9084[geneid] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 488031	Single allele	LINC00685, LOC101929148 +160 more	Duplication	Autism	GLikely pathogenic
Select item 148481	GRCh38/hg38 Yp11.32-q11.222(chrY:10701-17951506)x0	AKAP17A, AMELY +101 more	Copy number loss	See cases	GPathogenic
Select item 146390	GRCh38/hg38 Yp11.32-q12(chrY:10701-57189762)x0	AKAP17A, AMELY +162 more	Copy number loss	See cases	GPathogenic
Select item 146389	GRCh38/hg38 Yp11.32-q12(chrY:10701-57189762)	AKAP17A, AMELY +162 more	Copy number loss	See cases	GPathogenic
Select item 152910	GRCh38/hg38 Yp11.31-q12(chrY:378139-57181562)x1	AKAP17A, AMELY +158 more	Copy number loss	See cases	GPathogenic
Select item 150476	GRCh38/hg38 Yp11.2-q12(chrY:2133003-56884424)x0	AMELY, BPY2 +129 more	Copy number loss	See cases	GPathogenic
Select item 151963	GRCh38/hg38 Yp11.2-q11.222(chrY:2782272-17454794)x2	FAM197Y7, FAM197Y8 +64 more	Copy number gain	See cases	GPathogenic
Select item 58764	GRCh38/hg38 Yp11.2-q12(chrY:2783624-26637948)x2	AMELY, BPY2 +124 more	Copy number gain	See cases	GPathogenic
Select item 146874	GRCh38/hg38 Yp11.2-q11.23(chrY:2786596-26575961)x0	TTTY3B, TTTY4 +124 more	Copy number loss	See cases	GPathogenic
Select item 58799	GRCh38/hg38 Yp11.2-q11.23(chrY:2786811-26483746)x2	FAM197Y5, FAM197Y6 +124 more	Copy number gain	See cases	GPathogenic
Select item 58798	GRCh38/hg38 Yp11.2-q11.23(chrY:2786811-26463830)x2	AMELY, BPY2 +124 more	Copy number gain	See cases	GPathogenic
Select item 57270	GRCh38/hg38 Yp11.2-q11.223(chrY:2786811-22358529)x2	AMELY, CDY2A +100 more	Copy number gain	See cases	GPathogenic
Select item 60442	GRCh38/hg38 Yp11.2-q11.223(chrY:2787210-22302412)x2	FAM197Y5, FAM197Y6 +100 more	Copy number gain	See cases	GPathogenic
Select item 57173	GRCh38/hg38 Yp11.2-q11.223(chrY:2788370-20525326)x2	TTTY2, TTTY20 +85 more	Copy number gain	See cases	GPathogenic
Select item 147693	GRCh38/hg38 Yp11.2-q11.23(chrY:2855704-24288951)x2	AMELY, BPY2 +110 more	Copy number gain	See cases	GPathogenic
Select item 144552	GRCh38/hg38 Yp11.2-q11.222(chrY:6255441-18435984)x2	AMELY, CDY2A +61 more	Copy number gain	See cases	GPathogenic
Select item 145476	GRCh38/hg38 Yp11.2-q11.23(chrY:6270281-26463761)x0	TMSB4Y, TSPY1 +112 more	Copy number loss	See cases	GPathogenic
Select item 60444	GRCh38/hg38 Yp11.2-q11.23(chrY:6478684-26574618)x2	AMELY, BPY2 +106 more	Copy number gain	See cases	GPathogenic
Select item 153414	GRCh38/hg38 Yq11.21-12(chrY:10624004-57190586)x0	BPY2, BPY2B +77 more	Copy number loss	See cases	GPathogenic
Select item 155354	GRCh38/hg38 Yq11.21-12(chrY:11680193-26653790)x4	BPY2, BPY2B +72 more	Copy number gain	See cases	GLikely pathogenic
Select item 154030	GRCh38/hg38 Yq11.221-12(chrY:12702930-26653790)x1	BPY2, BPY2B +70 more	Copy number gain	See cases	GPathogenic
Select item 153797	GRCh38/hg38 Yq11.221-12(chrY:12881571-26653790)x1	BPY2, BPY2B +69 more	Copy number gain	See cases	GLikely benign
