ZC3H10[gene] - ClinVar

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

Search results

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 152934	GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3	AMHR2, ATF7 +219 more	Copy number gain	See cases	GPathogenic
Select item 1707467	Single allele	ANKRD52, APOF +124 more	Duplication	not specified	GUncertain significance
Select item 2298529	NM_032786.3(ZC3H10):c.72G>T (p.Glu24Asp)	ZC3H10 (E24D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538452	NM_032786.3(ZC3H10):c.229A>G (p.Ile77Val)	ZC3H10 (I77V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302806	NM_032786.3(ZC3H10):c.421C>T (p.Arg141Cys)	ZC3H10 (R141C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293424	NM_032786.3(ZC3H10):c.508G>C (p.Gly170Arg)	ZC3H10 (G170R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589994	NM_032786.3(ZC3H10):c.530C>T (p.Ser177Leu)	ZC3H10 (S177L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 872170	NM_032786.3(ZC3H10):c.550_574dup (p.Ile192delinsArgThrThrSerTer)	ZC3H10	Duplication (nonsense)	not provided	GUncertain significance
Select item 872171	NM_032786.3(ZC3H10):c.625C>T (p.Arg209Cys)	ZC3H10 (R209C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2338808	NM_032786.3(ZC3H10):c.649C>T (p.Pro217Ser)	ZC3H10 (P217S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606279	NM_032786.3(ZC3H10):c.695C>T (p.Pro232Leu)	ZC3H10 (P232L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615347	NM_032786.3(ZC3H10):c.970C>T (p.Arg324Cys)	ZC3H10 (R324C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606586	NM_032786.3(ZC3H10):c.1021C>T (p.Pro341Ser)	ZC3H10 (P341S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1527711	GRCh37/hg19 12q13.2-13.3(chr12:56333262-57010442)	ANKRD52, APOF +30 more	Copy number gain	not specified	GUncertain significance
Select item 1527710	GRCh37/hg19 12q13.2(chr12:55975308-56593032)	BLOC1S1, CD63 +25 more	Copy number gain	not specified	GUncertain significance
Select item 980439	GRCh37/hg19 12q13.2(chr12:56333246-56558418)x3	CDK2, DGKA +13 more	Copy number gain	not provided	GUncertain significance
Select item 815528	GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3	AGAP2, ANKRD52 +105 more	Copy number gain	not provided	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 21