ClinVar for Gene (Select 83867) - ClinVar

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

Links from Gene

Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148955	GRCh37/hg19 Yp11.2(chrY:6135451-9171486)x0	AMELY, TBL1Y +12 more	Copy number loss	See cases	GUncertain significance
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 2685210	GRCh37/hg19 Yp11.2(chrY:7102172-9747445)x0	FAM197Y1P, TSPY1 +17 more	Copy number loss	not provided	GUncertain significance
Select item 1708270	GRCh37/hg19 Yp11.31-11.2(chrY:2650140-9651417)x1	AMELY, FAM197Y1P +32 more	Copy number loss	Klinefelter syndrome	GPathogenic
Select item 1703659	GRCh37/hg19 Yp11.32-q12(chrY:1-59373566)	NLGN4Y, PCDH11Y +82 more	Copy number gain	Global developmental delay	GPathogenic
Select item 1676302	GRCh37/hg19 Yp11.31-q11.23(chrY:2650424-28799654)	NLGN4Y, PCDH11Y +81 more	Copy number loss	not provided	GPathogenic
Select item 816427	GRCh37/hg19 Yp11.2(chrY:6172777-9168128)x0	AMELY, TBL1Y +12 more	Copy number loss	not provided	GLikely benign
Select item 816426	GRCh37/hg19 Yp11.2(chrY:6152464-8586717)x3	AMELY, TBL1Y +9 more	Copy number gain	not provided	GLikely benign
Select item 816425	GRCh37/hg19 Yp11.2(chrY:6135412-9155562)x2	AMELY, TBL1Y +11 more	Copy number gain	not provided	GUncertain significance
Select item 816423	GRCh37/hg19 Yp11.32-q11.23(chrY:168546-28799937)x2	FAM197Y9, HSFY1 +81 more	Copy number gain	not provided	GPathogenic
Select item 816422	GRCh37/hg19 Yp11.32-q11.221(chrY:1-16095773)x2	AMELY, DDX3Y +38 more	Copy number gain	not provided	GPathogenic
Select item 686903	GRCh37/hg19 Yp11.32-q11.221(chrY:201704-15182563)x2	AMELY, DDX3Y +36 more	Copy number gain	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)	DDX3Y, CDY2A +62 more	Copy number gain	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 564968	GRCh37/hg19 Yp11.32-q11.1(chrY:168807-13134517)x1,2	AMELY, FAM197Y1P +33 more	Copy number gain	not provided	GPathogenic
Select item 564967	GRCh37/hg19 Yp11.31-q11.221(chrY:2650140-15125858)x0	AMELY, DDX3Y +36 more	Copy number loss	not provided	GPathogenic
Select item 564959	GRCh37/hg19 Yp11.2(chrY:6138309-9168128)x0	AMELY, TBL1Y +12 more	Copy number loss	not provided	GLikely benign
Select item 564958	GRCh37/hg19 Yp11.2(chrY:6172979-9172727)x0	AMELY, TBL1Y +12 more	Copy number loss	not provided	GLikely benign
Select item 488031	Single allele	LOC106128902, LOC106144556 +160 more	Duplication	Autism	GLikely pathogenic
Select item 443959	GRCh37/hg19 Yp11.31-q11.23(chrY:2650141-28799937)x0	AMELY, BPY2 +81 more	Copy number loss	See cases	GPathogenic
Select item 443958	GRCh37/hg19 Yp11.31-q11.23(chrY:2650141-28799937)x2	FAM197Y10, AMELY +81 more	Copy number gain	See cases	GUncertain significance
Select item 443945	GRCh37/hg19 Yp11.2(chrY:6356262-9155955)x0	AMELY, TBL1Y +6 more	Copy number loss	See cases	GLikely benign
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 442156	GRCh37/hg19 Yp11.2(chrY:6118157-9180657)x2	AMELY, FAM197Y9 +14 more	Copy number gain	See cases	GLikely benign
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 253653	GRCh37/hg19 Yp11.32-q12(chrY:100002-59353228)x2	AMELY, FAM197Y10 +82 more	Copy number gain	See cases	GPathogenic
