MYT1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	LOC130066385, LOC130066386 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	LOC130066289, LOC130066290 +491 more	Copy number gain	See cases	GPathogenic
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066383, LOC130066384 +464 more	Copy number gain	See cases	GPathogenic
Select item 146530	GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3	LOC130066362, LOC130066363 +355 more	Copy number gain	See cases	GPathogenic
Select item 150212	GRCh38/hg38 20q13.33(chr20:61326549-64277326)x3	ABHD16B, ADRM1 +312 more	Copy number gain	See cases	GPathogenic
Select item 58975	GRCh38/hg38 20q13.33(chr20:62545370-64241486)x1	ABHD16B, ARFGAP1 +249 more	Copy number loss	See cases	GPathogenic
Select item 144360	GRCh38/hg38 20q13.33(chr20:62561794-64277321)x1	ABHD16B, ARFGAP1 +248 more	Copy number loss	See cases	GPathogenic
Select item 153305	GRCh38/hg38 20q13.33(chr20:62582073-64284202)x1	LOC130066412, LOC130066413 +244 more	Copy number loss	See cases	GPathogenic
Select item 153207	GRCh38/hg38 20q13.33(chr20:62663307-64284202)x1	ABHD16B, ARFGAP1 +230 more	Copy number loss	See cases	GPathogenic
Select item 148310	GRCh38/hg38 20q13.33(chr20:63153963-64277321)x1	RGS19, RTEL1 +181 more	Copy number loss	See cases	GPathogenic
Select item 160985	GRCh38/hg38 20q13.33(chr20:63199020-64277321)x3	ABHD16B, ARFGAP1 +177 more	Copy number gain	See cases	GPathogenic
Select item 146197	GRCh38/hg38 20q13.33(chr20:63199020-64277321)x1	ABHD16B, ARFGAP1 +177 more	Copy number loss	See cases	GLikely pathogenic
Select item 153330	GRCh38/hg38 20q13.33(chr20:63385523-64270639)x3	ABHD16B, ARFRP1 +156 more	Copy number gain	See cases	GUncertain significance
Select item 147280	GRCh38/hg38 20q13.33(chr20:64023324-64261777)x1	C20orf204, LKAAEAR1 +31 more	Copy number loss	See cases	GPathogenic
Select item 144315	GRCh38/hg38 20q13.33(chr20:64130783-64277321)x3	LOC110594337, LOC120285836 +3 more	Copy number gain	See cases	GBenign
Select item 59001	GRCh38/hg38 20q13.33(chr20:64140190-64277321)x3	LOC120285836, LOC126863092 +2 more	Copy number gain	See cases	GUncertain significance
Select item 57186	GRCh38/hg38 20q13.33(chr20:64157529-64277321)x3	LOC120285836, MYT1 +1 more	Copy number gain	See cases	GUncertain significance
Select item 154439	GRCh38/hg38 20q13.33(chr20:64177078-64277326)x3	MYT1, PCMTD2	Copy number gain	See cases	GUncertain significance
Select item 145936	GRCh38/hg38 20q13.33(chr20:64197187-64317737)x3	LINC00266-1, MYT1 +1 more	Copy number gain	See cases	GLikely benign
Select item 144162	GRCh38/hg38 20q13.33(chr20:64197187-64277321)x3	MYT1, PCMTD2	Copy number gain	See cases	GUncertain significance
Select item 3170056	NM_004535.3(MYT1):c.46G>T (p.Ala16Ser)	MYT1 (A16S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 781591	NM_004535.3(MYT1):c.55+10G>A	MYT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294003	NM_004535.3(MYT1):c.87-6C>T	MYT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3169944	NM_004535.3(MYT1):c.112T>G (p.Ser38Ala)	MYT1 (S38A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3052983	NM_004535.3(MYT1):c.117G>A (p.Gly39=)	MYT1	Single nucleotide variant (synonymous variant)	MYT1-related disorder	GLikely benign
Select item 2457740	NM_004535.3(MYT1):c.125G>A (p.Arg42Gln)	MYT1 (R42Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3041098	NM_004535.3(MYT1):c.192C>T (p.Gly64=)	MYT1	Single nucleotide variant (synonymous variant)	MYT1-related disorder	GLikely benign
Select item 3047214	NM_004535.3(MYT1):c.216C>T (p.Ser72=)	MYT1	Single nucleotide variant (synonymous variant)	MYT1-related disorder	GLikely benign
Select item 2378742	NM_004535.3(MYT1):c.229C>T (p.His77Tyr)	MYT1 (H77Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612658	NM_004535.3(MYT1):c.232C>G (p.Pro78Ala)	MYT1 (P78A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3057011	NM_004535.3(MYT1):c.235C>T (p.Leu79=)	MYT1	Single nucleotide variant (synonymous variant)	MYT1-related disorder	GLikely benign
