25893[HGNC] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 152934	GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3	PMEL, PPP1R1A +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)	not specified	GUncertain significance
Select item 3334017	NM_032786.3(ZC3H10):c.164G>A (p.Arg55His)	ZC3H10 (R55H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538452	NM_032786.3(ZC3H10):c.229A>G (p.Ile77Val)	ZC3H10 (I77V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302806	NM_032786.3(ZC3H10):c.421C>T (p.Arg141Cys)	ZC3H10 (R141C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293424	NM_032786.3(ZC3H10):c.508G>C (p.Gly170Arg)	ZC3H10 (G170R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192236	NM_032786.3(ZC3H10):c.515G>T (p.Gly172Val)	ZC3H10 (G172V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589994	NM_032786.3(ZC3H10):c.530C>T (p.Ser177Leu)	ZC3H10 (S177L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 872170	NM_032786.3(ZC3H10):c.550_574dup (p.Ile192delinsArgThrThrSerTer)	ZC3H10	Duplication (nonsense)	not provided	GUncertain significance
Select item 3192238	NM_032786.3(ZC3H10):c.584T>A (p.Leu195His)	ZC3H10 (L195H)	Single nucleotide variant (missense variant)	not specified	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 3192239	NM_032786.3(ZC3H10):c.649C>G (p.Pro217Ala)	ZC3H10 (P217A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338808	NM_032786.3(ZC3H10):c.649C>T (p.Pro217Ser)	ZC3H10 (P217S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192240	NM_032786.3(ZC3H10):c.671C>T (p.Ser224Leu)	ZC3H10 (S224L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606279	NM_032786.3(ZC3H10):c.695C>T (p.Pro232Leu)	ZC3H10 (P232L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334016	NM_032786.3(ZC3H10):c.698G>A (p.Arg233Gln)	ZC3H10 (R233Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615347	NM_032786.3(ZC3H10):c.970C>T (p.Arg324Cys)	ZC3H10 (R324C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606586	NM_032786.3(ZC3H10):c.1021C>T (p.Pro341Ser)	ZC3H10 (P341S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192235	NM_032786.3(ZC3H10):c.1078C>G (p.Pro360Ala)	ZC3H10 (P360A)	Single nucleotide variant (missense variant)	not specified	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)	SLC15A5, SLC16A7 +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	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 28