TBL1Y[gene] - ClinVar

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Search results

Items: 81

	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 148538	GRCh38/hg38 Yp11.2(chrY:5874108-7106335)x0	AMELY, FAM197Y9 +10 more	Copy number loss	See cases	GLikely benign
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
Select item 625467	NM_033284.2(TBL1Y):c.206A>T (p.Asp69Val)	LOC126057105, TBL1Y (D69V)	Single nucleotide variant (missense variant)	Deafness, Y-linked 2	GPathogenic
Select item 2661885	NM_033284.2(TBL1Y):c.224G>T (p.Ser75Ile)	LOC126057105, TBL1Y (S75I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3033002	NM_033284.2(TBL1Y):c.413G>A (p.Arg138Gln)	LOC126057105, TBL1Y (R138Q)	Single nucleotide variant (missense variant)	TBL1Y-related disorder	GLikely benign
Select item 719064	NM_033284.2(TBL1Y):c.457+1G>C	LOC126057105, TBL1Y	Single nucleotide variant (splice donor variant)	Deafness, Y-linked 2 +1 more	GBenign/Likely benign
Select item 3032479	NM_033284.2(TBL1Y):c.490G>A (p.Asp164Asn)	TBL1Y (D164N)	Single nucleotide variant (missense variant)	TBL1Y-related disorder	GLikely benign
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 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)	TTTY8B, TTTY9A +82 more	Copy number gain	Global developmental delay	GPathogenic
Select item 1703656	GRCh37/hg19 Yp11.31-11.2(chrY:2650140-7114097)	AMELY, FAM197Y9 +13 more	Copy number gain	46,XX sex reversal 1	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 979249	GRCh37/hg19 Yp11.2(chrY:6148517-6818671)x2	TTTY1B, TTTY21B +5 more	Copy number gain	not provided	GUncertain significance
Select item 870517	GRCh37/hg19 Yp11.31-11.2(chrY:2650140-7019586)x1	AMELY, FAM197Y9 +13 more	Copy number gain	Sex reversal	GPathogenic
Select item 816428	GRCh37/hg19 Yp11.2(chrY:6371105-7342674)x2	AMELY, TBL1Y	Copy number gain	not provided	GUncertain significance
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	AMELY, BPY2 +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)	TMSB4Y, TSPY1 +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 564953	GRCh37/hg19 Yp11.2(chrY:6172979-6975071)x0	AMELY, TBL1Y +5 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 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, 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 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	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 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

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Items: 81