Select item 145999	GRCh38/hg38 Yq11.221-12(chrY:12965721-57212647)x0	LOC107838685, LOC108004538 +74 more	Copy number loss	See cases	GPathogenic
Select item 145800	GRCh38/hg38 Yq11.221(chrY:13879546-14054658)x2	VCY	Copy number gain	See cases	GBenign
Select item 147317	GRCh38/hg38 Yq11.221-11.223(chrY:13908860-22358529)x1	CDY2A, CDY2B +40 more	Copy number gain	See cases	GPathogenic
Select item 145189	GRCh38/hg38 Yq11.221(chrY:13966017-14054658)x2	VCY	Copy number gain	See cases	GBenign
Select item 3148873	GRCh37/hg19 Yp11.31-q11.222(chrY:2650425-20609790)x2	AMELY, CDY2A +42 more	Copy number gain	not provided	GPathogenic
Select item 1808617	GRCh37/hg19 Yq11.21-12(chrY:14370813-59373566)x0	BPY2, BPY2B +47 more	Copy number loss	not provided	GPathogenic
Select item 1703659	GRCh37/hg19 Yp11.32-q12(chrY:1-59373566)	TTTY8B, TTTY9A +82 more	Copy number gain	Global developmental delay	GPathogenic
Select item 1676303	GRCh37/hg19 Yq11.21-11.23(chrY:13905421-28799654)	RBMY1A1, RBMY1B +46 more	Copy number loss	not provided	GPathogenic
Select item 1676302	GRCh37/hg19 Yp11.31-q11.23(chrY:2650424-28799654)	PRORY, PRY +81 more	Copy number loss	not provided	GPathogenic
Select item 870528	GRCh37/hg19 Yq11.221-11.23(chrY:15427283-28799937)x0	BPY2, BPY2B +43 more	Copy number loss	Male infertility	GPathogenic
Select item 870527	GRCh37/hg19 Yq11.21-11.23(chrY:13800703-28799937)x0	TTTY15, TTTY17A +46 more	Copy number loss	Male infertility	GPathogenic
Select item 870521	GRCh37/hg19 Yq11.21-11.223(chrY:14495040-24070172)x0	CDY2A, DDX3Y +23 more	Copy number loss	Male infertility	GPathogenic
Select item 816423	GRCh37/hg19 Yp11.32-q11.23(chrY:168546-28799937)x2	AMELY, BPY2 +81 more	Copy number gain	not provided	GPathogenic
Select item 687368	GRCh37/hg19 Yq11.221-12(chrY:16053146-59343488)x2	RBMY1J, RPS4Y2 +41 more	Copy number gain	not provided	GPathogenic
Select item 686904	GRCh37/hg19 Yq11.221-12(chrY:15190336-59343488)x0	BPY2, BPY2B +43 more	Copy number loss	not provided	GPathogenic
Select item 686297	GRCh37/hg19 Yp11.31-q11.222(chrY:2650140-20619847)x2	AMELY, CDY2A +42 more	Copy number gain	not provided	GPathogenic
Select item 685272	GRCh37/hg19 Yp11.32-q11.222(chrY:118546-20603124)x2	AMELY, CDY2A +42 more	Copy number gain	not provided	GPathogenic
Select item 625648	GRCh37/hg19 Yp11.32-q11.221(chrY:1640371-19565713)	AMELY, DDX3Y +41 more	Copy number gain	not provided	GPathogenic
Select item 625647	GRCh37/hg19 Yp11.32-q11.221(chrY:588444-19565713)	AMELY, DDX3Y +41 more	Copy number gain	not provided	GPathogenic
Select item 625646	GRCh37/hg19 Yp11.31-q11.223(chrY:2650278-24445033)	TMSB4Y, TSPY1 +62 more	Copy number gain	not provided	GPathogenic
Select item 564970	GRCh37/hg19 Yq11.21-12(chrY:13410538-59032808)x0	RBMY1J, RPS4Y2 +46 more	Copy number loss	not provided	GPathogenic
