LOC129994985[gene] - ClinVar - NCBI

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Items: 18

	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 1258191	NM_001135243.1(TCOF1):c.-89T>G	LOC129994985, TCOF1	Single nucleotide variant	not provided	GBenign
Select item 209019	NM_001135244.1(TCOF1):c.-59G>A	LOC129994985, TCOF1	Single nucleotide variant	Treacher Collins syndrome 1	GLikely benign
Select item 352192	NM_001371623.1(TCOF1):c.-19C>T	LOC129994985, TCOF1	Single nucleotide variant (5 prime UTR variant)	Treacher Collins Syndrome, Dominant +1 more	GUncertain significance
Select item 2734804	NM_001371623.1(TCOF1):c.1A>T (p.Met1Leu)	LOC129994985, TCOF1 (M1L)	Single nucleotide variant (missense variant +1 more)	Treacher Collins syndrome 1	GPathogenic
Select item 3337661	NM_001371623.1(TCOF1):c.3G>A (p.Met1Ile)	LOC129994985, TCOF1 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 938964	NM_001371623.1(TCOF1):c.25G>T (p.Glu9Ter)	LOC129994985, TCOF1 (E9*)	Single nucleotide variant (nonsense)	Treacher Collins syndrome 1	GPathogenic
Select item 2683611	NM_001371623.1(TCOF1):c.37del (p.Pro12_Leu13insTer)	LOC129994985, TCOF1	Deletion (nonsense)	not provided	GLikely pathogenic
Select item 2444278	NM_001371623.1(TCOF1):c.41T>G (p.Ile14Ser)	LOC129994985, TCOF1 (I14S)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1	GUncertain significance
Select item 816644	NM_001371623.1(TCOF1):c.42C>G (p.Ile14Met)	LOC129994985, TCOF1 (I14M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 381618	NM_001371623.1(TCOF1):c.50A>G (p.His17Arg)	LOC129994985, TCOF1 (H17R)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 2498031	NM_001371623.1(TCOF1):c.53T>C (p.Leu18Pro)	LOC129994985, TCOF1 (L18P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311597	NM_001371623.1(TCOF1):c.76G>A (p.Ala26Thr)	LOC129994985, TCOF1 (A26T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2655924	NM_001371623.1(TCOF1):c.78G>A (p.Ala26=)	LOC129994985, TCOF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign