4287[geneid] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

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	ABCD4, ABHD12B +3281 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	ABCD4, ABHD12B +3276 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC132090296, LOC132090297 +1422 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	LOC130056647, LOC130056648 +1203 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056481, LOC130056482 +1072 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 specified +2 more	GConflicting classifications of pathogenicity
Select item 3055415	NM_004993.6(ATXN3):c.892CAG[16] (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGln)	ATXN3, LOC108663987	Microsatellite (inframe insertion +2 more)	ATXN3-related disorder	GBenign
Select item 2644469	NM_004993.6(ATXN3):c.892CAG[13] (p.Gln305_Gly306insGlnGlnGlnGlnGln)	LOC108663987, ATXN3	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)	ATXN3-related disorder	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 insertion +2 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 specified +2 more	GBenign/Likely 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)	LOC108663987, ATXN3 (K295Q +11 more)	Single nucleotide variant (missense variant +1 more)	ATXN3-related disorder +1 more	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 +1 more	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)	ATXN3-related disorder +1 more	GConflicting classifications of pathogenicity
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 specified	GLikely benign
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)	ATXN3-related disorder	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	SNHG10, TDP1 +66 more	Duplication	not provided	GUncertain significance
Select item 2425046	NC_000014.8:g.(?_90429459)_(94856914_?)dup	SLC24A4, TC2N +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 74