ClinVar for Gene (Select 349075) - ClinVar

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Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3259334	NM_182633.3(ZNF713):c.1177A>G (p.Thr393Ala)	ZNF713 (T393A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259333	NM_182633.3(ZNF713):c.1269G>T (p.Glu423Asp)	ZNF713 (E410D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259332	NM_182633.3(ZNF713):c.971G>A (p.Arg324His)	ZNF713 (R311H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259331	NM_182633.3(ZNF713):c.945A>G (p.Ile315Met)	ZNF713 (I302M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197934	NM_182633.3(ZNF713):c.952G>A (p.Gly318Arg)	ZNF713 (G318R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197933	NM_182633.3(ZNF713):c.857A>G (p.Tyr286Cys)	ZNF713 (Y286C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197932	NM_182633.3(ZNF713):c.619C>G (p.Leu207Val)	ZNF713 (L207V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2602911	NM_182633.3(ZNF713):c.1085G>A (p.Arg362Lys)	ZNF713 (R362K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533641	NM_182633.3(ZNF713):c.605C>T (p.Ser202Phe)	ZNF713 (S202F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508411	NM_182633.3(ZNF713):c.563A>C (p.Asn188Thr)	ZNF713 (N188T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382103	NM_182633.3(ZNF713):c.441G>C (p.Trp147Cys)	ZNF713 (W147C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311254	NM_182633.3(ZNF713):c.98C>T (p.Thr33Met)	ZNF713 (T33M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305575	NM_182633.3(ZNF713):c.276A>G (p.Ile92Met)	ZNF713 (I79M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2303319	NM_182633.3(ZNF713):c.602C>T (p.Pro201Leu)	ZNF713 (P188L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285495	NM_182633.3(ZNF713):c.340A>G (p.Thr114Ala)	ZNF713 (T114A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279663	NM_182633.3(ZNF713):c.997C>G (p.Leu333Val)	ZNF713 (L333V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 144936	GRCh38/hg38 7p11.2(chr7:55878835-55888002)x3	FRA7A, LOC129929054 +2 more	Copy number gain	See cases	GBenign
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

ClinVar

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Links from Gene

Items: 46