26515[HGNC] - ClinVar

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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	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 1707467	Single allele	ANKRD52, APOF +124 more	Duplication	not specified	GUncertain significance
Select item 2260439	NM_144576.4(COQ10A):c.184G>A (p.Ala62Thr)	COQ10A (A30T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076297	NM_144576.4(COQ10A):c.245A>G (p.Asn82Ser)	COQ10A (N82S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325728	NM_144576.4(COQ10A):c.371C>A (p.Ser124Tyr)	COQ10A (S124Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341480	NM_144576.4(COQ10A):c.416C>G (p.Pro139Arg)	COQ10A (P107R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614598	NM_144576.4(COQ10A):c.501C>A (p.Phe167Leu)	COQ10A (F135L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239267	NM_144576.4(COQ10A):c.566T>C (p.Val189Ala)	COQ10A (V157A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397150	NM_144576.4(COQ10A):c.586G>A (p.Glu196Lys)	COQ10A (E196K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076298	NM_144576.4(COQ10A):c.593G>A (p.Arg198His)	COQ10A (R166H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076299	NM_144576.4(COQ10A):c.664G>C (p.Glu222Gln)	COQ10A (E190Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242630	NM_144576.4(COQ10A):c.671G>C (p.Arg224Pro)	COQ10A (R192P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076300	NM_144576.4(COQ10A):c.683A>G (p.Lys228Arg)	COQ10A (K196R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076301	NM_144576.4(COQ10A):c.710G>A (p.Arg237His)	COQ10A (R205H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318876	NM_144576.4(COQ10A):c.730G>T (p.Val244Leu)	COQ10A (V212L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343987	NM_144576.4(COQ10A):c.740C>G (p.Thr247Ser)	COQ10A (T247S +1 more)	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 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: 21