MAPT-IT1[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic
Select item 148960	GRCh38/hg38 17q21.31(chr17:45516110-46211895)x1	CRHR1, KANSL1 +11 more	Copy number loss	See cases	GPathogenic
Select item 153206	GRCh38/hg38 17q21.31(chr17:45544831-46124104)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 154006	GRCh38/hg38 17q21.31(chr17:45571125-46137522)x1	LOC121852934, CRHR1 +9 more	Copy number loss	See cases	GPathogenic
Select item 148313	GRCh38/hg38 17q21.31(chr17:45574365-46273786)x1	CRHR1, KANSL1 +12 more	Copy number loss	See cases	GPathogenic
Select item 57524	GRCh38/hg38 17q21.31(chr17:45575861-46274278)x1	ARL17B, CRHR1 +13 more	Copy number loss	See cases	GPathogenic
Select item 160838	GRCh38/hg38 17q21.31(chr17:45578381-46273786)x1	CRHR1, KANSL1 +12 more	Copy number loss	See cases	GPathogenic
Select item 148153	GRCh38/hg38 17q21.31(chr17:45578381-46177048)x1	LOC121852934, CRHR1 +10 more	Copy number loss	See cases	GPathogenic
Select item 144496	GRCh38/hg38 17q21.31(chr17:45578381-46130670)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 57290	GRCh38/hg38 17q21.31(chr17:45578381-46111134)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 35239	GRCh38/hg38 17q21.31(chr17:45578381-46273786)x1	CRHR1, KANSL1 +12 more	Copy number loss	See cases	GPathogenic
Select item 150568	GRCh38/hg38 17q21.31(chr17:45579327-46661960)x1	ARL17A, ARL17B +19 more	Copy number loss	See cases	GPathogenic
Select item 150548	GRCh38/hg38 17q21.31(chr17:45579327-46130578)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 57525	GRCh38/hg38 17q21.31(chr17:45598042-46273786)x1	CRHR1, KANSL1 +12 more	Copy number loss	See cases	GPathogenic
Select item 57526	GRCh38/hg38 17q21.31(chr17:45616241-46136454)x1	LOC121852934, CRHR1 +9 more	Copy number loss	See cases	GPathogenic
Select item 155320	GRCh38/hg38 17q21.31(chr17:45626435-46110126)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 161014	GRCh38/hg38 17q21.31(chr17:45629520-46111134)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 148938	GRCh38/hg38 17q21.31(chr17:45629520-46094581)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 148520	GRCh38/hg38 17q21.31(chr17:45629520-46079192)x3	CRHR1, KANSL1 +9 more	Copy number gain	See cases	GUncertain significance
Select item 148451	GRCh38/hg38 17q21.31(chr17:45629520-46273786)x1	CRHR1, KANSL1 +12 more	Copy number loss	See cases	GPathogenic
Select item 145067	GRCh38/hg38 17q21.31(chr17:45629520-46130611)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 57538	GRCh38/hg38 17q21.31(chr17:45629520-46098805)x1	LOC121852934, CRHR1 +9 more	Copy number loss	See cases	GPathogenic
Select item 57528	GRCh38/hg38 17q21.31(chr17:45629520-46051878)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 57279	GRCh38/hg38 17q21.31(chr17:45629520-46061206)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 57050	GRCh38/hg38 17q21.31(chr17:45629520-46661960)x1	ARL17A, ARL17B +19 more	Copy number loss	See cases	GPathogenic
Select item 32010	GRCh38/hg38 17q21.31(chr17:45629520-46111134)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 57539	GRCh38/hg38 17q21.31(chr17:45637714-46118962)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 147646	GRCh38/hg38 17q21.31(chr17:45640337-46267672)x1	CRHR1, KANSL1 +12 more	Copy number loss	See cases	GPathogenic
Select item 57540	GRCh38/hg38 17q21.31(chr17:45640337-46273786)x1	CRHR1, KANSL1 +12 more	Copy number loss	See cases	GPathogenic
Select item 148620	GRCh38/hg38 17q21.31(chr17:45674308-45941967)x3	CRHR1, LINC02210-CRHR1 +6 more	Copy number gain	See cases	GUncertain significance
Select item 146297	GRCh38/hg38 17q21.31(chr17:45674308-45898400)x3	CRHR1, LINC02210-CRHR1 +6 more	Copy number gain	See cases	GUncertain significance
Select item 57541	GRCh38/hg38 17q21.31(chr17:45674308-46273786)x1	CRHR1, KANSL1 +11 more	Copy number loss	See cases	GPathogenic

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Items: 33