ClinVar for Gene (Select 5940) - ClinVar

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

Links from Gene

Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2689863	NM_005058.4(RBMY1A1):c.1097G>T (p.Gly366Val)	RBMY1A1 (G226V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2685222	GRCh37/hg19 Yq11.221-11.23(chrY:18921311-28799937)x0	HSFY1, BPY2 +38 more	Copy number loss	not provided	GPathogenic
Select item 1809083	GRCh37/hg19 Yq11.221-12(chrY:16203971-59336737)x0	HSFY2, KDM5D +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)	NLGN4Y, PCDH11Y +82 more	Copy number gain	Global developmental delay	GPathogenic
Select item 1676303	GRCh37/hg19 Yq11.21-11.23(chrY:13905421-28799654)	BPY2, BPY2B +46 more	Copy number loss	not provided	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 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	BPY2, BPY2B +46 more	Copy number loss	Male infertility	GPathogenic
Select item 870526	GRCh37/hg19 Yq11.222-11.23(chrY:21719615-28799937)x0	RBMY1A1, RBMY1B +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	BPY2, BPY2B +38 more	Copy number loss	Male infertility	GPathogenic
Select item 870519	GRCh37/hg19 Yq11.221-11.23(chrY:18546605-28799937)x0	BPY2, BPY2B +38 more	Copy number loss	Male infertility	GPathogenic
Select item 870512	GRCh37/hg19 Yq11.222-11.23(chrY:20608554-28799937)x0	BPY2, BPY2B +37 more	Copy number loss	Male infertility	GPathogenic
Select item 816444	GRCh37/hg19 Yq11.223(chrY:23553019-23841524)x0	FAM197Y10, RBMY1A1 +2 more	Copy number loss	not provided	GUncertain significance
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	FAM197Y9, HSFY1 +81 more	Copy number gain	not provided	GPathogenic
Select item 687368	GRCh37/hg19 Yq11.221-12(chrY:16053146-59343488)x2	BPY2, BPY2B +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	PRY, PRY2 +33 more	Copy number loss	not provided	GPathogenic
Select item 685271	GRCh37/hg19 Yq11.222-12(chrY:21035530-59336737)x0	TTTY17C, TTTY3 +33 more	Copy number loss	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 564970	GRCh37/hg19 Yq11.21-12(chrY:13410538-59032808)x0	BPY2, BPY2B +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	CDY2A, DAZ1 +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 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	TTTY17A, TTTY17B +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	DAZ2, DAZ3 +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)	TTTY22, TTTY23 +82 more	Copy number loss	See cases	GPathogenic
Select item 395566	GRCh37/hg19 Yq11.222-11.23(chrY:20359545-27839018)x2	BPY2, BPY2B +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	HSFY1, HSFY2 +44 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 253557	GRCh37/hg19 Yq11.221-12(chrY:16188682-59349649)x0	RPS4Y2, TTTY10 +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	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 155354	GRCh38/hg38 Yq11.21-12(chrY:11680193-26653790)x4	BPY2, BPY2B +72 more	Copy number gain	See cases	GLikely pathogenic
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 154595	GRCh38/hg38 Yq11.223(chrY:21034147-22358529)x2	FAM197Y10, LOC106144610 +10 more	Copy number gain	See cases	GUncertain significance
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	CDY2B, FAM197Y10 +77 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 151905	GRCh38/hg38 Yq11.223(chrY:21501831-21537646)x3	RBMY1A1, RBMY1B	Copy number gain	See cases	GBenign
Select item 151903	GRCh38/hg38 Yq11.223(chrY:21497255-21548911)x3	RBMY1A1, RBMY1B	Copy number gain	See cases	GBenign
Select item 151895	GRCh38/hg38 Yq11.223(chrY:21495366-21548911)x1	RBMY1A1, RBMY1B	Copy number loss	See cases	GBenign
Select item 151894	GRCh38/hg38 Yq11.223(chrY:21495366-21548911)x3	RBMY1A1, RBMY1B	Copy number gain	See cases	GBenign
Select item 151888	GRCh38/hg38 Yq11.223(chrY:21501703-21537646)x3	RBMY1A1, RBMY1B	Copy number gain	See cases	GBenign
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 149400	GRCh37/hg19 Yp11.31-q12(chrY:2650559-59032389)x2	AMELY, BPY2 +81 more	Copy number gain	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 147317	GRCh38/hg38 Yq11.221-11.223(chrY:13908860-22358529)x1	CDY2A, CDY2B +40 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 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 146480	GRCh37/hg19 Yq11.221-12(chrY:16183453-59011762)x2	BPY2, BPY2B +39 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	FAM224A, FAM224B +74 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 144388	GRCh38/hg38 Yq11.221-12(chrY:14076802-57165209)x0	BPY2, BPY2B +66 more	Copy number loss	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	AMELY, BPY2 +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 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 58764	GRCh38/hg38 Yp11.2-q12(chrY:2783624-26637948)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 57175	GRCh37/hg19 Yq11.21-12(chrY:14698756-59031480)x0	BPY2, BPY2B +46 more	Copy number loss	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: 84