4287[geneid] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 57811	GRCh38/hg38 14q32.11-32.13(chr14:90255156-95274696)x1	ASB2, ATXN3 +201 more	Copy number loss	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 more	Copy number gain	See cases	GPathogenic
Select item 2298598	NM_004993.6(ATXN3):c.1073A>G (p.Glu358Gly)	ATXN3 (E117G +7 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2401528	NM_004993.6(ATXN3):c.1060G>T (p.Asp354Tyr)	ATXN3 (D113Y +7 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3333159	NM_004993.6(ATXN3):c.1000A>G (p.Met334Val)	ATXN3 (M279V +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2644466	NM_004993.6(ATXN3):c.991+86T>C	ATXN3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2296081	NM_004993.6(ATXN3):c.947G>A (p.Cys316Tyr)	ATXN3 (C137Y +12 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3025693	NM_004993.6(ATXN3):c.916_917insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG (p.Gln305_Gly306insGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)	ATXN3	Insertion (inframe_insertion +2 more)	not provided	GLikely benign
Select item 2644467	NM_004993.6(ATXN3):c.916_917insAGCAGC (p.Gly306delinsGluGlnArg)	ATXN3	Insertion (inframe_indel +2 more)	not provided	GUncertain significance
Select item 1050063	NM_004993.6(ATXN3):c.916_917insCAGCAGCAGCAGCAGC (p.Gly306fs)	ATXN3 (G127fs +11 more)	Insertion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 402402	NM_004993.6(ATXN3):c.916_917insC (p.Gly306fs)	ATXN3 (G127fs +11 more)	Insertion (frameshift variant +1 more)	not provided +1 more	GUncertain significance
Select item 3055415	NM_004993.6(ATXN3):c.892CAG[16] (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGln)	ATXN3, LOC108663987	Microsatellite (inframe_indel +1 more)	ATXN3-related disorder	GBenign
Select item 2644469	NM_004993.6(ATXN3):c.892CAG[13] (p.Gln305_Gly306insGlnGlnGlnGlnGln)	ATXN3, LOC108663987	Microsatellite (inframe_insertion +2 more)	not provided	GBenign
Select item 2644468	NM_004993.6(ATXN3):c.892CAG[9] (p.Gln305_Gly306insGln)	ATXN3, LOC108663987	Microsatellite (inframe_insertion +2 more)	not provided	GLikely benign
Select item 1319061	NM_004993.6(ATXN3):c.892CAG[11] (p.Gln303_Gln305dup)	ATXN3, LOC108663987	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 1217546	NM_004993.6(ATXN3):c.916delinsCAGCAGCAGCAGCAGCAGC (p.Gly306delinsGlnGlnGlnGlnGlnGlnArg)	ATXN3	Indel (inframe_indel +1 more)	not provided	GUncertain significance
Select item 1209890	NM_004993.6(ATXN3):c.915_916insCAGCAGCAGCAGCAGCAGCA (p.Gly306fs)	ATXN3, LOC108663987 (G127fs +11 more)	Insertion (frameshift variant +1 more)	not specified	GBenign
Select item 1050497	NM_004993.6(ATXN3):c.915_916insCAGCAGCAGCAGCAGCA (p.Gly306fs)	ATXN3, LOC108663987 (G127fs +11 more)	Insertion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1050334	NM_004993.6(ATXN3):c.892CAG[17] (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGln)	ATXN3, LOC108663987	Microsatellite (inframe_insertion +1 more)	not provided	GBenign
Select item 1050299	NM_004993.6(ATXN3):c.915_916insCA (p.Gly306fs)	ATXN3, LOC108663987 (G127fs +11 more)	Insertion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1050021	NM_004993.6(ATXN3):c.892CAG[21] (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)	ATXN3, LOC108663987	Microsatellite (inframe_insertion +1 more)	not provided	GLikely benign
Select item 931861	NM_004993.6(ATXN3):c.892CAG[12] (p.Gln302_Gln305dup)	ATXN3, LOC108663987	Microsatellite (inframe_insertion +1 more)	Azorean disease	GBenign
Select item 599464	NM_004993.6(ATXN3):c.892CAG[10] (p.Gln304_Gln305dup)	LOC108663987, ATXN3	Microsatellite (inframe_insertion +1 more)	not specified	GBenign
Select item 218660	NM_004993.6(ATXN3):c.892CAG[18] (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)	ATXN3, LOC108663987	Microsatellite (inframe_insertion +1 more)	not specified	GBenign
Select item 210512	NM_004993.5(ATXN3):c.916delGins20 (p.?)	ATXN3	Indel	not specified	GUncertain significance
Select item 128515	NM_004993.6(ATXN3):c.916G>C (p.Gly306Arg)	ATXN3 (G306R +11 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3551	NM_004993.6(ATXN3):c.892CAG[8_36]	ATXN3, LOC108663987	Microsatellite	Parkinson disease, late-onset +1 more	GPathogenic; risk factor
Select item 3044058	NM_004993.6(ATXN3):c.891_905dup (p.Gln305_Gly306insGlnGlnGlnGlnGln)	ATXN3, LOC108663987	Duplication (inframe_indel +1 more)	ATXN3-related disorder	GBenign
Select item 3037422	NM_004993.6(ATXN3):c.891_892insG (p.Gln298fs)	ATXN3, LOC108663987 (Q119fs +11 more)	Insertion (frameshift variant +1 more)	ATXN3-related disorder	GBenign
Select item 1209878	NM_004993.6(ATXN3):c.890_891insGCAGCAGCAGCAGCAGCAGCAGC (p.Gln305fs)	ATXN3, LOC108663987 (Q126fs +11 more)	Insertion (frameshift variant +1 more)	not provided	GLikely benign
