21645[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 146855	GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1	ABCA13, ADCY1 +426 more	Copy number loss	See cases	GPathogenic
Select item 58866	GRCh38/hg38 7p12.1-11.2(chr7:52114454-57434735)x1	CCT6A, CHCHD2 +107 more	Copy number loss	See cases	GUncertain significance
Select item 59596	GRCh38/hg38 7p12.1-11.2(chr7:52192528-57823293)x3	CCT6A, CHCHD2 +107 more	Copy number gain	See cases	GUncertain significance
Select item 545348	Single allele	CCT6A, CHCHD2 +95 more	Duplication	Autism	GLikely pathogenic
Select item 59682	GRCh38/hg38 7p12.1-q11.22(chr7:53274059-68576213)x3	ASL, CCT6A +228 more	Copy number gain	See cases	GPathogenic
Select item 59597	GRCh38/hg38 7p12.1-11.2(chr7:53450330-56107195)x3	CCT6A, CHCHD2 +93 more	Copy number gain	See cases	GUncertain significance
Select item 153106	GRCh38/hg38 7p11.2(chr7:55538414-56107195)x3	CCT6A, CHCHD2 +44 more	Copy number gain	See cases	GUncertain significance
Select item 154478	GRCh38/hg38 7p11.2(chr7:55733060-56107195)x1	CCT6A, CHCHD2 +30 more	Copy number loss	See cases	GBenign
Select item 145628	GRCh38/hg38 7p11.2(chr7:55805157-56107195)x1	CCT6A, CHCHD2 +30 more	Copy number loss	See cases	GUncertain significance
Select item 1288844	NM_016139.4(CHCHD2):c.*125G>A	CHCHD2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1278162	NM_016139.4(CHCHD2):c.*45dup	CHCHD2	Duplication (frameshift variant +2 more)	CHCHD2-related disorder +1 more	GBenign/Likely benign
Select item 2195121	NM_016139.4(CHCHD2):c.446-9T>A	CHCHD2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1952783	NM_016139.4(CHCHD2):c.446-16T>C	CHCHD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1300703	NM_016139.4(CHCHD2):c.446-120dup	CHCHD2	Duplication (intron variant)	not provided	GLikely benign
Select item 1288912	NM_016139.4(CHCHD2):c.445+113T>C	CHCHD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1583763	NM_016139.4(CHCHD2):c.445+17A>G	CHCHD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1589146	NM_016139.4(CHCHD2):c.445+14C>T	CHCHD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 218883	NM_016139.4(CHCHD2):c.434G>A (p.Arg145Gln)	CHCHD2 (R145Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 870150	NM_016139.4(CHCHD2):c.418G>A (p.Val140Met)	CHCHD2 (V140M)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta	GBenign
Select item 1006391	NM_016139.4(CHCHD2):c.405G>T (p.Glu135Asp)	CHCHD2 (E135D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3040964	NM_016139.4(CHCHD2):c.399C>T (p.Leu133=)	CHCHD2	Single nucleotide variant (synonymous variant)	CHCHD2-related disorder	GLikely benign
Select item 2352747	NM_016139.4(CHCHD2):c.391A>G (p.Ile131Val)	CHCHD2 (I131V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2743045	NM_016139.4(CHCHD2):c.376C>T (p.Gln126Ter)	CHCHD2 (Q126*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2138851	NM_016139.4(CHCHD2):c.373G>A (p.Ala125Thr)	CHCHD2 (A125T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2061748	NM_016139.4(CHCHD2):c.361T>G (p.Phe121Val)	CHCHD2 (F121V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1494344	NM_016139.4(CHCHD2):c.359A>G (p.Gln120Arg)	CHCHD2 (Q120R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1008444	NM_016139.4(CHCHD2):c.320C>G (p.Pro107Arg)	CHCHD2 (P107R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 967469	NM_016139.4(CHCHD2):c.311dup (p.Thr105fs)	CHCHD2 (T105fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1180406	NM_016139.4(CHCHD2):c.300+159T>G	CHCHD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1588514	NM_016139.4(CHCHD2):c.300+7A>C	CHCHD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 218884	NM_016139.4(CHCHD2):c.300+5G>A	CHCHD2	Single nucleotide variant (intron variant)	Parkinson disease 22, autosomal dominant	GPathogenic
