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

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Search results

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685727	GRCh37/hg19 Xp22.33-21.2(chrX:168547-30774453)x2	ACE2, ACOT9 +120 more	Copy number gain	not provided	GPathogenic
Select item 2685693	GRCh37/hg19 Xp22.31(chrX:6778999-8075687)x1	PUDP, PNPLA4 +2 more	Copy number loss	not provided	GPathogenic
Select item 2685692	GRCh37/hg19 Xp22.31(chrX:6591135-9498909)x1	PNPLA4, PUDP +8 more	Copy number loss	not provided	GPathogenic
Select item 2685691	GRCh37/hg19 Xp22.31(chrX:6455150-8135644)x1	PNPLA4, PUDP +2 more	Copy number loss	not provided	GPathogenic
Select item 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic
Select item 2685221	GRCh37/hg19 Xp22.31(chrX:6658871-8110243)x0	PNPLA4, PUDP +2 more	Copy number loss	not provided	GPathogenic
Select item 2685110	GRCh37/hg19 Xp22.31(chrX:6591135-9498909)x0	ANOS1, FAM9A +8 more	Copy number loss	not provided	GPathogenic
Select item 2684396	GRCh37/hg19 Xp22.31(chrX:6568478-7898751)x0	PNPLA4, PUDP +2 more	Copy number loss	not provided	GPathogenic
Select item 1809291	GRCh37/hg19 Xp22.31(chrX:6647161-8760719)x1	ANOS1, FAM9A +6 more	Copy number loss	not provided	GPathogenic
Select item 1808747	GRCh37/hg19 Xp22.31(chrX:6991617-7784674)x2	PUDP, STS	Copy number gain	not provided	GUncertain significance
Select item 1808678	GRCh37/hg19 Xp22.33-22.2(chrX:2703633-14515021)x2	AMELX, ANOS1 +42 more	Copy number gain	not provided	GPathogenic
Select item 1808630	GRCh37/hg19 Xp22.33-22.2(chrX:1932788-9676331)x1	ANOS1, ARSD +19 more	Copy number loss	not provided	GLikely pathogenic
Select item 1807900	GRCh37/hg19 Xp22.33-22.31(chrX:1626596-7832236)x3	ARSD, ARSD-AS1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 1807764	GRCh37/hg19 Xp22.31(chrX:6658781-8760719)x1	ANOS1, FAM9A +6 more	Copy number loss	not provided	GPathogenic
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RADX, RAI2 +818 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	GPM6B, KLHL15 +818 more	Copy number gain	not provided	GPathogenic
Select item 1341122	GRCh37/hg19 Xp22.31(chrX:6722953-7570280)x0	PUDP, STS	Copy number loss	not provided	GPathogenic
Select item 1340200	GRCh37/hg19 Xp22.31(chrX:6112444-8257510)x2	NLGN4X, PNPLA4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 980843	GRCh37/hg19 Xp22.31(chrX:7168745-7754214)x3	STS	Copy number gain	not provided	GUncertain significance
Select item 980842	GRCh37/hg19 Xp22.31(chrX:7000688-7241455)x2	PUDP, STS	Copy number gain	not provided	GUncertain significance
Select item 980841	GRCh37/hg19 Xp22.31(chrX:7266135-7391892)x3	STS	Copy number gain	not provided	GUncertain significance
Select item 980840	GRCh37/hg19 Xp22.31(chrX:7266135-7366211)x3	STS	Copy number gain	not provided	GUncertain significance
Select item 980837	GRCh37/hg19 Xp22.31(chrX:6715352-7806067)x0	PUDP, STS	Copy number loss	not provided	GPathogenic
Select item 816622	GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1	FANCB, ARSD-AS1 +125 more	Copy number loss	not provided	GPathogenic
Select item 816294	GRCh37/hg19 Xp22.31(chrX:7252959-7391892)x2	STS	Copy number gain	not provided	GUncertain significance
Select item 816293	GRCh37/hg19 Xp22.31(chrX:6896604-7887498)x1	VCX, STS +2 more	Copy number loss	not provided	GPathogenic
Select item 816292	GRCh37/hg19 Xp22.31(chrX:6784328-8071202)x0	PNPLA4, PUDP +2 more	Copy number loss	not provided	GPathogenic
Select item 816291	GRCh37/hg19 Xp22.31(chrX:6696273-7399447)x2	PUDP, STS	Copy number gain	not provided	GUncertain significance
Select item 816281	GRCh37/hg19 Xp22.33-22.12(chrX:1240318-20986848)x2	FAM9B, AMELX +82 more	Copy number gain	not provided	GPathogenic
Select item 816270	GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1	ACE2, ACOT9 +305 more	Copy number loss	not provided	GPathogenic
Select item 816269	GRCh37/hg19 Xp22.33-22.11(chrX:537158-22883547)x1	TCEANC, CLTRN +90 more	Copy number loss	not provided	GPathogenic
