KDM5D[gene] - ClinVar

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Items: 78

	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 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 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 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 147317	GRCh38/hg38 Yq11.221-11.223(chrY:13908860-22358529)x1	CDY2A, CDY2B +40 more	Copy number gain	See cases	GPathogenic
Select item 149937	GRCh38/hg38 Yq11.221-12(chrY:14062885-57189762)x0	BPY2, BPY2B +67 more	Copy number loss	See cases	GPathogenic
Select item 144388	GRCh38/hg38 Yq11.221-12(chrY:14076802-57165209)x0	BPY2, BPY2B +66 more	Copy number loss	See cases	GPathogenic
Select item 146622	GRCh38/hg38 Yq11.221-12(chrY:15631816-57211010)x0	BPY2, BPY2B +65 more	Copy number loss	See cases	GPathogenic
Select item 151214	GRCh38/hg38 Yq11.221-12(chrY:16311571-57190586)x0	BPY2, BPY2B +64 more	Copy number loss	See cases	GPathogenic
Select item 148482	GRCh38/hg38 Yq11.222-12(chrY:18545732-57189762)x0	BPY2, BPY2B +55 more	Copy number loss	See cases	GPathogenic
Select item 154702	GRCh38/hg38 Yq11.222-11.223(chrY:18664321-22358529)x2	EIF1AY, FAM197Y10 +23 more	Copy number gain	See cases	GUncertain significance
Select item 146481	GRCh38/hg38 Yq11.222-12(chrY:18664321-26637948)x2	BPY2, BPY2B +47 more	Copy number gain	See cases	GPathogenic
Select item 32810	GRCh38/hg38 Yq11.222-12(chrY:18891467-57208726)x0	BPY2, BPY2B +51 more	Copy number loss	See cases	GPathogenic
Select item 3148874	GRCh37/hg19 Yq11.222-11.23(chrY:21035824-28799654)x0	BPY2, BPY2B +33 more	Copy number loss	not provided	GPathogenic
Select item 2685222	GRCh37/hg19 Yq11.221-11.23(chrY:18921311-28799937)x0	BPY2, BPY2B +38 more	Copy number loss	not provided	GPathogenic
Select item 1809083	GRCh37/hg19 Yq11.221-12(chrY:16203971-59336737)x0	BPY2, BPY2B +39 more	Copy number loss	not provided	GUncertain significance
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 870526	GRCh37/hg19 Yq11.222-11.23(chrY:21719615-28799937)x0	BPY2, BPY2B +32 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 870520	GRCh37/hg19 Yq11.222-11.23(chrY:20111978-28423925)x0	TTTY10, TTTY13 +38 more	Copy number loss	Male infertility	GPathogenic
Select item 870519	GRCh37/hg19 Yq11.221-11.23(chrY:18546605-28799937)x0	HSFY1, HSFY2 +38 more	Copy number loss	Male infertility	GPathogenic
Select item 870512	GRCh37/hg19 Yq11.222-11.23(chrY:20608554-28799937)x0	DAZ2, DAZ3 +37 more	Copy number loss	Male infertility	GPathogenic
Select item 816442	GRCh37/hg19 Yq11.221-11.23(chrY:19567361-28458663)x2	BPY2, BPY2B +38 more	Copy number gain	not provided	GLikely benign
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 686298	GRCh37/hg19 Yq11.222-11.23(chrY:21039792-28799937)x0	BPY2, BPY2B +33 more	Copy number loss	not provided	GPathogenic
Select item 685271	GRCh37/hg19 Yq11.222-12(chrY:21035530-59336737)x0	TTTY13, TTTY17C +33 more	Copy number loss	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 564966	GRCh37/hg19 Yq11.221-11.23(chrY:19574920-28423925)x2	RBMY1E, RBMY1F +38 more	Copy number gain	not provided	GLikely benign
Select item 564964	GRCh37/hg19 Yq11.222-11.223(chrY:20618887-24820716)x0	EIF1AY, FAM197Y10 +21 more	Copy number loss	not provided	GLikely benign
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 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 395566	GRCh37/hg19 Yq11.222-11.23(chrY:20359545-27839018)x2	DAZ2, DAZ3 +36 more	Copy number gain	See cases	GLikely benign
Select item 395225	GRCh37/hg19 Yq11.222-12(chrY:20805226-59336998)x0	BPY2, BPY2B +35 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 253557	GRCh37/hg19 Yq11.221-12(chrY:16188682-59349649)x0	TTTY4B, TTTY4C +40 more	Copy number loss	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 146480	GRCh37/hg19 Yq11.221-12(chrY:16183453-59011762)x2	BPY2, BPY2B +39 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: 78