CHAMP1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +1557 more	Copy number gain	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	LOC130009917, LOC130009918 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	ARHGEF7-AS1, ARHGEF7-AS2 +1268 more	Copy number gain	See cases	GPathogenic
Select item 152729	GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3	LOC124946344, LOC124946345 +706 more	Copy number gain	See cases	GPathogenic
Select item 149780	GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3	LOC130010101, LOC130010102 +705 more	Copy number gain	See cases	GPathogenic
Select item 153403	GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3	ABCC4, ABHD13 +663 more	Copy number gain	See cases	GPathogenic
Select item 149290	GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1	ABCC4, ABHD13 +650 more	Copy number loss	See cases	GPathogenic
Select item 148008	GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)x3	ABCC4, ABHD13 +638 more	Copy number gain	See cases	GPathogenic
Select item 150277	GRCh38/hg38 13q32.1-34(chr13:96745059-114327106)x3	DOCK9-DT, EFNB2 +544 more	Copy number gain	See cases	GPathogenic
Select item 59924	GRCh38/hg38 13q32.3-34(chr13:100039860-114327173)x3	LOC132090158, LOC132090159 +395 more	Copy number gain	See cases	GPathogenic
Select item 57684	GRCh38/hg38 13q33.1-34(chr13:101537045-114327173)x1	ABHD13, ADPRHL1 +369 more	Copy number loss	See cases	GPathogenic
Select item 152824	GRCh38/hg38 13q33.1-34(chr13:101762788-114340285)x3	LOC130010172, LOC130010173 +367 more	Copy number gain	See cases	GPathogenic
Select item 57685	GRCh38/hg38 13q33.1-34(chr13:102114025-114327173)x1	GAS6-AS1, GAS6-DT +363 more	Copy number loss	See cases	GPathogenic
Select item 148757	GRCh38/hg38 13q33.1-34(chr13:102883322-114340331)x1	LOC121468007, LOC121838584 +339 more	Copy number loss	See cases	GPathogenic
Select item 57709	GRCh38/hg38 13q33.2-34(chr13:104461586-114327173)x1	ABHD13, ADPRHL1 +331 more	Copy number loss	See cases	GPathogenic
Select item 57710	GRCh38/hg38 13q33.2-34(chr13:104698508-114327173)x1	ABHD13, ADPRHL1 +331 more	Copy number loss	See cases	GPathogenic
Select item 155263	GRCh38/hg38 13q33.2-34(chr13:104968135-114340331)x1	ABHD13, ADPRHL1 +332 more	Copy number loss	See cases	GPathogenic
Select item 155489	GRCh38/hg38 13q33.2-34(chr13:105423935-114342258)x3	ABHD13, ADPRHL1 +325 more	Copy number gain	See cases	GUncertain significance
Select item 151756	GRCh38/hg38 13q33.2-34(chr13:105861075-114342258)x1	LOC116268457, LOC121468007 +321 more	Copy number loss	See cases	GPathogenic
Select item 57471	GRCh38/hg38 13q33.2-34(chr13:106157165-114327173)x1	ABHD13, ADPRHL1 +318 more	Copy number loss	See cases	GPathogenic
Select item 2579202	GRCh38/hg38 13q33.3-34(chr13:106425676-114326445)x1	LOC130010165, LOC130010166 +312 more	Copy number loss	Chromosome 13q33-q34 deletion syndrome	GPathogenic
Select item 148614	GRCh38/hg38 13q33.3-34(chr13:107075477-114340331)x1	ABHD13, ADPRHL1 +302 more	Copy number loss	See cases	GPathogenic
Select item 161056	GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x1	ABHD13, ADPRHL1 +286 more	Copy number loss	See cases	GPathogenic
Select item 33799	GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x1	ABHD13, ADPRHL1 +286 more	Copy number loss	See cases	GPathogenic
Select item 56998	GRCh38/hg38 13q33.3-34(chr13:108743171-114327173)x1	ADPRHL1, ANKRD10 +271 more	Copy number loss	See cases	GPathogenic
Select item 1338738	NC_000013.11:g.109179481_114327244del	LOC130010213, LOC130010214 +261 more	Deletion	Factor VII deficiency +1 more	GPathogenic
Select item 155035	GRCh38/hg38 13q34(chr13:110857896-114342258)x1	ADPRHL1, ANKRD10 +179 more	Copy number loss	See cases	GPathogenic
Select item 148303	GRCh38/hg38 13q34(chr13:111118651-114340331)x3	MCF2L, MCF2L-AS1 +158 more	Copy number gain	See cases	GLikely pathogenic
Select item 152704	GRCh38/hg38 13q34(chr13:111200986-114340331)x1	ADPRHL1, ARHGEF7 +149 more	Copy number loss	See cases	GPathogenic
