C2orf74[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 60146	GRCh38/hg38 2p16.1-15(chr2:56738054-62473668)x1	B3GNT2, BCL11A +161 more	Copy number loss	See cases	GPathogenic
Select item 60147	GRCh38/hg38 2p16.1-15(chr2:57249378-61842734)x1	LOC110120782, LOC110120811 +123 more	Copy number loss	See cases	GPathogenic
Select item 154940	GRCh38/hg38 2p16.1-15(chr2:58031916-63611810)x1	B3GNT2, BCL11A +177 more	Copy number loss	See cases	GPathogenic
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 60148	GRCh38/hg38 2p16.1-14(chr2:58873039-64190332)x1	B3GNT2, BCL11A +187 more	Copy number loss	See cases	GPathogenic
Select item 60178	GRCh38/hg38 2p16.1-15(chr2:59224998-61621710)x1	BCL11A, C2orf74 +85 more	Copy number loss	See cases	GPathogenic
Select item 57148	GRCh38/hg38 2p16.1-15(chr2:59658846-62336083)x1	B3GNT2, BCL11A +118 more	Copy number loss	See cases	GPathogenic
Select item 58870	GRCh38/hg38 2p16.1-15(chr2:60009106-62006709)x3	BCL11A, C2orf74 +96 more	Copy number gain	See cases	GUncertain significance
Select item 150334	GRCh38/hg38 2p16.1-15(chr2:60359313-61704436)x3	BCL11A, C2orf74 +72 more	Copy number gain	See cases	GLikely pathogenic
Select item 148468	GRCh38/hg38 2p16.1-15(chr2:60359313-61775405)x3	BCL11A, C2orf74 +73 more	Copy number gain	See cases	GUncertain significance
Select item 3062588	GRCh37/hg19 2p16.1-15(chr2:61215496-62175386)x3	C2orf74, CCT4 +7 more	Copy number gain	not specified	GUncertain significance
Select item 1808715	GRCh37/hg19 2p16.1-15(chr2:60680467-61527143)x3	BCL11A, C2orf74 +6 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808522	GRCh37/hg19 2p16.1-15(chr2:61238958-61414470)x3	C2orf74, PEX13 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1807738	GRCh37/hg19 2p15(chr2:61379352-61928100)x1	C2orf74, USP34 +1 more	Copy number loss	not provided	GPathogenic
Select item 1807687	GRCh37/hg19 2p16.1-15(chr2:61215497-61714418)x1	C2orf74, PEX13 +4 more	Copy number loss	not provided	GPathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1374173	NC_000002.11:g.(?_61258534)_(62063264_?)dup	USP34, XPO1 +4 more	Duplication	Peroxisome biogenesis disorder 11A (Zellweger)	GUncertain significance
Select item 1341286	GRCh37/hg19 2p16.1-15(chr2:61288377-61639509)x1	C2orf74, SANBR +1 more	Copy number loss	not provided	GUncertain significance
Select item 1340673	GRCh37/hg19 2p16.1-15(chr2:61288351-61394867)x3	C2orf74, SANBR	Copy number gain	not provided	GUncertain significance
Select item 980980	GRCh37/hg19 2p15(chr2:61343158-61409905)x1	C2orf74, SANBR	Copy number loss	not provided	GUncertain significance
Select item 814268	GRCh37/hg19 2p15(chr2:61327948-61436931)x3	USP34, SANBR +1 more	Copy number gain	not provided	GUncertain significance
Select item 625544	GRCh37/hg19 2p16.1-15(chr2:57445335-62733206)	B3GNT2, BCL11A +14 more	Copy number loss	not provided	GLikely pathogenic
Select item 562631	GRCh37/hg19 2p16.1-15(chr2:60573620-61767847)x3	BCL11A, C2orf74 +7 more	Copy number gain	not provided	GUncertain significance
Select item 562624	GRCh37/hg19 2p16.1-15(chr2:60339550-61374752)x3	SANBR, BCL11A +5 more	Copy number gain	not provided	GUncertain significance
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 523277	GRCh37/hg19 2p16.1-15(chr2:60308869-62368583)	PEX13, BCL11A +10 more	Copy number gain	Global developmental delay +2 more	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 395613	GRCh37/hg19 2p15(chr2:61335464-61757267)x1	C2orf74, SANBR +2 more	Copy number loss	See cases	GLikely pathogenic
Select item 395115	GRCh37/hg19 2p15(chr2:61384966-61439049)x3	C2orf74, USP34	Copy number gain	See cases	GUncertain significance
Select item 253686	GRCh37/hg19 2p16.1-15(chr2:60405806-62442792)x3	B3GNT2, BCL11A +11 more	Copy number gain	See cases	GUncertain significance

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Items: 33