ClinVar for Gene (Select 28591) - ClinVar

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Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	DYNC2I1, EN2 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	AGAP3, AGK +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 155692	GRCh37/hg19 7q34(chr7:141937588-142486548)x3	LOC113687199, LOC121201615 +58 more	Copy number gain	See cases	GUncertain significance
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	LOC129999666, LOC129999667 +1052 more	Copy number gain	See cases	GPathogenic
Select item 155657	GRCh38/hg38 7q34-35(chr7:140061285-144622893)x3	TRBC1, TRBC2 +230 more	Copy number gain	See cases	GUncertain significance
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	LOC129999503, LOC129999504 +1025 more	Copy number gain	See cases	GPathogenic
Select item 154745	GRCh38/hg38 7q34(chr7:142503036-142753745)x1	LOC121201615, LOC123956253 +26 more	Copy number loss	See cases	GLikely benign
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	TMEM140, TMEM176A +1046 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	LOC129999548, LOC129999549 +1547 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	LINC00996, LINC01003 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150307	GRCh38/hg38 7q34(chr7:142503036-142753076)x1	LOC121201615, LOC123956253 +26 more	Copy number loss	See cases	GLikely benign
Select item 149975	GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1	TRBC2, TRBD1 +455 more	Copy number loss	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	LOC129999653, LOC129999654 +1380 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	WDR86, WDR86-AS1 +944 more	Copy number loss	See cases	GPathogenic
Select item 148648	GRCh38/hg38 7q34(chr7:142237788-142779344)x3	LOC113687199, LOC121201615 +54 more	Copy number gain	See cases	GLikely benign
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	ABCB8, ABCF2 +707 more	Copy number loss	See cases	GPathogenic
Select item 147577	GRCh38/hg38 7q34(chr7:142416934-142605368)x1	LOC126860208, MIR11400 +23 more	Copy number loss	See cases	GBenign
Select item 147575	GRCh38/hg38 7q34(chr7:142355688-142605368)x1	LOC126860208, MIR11400 +28 more	Copy number loss	See cases	GBenign
Select item 147558	GRCh38/hg38 7q34(chr7:142355688-142553299)x1	LOC126860208, MIR11400 +21 more	Copy number loss	See cases	GBenign
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC111674474, LOC111674475 +2212 more	Copy number gain	See cases	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 144163	GRCh38/hg38 7q34-35(chr7:141126407-145652221)x3	AGK, AGK-DT +192 more	Copy number gain	See cases	GPathogenic
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	LOC129999649, LOC129999650 +737 more	Copy number loss	See cases	GPathogenic
Select item 60297	GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1	ADCK2, AGK +373 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	LOC129999526, LOC129999527 +908 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	ABCB8, ABCF2 +1019 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	C7orf33, CALD1 +1176 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 28