1-Methyl-3-octylindan - ClinVar - NCBI

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The following term was not found in ClinVar: octylindan.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3520	NM_005957.5(MTHFR):c.665C>T (p.Ala222Val)	MTHFR (A222V +1 more)	Single nucleotide variant (missense variant)	methotrexate response - Toxicity	Gdrug response
Select item 2676033	NM_000191.3(HMGCL):c.521G>A (p.Cys174Tyr)	HMGCL (C174Y)	Single nucleotide variant (missense variant +1 more)	Deficiency of hydroxymethylglutaryl-CoA lyase	GConflicting classifications of pathogenicity
Select item 16110	NM_006516.4(SLC2A1):c.272G>A (p.Gly91Asp)	SLC2A1 (G91D)	Single nucleotide variant (missense variant)	Encephalopathy due to GLUT1 deficiency	GPathogenic
Select item 556123	NM_015506.3(MMACHC):c.275_278del (p.Glu92fs)	MMACHC (E92fs +1 more)	Microsatellite (frameshift variant)	Cobalamin C disease	GLikely pathogenic
Select item 1327464	NM_005518.4(HMGCS2):c.821G>A (p.Arg274His)	HMGCS2 (R232H +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2628076	NM_005518.4(HMGCS2):c.164G>A (p.Gly55Asp)	HMGCS2 (G55D)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely pathogenic
Select item 138289	NM_000254.3(MTR):c.2756A>G (p.Asp919Gly)	MTR (D919G +2 more)	Single nucleotide variant (missense variant)	Methylcobalamin deficiency type cblG +3 more	GBenign
Select item 146076	GRCh38/hg38 2q22.3-24.1(chr2:143900149-158321624)x3	ACVR1, ACVR1C +238 more	Copy number gain	See cases	GPathogenic
Select item 152517	GRCh38/hg38 2q22.3-23.2(chr2:145471053-149582570)x1	ACVR2A, EPC2 +54 more	Copy number loss	See cases	GPathogenic
Select item 154515	GRCh38/hg38 2q22.3-24.1(chr2:146324191-156219125)x3	ACVR2A, ARL5A +146 more	Copy number gain	See cases	GPathogenic
Select item 60216	GRCh38/hg38 2q22.3-24.1(chr2:147251948-157856378)x1	ACVR1, ACVR1C +189 more	Copy number loss	See cases	GPathogenic
Select item 146065	GRCh38/hg38 2q22.3-23.2(chr2:147473194-149279840)x3	ACVR2A, EPC2 +32 more	Copy number gain	See cases	GUncertain significance
Select item 60217	GRCh38/hg38 2q22.3-23.3(chr2:147590324-153496674)x1	ACVR2A, ARL5A +119 more	Copy number loss	See cases	GPathogenic
Select item 150047	GRCh38/hg38 2q22.3-23.1(chr2:147680433-148220153)x1	ACVR2A, LOC126806366 +7 more	Copy number loss	See cases	GLikely pathogenic
Select item 57146	GRCh38/hg38 2q22.3-23.1(chr2:147713771-148177277)x1	ACVR2A, LOC126806366 +7 more	Copy number loss	See cases	GLikely pathogenic
Select item 153625	GRCh38/hg38 2q22.3-23.1(chr2:147732899-148156266)x1	ACVR2A, LOC126806366 +7 more	Copy number loss	See cases	GPathogenic
Select item 154732	GRCh38/hg38 2q23.1(chr2:147969499-148102235)x3	LOC126806366, LOC129934887 +3 more	Copy number gain	See cases	GLikely benign
Select item 545246	NC_000002.12:g.(?_147990605)_(148350066_?)del	LOC126806366, LOC126806367 +4 more	Deletion	Schizophrenia	GPathogenic
Select item 2651401	NM_001378120.1(MBD5):c.-1114GCTACTGCTGCTGCT[3]	MBD5, ORC4	Microsatellite (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 154051	GRCh38/hg38 2q23.1(chr2:148052791-148429544)x3	LOC126806367, MBD5	Copy number gain	See cases	GUncertain significance
Select item 545247	NC_000002.12:g.(?_148139385)_(148242336_?)del	MBD5	Deletion	Schizophrenia	GPathogenic
Select item 545248	NC_000002.12:g.(?_148157591)_(148226058_?)del	MBD5	Deletion	Autism +1 more	GPathogenic
Select item 545249	NC_000002.12:g.(?_148158424)_(148226279_?)del	MBD5	Deletion	Schizophrenia	GPathogenic
Select item 545250	NC_000002.12:g.(?_148211972)_(148423169_?)del	LOC126806367, MBD5	Deletion	Schizophrenia	GPathogenic
Select item 148618	GRCh38/hg38 2q23.1(chr2:148440874-148677035)x3	EPC2, LOC129934889 +7 more	Copy number gain	See cases	GUncertain significance
Select item 198229	NM_001378120.1(MBD5):c.8G>T (p.Gly3Val)	MBD5 (G3V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1 +1 more	GUncertain significance
Select item 1675792	NM_001378120.1(MBD5):c.68del (p.Val23fs)	MBD5 (V23fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 943776	NM_001378120.1(MBD5):c.103C>A (p.Leu35Ile)	MBD5 (L35I)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant +1 more	GUncertain significance