Select item 2303272	NM_004535.3(MYT1):c.244G>C (p.Ala82Pro)	MYT1 (A82P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458841	NM_004535.3(MYT1):c.253G>A (p.Glu85Lys)	MYT1 (E85K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3170027	NM_004535.3(MYT1):c.254A>G (p.Glu85Gly)	MYT1 (E85G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217310	NM_004535.3(MYT1):c.290C>T (p.Thr97Ile)	MYT1 (T97I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 779474	NM_004535.3(MYT1):c.315G>A (p.Ser105=)	MYT1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 975611	NM_004535.3(MYT1):c.346G>A (p.Glu116Lys)	MYT1 (E116K)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 2462991	NM_004535.3(MYT1):c.379C>T (p.Arg127Cys)	MYT1 (R127C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 717277	NM_004535.3(MYT1):c.384C>T (p.Pro128=)	MYT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3035083	NM_004535.3(MYT1):c.397+10C>T	MYT1	Single nucleotide variant (intron variant)	MYT1-related disorder	GLikely benign
Select item 58980	GRCh38/hg38 20q13.33(chr20:64206685-64261836)x1	MYT1, PCMTD2	Copy number loss	See cases	GPathogenic
Select item 737855	NM_004535.3(MYT1):c.409G>A (p.Val137Ile)	MYT1 (V137I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3037487	NM_004535.3(MYT1):c.412A>G (p.Lys138Glu)	MYT1 (K138E)	Single nucleotide variant (missense variant)	MYT1-related disorder	GLikely benign
Select item 2302066	NM_004535.3(MYT1):c.432C>A (p.Asn144Lys)	MYT1 (N144K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3170047	NM_004535.3(MYT1):c.436A>G (p.Ile146Val)	MYT1 (I146V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250231	NM_004535.3(MYT1):c.437T>C (p.Ile146Thr)	MYT1 (I146T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 748267	NM_004535.3(MYT1):c.438C>T (p.Ile146=)	MYT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2524910	NM_004535.3(MYT1):c.468C>A (p.Ser156Arg)	MYT1 (S156R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 734916	NM_004535.3(MYT1):c.477C>T (p.Ser159=)	MYT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2400805	NM_004535.3(MYT1):c.583G>A (p.Val195Met)	MYT1 (V195M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 975610	NM_004535.3(MYT1):c.655G>C (p.Glu219Gln)	MYT1 (E219Q)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 2215509	NM_004535.3(MYT1):c.673G>A (p.Val225Ile)	MYT1 (V225I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2310217	NM_004535.3(MYT1):c.692G>T (p.Arg231Leu)	MYT1 (R231L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298188	NM_004535.3(MYT1):c.713A>G (p.Gln238Arg)	MYT1 (Q238R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 799179	NM_004535.3(MYT1):c.717C>T (p.Ser239=)	MYT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 731299	NM_004535.3(MYT1):c.783C>T (p.Asp261=)	MYT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2308506	NM_004535.3(MYT1):c.784G>A (p.Glu262Lys)	MYT1 (E262K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258569	NM_004535.3(MYT1):c.789G>C (p.Glu263Asp)	MYT1 (E263D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 981907	NM_004535.3(MYT1):c.790G>C (p.Glu264Gln)	MYT1 (E264Q)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely pathogenic
Select item 782930	NM_004535.3(MYT1):c.807GGA[4] (p.Glu273del)	MYT1 (E273del)	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 2652567	NM_004535.3(MYT1):c.817G>A (p.Glu273Lys)	MYT1 (E273K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3037550	NM_004535.3(MYT1):c.861GGA[3] (p.Glu306del)	MYT1 (E306del)	Microsatellite	MYT1-related disorder	GLikely benign