Select item 2785456	NM_016139.4(CHCHD2):c.296A>G (p.Tyr99Cys)	CHCHD2 (Y99C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310950	NM_016139.4(CHCHD2):c.293C>T (p.Thr98Ile)	CHCHD2 (T98I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2556338	NM_016139.4(CHCHD2):c.284C>T (p.Pro95Leu)	CHCHD2 (P95L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2072140	NM_016139.4(CHCHD2):c.265A>C (p.Asn89His)	CHCHD2 (N89H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1117477	NM_016139.4(CHCHD2):c.264T>C (p.Ser88=)	CHCHD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1401436	NM_016139.4(CHCHD2):c.242C>A (p.Thr81Asn)	CHCHD2 (T81N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2764372	NM_016139.4(CHCHD2):c.241A>G (p.Thr81Ala)	CHCHD2 (T81A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303535	NM_016139.4(CHCHD2):c.238A>G (p.Ile80Val)	CHCHD2 (I80V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2031028	NM_016139.4(CHCHD2):c.235G>A (p.Ala79Thr)	CHCHD2 (A79T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2711957	NM_016139.4(CHCHD2):c.234C>T (p.His78=)	CHCHD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2415618	NM_016139.4(CHCHD2):c.183C>T (p.Thr61=)	CHCHD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 218882	NM_016139.4(CHCHD2):c.182C>T (p.Thr61Ile)	CHCHD2 (T61I)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2894385	NM_016139.4(CHCHD2):c.179C>T (p.Ala60Val)	CHCHD2 (A60V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2534692	NM_016139.4(CHCHD2):c.174G>T (p.Gln58His)	CHCHD2 (Q58H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548754	NM_016139.4(CHCHD2):c.152G>C (p.Arg51Pro)	CHCHD2 (R51P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2096376	NM_016139.4(CHCHD2):c.151C>T (p.Arg51Trp)	CHCHD2 (R51W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2716349	NM_016139.4(CHCHD2):c.147G>T (p.Ala49=)	CHCHD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2497838	NM_016139.4(CHCHD2):c.145_147delinsTCC (p.Ala49Ser)	CHCHD2 (A49S)	Indel (missense variant)	not provided	GUncertain significance
Select item 1942464	NM_016139.4(CHCHD2):c.146C>T (p.Ala49Val)	CHCHD2 (A49V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2657515	NM_016139.4(CHCHD2):c.125C>T (p.Ala42Val)	CHCHD2 (A42V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1722436	NM_016139.4(CHCHD2):c.115C>A (p.Pro39Thr)	CHCHD2 (P39T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615019	NM_016139.4(CHCHD2):c.109G>T (p.Ala37Ser)	CHCHD2 (A37S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 948138	NM_016139.4(CHCHD2):c.101C>T (p.Pro34Leu)	CHCHD2 (P34L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2192193	NM_016139.4(CHCHD2):c.94G>C (p.Ala32Pro)	CHCHD2 (A32P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 624280	NM_016139.4(CHCHD2):c.94G>A (p.Ala32Thr)	CHCHD2 (A32T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2196911	NM_016139.4(CHCHD2):c.78C>T (p.Pro26=)	CHCHD2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1911940	NM_016139.4(CHCHD2):c.75A>C (p.Ala25=)	CHCHD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867798	NM_016139.4(CHCHD2):c.73G>A (p.Ala25Thr)	CHCHD2 (A25T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985900	NM_016139.4(CHCHD2):c.65T>C (p.Met22Thr)	CHCHD2 (M22T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1061427	NM_016139.4(CHCHD2):c.53G>A (p.Arg18Gln)	CHCHD2 (R18Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3144061	NM_016139.4(CHCHD2):c.52C>T (p.Arg18Trp)	CHCHD2 (R18W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2994963	NM_016139.4(CHCHD2):c.51-10del	CHCHD2	Deletion (intron variant)	not provided	GBenign