Select item 564969	GRCh37/hg19 Yp11.31-q11.223(chrY:2650140-24070172)x2	AMELY, CDY2A +58 more	Copy number gain	not provided	GPathogenic
Select item 443959	GRCh37/hg19 Yp11.31-q11.23(chrY:2650141-28799937)x0	TSPY10, TSPY2 +81 more	Copy number loss	See cases	GPathogenic
Select item 443958	GRCh37/hg19 Yp11.31-q11.23(chrY:2650141-28799937)x2	AMELY, BPY2 +81 more	Copy number gain	See cases	GUncertain significance
Select item 443056	GRCh37/hg19 Yq11.21-11.221(chrY:14844481-16824498)x0	DDX3Y, NLGN4Y +5 more	Copy number loss	See cases	GPathogenic
Select item 442867	GRCh37/hg19 Yp11.32-q12(chrY:1684070-36905226)x3	AMELY, BPY2 +81 more	Copy number gain	See cases	GUncertain significance
Select item 441997	GRCh37/hg19 Yq11.21-12(chrY:13871147-59336737)x0	BPY2, BPY2B +46 more	Copy number loss	See cases	GPathogenic
Select item 441580	GRCh37/hg19 Yp11.32-q11.23(chrY:168546-28451874)x1	AMELY, BPY2 +81 more	Copy number loss	See cases	GPathogenic
Select item 395689	GRCh37/hg19 Yp11.32-q12(chrY:20297-59356174)	AMELY, BPY2 +82 more	Copy number loss	See cases	GPathogenic
Select item 394909	GRCh37/hg19 Yq11.221-12(chrY:15415024-59349591)x0	BPY2, BPY2B +44 more	Copy number loss	See cases	GPathogenic
Select item 253653	GRCh37/hg19 Yp11.32-q12(chrY:100002-59353228)x2	AMELY, BPY2 +82 more	Copy number gain	See cases	GPathogenic
Select item 253625	GRCh37/hg19 Yp11.32-q12(chrY:10701-59349277)x1	AMELY, BPY2 +82 more	Copy number loss	See cases	GPathogenic
Select item 253609	GRCh37/hg19 Yp11.32-q12(chrY:126426-59353228)x2	AMELY, BPY2 +82 more	Copy number gain	See cases	GPathogenic
Select item 253542	GRCh37/hg19 Yp11.32-q12(chrY:21267-59337042)x2	AMELY, BPY2 +81 more	Copy number gain	See cases	GPathogenic
Select item 253518	GRCh37/hg19 Yp11.32-q12(chrY:21267-59349649)x2	RBMY1J, RPS4Y1 +82 more	Copy number gain	See cases	GPathogenic
Select item 253481	GRCh37/hg19 Yp11.32-q12(chrY:126426-59349649)x2	AMELY, BPY2 +82 more	Copy number gain	See cases	GPathogenic
Select item 253428	GRCh37/hg19 Yp11.32-q12(chrY:20297-59358845)x2	TSPY3, TSPY4 +82 more	Copy number gain	See cases	GPathogenic
Select item 161065	GRCh37/hg19 Yp11.31-q12(chrY:2654852-59031480)x2	AMELY, BPY2 +81 more	Copy number gain	See cases	GPathogenic
Select item 149400	GRCh37/hg19 Yp11.31-q12(chrY:2650559-59032389)x2	AMELY, BPY2 +81 more	Copy number gain	See cases	GPathogenic
Select item 144191	GRCh37/hg19 Yp11.31-q12(chrY:2654852-59031480)x0	AMELY, BPY2 +81 more	Copy number loss	See cases	GPathogenic
Select item 144190	GRCh37/hg19 Yp11.31-q12(chrY:2654852-59031480)x3	DAZ3, DAZ4 +81 more	Copy number gain	See cases	GPathogenic
Select item 58796	GRCh37/hg19 Yp11.3-q12(chrY:2651665-59031480)x2	AMELY, BPY2 +81 more	Copy number gain	See cases	GPathogenic
Select item 57175	GRCh37/hg19 Yq11.21-12(chrY:14698756-59031480)x0	BPY2, BPY2B +46 more	Copy number loss	See cases	GPathogenic

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Items: 65