Select item 714389	NM_004535.3(MYT1):c.865G>A (p.Glu289Lys)	MYT1 (E289K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2652568	NM_004535.3(MYT1):c.873A>G (p.Glu291=)	MYT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3038721	NM_004535.3(MYT1):c.886G>A (p.Glu296Lys)	MYT1 (E296K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 734219	NM_004535.3(MYT1):c.891AGAGGA[2] (p.Glu305_Glu306del)	MYT1	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 742479	NM_004535.3(MYT1):c.903A>G (p.Glu301=)	MYT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3170081	NM_004535.3(MYT1):c.976C>T (p.Pro326Ser)	MYT1 (P326S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169922	NM_004535.3(MYT1):c.1007C>T (p.Pro336Leu)	MYT1 (P336L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169927	NM_004535.3(MYT1):c.1039C>T (p.Arg347Cys)	MYT1 (R347C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3044263	NM_004535.3(MYT1):c.1059C>T (p.Asp353=)	MYT1	Single nucleotide variant (synonymous variant)	MYT1-related disorder	GLikely benign
Select item 769115	NM_004535.3(MYT1):c.1071C>A (p.His357Gln)	MYT1 (H357Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2378127	NM_004535.3(MYT1):c.1076G>A (p.Arg359Gln)	MYT1 (R359Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 793407	NM_004535.3(MYT1):c.1095C>T (p.Asp365=)	MYT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3169933	NM_004535.3(MYT1):c.1100C>T (p.Ser367Leu)	MYT1 (S367L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169939	NM_004535.3(MYT1):c.1124G>A (p.Arg375Gln)	MYT1 (R375Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3038108	NM_004535.3(MYT1):c.1161G>C (p.Leu387=)	MYT1	Single nucleotide variant (synonymous variant)	MYT1-related disorder	GBenign
Select item 3298180	NM_004535.3(MYT1):c.1177C>T (p.Arg393Cys)	MYT1 (R393C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 729546	NM_004535.3(MYT1):c.1285A>G (p.Ser429Gly)	MYT1 (S429G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2278253	NM_004535.3(MYT1):c.1438C>T (p.His480Tyr)	MYT1 (H480Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298181	NM_004535.3(MYT1):c.1580C>T (p.Pro527Leu)	MYT1 (P527L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280125	NM_004535.3(MYT1):c.1583A>C (p.Gln528Pro)	MYT1 (Q528P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 717969	NM_004535.3(MYT1):c.1623G>T (p.Arg541=)	MYT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 799706	NM_004535.3(MYT1):c.1662C>T (p.Val554=)	MYT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2323160	NM_004535.3(MYT1):c.1687A>G (p.Asn563Asp)	MYT1 (N563D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543022	NM_004535.3(MYT1):c.1709G>A (p.Arg570Lys)	MYT1 (R570K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294286	NM_004535.3(MYT1):c.1795A>G (p.Met599Val)	MYT1 (M599V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2572239	NM_004535.3(MYT1):c.1807A>G (p.Lys603Glu)	MYT1 (K603E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3298184	NM_004535.3(MYT1):c.1843C>A (p.Gln615Lys)	MYT1 (Q615K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2275386	NM_004535.3(MYT1):c.1858T>C (p.Ser620Pro)	MYT1 (S620P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298182	NM_004535.3(MYT1):c.1859C>T (p.Ser620Leu)	MYT1 (S620L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3053787	NM_004535.3(MYT1):c.1866C>T (p.Asp622=)	MYT1	Single nucleotide variant (synonymous variant)	MYT1-related disorder	GLikely benign
Select item 3040073	NM_004535.3(MYT1):c.1869C>T (p.Ala623=)	MYT1	Single nucleotide variant (synonymous variant)	MYT1-related disorder	GLikely benign
Select item 2472835	NM_004535.3(MYT1):c.1913C>T (p.Thr638Met)	MYT1 (T638M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169970	NM_004535.3(MYT1):c.1915C>T (p.Arg639Cys)	MYT1 (R639C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531451	NM_004535.3(MYT1):c.1916G>A (p.Arg639His)	MYT1 (R639H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315869	NM_004535.3(MYT1):c.1929G>A (p.Met643Ile)	MYT1 (M643I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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