CHCHD10[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 59279	GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3	LOC130067034, LOC130067035 +535 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	See cases	GPathogenic
Select item 147737	GRCh38/hg38 22q11.21-11.23(chr22:20726972-24197852)x1	AIFM3, BCR +265 more	Copy number loss	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 149700	GRCh38/hg38 22q11.21-11.23(chr22:21207181-24247140)x3	BCR, C22orf15 +229 more	Copy number gain	See cases	GUncertain significance
Select item 59252	GRCh38/hg38 22q11.21-11.23(chr22:21443815-24235645)x1	BCR, C22orf15 +223 more	Copy number loss	See cases	GPathogenic
Select item 148615	GRCh38/hg38 22q11.21-11.23(chr22:21454661-24247140)x1	BCR, C22orf15 +223 more	Copy number loss	See cases	GPathogenic
Select item 59264	GRCh38/hg38 22q11.21-11.23(chr22:21457690-24220231)x1	BCR, C22orf15 +222 more	Copy number loss	See cases	GPathogenic
Select item 59267	GRCh38/hg38 22q11.21-11.23(chr22:21562911-24307688)x1	BCR, C22orf15 +227 more	Copy number loss	See cases	GPathogenic
Select item 545272	Single allele	DDTL, DERL3 +164 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 155683	GRCh38/hg38 22q11.22-11.23(chr22:22655333-24647020)x3	ADORA2A, ADORA2A-AS1 +163 more	Copy number gain	See cases	GUncertain significance
Select item 154068	GRCh38/hg38 22q11.22-11.23(chr22:22655333-24630890)x3	ADORA2A, ADORA2A-AS1 +163 more	Copy number gain	See cases	GUncertain significance
Select item 153611	GRCh38/hg38 22q11.22-11.23(chr22:22655333-24663664)x3	ADORA2A, ADORA2A-AS1 +163 more	Copy number gain	See cases	GUncertain significance
Select item 149196	GRCh38/hg38 22q11.22-11.23(chr22:22660239-24596054)x3	ADORA2A, ADORA2A-AS1 +163 more	Copy number gain	See cases	GUncertain significance
Select item 148729	GRCh38/hg38 22q11.22-11.23(chr22:22660239-24600238)x3	ADORA2A, ADORA2A-AS1 +163 more	Copy number gain	See cases	GUncertain significance
Select item 148336	GRCh38/hg38 22q11.22-11.23(chr22:22660239-24644628)x3	ADORA2A, ADORA2A-AS1 +163 more	Copy number gain	See cases	GUncertain significance
Select item 160821	GRCh38/hg38 22q11.22-11.23(chr22:22669543-24563859)x3	ADORA2A, ADORA2A-AS1 +160 more	Copy number gain	See cases	GUncertain significance
Select item 33061	GRCh38/hg38 22q11.22-11.23(chr22:22669543-24563859)x3	ADORA2A, ADORA2A-AS1 +160 more	Copy number gain	See cases	GConflicting classifications of pathogenicity
Select item 146821	GRCh38/hg38 22q11.22-11.23(chr22:22669599-24670517)x3	DRICH1, FAM230I +162 more	Copy number gain	See cases	GUncertain significance
Select item 59329	GRCh38/hg38 22q11.22-11.23(chr22:22686122-24577664)x3	IGLV3-22, IGLV3-25 +160 more	Copy number gain	See cases	GUncertain significance
Select item 59330	GRCh38/hg38 22q11.22-11.23(chr22:22703701-24669609)x3	ADORA2A, ADORA2A-AS1 +157 more	Copy number gain	See cases	GUncertain significance
Select item 155476	GRCh38/hg38 22q11.22-11.23(chr22:22920775-24606692)x3	ADORA2A, ADORA2A-AS1 +124 more	Copy number gain	See cases	GUncertain significance
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067187, LOC130067188 +556 more	Copy number gain	See cases	GPathogenic
Select item 59331	GRCh38/hg38 22q11.23(chr22:23285152-24723136)x3	ADORA2A, ADORA2A-AS1 +84 more	Copy number gain	See cases	GUncertain significance
Select item 153399	GRCh38/hg38 22q11.23(chr22:23308686-24647020)x3	ADORA2A, ADORA2A-AS1 +81 more	Copy number gain	See cases	GUncertain significance
Select item 155495	GRCh38/hg38 22q11.23(chr22:23310399-24643051)x3	ADORA2A, ADORA2A-AS1 +81 more	Copy number gain	See cases	GLikely benign
Select item 150614	GRCh38/hg38 22q11.23(chr22:23311976-24669609)x3	ADORA2A, ADORA2A-AS1 +80 more	Copy number gain	See cases	GUncertain significance
Select item 148933	GRCh38/hg38 22q11.23(chr22:23311976-24600238)x3	LOC130067094, LOC130067095 +80 more	Copy number gain	See cases	GUncertain significance
Select item 148633	GRCh38/hg38 22q11.23(chr22:23311976-24644628)x3	ADORA2A, ADORA2A-AS1 +80 more	Copy number gain	See cases	GUncertain significance
Select item 545275	Single allele	DDT, C22orf15 +78 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 545274	Single allele	LRRC75B, MIF +78 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 59341	GRCh38/hg38 22q11.23(chr22:23338443-24577664)x3	ADORA2A, ADORA2A-AS1 +74 more	Copy number gain	See cases	GUncertain significance
Select item 59340	GRCh38/hg38 22q11.23(chr22:23338443-24610403)x3	ADORA2A, ADORA2A-AS1 +76 more	Copy number gain	See cases	GUncertain significance
Select item 155560	GRCh38/hg38 22q11.23(chr22:23348201-24647020)x3	LOC130067120, LOC130067121 +76 more	Copy number gain	See cases	GUncertain significance
Select item 59342	GRCh38/hg38 22q11.23(chr22:23354221-24541945)x3	ADORA2A, ADORA2A-AS1 +70 more	Copy number gain	See cases	GUncertain significance
Select item 59343	GRCh38/hg38 22q11.23(chr22:23369950-24669609)x3	ADORA2A, ADORA2A-AS1 +76 more	Copy number gain	See cases	GUncertain significance
Select item 160934	GRCh38/hg38 22q11.23(chr22:23377984-24563859)x3	ADORA2A, ADORA2A-AS1 +74 more	Copy number gain	See cases	GUncertain significance
Select item 33448	GRCh38/hg38 22q11.23(chr22:23377984-24563859)x3	ADORA2A, ADORA2A-AS1 +74 more	Copy number gain	See cases	GConflicting classifications of pathogenicity
Select item 59346	GRCh38/hg38 22q11.23(chr22:23414627-24563859)x3	ADORA2A, ADORA2A-AS1 +74 more	Copy number gain	See cases	GUncertain significance
Select item 1238466	NM_182520.3(C22orf15):c.*15C>T	C22orf15, CHCHD10 (T156I)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1240465	NM_182520.3(C22orf15):c.*81C>G	C22orf15, CHCHD10	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 665651	NC_000022.10:g.(?_24108011)_(24110169_?)dup	C22orf15, CHCHD10	Duplication	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
Select item 1200484	NM_213720.3(CHCHD10):c.*53C>T	CHCHD10	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 473419	NC_000022.10:g.(?_24108174)_(24110081_?)dup	CHCHD10	Duplication	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 +2 more	GUncertain significance
Select item 3046372	NM_213720.3(CHCHD10):c.*8G>A	CHCHD10	Single nucleotide variant (3 prime UTR variant +1 more)	CHCHD10-related disorder	GLikely benign
Select item 1395106	NM_213720.3(CHCHD10):c.424C>A (p.Pro142Thr)	CHCHD10 (P142T +1 more)	Single nucleotide variant (missense variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
Select item 2922604	NM_213720.3(CHCHD10):c.412C>T (p.Leu138=)	CHCHD10	Single nucleotide variant (synonymous variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GLikely benign
Select item 648284	NM_213720.3(CHCHD10):c.410G>T (p.Gly137Val)	CHCHD10 (G137V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 +2 more	GUncertain significance
Select item 2943481	NM_213720.3(CHCHD10):c.410-3C>G	CHCHD10	Single nucleotide variant (intron variant)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
Select item 968488	NM_213720.3(CHCHD10):c.410-3C>T	CHCHD10	Single nucleotide variant (intron variant)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
Select item 763752	NM_213720.3(CHCHD10):c.410-8del	CHCHD10	Deletion (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 +2 more	GLikely benign
Select item 1591949	NM_213720.3(CHCHD10):c.410-12C>T	CHCHD10	Single nucleotide variant (intron variant)	Lower motor neuron syndrome with late-adult onset +2 more	GLikely benign
Select item 2924760	NM_213720.3(CHCHD10):c.410-13C>T	CHCHD10	Single nucleotide variant (intron variant)	Lower motor neuron syndrome with late-adult onset +2 more	GLikely benign
Select item 1584681	NM_213720.3(CHCHD10):c.410-14C>T	CHCHD10	Single nucleotide variant (intron variant)	Lower motor neuron syndrome with late-adult onset +2 more	GLikely benign