Select item 2064201	NM_016139.4(CHCHD2):c.51-14del	CHCHD2	Deletion (intron variant)	not provided	GLikely benign
Select item 1273678	NM_016139.4(CHCHD2):c.51-193A>G	CHCHD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244868	NM_016139.4(CHCHD2):c.51-210C>T	CHCHD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178952	NM_016139.4(CHCHD2):c.50+241T>C	CHCHD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326121	NM_016139.4(CHCHD2):c.50+104C>A	CHCHD2, LOC129998502	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1249350	NM_016139.4(CHCHD2):c.50+87T>C	CHCHD2, LOC129998502	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2914692	NM_016139.4(CHCHD2):c.46G>A (p.Ala16Thr)	CHCHD2, LOC129998502 (A16T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2015448	NM_016139.4(CHCHD2):c.45G>C (p.Pro15=)	CHCHD2, LOC129998502	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1102651	NM_016139.4(CHCHD2):c.40C>T (p.Pro14Ser)	CHCHD2, LOC129998502 (P14S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2484093	NM_016139.4(CHCHD2):c.38C>T (p.Ala13Val)	CHCHD2, LOC129998502 (A13V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657516	NM_016139.4(CHCHD2):c.32G>A (p.Arg11His)	CHCHD2, LOC129998502 (R11H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1432319	NM_016139.4(CHCHD2):c.10G>A (p.Gly4Arg)	CHCHD2, LOC129998502 (G4R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 703422	NM_016139.4(CHCHD2):c.5C>T (p.Pro2Leu)	CHCHD2, LOC129998502 (P2L)	Single nucleotide variant (missense variant)	CHCHD2-related disorder +1 more	GBenign/Likely benign
Select item 1275589	NM_016139.4(CHCHD2):c.-9T>G	CHCHD2, LOC129998502	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1271682	NM_016139.4(CHCHD2):c.-34C>A	CHCHD2, LOC129998502	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1326031	NC_000007.14:g.56106478A>C	CHCHD2, LOC129998502	Single nucleotide variant	not provided	GLikely benign
Select item 1706796	NM_016139.3(CHCHD2):c.-93C>A	CHCHD2, LOC129998502	Single nucleotide variant	not provided	GLikely benign
Select item 1294577	NC_000007.14:g.56106658C>G	CHCHD2	Single nucleotide variant	not provided	GBenign
Select item 1294576	NC_000007.14:g.56106662del	CHCHD2	Deletion	not provided	GBenign
Select item 1269275	NC_000007.14:g.56106697_56106698dup	CHCHD2	Duplication	not provided	GBenign
Select item 1272336	NC_000007.14:g.56106859_56106860del	CHCHD2	Deletion	not provided	GBenign
Select item 1261268	NC_000007.14:g.56106932C>T	CHCHD2	Single nucleotide variant	not provided	GBenign
Select item 2684487	GRCh37/hg19 7p11.2-11.1(chr7:55498635-58025873)x3	CCT6A, CHCHD2 +12 more	Copy number gain	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1467711	NC_000007.13:g.(?_56079455)_(56174106_?)dup	SUMF2, CCT6A +3 more	Duplication	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 1411250	NC_000007.13:g.(?_56079455)_(56174106_?)del	CCT6A, CHCHD2 +3 more	Deletion	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 1340760	GRCh37/hg19 7p11.2(chr7:55776531-56393852)x3	CCT6A, CHCHD2 +8 more	Copy number gain	not provided	GLikely benign
Select item 1340644	GRCh37/hg19 7p11.2(chr7:55757106-56489653)x3	CCT6A, CHCHD2 +8 more	Copy number gain	not provided	GLikely benign
Select item 810239	GRCh37/hg19 7p11.2(chr7:56169544-56174106)x3	CHCHD2	Copy number gain	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 685442	GRCh37/hg19 7p12.1-11.1(chr7:52809787-58025873)x1	CCT6A, CHCHD2 +17 more	Copy number loss	not provided	GUncertain significance
Select item 503572	GRCh37/hg19 7p11.2(chr7:55848150-56344705)x3	PHKG1, PSPH +8 more	Copy number gain	See cases	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic

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