Select item 253625	GRCh37/hg19 Yp11.32-q12(chrY:10701-59349277)x1	TTTY9B, USP9Y +82 more	Copy number loss	See cases	GPathogenic
Select item 253609	GRCh37/hg19 Yp11.32-q12(chrY:126426-59353228)x2	FAM197Y1P, FAM197Y9 +82 more	Copy number gain	See cases	GPathogenic
Select item 253556	GRCh37/hg19 Yp11.32-q11.221(chrY:100002-15906224)x2	AMELY, DDX3Y +38 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	TSPY2, TSPY3 +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	TBL1Y, TGIF2LY +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 155352	GRCh38/hg38 Yp11.31-q11.21(chrY:301880-11680029)x3	AKAP17A, AMELY +83 more	Copy number gain	See cases	GLikely pathogenic
Select item 153094	GRCh38/hg38 Yp11.2(chrY:6724827-8695905)x2	AMELY, LINC00279 +6 more	Copy number gain	See cases	GUncertain significance
Select item 152910	GRCh38/hg38 Yp11.31-q12(chrY:378139-57181562)x1	AKAP17A, AMELY +158 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 150476	GRCh38/hg38 Yp11.2-q12(chrY:2133003-56884424)x0	AMELY, BPY2 +129 more	Copy number loss	See cases	GPathogenic
Select item 149752	GRCh38/hg38 Yp11.2(chrY:6234800-8705376)x2	AMELY, FAM197Y9 +16 more	Copy number gain	See cases	GLikely benign
Select item 149400	GRCh37/hg19 Yp11.31-q12(chrY:2650559-59032389)x2	AMELY, BPY2 +81 more	Copy number gain	See cases	GPathogenic
Select item 149025	GRCh38/hg38 Yp11.2(chrY:6590056-8773201)x0	AMELY, LINC00279 +7 more	Copy number loss	See cases	GLikely benign
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 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	AMELY, BPY2 +124 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 146332	GRCh38/hg38 Yp11.32-q11.221(chrY:10679-13139461)x0	AKAP17A, AMELY +88 more	Copy number loss	See cases	GPathogenic
Select item 145476	GRCh38/hg38 Yp11.2-q11.23(chrY:6270281-26463761)x0	AMELY, BPY2 +112 more	Copy number loss	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 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	RBMY1E, RBMY1F +81 more	Copy number gain	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 60443	GRCh38/hg38 Yp11.2(chrY:2863399-9007152)x2	TTTY7, TTTY8B +24 more	Copy number gain	See cases	GPathogenic
Select item 60442	GRCh38/hg38 Yp11.2-q11.223(chrY:2787210-22302412)x2	AMELY, CDY2A +100 more	Copy number gain	See cases	GPathogenic
Select item 58799	GRCh38/hg38 Yp11.2-q11.23(chrY:2786811-26483746)x2	AMELY, BPY2 +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 58796	GRCh37/hg19 Yp11.3-q12(chrY:2651665-59031480)x2	AMELY, BPY2 +81 more	Copy number gain	See cases	GPathogenic
Select item 58793	GRCh38/hg38 Yp11.2-q11.221(chrY:2783624-13011793)x2	AMELY, DDX3Y +54 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 57576	GRCh38/hg38 Yp11.2(chrY:6724827-9007152)x0	AMELY, LINC00279 +8 more	Copy number loss	See cases	GUncertain significance
Select item 57321	GRCh38/hg38 Yp11.2(chrY:2786811-9007152)x2	AMELY, FAM197Y9 +26 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 57173	GRCh38/hg38 Yp11.2-q11.223(chrY:2788370-20525326)x2	TTTY2, TTTY20 +85 more	Copy number gain	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: 69