Select item 816248	GRCh37/hg19 Xp22.33-22.31(chrX:168546-8503210)x1	VCX, VCX2 +16 more	Copy number loss	not provided	GPathogenic
Select item 816245	GRCh37/hg19 Xp22.33-22.13(chrX:168546-17502124)x1	GRPR, STS +66 more	Copy number loss	not provided	GPathogenic
Select item 816240	GRCh37/hg19 Xp22.33-22.31(chrX:1-7810731)x2	VCX3A, ARSH +12 more	Copy number gain	not provided	GPathogenic
Select item 564771	GRCh37/hg19 Xp22.31(chrX:7200568-8003899)x3	STS, VCX +1 more	Copy number gain	not provided	GUncertain significance
Select item 564770	GRCh37/hg19 Xp22.31(chrX:7143912-7185127)x0	STS	Copy number loss	not provided	GPathogenic
Select item 564769	GRCh37/hg19 Xp22.31(chrX:7039463-7249352)x2	STS, PUDP	Copy number gain	not provided	GUncertain significance
Select item 564768	GRCh37/hg19 Xp22.31(chrX:6912488-7360874)x3	PUDP, STS	Copy number gain	not provided	GUncertain significance
Select item 564767	GRCh37/hg19 Xp22.31(chrX:6896604-7781813)x2	STS, PUDP	Copy number gain	not provided	GUncertain significance
Select item 564766	GRCh37/hg19 Xp22.31(chrX:6759774-7766481)x1	PUDP, STS	Copy number loss	not provided	GPathogenic
Select item 564765	GRCh37/hg19 Xp22.31(chrX:6709092-8135053)x0	STS, VCX +2 more	Copy number loss	not provided	GPathogenic
Select item 564764	GRCh37/hg19 Xp22.31(chrX:6631977-8135644)x3	VCX, PNPLA4 +2 more	Copy number gain	not provided	GUncertain significance
Select item 564763	GRCh37/hg19 Xp22.31(chrX:6621975-7329173)x3	STS, PUDP	Copy number gain	not provided	GUncertain significance
Select item 564762	GRCh37/hg19 Xp22.31(chrX:6598868-7966755)x1	STS, PNPLA4 +2 more	Copy number loss	not provided	GPathogenic
Select item 564761	GRCh37/hg19 Xp22.31(chrX:6577106-8041392)x0	PUDP, VCX +2 more	Copy number loss	not provided	GPathogenic
Select item 564760	GRCh37/hg19 Xp22.31(chrX:6542443-7951092)x0	PUDP, PNPLA4 +2 more	Copy number loss	not provided	GPathogenic
Select item 564759	GRCh37/hg19 Xp22.31(chrX:6500765-8135644)x3	PNPLA4, PUDP +2 more	Copy number gain	not provided	GUncertain significance
Select item 564758	GRCh37/hg19 Xp22.31(chrX:6455151-8128200)x3	PNPLA4, STS +2 more	Copy number gain	not provided	GUncertain significance
Select item 564757	GRCh37/hg19 Xp22.31(chrX:6449236-8135644)x0	PNPLA4, PUDP +3 more	Copy number loss	not provided	GPathogenic
Select item 564756	GRCh37/hg19 Xp22.31(chrX:6449233-8135644)x2	STS, PUDP +3 more	Copy number gain	not provided	GUncertain significance
Select item 564755	GRCh37/hg19 Xp22.31(chrX:6448751-8135644)x1	VCX, PNPLA4 +3 more	Copy number loss	not provided	GPathogenic
Select item 564754	GRCh37/hg19 Xp22.31(chrX:6448751-8135644)x3	PNPLA4, VCX3A +3 more	Copy number gain	not provided	GUncertain significance
Select item 564753	GRCh37/hg19 Xp22.31(chrX:6429319-8135644)x3	VCX, STS +3 more	Copy number gain	not provided	GUncertain significance
Select item 564742	GRCh37/hg19 Xp22.33-22.31(chrX:2051958-8135053)x1	STS, GYG2 +13 more	Copy number loss	not provided	GUncertain significance
Select item 564698	GRCh37/hg19 Xp22.33-22.12(chrX:201704-20682168)x3	ANOS1, FANCB +82 more	Copy number gain	not provided	GPathogenic
Select item 564696	GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1	ACE2, ACOT9 +170 more	Copy number loss	not provided	GPathogenic
Select item 564695	GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1	ACE2, ACOT9 +154 more	Copy number loss	not provided	GPathogenic
Select item 564694	GRCh37/hg19 Xp22.33-22.11(chrX:168546-23785738)x1	PRDX4, ADGRG2 +94 more	Copy number loss	not provided	GPathogenic
Select item 564693	GRCh37/hg19 Xp22.33-22.13(chrX:168546-18601364)x1	STS, OFD1 +71 more	Copy number loss	not provided	GPathogenic
Select item 564692	GRCh37/hg19 Xp22.33-22.2(chrX:168546-16404364)x1	FRMPD4, AP1S2 +59 more	Copy number loss	not provided	GPathogenic
Select item 564691	GRCh37/hg19 Xp22.33-22.31(chrX:168546-7796566)x1	MXRA5, ARSH +11 more	Copy number loss	not provided	GPathogenic

ClinVar

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Germline classification

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Items: 61