ClinVar for Gene (Select 5457) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3216948	NM_006237.4(POU4F1):c.850G>T (p.Val284Leu)	OBI1-AS1, POU4F1 (V284L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216947	NM_006237.4(POU4F1):c.780C>G (p.Asp260Glu)	OBI1-AS1, POU4F1 (D260E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216945	NM_006237.4(POU4F1):c.648C>A (p.His216Gln)	OBI1-AS1, POU4F1 (H216Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216944	NM_006237.4(POU4F1):c.299A>T (p.His100Leu)	OBI1-AS1, POU4F1 (H100L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216943	NM_006237.4(POU4F1):c.227T>A (p.Phe76Tyr)	OBI1-AS1, POU4F1 (F76Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216942	NM_006237.4(POU4F1):c.1039C>T (p.Pro347Ser)	OBI1-AS1, POU4F1 (P347S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067320	NM_006237.4(POU4F1):c.351G>C (p.Leu117=)	OBI1-AS1, POU4F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3067200	NM_006237.4(POU4F1):c.846G>A (p.Leu282=)	OBI1-AS1, POU4F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3066101	NM_006237.4(POU4F1):c.1234C>T (p.Arg412Trp)	POU4F1, OBI1-AS1 (R412W)	Single nucleotide variant (missense variant)	Ataxia, intention tremor, and hypotonia syndrome, childhood-onset	GUncertain significance
Select item 3066039	NM_006237.4(POU4F1):c.124-9C>A	OBI1-AS1, POU4F1	Single nucleotide variant (intron variant)	Ataxia, intention tremor, and hypotonia syndrome, childhood-onset	GLikely pathogenic
Select item 3063601	NM_006237.4(POU4F1):c.679G>A (p.Gly227Ser)	OBI1-AS1, POU4F1 (G227S)	Single nucleotide variant (missense variant)	Ataxia, intention tremor, and hypotonia syndrome, childhood-onset	GUncertain significance
Select item 3063284	GRCh37/hg19 13q21.1-31.3(chr13:56450978-93582180)x1	ACOD1, ATXN8OS +49 more	Copy number loss	not specified	GPathogenic
Select item 3063280	GRCh37/hg19 13q21.31-33.1(chr13:64825656-103641349)x1	ABCC4, ACOD1 +81 more	Copy number loss	not specified	GPathogenic
Select item 3063279	GRCh37/hg19 13q14.2-32.2(chr13:49547974-98214905)x1	ABCC4, ACOD1 +102 more	Copy number loss	not specified	GPathogenic
Select item 3043923	NM_006237.4(POU4F1):c.472_486del (p.Gly158_Gly162del)	OBI1-AS1, POU4F1	Deletion (inframe deletion)	POU4F1-related disorder	GLikely benign
Select item 3037892	NM_006237.4(POU4F1):c.123+8C>T	OBI1-AS1, POU4F1	Single nucleotide variant (intron variant)	POU4F1-related disorder	GLikely benign
Select item 3032204	NM_006237.4(POU4F1):c.798C>T (p.Arg266=)	OBI1-AS1, POU4F1	Single nucleotide variant (synonymous variant)	POU4F1-related disorder	GLikely benign
Select item 3026144	NM_006237.4(POU4F1):c.516G>C (p.Gly172=)	OBI1-AS1, POU4F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2787879	NM_006237.4(POU4F1):c.478GGC[4] (p.Gly162_Pro163insGly)	POU4F1, OBI1-AS1	Microsatellite (inframe_insertion)	not provided	GBenign
Select item 2685473	GRCh37/hg19 13q21.33-33.1(chr13:73132193-104595598)x1	ABCC4, ACOD1 +78 more	Copy number loss	not provided	GPathogenic
Select item 2684705	GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3	ABCC4, ABHD13 +121 more	Copy number gain	not provided	GPathogenic
Select item 2684703	GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3	ABCC4, ABHD13 +129 more	Copy number gain	not provided	GPathogenic
Select item 2672547	NM_006237.4(POU4F1):c.402_428del (p.Gly135_Ala143del)	OBI1-AS1, POU4F1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2672242	NM_006237.4(POU4F1):c.445G>A (p.Gly149Ser)	OBI1-AS1, POU4F1 (G149S)	Single nucleotide variant (missense variant)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GUncertain significance
Select item 2643871	NM_006237.4(POU4F1):c.136C>T (p.Leu46Phe)	OBI1-AS1, POU4F1 (L46F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2643870	NM_006237.4(POU4F1):c.300CCA[10] (p.His108_Gln109insHis)	OBI1-AS1, POU4F1	Microsatellite (inframe_insertion)	not provided	GLikely benign
