ClinVar for Gene (Select 84833) - ClinVar

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Links from Gene

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3131809	NM_001206427.2(ATP5MK):c.68C>T (p.Thr23Ile)	ATP5MK (T23I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131808	NM_001206427.2(ATP5MK):c.23C>T (p.Ala8Val)	ATP5MK (A8V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131807	NM_001206427.2(ATP5MK):c.13G>C (p.Glu5Gln)	ATP5MK (E5Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131806	NM_001206427.2(ATP5MK):c.113T>C (p.Ile38Thr)	ATP5MK (I38T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	PIK3AP1, SVIL +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	RRP12, USP54 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2424090	NC_000010.10:g.(?_99344461)_(105992004_?)dup	ABCC2, ACTR1A +95 more	Duplication	not provided	GUncertain significance
Select item 1808168	GRCh37/hg19 10q24.33-25.1(chr10:105015345-105911204)x3	ATP5MK, CALHM1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1527600	GRCh37/hg19 10q24.33(chr10:105064606-105508469)	ATP5MK, CALHM1 +7 more	Copy number gain	not specified	GUncertain significance
Select item 1527599	GRCh37/hg19 10q24.32-25.3(chr10:104030479-115410590)	C10orf95, CALHM1 +57 more	Copy number loss	not specified	GPathogenic
Select item 1030054	NM_001206427.2(ATP5MK):c.59A>G (p.Asn20Ser)	ATP5MK (N20S)	Single nucleotide variant (missense variant)	Mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6	GUncertain significance
Select item 981119	NM_001206427.2(ATP5MK):c.87+2dup	ATP5MK	Duplication (splice donor variant)	Mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6	GLikely pathogenic
Select item 979289	GRCh37/hg19 10q24.32-24.33(chr10:104883845-105482700)x3	CALHM1, SH3PXD2A +9 more	Copy number gain	not provided	GUncertain significance
Select item 815375	GRCh37/hg19 10q24.33(chr10:104915576-105241844)x3	PDCD11, CALHM2 +7 more	Copy number gain	not provided	GUncertain significance
Select item 694833	NM_001206427.2(ATP5MK):c.87+1G>C	ATP5MK	Single nucleotide variant (splice donor variant)	Mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6	GPathogenic
Select item 688068	GRCh37/hg19 10q24.33(chr10:104915309-105332773)x3	ATP5MK, CALHM1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 563771	GRCh37/hg19 10q24.32-24.33(chr10:103891057-105339973)x1	NT5C2, WBP1L +30 more	Copy number loss	not provided	GLikely pathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 394507	GRCh37/hg19 10q24.32-24.33(chr10:104853173-105357653)x4	ATP5MK, CALHM1 +9 more	Copy number gain	See cases	GUncertain significance
Select item 394051	GRCh37/hg19 10q24.33(chr10:105153957-105215292)x3	ATP5MK, CALHM1 +2 more	Copy number gain	See cases	GUncertain significance
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	BCCIP, BEND7 +722 more	Copy number gain	See cases	GPathogenic
Select item 377387	GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1	CYP17A1, KLLN +206 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic
Select item 155304	GRCh38/hg38 10q24.32-25.3(chr10:102732173-114085105)x1	LOC124416905, LOC124416906 +318 more	Copy number loss	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 58780	GRCh38/hg38 10q24.32-24.33(chr10:102243341-103929730)x1	ACTR1A, ARL3 +121 more	Copy number loss	See cases	GPathogenic
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 3572	NC_000010.11:g.(102444036_?)_(?_104726221)del	ACTR1A, ARL3 +135 more	Deletion	Desmoplastic/nodular medulloblastoma	GPathogenic

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Links from Gene

Items: 34