Select item 2949421	NM_213720.3(CHCHD10):c.410-15C>G	CHCHD10	Single nucleotide variant (intron variant)	Lower motor neuron syndrome with late-adult onset +2 more	GLikely benign
Select item 1597111	NM_213720.3(CHCHD10):c.410-17T>G	CHCHD10	Single nucleotide variant (intron variant)	Lower motor neuron syndrome with late-adult onset +2 more	GLikely benign
Select item 1562244	NM_213720.3(CHCHD10):c.410-19G>C	CHCHD10	Single nucleotide variant (intron variant)	Lower motor neuron syndrome with late-adult onset +2 more	GLikely benign
Select item 1209687	NM_213720.3(CHCHD10):c.409+27G>C	CHCHD10	Single nucleotide variant (intron variant)	Lower motor neuron syndrome with late-adult onset +3 more	GBenign
Select item 2954531	NM_213720.3(CHCHD10):c.409+18G>A	CHCHD10	Single nucleotide variant (intron variant)	Lower motor neuron syndrome with late-adult onset +2 more	GLikely benign
Select item 2159800	NM_213720.3(CHCHD10):c.409+17C>T	CHCHD10	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 +2 more	GLikely benign
Select item 2193892	NM_213720.3(CHCHD10):c.409+15C>G	CHCHD10	Single nucleotide variant (intron variant)	Autosomal dominant mitochondrial myopathy with exercise intolerance +2 more	GLikely benign
Select item 2930648	NM_213720.3(CHCHD10):c.409+11G>C	CHCHD10	Single nucleotide variant (intron variant)	Lower motor neuron syndrome with late-adult onset +2 more	GLikely benign
Select item 1570727	NM_213720.3(CHCHD10):c.409+11G>A	CHCHD10	Single nucleotide variant (intron variant)	Autosomal dominant mitochondrial myopathy with exercise intolerance +2 more	GLikely benign
Select item 1026524	NM_213720.3(CHCHD10):c.409+1G>A	CHCHD10	Single nucleotide variant (splice donor variant)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
Select item 1448810	NM_213720.3(CHCHD10):c.408T>C (p.His136=)	CHCHD10	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 +2 more	GUncertain significance
Select item 3144058	NM_213720.3(CHCHD10):c.406C>T (p.His136Tyr)	CHCHD10 (H143Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 540614	NM_213720.3(CHCHD10):c.403T>C (p.Tyr135His)	CHCHD10 (Y135H +1 more)	Single nucleotide variant (missense variant +1 more)	CHCHD10-related disorder +5 more	GLikely benign
Select item 1930456	NM_213720.3(CHCHD10):c.402C>A (p.Tyr134Ter)	CHCHD10 (Y134* +1 more)	Single nucleotide variant (nonsense +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
Select item 2156986	NM_213720.3(CHCHD10):c.394dup (p.Cys132fs)	CHCHD10 (C132fs +1 more)	Duplication (frameshift variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 +2 more	GUncertain significance
Select item 1980844	NM_213720.3(CHCHD10):c.395G>A (p.Cys132Tyr)	CHCHD10 (C139Y +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant mitochondrial myopathy with exercise intolerance +2 more	GUncertain significance
Select item 1394238	NM_213720.3(CHCHD10):c.389A>G (p.Lys130Arg)	CHCHD10 (K137R +1 more)	Single nucleotide variant (missense variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
Select item 568579	NM_213720.3(CHCHD10):c.386T>C (p.Leu129Pro)	CHCHD10 (L129P +1 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 +2 more	GUncertain significance
Select item 836327	NM_213720.3(CHCHD10):c.382G>T (p.Ala128Ser)	CHCHD10 (A128S +1 more)	Single nucleotide variant (missense variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
Select item 2923047	NM_213720.3(CHCHD10):c.379G>A (p.Glu127Lys)	CHCHD10 (E134K +1 more)	Single nucleotide variant (missense variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
Select item 473427	NM_213720.3(CHCHD10):c.378C>T (p.Ser126=)	CHCHD10	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +5 more	GLikely benign
Select item 640224	NM_213720.3(CHCHD10):c.377G>A (p.Ser126Asn)	CHCHD10 (S126N +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant mitochondrial myopathy with exercise intolerance +2 more	GUncertain significance
Select item 1087435	NM_213720.3(CHCHD10):c.372C>T (p.Gly124=)	CHCHD10	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 +2 more	GLikely benign