Select item 468770	NM_001378120.1(MBD5):c.156A>G (p.Thr52=)	MBD5	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 206057	NM_001378120.1(MBD5):c.205A>G (p.Ile69Val)	MBD5 (I69V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 198891	NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu)	MBD5 (G79E)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 283003	NM_001378120.1(MBD5):c.258C>T (p.Thr86=)	MBD5	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3124053	NM_001378120.1(MBD5):c.316A>T (p.Ile106Phe)	MBD5 (I106F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 449658	NM_001378120.1(MBD5):c.422G>A (p.Arg141Gln)	MBD5 (R141Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1 +2 more	GConflicting classifications of pathogenicity
Select item 199148	NM_001378120.1(MBD5):c.599G>A (p.Arg200Gln)	MBD5 (R200Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 808808	NM_001378120.1(MBD5):c.643C>T (p.Arg215Cys)	MBD5 (R215C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 199149	NM_001378120.1(MBD5):c.692T>C (p.Ile231Thr)	MBD5 (I231T)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 536670	NM_001378120.1(MBD5):c.763C>T (p.Pro255Ser)	MBD5 (P255S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 871535	NM_001378120.1(MBD5):c.842A>G (p.His281Arg)	MBD5 (H281R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 206064	NM_001378120.1(MBD5):c.884C>G (p.Thr295Ser)	MBD5 (T295S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1 +2 more	GConflicting classifications of pathogenicity
Select item 206065	NM_001378120.1(MBD5):c.961A>G (p.Met321Val)	MBD5 (M321V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1 +2 more	GConflicting classifications of pathogenicity
Select item 199153	NM_001378120.1(MBD5):c.980T>C (p.Met327Thr)	MBD5 (M327T)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1 +1 more	GConflicting classifications of pathogenicity
Select item 835318	NM_001378120.1(MBD5):c.1017TCC[1] (p.Pro342del)	MBD5 (P342del)	Microsatellite (inframe_deletion)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 1298826	NM_001378120.1(MBD5):c.1165G>A (p.Val389Ile)	MBD5 (V389I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 871536	NM_001378120.1(MBD5):c.1180G>A (p.Val394Ile)	MBD5 (V394I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 546869	NM_001378120.1(MBD5):c.1326dup (p.Val443fs)	MBD5 (V443fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 138174	NM_001378120.1(MBD5):c.1368G>T (p.Ser456=)	MBD5	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 206112	NM_001378120.1(MBD5):c.1382G>A (p.Arg461His)	MBD5 (R461H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 546443	NM_001378120.1(MBD5):c.1470_1478del (p.490PRS[1])	MBD5	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1497390	NM_001378120.1(MBD5):c.1472G>C (p.Arg491Thr)	MBD5 (R491T)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1675793	NM_001378120.1(MBD5):c.1618G>C (p.Ala540Pro)	MBD5 (A540P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 199151	NM_001378120.1(MBD5):c.1638C>T (p.Ala546=)	MBD5	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1043473	NM_001378120.1(MBD5):c.1639G>A (p.Gly547Arg)	MBD5 (G547R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1 +1 more	GUncertain significance
Select item 624150	NM_001378120.1(MBD5):c.1784C>T (p.Ala595Val)	MBD5 (A595V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1339696	NM_001378120.1(MBD5):c.1850A>G (p.His617Arg)	MBD5 (H617R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 287556	NM_001378120.1(MBD5):c.2010C>G (p.Leu670=)	MBD5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 576869	NM_001378120.1(MBD5):c.2011A>G (p.Arg671Gly)	MBD5 (R671G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 932371	NM_001378120.1(MBD5):c.2074G>A (p.Gly692Ser)	MBD5 (G692S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1188414	NM_001378120.1(MBD5):c.2095A>C (p.Ser699Arg)	MBD5 (S699R)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 331336	NM_001378120.1(MBD5):c.2140C>G (p.His714Asp)	MBD5 (H714D)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1 +1 more	GUncertain significance
Select item 695541	NM_001378120.1(MBD5):c.2148T>C (p.Ser716=)	MBD5	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 1 +1 more	GLikely benign