Select item 148895	GRCh38/hg38 13q34(chr13:111355741-114340331)x1	ADPRHL1, ATP11A +143 more	Copy number loss	See cases	GPathogenic
Select item 59927	GRCh38/hg38 13q34(chr13:111439396-114327173)x3	ADPRHL1, ATP11A +141 more	Copy number gain	See cases	GPathogenic
Select item 1878430	Single allele	CDC16, CFAP97D2 +23 more	Deletion	See cases	GPathogenic
Select item 146256	GRCh38/hg38 13q34(chr13:114147230-114327173)x3	CDC16, CFAP97D2 +19 more	Copy number gain	See cases	GPathogenic
Select item 152990	GRCh38/hg38 13q34(chr13:114224886-114327173)x3	CDC16, CHAMP1 +16 more	Copy number gain	See cases	GBenign
Select item 146514	GRCh38/hg38 13q34(chr13:114298587-114327173)x1	CHAMP1, LOC124946348 +2 more	Copy number loss	See cases	GUncertain significance
Select item 3037367	NM_032436.4(CHAMP1):c.-11CAGA[1]	CHAMP1	Microsatellite (5 prime UTR variant)	CHAMP1-related disorder	GBenign
Select item 1013044	NM_032436.4(CHAMP1):c.22C>T (p.Arg8Cys)	CHAMP1 (R8C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3025022	NM_032436.4(CHAMP1):c.37C>T (p.Arg13Cys)	CHAMP1 (R13C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2362119	NM_032436.4(CHAMP1):c.38G>A (p.Arg13His)	CHAMP1 (R13H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 742575	NM_032436.4(CHAMP1):c.45G>A (p.Glu15=)	CHAMP1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1806448	NM_032436.4(CHAMP1):c.67G>A (p.Gly23Ser)	CHAMP1 (G23S)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 3040701	NM_032436.4(CHAMP1):c.81A>G (p.Glu27=)	CHAMP1	Single nucleotide variant (synonymous variant)	CHAMP1-related disorder	GLikely benign
Select item 3239594	NM_032436.4(CHAMP1):c.85G>A (p.Val29Ile)	CHAMP1 (V29I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 434756	NM_032436.4(CHAMP1):c.106A>T (p.Ile36Phe)	CHAMP1 (I36F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1309612	NM_032436.4(CHAMP1):c.108C>G (p.Ile36Met)	CHAMP1 (I36M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 930435	NM_032436.4(CHAMP1):c.170A>G (p.Lys57Arg)	CHAMP1 (K57R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 40	GUncertain significance
Select item 3039812	NM_032436.4(CHAMP1):c.315T>A (p.Pro105=)	CHAMP1	Single nucleotide variant (synonymous variant)	CHAMP1-related disorder	GLikely benign
Select item 3266792	NM_032436.4(CHAMP1):c.329C>G (p.Pro110Arg)	CHAMP1 (P110R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3024272	NM_032436.4(CHAMP1):c.343C>T (p.Gln115Ter)	CHAMP1 (Q115*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 40	GLikely pathogenic
Select item 2308633	NM_032436.4(CHAMP1):c.352C>T (p.Pro118Ser)	CHAMP1 (P118S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3234986	NM_032436.4(CHAMP1):c.364G>C (p.Ala122Pro)	CHAMP1 (A122P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 40	GUncertain significance
Select item 3266799	NM_032436.4(CHAMP1):c.374A>C (p.Lys125Thr)	CHAMP1 (K125T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 430233	NM_032436.4(CHAMP1):c.403C>T (p.Gln135Ter)	CHAMP1 (Q135*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3025830	NM_032436.4(CHAMP1):c.412G>C (p.Gly138Arg)	CHAMP1 (G138R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3253099	NM_032436.4(CHAMP1):c.446C>T (p.Thr149Ile)	CHAMP1 (T149I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025370	NM_032436.4(CHAMP1):c.446CTC[1] (p.Pro150del)	CHAMP1 (P150del)	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 1030238	NM_032436.4(CHAMP1):c.475C>T (p.Pro159Ser)	CHAMP1 (P159S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 40	GUncertain significance
Select item 2630845	NM_032436.4(CHAMP1):c.476C>T (p.Pro159Leu)	CHAMP1 (P159L)	Single nucleotide variant (missense variant)	CHAMP1-related disorder	GUncertain significance
