ClinVar for Gene (Select 253175) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 31

	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 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 153414	GRCh38/hg38 Yq11.21-12(chrY:10624004-57190586)x0	BPY2, BPY2B +77 more	Copy number loss	See cases	GPathogenic
Select item 153038	GRCh38/hg38 Yq11.223-11.23(chrY:23127722-24882383)x0	BPY2B, CDY1B +8 more	Copy number loss	See cases	GLikely benign
Select item 153001	GRCh38/hg38 Yq11.223-11.23(chrY:23132736-24882383)x0	BPY2B, CDY1B +8 more	Copy number loss	See cases	GBenign
Select item 152980	GRCh38/hg38 Yq11.223-11.23(chrY:23127736-24882383)x0	BPY2B, CDY1B +8 more	Copy number loss	See cases	GBenign
Select item 152910	GRCh38/hg38 Yp11.31-q12(chrY:378139-57181562)x1	AKAP17A, AMELY +158 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 150476	GRCh38/hg38 Yp11.2-q12(chrY:2133003-56884424)x0	AMELY, BPY2 +129 more	Copy number loss	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 149291	GRCh38/hg38 Yq11.223-11.23(chrY:22727003-25749348)x0	DAZ1, DAZ2 +18 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 147693	GRCh38/hg38 Yp11.2-q11.23(chrY:2855704-24288951)x2	AMELY, BPY2 +110 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 146622	GRCh38/hg38 Yq11.221-12(chrY:15631816-57211010)x0	BPY2, BPY2B +65 more	Copy number loss	See cases	GPathogenic
Select item 146481	GRCh38/hg38 Yq11.222-12(chrY:18664321-26637948)x2	BPY2, BPY2B +47 more	Copy number gain	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 145999	GRCh38/hg38 Yq11.221-12(chrY:12965721-57212647)x0	LOC107838685, LOC108004538 +74 more	Copy number loss	See cases	GPathogenic
Select item 145972	GRCh38/hg38 Yq11.223-11.23(chrY:21927773-26133012)x0	BPY2, BPY2B +26 more	Copy number loss	See cases	GPathogenic
Select item 145971	GRCh38/hg38 Yq11.223-11.23(chrY:21927773-26133012)x3	BPY2, BPY2B +26 more	Copy number gain	See cases	GBenign
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 144388	GRCh38/hg38 Yq11.221-12(chrY:14076802-57165209)x0	BPY2, BPY2B +66 more	Copy number loss	See cases	GPathogenic
Select item 60454	GRCh38/hg38 Yq11.223-11.23(chrY:22728116-24198731)x2	BPY2, CDY1B +6 more	Copy number gain	See cases	GUncertain significance
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 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 58764	GRCh38/hg38 Yp11.2-q12(chrY:2783624-26637948)x2	AMELY, BPY2 +124 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 31