LOC126057106[gene] - ClinVar

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

Search results

Items: 29

	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 146332	GRCh38/hg38 Yp11.32-q11.221(chrY:10679-13139461)x0	AKAP17A, AMELY +88 more	Copy number loss	See cases	GPathogenic
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 155352	GRCh38/hg38 Yp11.31-q11.21(chrY:301880-11680029)x3	AKAP17A, AMELY +83 more	Copy number gain	See cases	GLikely pathogenic
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 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 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 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 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 60443	GRCh38/hg38 Yp11.2(chrY:2863399-9007152)x2	TTTY7, TTTY8B +24 more	Copy number gain	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 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 150801	GRCh38/hg38 Yp11.2(chrY:6522413-7456335)x2	AMELY, LOC126057105 +2 more	Copy number gain	See cases	GLikely benign
Select item 149025	GRCh38/hg38 Yp11.2(chrY:6590056-8773201)x0	AMELY, LINC00279 +7 more	Copy number loss	See cases	GLikely benign
Select item 153094	GRCh38/hg38 Yp11.2(chrY:6724827-8695905)x2	AMELY, LINC00279 +6 more	Copy number gain	See cases	GUncertain significance
Select item 57576	GRCh38/hg38 Yp11.2(chrY:6724827-9007152)x0	AMELY, LINC00279 +8 more	Copy number loss	See cases	GUncertain significance
Select item 151892	GRCh38/hg38 Yp11.2(chrY:6768680-7463286)x4	AMELY, LOC126057105 +2 more	Copy number gain	See cases	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 29