ClinVar for Gene (Select 4661) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3170081	NM_004535.3(MYT1):c.976C>T (p.Pro326Ser)	MYT1 (P326S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3170047	NM_004535.3(MYT1):c.436A>G (p.Ile146Val)	MYT1 (I146V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3170033	NM_004535.3(MYT1):c.3130G>A (p.Glu1044Lys)	MYT1 (E1044K)	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 3170013	NM_004535.3(MYT1):c.2261C>G (p.Ser754Cys)	MYT1 (S754C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3170010	NM_004535.3(MYT1):c.2170C>T (p.Arg724Cys)	MYT1 (R724C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169997	NM_004535.3(MYT1):c.2119A>G (p.Thr707Ala)	MYT1 (T707A)	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 3169944	NM_004535.3(MYT1):c.112T>G (p.Ser38Ala)	MYT1 (S38A)	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 3169933	NM_004535.3(MYT1):c.1100C>T (p.Ser367Leu)	MYT1 (S367L)	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 3169922	NM_004535.3(MYT1):c.1007C>T (p.Pro336Leu)	MYT1 (P336L)	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 3056309	NM_004535.3(MYT1):c.2739C>T (p.Ser913=)	MYT1	Single nucleotide variant (synonymous variant)	MYT1-related disorder	GBenign
Select item 3055989	NM_004535.3(MYT1):c.3213C>T (p.Leu1071=)	MYT1	Single nucleotide variant (synonymous variant)	MYT1-related disorder	GBenign
Select item 3054773	NM_004535.3(MYT1):c.*305G>T	MYT1	Single nucleotide variant (3 prime UTR variant)	MYT1-related disorder	GLikely benign
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 3052983	NM_004535.3(MYT1):c.117G>A (p.Gly39=)	MYT1	Single nucleotide variant (synonymous variant)	MYT1-related disorder	GLikely benign
Select item 3050284	NM_004535.3(MYT1):c.2835C>T (p.Thr945=)	MYT1	Single nucleotide variant (synonymous variant)	MYT1-related disorder	GLikely benign
Select item 3048490	NM_004535.3(MYT1):c.2130C>T (p.Pro710=)	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 3046928	NM_004535.3(MYT1):c.2868C>T (p.His956=)	MYT1	Single nucleotide variant (synonymous variant)	MYT1-related disorder	GLikely benign
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 3041098	NM_004535.3(MYT1):c.192C>T (p.Gly64=)	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 3040051	NM_004535.3(MYT1):c.3057G>A (p.Ser1019=)	MYT1	Single nucleotide variant (synonymous variant)	MYT1-related disorder	GLikely benign
Select item 3038828	NM_004535.3(MYT1):c.2796G>A (p.Ser932=)	MYT1	Single nucleotide variant (synonymous variant)	MYT1-related disorder	GLikely benign
Select item 3038721	NM_004535.3(MYT1):c.886G>A (p.Glu296Lys)	MYT1 (E296K)	Single nucleotide variant (missense variant)	MYT1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3038234	NM_004535.3(MYT1):c.2345C>G (p.Thr782Ser)	MYT1 (T782S)	Single nucleotide variant (missense variant)	MYT1-related disorder	GBenign
Select item 3038108	NM_004535.3(MYT1):c.1161G>C (p.Leu387=)	MYT1	Single nucleotide variant (synonymous variant)	MYT1-related disorder	GBenign
Select item 3037550	NM_004535.3(MYT1):c.861GGA[3] (p.Glu306del)	MYT1 (E306del)	Microsatellite (inframe deletion)	MYT1-related disorder	GLikely benign
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 3035083	NM_004535.3(MYT1):c.397+10C>T	MYT1	Single nucleotide variant (intron variant)	MYT1-related disorder	GLikely benign
Select item 2685653	GRCh37/hg19 20q13.33(chr20:62347562-62915555)x1	ABHD16B, DNAJC5 +17 more	Copy number loss	not provided	GUncertain significance
Select item 2652568	NM_004535.3(MYT1):c.873A>G (p.Glu291=)	MYT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2612658	NM_004535.3(MYT1):c.232C>G (p.Pro78Ala)	MYT1 (P78A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580344	GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3	ABHD16B, ADRM1 +113 more	Copy number gain	See cases	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 2559808	NM_004535.3(MYT1):c.2537C>T (p.Thr846Met)	MYT1 (T846M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545748	NM_004535.3(MYT1):c.2138C>A (p.Ser713Tyr)	MYT1 (S713Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545747	NM_004535.3(MYT1):c.2137T>A (p.Ser713Thr)	MYT1 (S713T)	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 2534835	NM_004535.3(MYT1):c.3214G>A (p.Ala1072Thr)	MYT1 (A1072T)	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 2528492	NM_004535.3(MYT1):c.2095G>A (p.Asp699Asn)	MYT1 (D699N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524910	NM_004535.3(MYT1):c.468C>A (p.Ser156Arg)	MYT1 (S156R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 2462991	NM_004535.3(MYT1):c.379C>T (p.Arg127Cys)	MYT1 (R127C)	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 2457740	NM_004535.3(MYT1):c.125G>A (p.Arg42Gln)	MYT1 (R42Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2387096	NM_004535.3(MYT1):c.2081G>A (p.Gly694Asp)	MYT1 (G694D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2378127	NM_004535.3(MYT1):c.1076G>A (p.Arg359Gln)	MYT1 (R359Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2337641	NM_004535.3(MYT1):c.2984G>A (p.Ser995Asn)	MYT1 (S995N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2315869	NM_004535.3(MYT1):c.1929G>A (p.Met643Ile)	MYT1 (M643I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2308506	NM_004535.3(MYT1):c.784G>A (p.Glu262Lys)	MYT1 (E262K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2302567	NM_004535.3(MYT1):c.1973C>G (p.Ser658Cys)	MYT1 (S658C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2294286	NM_004535.3(MYT1):c.1795A>G (p.Met599Val)	MYT1 (M599V)	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 2278253	NM_004535.3(MYT1):c.1438C>T (p.His480Tyr)	MYT1 (H480Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2266635	NM_004535.3(MYT1):c.3191G>A (p.Ser1064Asn)	MYT1 (S1064N)	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 2250231	NM_004535.3(MYT1):c.437T>C (p.Ile146Thr)	MYT1 (I146T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239897	NM_004535.3(MYT1):c.3278C>A (p.Thr1093Asn)	MYT1 (T1093N)	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 2216077	NM_004535.3(MYT1):c.2083G>A (p.Val695Met)	MYT1 (V695M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1808258	GRCh37/hg19 20q13.33(chr20:60621074-62915555)x3	ABHD16B, ADRM1 +63 more	Copy number gain	not provided	GUncertain significance
Select item 1526699	GRCh37/hg19 20q13.33(chr20:61619222-62915555)	ABHD16B, ARFGAP1 +38 more	Copy number loss	not specified	GPathogenic
Select item 1526698	GRCh37/hg19 20q13.33(chr20:61003263-62915555)	ABHD16B, ARFGAP1 +51 more	Copy number loss	not specified	GPathogenic
Select item 1526695	GRCh37/hg19 20q13.33(chr20:60473339-62915555)	OGFR, OPRL1 +64 more	Copy number gain	not specified	GUncertain significance
Select item 1526694	GRCh37/hg19 20q13.32-13.33(chr20:56835739-62915555)	LAMA5, LIME1 +88 more	Copy number gain	not specified	GPathogenic
Select item 1340670	GRCh37/hg19 20q13.33(chr20:61775756-62915555)x1	ABHD16B, ARFGAP1 +35 more	Copy number loss	not provided	GPathogenic
Select item 1326336	GRCh37/hg19 20q13.33(chr20:61038552-62907579)	HELZ2, DIDO1 +51 more	Copy number loss	Seizures, benign familial neonatal, 1 +1 more	GLikely pathogenic
Select item 1326335	GRCh37/hg19 20q13.33(chr20:61273854-62907579)	PCMTD2, SAMD10 +47 more	Copy number loss	Seizures, benign familial neonatal, 1 +1 more	GLikely pathogenic
Select item 1294003	NM_004535.3(MYT1):c.87-6C>T	MYT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240456	NM_004535.3(MYT1):c.1941C>T (p.Leu647=)	MYT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1180535	GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3	GATA5, ZBTB46 +116 more	Copy number gain	not provided	GPathogenic
Select item 1065843	NM_004535.3(MYT1):c.2126C>T (p.Ala709Val)	MYT1 (A709V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GAffects
Select item 996707	NM_004535.3(MYT1):c.2138C>T (p.Ser713Phe)	MYT1 (S713F)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
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 979739	GRCh37/hg19 20q13.33(chr20:62576747-62915555)x3	PRPF6, TCEA2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 979738	GRCh37/hg19 20q13.33(chr20:61975605-62915555)x1	ARFRP1, DNAJC5 +30 more	Copy number loss	not provided	GPathogenic
Select item 975612	NM_004535.3(MYT1):c.2460C>A (p.Ser820Arg)	MYT1 (S820R)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely 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 975610	NM_004535.3(MYT1):c.655G>C (p.Glu219Gln)	MYT1 (E219Q)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 816139	GRCh37/hg19 20q13.33(chr20:62678394-62884479)x3	LKAAEAR1, MYT1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 816137	GRCh37/hg19 20q13.33(chr20:61152321-62915555)x1	ABHD16B, ARFGAP1 +49 more	Copy number loss	not provided	GPathogenic
Select item 799706	NM_004535.3(MYT1):c.1662C>T (p.Val554=)	MYT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 799179	NM_004535.3(MYT1):c.717C>T (p.Ser239=)	MYT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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