Select item 378115	NM_001378120.1(MBD5):c.2254A>G (p.Ile752Val)	MBD5 (I752V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 808809	NM_001378120.1(MBD5):c.2288A>G (p.Asn763Ser)	MBD5 (N763S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2433663	NM_001378120.1(MBD5):c.2305G>A (p.Val769Ile)	MBD5 (V769I)	Single nucleotide variant (missense variant)	MBD5-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1694968	NM_001378120.1(MBD5):c.2330A>G (p.Asn777Ser)	MBD5 (N777S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 658811	NM_001378120.1(MBD5):c.2543T>G (p.Ile848Arg)	MBD5 (I848R)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 808810	NM_001378120.1(MBD5):c.2605G>T (p.Val869Phe)	MBD5 (V869F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 95901	NM_001378120.1(MBD5):c.2605G>A (p.Val869Ile)	MBD5 (V869I)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 808811	NM_001378120.1(MBD5):c.2658G>A (p.Gly886=)	MBD5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 808812	NM_001378120.1(MBD5):c.2794C>T (p.His932Tyr)	MBD5 (H932Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 206090	NM_001378120.1(MBD5):c.2828A>G (p.Gln943Arg)	MBD5 (Q943R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1694969	NM_001378120.1(MBD5):c.3169C>T (p.Pro1057Ser)	MBD5 (P1057S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1675794	NM_001378120.1(MBD5):c.3207C>T (p.Asn1069=)	MBD5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 833992	NM_001378120.1(MBD5):c.3578A>G (p.Asn1193Ser)	MBD5 (N960S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1 +1 more	GConflicting classifications of pathogenicity
Select item 206115	NM_001378120.1(MBD5):c.3678G>C (p.Gln1226His)	MBD5 (Q993H +1 more)	Single nucleotide variant (missense variant)	Bilateral tonic-clonic seizure +3 more	GConflicting classifications of pathogenicity
Select item 193911	NM_001378120.1(MBD5):c.3743A>G (p.Gln1248Arg)	MBD5 (Q1015R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 206053	NM_001378120.1(MBD5):c.3754-9T>C	MBD5	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 1 +2 more	GConflicting classifications of pathogenicity
Select item 762780	NM_001378120.1(MBD5):c.3786C>T (p.Asn1262=)	MBD5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 206095	NM_001378120.1(MBD5):c.3842C>T (p.Thr1281Ile)	MBD5 (T1048I +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 279846	NM_001378120.1(MBD5):c.3952G>A (p.Val1318Ile)	MBD5 (V1085I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 206054	NM_001378120.1(MBD5):c.4401C>T (p.Val1467=)	MBD5	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 1 +3 more	GBenign/Likely benign
Select item 808813	NM_001378120.1(MBD5):c.4419G>T (p.Leu1473=)	MBD5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 206105	NM_001378120.1(MBD5):c.4466G>A (p.Gly1489Glu)	MBD5 (G1256E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 808814	NM_001378120.1(MBD5):c.4516A>G (p.Met1506Val)	MBD5 (M1273V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1675795	NM_001378120.1(MBD5):c.4557A>G (p.Arg1519=)	MBD5	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 1 +1 more	GLikely benign
Select item 808815	NM_001378120.1(MBD5):c.4581A>G (p.Arg1527=)	MBD5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1012465	NM_001378120.1(MBD5):c.4713A>G (p.Gly1571=)	MBD5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 871537	NM_001378120.1(MBD5):c.4809dup (p.Ser1604fs)	MBD5 (S1371fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 561057	NM_001378120.1(MBD5):c.4934C>A (p.Ser1645Ter)	MBD5 (S1412* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 1	GPathogenic
Select item 435826	NM_001378120.1(MBD5):c.4970C>A (p.Pro1657His)	MBD5 (P1424H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 3339471	NC_000002.11:g.(148779254_148936268)_(149099906_149215771)del	MBD5	Deletion	not specified	GUncertain significance
Select item 3062637	GRCh37/hg19 2q22.3-23.1(chr2:148646132-148829749)x1	ACVR2A, MBD5 +1 more	Copy number loss	not specified	GPathogenic
Select item 3062608	GRCh37/hg19 2q21.2-23.2(chr2:134589311-149951291)x3	ACMSD, ACVR2A +26 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684742	GRCh37/hg19 2q22.3-23.3(chr2:148406827-152954124)x1	ACVR2A, ARL5A +13 more	Copy number loss	not provided	GPathogenic
Select item 1809198	GRCh37/hg19 2q23.1(chr2:148954841-149100457)x3	MBD5	Copy number gain	not provided	GUncertain significance
Select item 1807661	GRCh37/hg19 2q23.1(chr2:148995224-149294556)x3	MBD5	Copy number gain	not provided	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1703533	GRCh37/hg19 2q22.3-23.1(chr2:148698834-148954778)	MBD5, ORC4	Copy number loss	Intellectual disability, autosomal dominant 1	GPathogenic
Select item 1526917	GRCh37/hg19 2q23.1-23.3(chr2:148954840-150800195)	EPC2, LYPD6 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1526910	GRCh37/hg19 2q22.3-23.1(chr2:148698523-148900148)	MBD5, ORC4	Copy number loss	not specified	GPathogenic

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