Select item 3266796	NM_032436.4(CHAMP1):c.481T>G (p.Ser161Ala)	CHAMP1 (S161A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237265	NM_032436.4(CHAMP1):c.484G>T (p.Val162Phe)	CHAMP1 (V162F)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1703183	NM_032436.4(CHAMP1):c.490T>C (p.Ser164Pro)	CHAMP1 (S164P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1342539	NM_032436.4(CHAMP1):c.491C>T (p.Ser164Phe)	CHAMP1 (S164F)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 40	GUncertain significance
Select item 721121	NM_032436.4(CHAMP1):c.494C>T (p.Pro165Leu)	CHAMP1 (P165L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 728926	NM_032436.4(CHAMP1):c.516T>A (p.Pro172=)	CHAMP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 731051	NM_032436.4(CHAMP1):c.520_522del (p.Pro174del)	CHAMP1 (P174del)	Deletion (inframe_deletion)	not provided	GBenign/Likely benign
Select item 2483373	NM_032436.4(CHAMP1):c.523G>A (p.Glu175Lys)	CHAMP1 (E175K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 997692	NM_032436.4(CHAMP1):c.530_532delinsTTT (p.Ser177_Lys178delinsPheTer)	CHAMP1	Indel (nonsense)	Intellectual disability, autosomal dominant 40	GPathogenic
Select item 217909	NM_032436.4(CHAMP1):c.542_543del (p.Ser181fs)	CHAMP1 (S181fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 3144051	NM_032436.4(CHAMP1):c.574C>T (p.Pro192Ser)	CHAMP1 (P192S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1709765	NM_032436.4(CHAMP1):c.575_576del (p.Pro192fs)	CHAMP1 (P192fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 40	GLikely pathogenic
Select item 3345008	NM_032436.4(CHAMP1):c.576T>A (p.Pro192=)	CHAMP1	Single nucleotide variant (synonymous variant)	CHAMP1-related disorder	GLikely benign
Select item 3266797	NM_032436.4(CHAMP1):c.581G>A (p.Cys194Tyr)	CHAMP1 (C194Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 807056	NM_032436.4(CHAMP1):c.584A>G (p.Glu195Gly)	CHAMP1 (E195G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2395073	NM_032436.4(CHAMP1):c.587C>G (p.Ser196Cys)	CHAMP1 (S196C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144052	NM_032436.4(CHAMP1):c.598G>C (p.Ala200Pro)	CHAMP1 (A200P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3252551	NM_032436.4(CHAMP1):c.601C>A (p.Pro201Thr)	CHAMP1 (P201T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1701773	NM_032436.4(CHAMP1):c.613C>T (p.Pro205Ser)	CHAMP1 (P205S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 40	GUncertain significance
Select item 2254242	NM_032436.4(CHAMP1):c.622C>G (p.Gln208Glu)	CHAMP1 (Q208E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2439939	NM_032436.4(CHAMP1):c.628C>T (p.Pro210Ser)	CHAMP1 (P210S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 40	GUncertain significance
Select item 2644019	NM_032436.4(CHAMP1):c.632C>T (p.Ala211Val)	CHAMP1 (A211V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 208414	NM_032436.4(CHAMP1):c.635del (p.Pro212fs)	CHAMP1 (P212fs)	Deletion (frameshift variant)	intellectual disability with severe speech impairment	GPathogenic
Select item 1065455	NM_032436.4(CHAMP1):c.647_649dup (p.Ser217Ter)	CHAMP1 (S217*)	Duplication (nonsense)	Intellectual disability, autosomal dominant 40	GPathogenic
Select item 2300147	NM_032436.4(CHAMP1):c.652G>T (p.Val218Leu)	CHAMP1 (V218L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2373192	NM_032436.4(CHAMP1):c.658G>C (p.Ala220Pro)	CHAMP1 (A220P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 827777	NM_032436.4(CHAMP1):c.661dup (p.Thr221fs)	CHAMP1 (T221fs)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 40	GLikely pathogenic
Select item 756072	NM_032436.4(CHAMP1):c.675C>A (p.Pro225=)	CHAMP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 871658	NM_032436.4(CHAMP1):c.676A>T (p.Lys226Ter)	CHAMP1 (K226*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2392512	NM_032436.4(CHAMP1):c.677A>G (p.Lys226Arg)	CHAMP1 (K226R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1313248	NM_032436.4(CHAMP1):c.679C>G (p.Pro227Ala)	CHAMP1 (P227A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1481240	NM_032436.4(CHAMP1):c.692C>T (p.Ser231Phe)	CHAMP1 (S231F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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