"Quest Diagnostics Nichols Institute San Juan Capistrano"[submitter] A - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685468	GRCh37/hg19 13q21.2(chr13:60592258-60680722)x1	DIAPH3	Copy number loss	not provided	GUncertain significance
Select item 2685467	GRCh37/hg19 13q21.2(chr13:60450342-60661812)x1	DIAPH3	Copy number loss	not provided	GUncertain significance
Select item 2684702	GRCh37/hg19 13q21.1-21.2(chr13:59516323-61738095)x3	DIAPH3, TDRD3	Copy number gain	not provided	GUncertain significance
Select item 1809408	GRCh37/hg19 13q21.1-21.31(chr13:56897737-64074025)x1	DIAPH3, PCDH17 +7 more	Copy number loss	not provided	GUncertain significance
Select item 1341277	GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3	GTF2F2, PRR20D +175 more	Copy number gain	not provided	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 1341055	GRCh37/hg19 13q21.1-31.2(chr13:59574760-89410027)x1	ACOD1, ATXN8OS +35 more	Copy number loss	not provided	GPathogenic
Select item 1340190	GRCh37/hg19 13q21.2(chr13:59668842-60305252)x3	DIAPH3	Copy number gain	not provided	GUncertain significance
Select item 1340140	GRCh37/hg19 13q21.2(chr13:60194034-61618898)x3	DIAPH3, TDRD3	Copy number gain	not provided	GUncertain significance
Select item 979374	GRCh37/hg19 13q21.2(chr13:60713376-60921593)x3	DIAPH3	Copy number gain	not provided	GUncertain significance
Select item 815593	GRCh37/hg19 13q21.2(chr13:60420105-60594349)x1	DIAPH3	Copy number loss	not provided	GUncertain significance
Select item 815590	GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1	CDC16, NALCN +142 more	Copy number loss	not provided	GPathogenic
Select item 815587	GRCh37/hg19 13q14.3-31.3(chr13:51512603-91631111)x1	DIS3, KLF5 +62 more	Copy number loss	not provided	GPathogenic
Select item 564083	GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3	NUDT15, NUFIP1 +211 more	Copy number gain	not provided	GPathogenic
Select item 564080	GRCh37/hg19 13q14.3-21.32(chr13:51939350-66854666)x3	ALG11, ATP7B +25 more	Copy number gain	not provided	GLikely pathogenic
Select item 564009	GRCh37/hg19 13q21.2(chr13:60374705-60583008)x1	DIAPH3	Copy number loss	not provided	GUncertain significance
Select item 564008	GRCh37/hg19 13q21.2(chr13:60530375-60730636)x1	DIAPH3	Copy number loss	not provided	GUncertain significance