LOC129994989[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 154695	GRCh38/hg38 5q32-33.1(chr5:150356455-150688333)x3	CD74, LOC112997569 +43 more	Copy number gain	See cases	GUncertain significance
Select item 543946	NC_000005.10:g.(?_150387882)_(150399068_?)del	LOC129994988, LOC129994989 +1 more	Deletion	Treacher Collins syndrome 1	GPathogenic
Select item 477614	NC_000005.10:g.(?_150396282)_(150399070_?)del	LOC129994988, LOC129994989 +1 more	Deletion	Treacher Collins syndrome 1	GLikely pathogenic
Select item 584260	NC_000005.10:g.(?_150399002)_(150399068_?)del	LOC129994989, TCOF1	Deletion	Treacher Collins syndrome 1	GLikely pathogenic
Select item 1607370	NM_001371623.1(TCOF1):c.4444-19C>T	LOC129994989, TCOF1	Single nucleotide variant (intron variant)	Treacher Collins syndrome 1	GLikely benign
Select item 2068203	NM_001371623.1(TCOF1):c.4444-18G>A	LOC129994989, TCOF1	Single nucleotide variant (intron variant)	Treacher Collins syndrome 1	GBenign
Select item 2106199	NM_001371623.1(TCOF1):c.4448A>C (p.Lys1483Thr)	LOC129994989, TCOF1 (K1406T +5 more)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1	GUncertain significance
Select item 352237	NM_001371623.1(TCOF1):c.4458G>A (p.Glu1486=)	LOC129994989, TCOF1	Single nucleotide variant (synonymous variant)	Treacher Collins syndrome 1 +1 more	GBenign
Select item 1281712	NM_001371623.1(TCOF1):c.*1C>T	LOC129994989, TCOF1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1704715	NM_001371623.1(TCOF1):c.*22+1G>A	LOC129994989, TCOF1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1229432	NM_001371623.1(TCOF1):c.*22+26A>G	LOC129994989, TCOF1	Single nucleotide variant (intron variant)	not provided	GBenign