
Select item 1184363	NM_001303052.2(MYT1L):c.3529A>G (p.Ile1177Val)	MYT1L (I1175V +1 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal dominant 39	GUncertain significance
Select item 1698124	NM_001303052.2(MYT1L):c.3476A>G (p.Tyr1159Cys)	MYT1L (Y1157C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2459498	NM_001303052.2(MYT1L):c.3427A>G (p.Ile1143Val)	MYT1L (I1141V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1218776	NM_001303052.2(MYT1L):c.3420+45G>A	MYT1L	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1343898	NM_001303052.2(MYT1L):c.3393C>A (p.Ser1131Arg)	MYT1L (S1129R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1310237	NM_001303052.2(MYT1L):c.3358G>C (p.Glu1120Gln)	MYT1L (E1118Q +1 more)	Single nucleotide variant (missense variant)	not provided	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 2650611	NM_001303052.2(MYT1L):c.3285G>A (p.Thr1095=)	MYT1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1208096	NM_001303052.2(MYT1L):c.3277-227A>G	MYT1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190842	NM_001303052.2(MYT1L):c.3277-243A>G	MYT1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228336	NM_001303052.2(MYT1L):c.3277-268A>C	MYT1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220316	NM_001303052.2(MYT1L):c.3276+143T>C	MYT1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225961	NM_001303052.2(MYT1L):c.3276+39G>A	MYT1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249518	NM_001303052.2(MYT1L):c.3276+38C>T	MYT1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282563	NM_001303052.2(MYT1L):c.3255T>C (p.Asp1085=)	MYT1L	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2572675	NM_001303052.2(MYT1L):c.3214A>C (p.Ile1072Leu)	MYT1L (I1070L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708405	NM_001303052.2(MYT1L):c.3200A>T (p.Gln1067Leu)	MYT1L (Q1065L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2434004	NM_001303052.2(MYT1L):c.3196A>C (p.Lys1066Gln)	MYT1L (K1064Q +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 39	GUncertain significance
Select item 2292016	NM_001303052.2(MYT1L):c.3173-5T>G	MYT1L	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely benign
Select item 1187131	NM_001303052.2(MYT1L):c.3173-114A>G	MYT1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1271398	NM_001303052.2(MYT1L):c.3173-177G>A	MYT1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240854	NM_001303052.2(MYT1L):c.3173-202A>G	MYT1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220712	NM_001303052.2(MYT1L):c.3173-323A>C	MYT1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207032	NM_001303052.2(MYT1L):c.3173-326G>A	MYT1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186604	NM_001303052.2(MYT1L):c.3172+279A>G	MYT1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1174218	NM_001303052.2(MYT1L):c.3172+56G>A	MYT1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216379	NM_001303052.2(MYT1L):c.3172+21C>T	MYT1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1690672	NM_001303052.2(MYT1L):c.3172+3G>A	MYT1L	Single nucleotide variant (intron variant)	See cases	GUncertain significance
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 750133	NM_001303052.2(MYT1L):c.3096G>A (p.Pro1032=)	MYT1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 489227	NM_001303052.2(MYT1L):c.3081-2A>G	MYT1L	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1326209	NM_001303052.2(MYT1L):c.3081-15_3081-8dup	MYT1L	Duplication (intron variant)	not provided	GUncertain significance
Select item 1242470	NM_001303052.2(MYT1L):c.3081-118C>A	MYT1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286431	NM_001303052.2(MYT1L):c.3081-256_3081-255insT	MYT1L	Insertion (intron variant)	not provided	GBenign
Select item 1335373	NM_001303052.2(MYT1L):c.3080+8343G>A	MYT1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2650612	NM_001303052.2(MYT1L):c.3080+8315G>A	MYT1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2672794	NM_001303052.2(MYT1L):c.3080+8283T>C	MYT1L	Single nucleotide variant (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 1694947	NM_001303052.2(MYT1L):c.3080+4355_3080+4387del	MYT1L	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2498800	NM_001303052.2(MYT1L):c.3080+4201_3080+4266del	MYT1L	Deletion (intron variant)	not provided	GBenign
Select item 1675762	NM_001303052.2(MYT1L):c.3080+4214T>C	MYT1L	Single nucleotide variant (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 1694948	NM_001303052.2(MYT1L):c.3080+4198G>A	MYT1L	Single nucleotide variant (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 2650616	NM_001303052.2(MYT1L):c.3080+4073_3080+4105del	MYT1L	Deletion (intron variant)	not provided	GBenign
Select item 2650617	NM_001303052.2(MYT1L):c.3080+4019C>T	MYT1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2650618	NM_001303052.2(MYT1L):c.3080+1538G>A	MYT1L	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2650619	NM_001303052.2(MYT1L):c.3080+1488G>A	MYT1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2650620	NM_001303052.2(MYT1L):c.3080+1369A>G	MYT1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3026245	NM_001303052.2(MYT1L):c.3080+1360A>G	MYT1L	Single nucleotide variant (intron 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 1279863	NM_001303052.2(MYT1L):c.3080+147A>G	MYT1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273488	NM_001303052.2(MYT1L):c.3080+134G>A	MYT1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269106	NM_001303052.2(MYT1L):c.3080+45G>C	MYT1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195469	NM_001303052.2(MYT1L):c.3080+42G>A	MYT1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 445413	NM_001303052.2(MYT1L):c.3080+12C>A	MYT1L	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 633557	NM_001303052.2(MYT1L):c.3076C>A (p.Arg1026Ser)	MYT1L (R1026S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2650622	NM_001303052.2(MYT1L):c.3075C>T (p.His1025=)	MYT1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1242172	NM_001303052.2(MYT1L):c.3039C>T (p.Asp1013=)	MYT1L	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1261017	NM_001303052.2(MYT1L):c.3033A>T (p.Gly1011=)	MYT1L	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1175098	NM_001303052.2(MYT1L):c.3033A>G (p.Gly1011=)	MYT1L	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 39 +1 more	GBenign
Select item 2434007	NM_001303052.2(MYT1L):c.3014T>C (p.Met1005Thr)	MYT1L (M1003T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 39	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 978049	NM_001303052.2(MYT1L):c.2996C>A (p.Ser999Ter)	MYT1L (S997* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 39	GPathogenic
Select item 2581348	NM_001303052.2(MYT1L):c.2944G>T (p.Ala982Ser)	MYT1L (A980S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650623	NM_001303052.2(MYT1L):c.2931G>A (p.Gly977=)	MYT1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 789962	NM_001303052.2(MYT1L):c.2922C>T (p.Ser974=)	MYT1L	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 724944	NM_001303052.2(MYT1L):c.2910G>A (p.Ala970=)	MYT1L	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 432388	NM_001303052.2(MYT1L):c.2881G>A (p.Gly961Ser)	MYT1L (G959S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 793432	NM_001303052.2(MYT1L):c.2877C>T (p.Cys959=)	MYT1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1259105	NM_001303052.2(MYT1L):c.2871C>T (p.Pro957=)	MYT1L	Single nucleotide variant (synonymous variant)	not provided	GBenign

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