Select item 128514	NM_004993.6(ATXN3):c.891A>G (p.Gln297=)	ATXN3, LOC108663987 (T70A +4 more)	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 209995	NM_004993.5(ATXN3):c.886_888CAG(60_86) (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)	LOC108663987, ATXN3	Microsatellite	Azorean disease	GPathogenic
Select item 209994	NM_004993.5(ATXN3):c.886_888CAG(12_44) (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)	ATXN3, LOC108663987	Microsatellite	Azorean disease	GBenign
Select item 210511	NM_004993.6(ATXN3):c.882_884del (p.Lys295del)	ATXN3, LOC108663987 (K295del +11 more)	Deletion (inframe_deletion +1 more)	not specified +1 more	GUncertain significance
Select item 128513	NM_004993.6(ATXN3):c.883A>C (p.Lys295Gln)	ATXN3, LOC108663987 (K295Q +11 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 128512	NM_004993.6(ATXN3):c.882A>G (p.Gln294=)	ATXN3, LOC108663987 (K67E +4 more)	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2594231	NM_004993.6(ATXN3):c.854G>A (p.Arg285Gln)	ATXN3 (R106Q +7 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2357136	NM_004993.6(ATXN3):c.845G>A (p.Arg282Gln)	ATXN3 (R282Q +7 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2290392	NM_004993.6(ATXN3):c.782C>A (p.Ser261Tyr)	ATXN3 (S210Y +7 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1048571	NM_004993.6(ATXN3):c.776-3C>T	ATXN3	Single nucleotide variant (intron variant)	Tip-toe gait	GUncertain significance
Select item 3132258	NM_004993.6(ATXN3):c.724A>G (p.Met242Val)	ATXN3 (M172V +7 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2343283	NM_004993.6(ATXN3):c.672A>C (p.Glu224Asp)	ATXN3 (E173D +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2247768	NM_004993.6(ATXN3):c.644C>T (p.Ala215Val)	ATXN3 (A145V +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2247767	NM_004993.6(ATXN3):c.643G>C (p.Ala215Pro)	ATXN3 (A160P +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3052535	NM_004993.6(ATXN3):c.642A>G (p.Glu214=)	ATXN3	Single nucleotide variant (synonymous variant +2 more)	ATXN3-related disorder	GLikely benign
Select item 128511	NM_004993.6(ATXN3):c.634G>A (p.Val212Met)	ATXN3 (V212M +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2363340	NM_004993.6(ATXN3):c.583G>A (p.Glu195Lys)	ATXN3 (E16K +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3132257	NM_004993.6(ATXN3):c.574A>G (p.Ile192Val)	ATXN3 (I137V +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 128510	NM_004993.6(ATXN3):c.492C>T (p.Val164=)	ATXN3	Single nucleotide variant (synonymous variant +3 more)	not provided	GBenign
Select item 2368954	NM_004993.6(ATXN3):c.413C>T (p.Thr138Met)	ATXN3 (T123M +5 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 210510	NM_004993.6(ATXN3):c.357C>G (p.His119Gln)	ATXN3 (H119Q +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3132256	NM_004993.6(ATXN3):c.197C>T (p.Ser66Phe)	ATXN3 (S66F +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3046399	NM_004993.6(ATXN3):c.179C>T (p.Thr60Met)	ATXN3 (T60M)	Single nucleotide variant (missense variant +2 more)	ATXN3-related disorder	GLikely benign
Select item 2539458	NM_004993.6(ATXN3):c.17A>C (p.His6Pro)	ATXN3 (H6P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	IFI27L1, IGHA2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2570894	GRCh37/hg19 14q31.3-32.13(chr14:88401076-94725706)x1	ASB2, ATXN3 +48 more	Copy number loss	not provided	GPathogenic
Select item 2425566	NC_000014.8:g.(?_90429459)_(97347545_?)dup	SYNE3, TC2N +66 more	Duplication	not provided	GUncertain significance
Select item 2425046	NC_000014.8:g.(?_90429459)_(94856914_?)dup	ASB2, ATXN3 +42 more	Duplication	Achondrogenesis, type IA	GUncertain significance
Select item 1807775	GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3	ADSS1, AHNAK2 +185 more	Copy number gain	not provided	GPathogenic
Select item 1807735	GRCh37/hg19 14q31.1-32.2(chr14:81593708-97059276)x3	OTUB2, PAPOLA +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1527831	GRCh37/hg19 14q31.3-32.13(chr14:88345625-94773741)	ASB2, ATXN3 +50 more	Copy number loss	not specified	GPathogenic
Select item 813277	GRCh37/hg19 14q31.2-32.2(chr14:84783523-96907490)x1	SERPINA10, SERPINA11 +74 more	Copy number loss	Deletion syndrome	GPathogenic
Select item 687996	GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3	ATXN3, BAG5 +164 more	Copy number gain	not provided	GPathogenic
Select item 564136	GRCh37/hg19 14q31.2-32.2(chr14:84783137-96908198)x1	AK7, ASB2 +74 more	Copy number loss	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	ABCD4, ACOT1 +261 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic

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Items: 74