Select item 2643869	NM_006237.4(POU4F1):c.498C>A (p.Gly166=)	OBI1-AS1, POU4F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643868	NM_006237.4(POU4F1):c.539G>T (p.Gly180Val)	OBI1-AS1, POU4F1 (G180V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2643867	NM_006237.4(POU4F1):c.594C>A (p.His198Gln)	OBI1-AS1, POU4F1 (H198Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2643866	NM_006237.4(POU4F1):c.753C>T (p.Gly251=)	OBI1-AS1, POU4F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643865	NM_006237.4(POU4F1):c.888C>G (p.Leu296=)	OBI1-AS1, POU4F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643864	NM_006237.4(POU4F1):c.1038G>A (p.Lys346=)	OBI1-AS1, POU4F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2573972	NM_006237.4(POU4F1):c.365C>A (p.Ser122Ter)	POU4F1, OBI1-AS1 (S122*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2570870	NM_006237.4(POU4F1):c.283A>G (p.Thr95Ala)	OBI1-AS1, POU4F1 (T95A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2570869	NM_006237.4(POU4F1):c.325_326insTCC (p.His108_Gln109insLeu)	POU4F1, OBI1-AS1	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 2570868	NM_006237.4(POU4F1):c.416GCG[5] (p.Gly142_Ala143insGly)	OBI1-AS1, POU4F1	Microsatellite (inframe_insertion)	not provided	GLikely benign
Select item 2544222	NM_006237.4(POU4F1):c.1021C>A (p.Arg341Ser)	OBI1-AS1, POU4F1 (R341S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525678	NM_006237.4(POU4F1):c.622A>C (p.Met208Leu)	OBI1-AS1, POU4F1 (M208L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519960	NM_006237.4(POU4F1):c.304C>T (p.His102Tyr)	OBI1-AS1, POU4F1 (H102Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506790	NM_006237.4(POU4F1):c.840C>G (p.Ile280Met)	OBI1-AS1, POU4F1 (I280M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2496152	NM_006237.4(POU4F1):c.752G>A (p.Gly251Asp)	OBI1-AS1, POU4F1 (G251D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2446056	NM_006237.4(POU4F1):c.115dup (p.Thr39fs)	OBI1-AS1, POU4F1 (T39fs)	Duplication (frameshift variant)	Ataxia, intention tremor, and hypotonia syndrome, childhood-onset	GPathogenic
Select item 2330803	NM_006237.4(POU4F1):c.82A>G (p.Ser28Gly)	OBI1-AS1, POU4F1 (S28G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313340	NM_006237.4(POU4F1):c.8C>A (p.Ser3Tyr)	OBI1-AS1, POU4F1 (S3Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290362	NM_006237.4(POU4F1):c.630G>A (p.Met210Ile)	OBI1-AS1, POU4F1 (M210I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232505	NM_006237.4(POU4F1):c.1191C>G (p.Asn397Lys)	OBI1-AS1, POU4F1 (N397K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1879261	NM_006237.4(POU4F1):c.11T>G (p.Met4Arg)	OBI1-AS1, POU4F1 (M4R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1878732	NM_006237.4(POU4F1):c.394G>C (p.Gly132Arg)	POU4F1, OBI1-AS1 (G132R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807731	GRCh37/hg19 13q22.1-34(chr13:75268539-115107733)x3	ABCC4, ABHD13 +116 more	Copy number gain	not provided	GPathogenic
Select item 1807668	GRCh37/hg19 13q31.1(chr13:79099535-80675355)x3	NDFIP2, OBI1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	CCDC169-SOHLH2, CCDC70 +332 more	Copy number gain	not provided	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	PCID2, PCOTH +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1694707	NM_006237.4(POU4F1):c.706G>T (p.Ala236Ser)	OBI1-AS1, POU4F1 (A236S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1675527	NM_006237.4(POU4F1):c.101_104dup (p.Cys36fs)	OBI1-AS1, POU4F1 (C36fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1675526	NM_006237.4(POU4F1):c.1122C>T (p.Phe374=)	OBI1-AS1, POU4F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1527785	GRCh37/hg19 13q22.3-34(chr13:78514567-115107733)	ITGBL1, LAMP1 +104 more	Copy number gain	not specified	GPathogenic
Select item 1527784	GRCh37/hg19 13q22.2-31.2(chr13:75574661-87784831)	ACOD1, CLN5 +18 more	Copy number loss	not specified	GPathogenic
Select item 1527778	GRCh37/hg19 13q21.2-31.1(chr13:61686543-83302092)	ACOD1, ATXN8OS +29 more	Copy number loss	not specified	GPathogenic
Select item 1527777	GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)	ABCC4, ABHD13 +129 more	Copy number gain	not specified	GPathogenic
Select item 1527771	GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698)	ACOD1, AKAP11 +120 more	Copy number loss	not specified	GPathogenic
Select item 1527766	GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753)	CLN5, CNMD +147 more	Copy number loss	not specified	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, DNAJC15 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	ZMYM5, SPATA13 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341277	GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3	DCT, DGKH +175 more	Copy number gain	not provided	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ARGLU1, FBXL3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1341055	GRCh37/hg19 13q21.1-31.2(chr13:59574760-89410027)x1	ACOD1, ATXN8OS +35 more	Copy number loss	not provided	GPathogenic
