UQCRHL[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 152293	GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1	AADACL3, AADACL4 +370 more	Copy number loss	See cases	GPathogenic
Select item 1707471	NC_000001.11:g.10115497_16283149dup	LOC110120623, LOC110120648 +361 more	Duplication	not specified	GLikely pathogenic
Select item 59892	GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	AADACL3, AADACL4 +337 more	Copy number loss	See cases	GPathogenic
Select item 59894	GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1	LOC112577504, LOC112577505 +316 more	Copy number loss	See cases	GPathogenic
Select item 59895	GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1	AADACL3, AADACL4 +288 more	Copy number loss	See cases	GPathogenic
Select item 148652	GRCh38/hg38 1p36.21-36.13(chr1:12724785-16034788)x1	AADACL3, AGMAT +151 more	Copy number loss	See cases	GPathogenic
Select item 58056	GRCh38/hg38 1p36.21-36.13(chr1:13619979-18466172)x3	LOC129929515, LOC129929516 +211 more	Copy number gain	See cases	GPathogenic
Select item 146292	GRCh38/hg38 1p36.21-36.13(chr1:15052047-16499873)x1	AGMAT, ARHGEF19 +112 more	Copy number loss	See cases	GLikely pathogenic
Select item 57443	GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1	ACTL8, AGMAT +303 more	Copy number loss	See cases	GPathogenic
Select item 149010	GRCh38/hg38 1p36.21-36.13(chr1:15681812-19662339)x1	LOC126805640, LOC126805641 +206 more	Copy number loss	See cases	GPathogenic
Select item 3186889	NM_001089591.2(UQCRHL):c.244G>A (p.Val82Met)	UQCRHL (V82M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617034	NM_001089591.2(UQCRHL):c.179G>A (p.Arg60Gln)	UQCRHL (R60Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786846	NM_001089591.2(UQCRHL):c.171A>G (p.Val57=)	UQCRHL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2556209	NM_001089591.2(UQCRHL):c.160G>C (p.Asp54His)	UQCRHL (D54H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767656	NM_001089591.2(UQCRHL):c.158A>G (p.Tyr53Cys)	UQCRHL (Y53C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2513732	NM_001089591.2(UQCRHL):c.143A>G (p.Glu48Gly)	UQCRHL (E48G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186888	NM_001089591.2(UQCRHL):c.140G>A (p.Arg47Gln)	UQCRHL (R47Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219130	NM_001089591.2(UQCRHL):c.139C>T (p.Arg47Trp)	UQCRHL (R47W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253513	NM_001089591.2(UQCRHL):c.134A>T (p.Lys45Met)	UQCRHL (K45M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590318	NM_001089591.2(UQCRHL):c.116A>G (p.Gln39Arg)	UQCRHL (Q39R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600322	NM_001089591.2(UQCRHL):c.85C>T (p.Pro29Ser)	UQCRHL (P29S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362203	NM_001089591.2(UQCRHL):c.40G>A (p.Gly14Arg)	UQCRHL (G14R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242850	NM_001089591.2(UQCRHL):c.29T>C (p.Leu10Pro)	UQCRHL (L10P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 28