ClinVar for Gene (Select 349075) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +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	LOC126860033, LOC126860034 +426 more	Copy number loss	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 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 +228 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

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 42