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	MRPL57, MRPS31 +332 more	Copy number gain	See cases	GPathogenic
Select item 1178627	NM_006237.4(POU4F1):c.302_309dup (p.His104fs)	OBI1-AS1, POU4F1 (H104fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1162303	NM_006237.4(POU4F1):c.271_281del (p.Thr91fs)	OBI1-AS1, POU4F1 (T91fs)	Deletion (frameshift variant)	Ataxia, intention tremor, and hypotonia syndrome, childhood-onset	GPathogenic
Select item 1162302	NM_006237.4(POU4F1):c.283_290del (p.Thr95fs)	OBI1-AS1, POU4F1 (T95fs)	Deletion (frameshift variant)	Ataxia, intention tremor, and hypotonia syndrome, childhood-onset	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	DGKH, DHRS12 +332 more	Copy number gain	See cases	GPathogenic
Select item 985578	NM_006237.4(POU4F1):c.1105T>C (p.Ser369Pro)	OBI1-AS1, POU4F1 (S369P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985006	NM_006237.4(POU4F1):c.1030del (p.Lys343_Met344insTer)	OBI1-AS1, POU4F1	Deletion (nonsense)	Inborn genetic diseases	GUncertain significance
Select item 973050	NM_006237.4(POU4F1):c.917A>G (p.Gln306Arg)	POU4F1, OBI1-AS1 (Q306R)	Single nucleotide variant (missense variant)	Ataxia, intention tremor, and hypotonia syndrome, childhood-onset	GPathogenic
Select item 973028	NM_006237.4(POU4F1):c.158_161dup (p.Leu55fs)	OBI1-AS1, POU4F1 (L55fs)	Duplication (frameshift variant)	Ataxia, intention tremor, and hypotonia syndrome, childhood-onset	GPathogenic
Select item 815600	GRCh37/hg19 13q21.33-31.1(chr13:71502357-86571730)x1	KLF12, DIS3 +27 more	Copy number loss	not provided	GPathogenic
Select item 815590	GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1	ABCC4, ABHD13 +142 more	Copy number loss	not provided	GPathogenic
Select item 815587	GRCh37/hg19 13q14.3-31.3(chr13:51512603-91631111)x1	KLF5, KLHL1 +62 more	Copy number loss	not provided	GPathogenic
Select item 729185	NM_006237.4(POU4F1):c.123+7G>T	OBI1-AS1, POU4F1	Single nucleotide variant (intron variant)	POU4F1-related disorder +1 more	GLikely benign
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 687326	GRCh37/hg19 13q21.2-34(chr13:61775567-115107733)x3	ABCC4, ABHD13 +129 more	Copy number gain	not provided	GPathogenic
Select item 684938	GRCh37/hg19 13q31.1(chr13:79164755-80568672)x1	OBI1, POU4F1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 564082	GRCh37/hg19 13q22.3-34(chr13:78590089-115107733)x3	ABCC4, ABHD13 +103 more	Copy number gain	not provided	GPathogenic
Select item 564079	GRCh37/hg19 13q22.2-31.3(chr13:76942604-90660121)x1	ACOD1, CLN5 +15 more	Copy number loss	not provided	GPathogenic
Select item 545122	NC_000013.11:g.46968080_87381985del40413906	ACOD1, ALG11 +530 more	Deletion	Chromosome 13q14 deletion syndrome	GPathogenic
Select item 503586	GRCh37/hg19 13q22.1-31.3(chr13:74459395-93481294)x1	OBI1, POU4F1 +31 more	Copy number loss	See cases	GPathogenic
Select item 493133	NM_006237.4(POU4F1):c.133_134insC (p.Asn45fs)	OBI1-AS1, POU4F1 (N45fs)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 443522	GRCh37/hg19 13q14.3-32.1(chr13:53932358-96586363)x3	ABCC4, ACOD1 +60 more	Copy number gain	See cases	GPathogenic
Select item 442796	GRCh37/hg19 13q21.1-34(chr13:56431743-115107733)	ABCC4, ABHD13 +137 more	Copy number gain	See cases	GPathogenic
Select item 441765	GRCh37/hg19 13q11-34(chr13:19436287-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 441764	GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3	HTR2A, IFT88 +332 more	Copy number gain	See cases	GPathogenic
Select item 441662	GRCh37/hg19 13q21.33-34(chr13:71871468-115107733)x4	CDC16, COMMD6 +125 more	Copy number gain	See cases	GPathogenic
Select item 395478	GRCh37/hg19 13q14.3-33.3(chr13:53551300-109850651)x1	ABCC4, ABHD13 +102 more	Copy number loss	See cases	GPathogenic
Select item 394747	GRCh37/hg19 13q22.3-31.1(chr13:77455170-81099829)x1	ACOD1, CLN5 +11 more	Copy number loss	See cases	GPathogenic
Select item 394462	GRCh37/hg19 13q12.11-34(chr13:19571503-115092510)	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 394318	GRCh37/hg19 13q21.33-31.1(chr13:72174742-82221361)x1	ACOD1, BORA +25 more	Copy number loss	See cases	GPathogenic
Select item 253533	GRCh37/hg19 13q21.33-31.2(chr13:72013791-88021559)x1	SLAIN1, POU4F1 +27 more	Copy number loss	See cases	GPathogenic
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic

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