ClinVar for Gene (Select 51373) - ClinVar

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Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2657514	NM_015969.3(MRPS17):c.124-6C>G	MRPS17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2596483	NM_015969.3(MRPS17):c.113A>G (p.Tyr38Cys)	MRPS17 (Y38C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588834	NM_015969.3(MRPS17):c.59C>G (p.Thr20Arg)	MRPS17 (T20R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542530	NM_015969.3(MRPS17):c.55G>A (p.Gly19Arg)	MRPS17 (G19R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537924	NM_015969.3(MRPS17):c.356A>G (p.Lys119Arg)	MRPS17 (K119R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487542	NM_015969.3(MRPS17):c.290G>A (p.Gly97Glu)	MRPS17 (G97E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330886	NM_015969.3(MRPS17):c.104T>G (p.Leu35Arg)	MRPS17 (L35R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205768	NM_015969.3(MRPS17):c.253G>A (p.Val85Ile)	MRPS17 (V85I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1809442	GRCh37/hg19 7p12.1-11.2(chr7:53991820-56148011)x3	CCT6A, EGFR +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 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 1339876	GRCh37/hg19 7p11.2(chr7:55973193-56012570)x3	MRPS17, ZNF713	Copy number gain	not provided	Gnot provided
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 545348	Single allele	CCT6A, CHCHD2 +95 more	Duplication	Autism	GLikely pathogenic
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
Select item 442331	GRCh37/hg19 7p11.2(chr7:55550741-56945077)x1	CCT6A, CHCHD2 +9 more	Copy number loss	See cases	GLikely benign
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395009	GRCh37/hg19 7p11.2(chr7:54972516-56172165)x1	CCT6A, CHCHD2 +10 more	Copy number loss	See cases	GPathogenic
Select item 394272	GRCh37/hg19 7p11.2(chr7:55874737-56172165)x3	CCT6A, CHCHD2 +7 more	Copy number gain	See cases	GBenign
Select item 253758	GRCh37/hg19 7p11.2(chr7:55874737-56172217)x1	SUMF2, CCT6A +7 more	Copy number loss	See cases	GUncertain significance
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
Select item 154478	GRCh38/hg38 7p11.2(chr7:55733060-56107195)x1	CCT6A, CHCHD2 +30 more	Copy number loss	See cases	GBenign
Select item 153106	GRCh38/hg38 7p11.2(chr7:55538414-56107195)x3	CCT6A, CHCHD2 +44 more	Copy number gain	See cases	GUncertain significance
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 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 145628	GRCh38/hg38 7p11.2(chr7:55805157-56107195)x1	CCT6A, CHCHD2 +30 more	Copy number loss	See cases	GUncertain significance
Select item 59682	GRCh38/hg38 7p12.1-q11.22(chr7:53274059-68576213)x3	ASL, CCT6A +229 more	Copy number gain	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 59597	GRCh38/hg38 7p12.1-11.2(chr7:53450330-56107195)x3	CCT6A, CHCHD2 +93 more	Copy number gain	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 58866	GRCh38/hg38 7p12.1-11.2(chr7:52114454-57434735)x1	CCT6A, CHCHD2 +107 more	Copy number loss	See cases	GUncertain significance

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Links from Gene

Items: 37