Select item 1690843	NM_213720.3(CHCHD10):c.370G>A (p.Gly124Ser)	CHCHD10 (G124S +1 more)	Single nucleotide variant (missense variant +1 more)	See cases	GUncertain significance
Select item 1495146	NM_213720.3(CHCHD10):c.365G>T (p.Cys122Phe)	CHCHD10 (C129F +1 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 +2 more	GUncertain significance
Select item 2944997	NM_213720.3(CHCHD10):c.364T>C (p.Cys122Arg)	CHCHD10 (C129R +1 more)	Single nucleotide variant (missense variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
Select item 2029690	NM_213720.3(CHCHD10):c.361C>T (p.Leu121=)	CHCHD10	Single nucleotide variant (synonymous variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GLikely benign
Select item 1963379	NM_213720.3(CHCHD10):c.359C>T (p.Ser120Phe)	CHCHD10 (S120F +1 more)	Single nucleotide variant (missense variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
Select item 2162995	NM_213720.3(CHCHD10):c.357G>T (p.Leu119=)	CHCHD10	Single nucleotide variant (synonymous variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GLikely benign
Select item 2023392	NM_213720.3(CHCHD10):c.354C>T (p.Asp118=)	CHCHD10	Single nucleotide variant (synonymous variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GLikely benign
Select item 951138	NM_213720.3(CHCHD10):c.354C>A (p.Asp118Glu)	CHCHD10 (D118E +1 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 +2 more	GUncertain significance
Select item 1352828	NM_213720.3(CHCHD10):c.350G>A (p.Ser117Asn)	CHCHD10 (S117N +1 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 +2 more	GUncertain significance
Select item 473426	NM_213720.3(CHCHD10):c.349A>T (p.Ser117Cys)	CHCHD10 (S117C +1 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 +2 more	GUncertain significance
Select item 1683416	NM_213720.3(CHCHD10):c.335del (p.Cys112fs)	CHCHD10 (C112fs +1 more)	Deletion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 1435510	NM_213720.3(CHCHD10):c.334T>C (p.Cys112Arg)	CHCHD10 (C119R +1 more)	Single nucleotide variant (missense variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
Select item 652408	NM_213720.3(CHCHD10):c.332A>G (p.Asp111Gly)	CHCHD10 (D118G +1 more)	Single nucleotide variant (missense variant +1 more)	Lower motor neuron syndrome with late-adult onset +3 more	GUncertain significance
Select item 2161055	NM_213720.3(CHCHD10):c.331G>A (p.Asp111Asn)	CHCHD10 (D111N +1 more)	Single nucleotide variant (missense variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
Select item 473425	NM_213720.3(CHCHD10):c.330G>A (p.Leu110=)	CHCHD10	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GBenign/Likely benign
Select item 540612	NM_213720.3(CHCHD10):c.327C>G (p.Phe109Leu)	CHCHD10 (F109L +1 more)	Single nucleotide variant (missense variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
Select item 1399846	NM_213720.3(CHCHD10):c.323A>C (p.Gln108Pro)	CHCHD10 (Q108P +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant mitochondrial myopathy with exercise intolerance +3 more	GUncertain significance
Select item 2941163	NM_213720.3(CHCHD10):c.322C>A (p.Gln108Lys)	CHCHD10 (Q108K +1 more)	Single nucleotide variant (missense variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
Select item 2923667	NM_213720.3(CHCHD10):c.322C>T (p.Gln108Ter)	CHCHD10 (Q115* +1 more)	Single nucleotide variant (nonsense +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
Select item 2041829	NM_213720.3(CHCHD10):c.313G>A (p.Glu105Lys)	CHCHD10 (E105K +1 more)	Single nucleotide variant (missense variant +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance
Select item 569761	NM_213720.3(CHCHD10):c.312C>A (p.Tyr104Ter)	CHCHD10 (Y104* +1 more)	Single nucleotide variant (nonsense +1 more)	Lower motor neuron syndrome with late-adult onset +2 more	GUncertain significance

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