Related gene-specific medical variations for Gene (Select 5457) - ClinVar

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Items: 54

	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 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 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	GBenign
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	GBenign
Select item 2570869	NM_006237.4(POU4F1):c.325_326insTCC (p.His108_Gln109insLeu)	OBI1-AS1, POU4F1	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	GBenign
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 specified +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 1694707	NM_006237.4(POU4F1):c.706G>T (p.Ala236Ser)	OBI1-AS1, POU4F1 (A236S)	Single nucleotide variant (missense variant)	not specified +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 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 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 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 493133	NM_006237.4(POU4F1):c.133_134insC (p.Asn45fs)	OBI1-AS1, POU4F1 (N45fs)	Insertion (frameshift variant)	not provided	GUncertain significance

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Links from Gene

Items: 54