ClinVar for Gene (Select 26769) - ClinVar - NCBI

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Links from Gene

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1321913	NC_000001.11:g.173787361_174223422del	CENPL, DARS2 +39 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 1321912	NC_000001.11:g.173850996_173950174del	LOC126805922, LOC126805923 +20 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 1321908	NC_000001.11:g.173848142_174816147del	DARS2, GAS5 +43 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 1321897	NC_000001.11:g.172987296_174843232del	KLHL20, LOC129388638 +84 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 1321890	NC_000001.11:g.173686375_176083118del	ANKRD45, CACYBP +88 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 1321889	NC_000001.11:g.173859535_173926473del	GAS5, GAS5-AS1 +17 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 1321886	NC_000001.11:g.173501975_175305010del	ANKRD45, CENPL +79 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 155225	GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1	LOC129388624, LOC129388625 +407 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932082, LOC129932083 +561 more	Copy number loss	See cases	GPathogenic
Select item 148038	GRCh38/hg38 1q24.2-25.2(chr1:169218236-178075834)x1	ANKRD45, ASTN1 +239 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	See cases	GPathogenic
Select item 60046	GRCh38/hg38 1q24.2-25.1(chr1:168314822-175299299)x1	ANKRD45, ATP1B1 +232 more	Copy number loss	See cases	GPathogenic
Select item 60045	GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1	ADCY10, ANKRD45 +332 more	Copy number loss	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic