LOC129932579[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 147449	GRCh38/hg38 1q41-42.13(chr1:223347693-228556332)x1	ACBD3, ACBD3-AS1 +287 more	Copy number loss	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic
Select item 146036	GRCh38/hg38 1q41-42.12(chr1:223749425-224604271)x1	CAPN2, CNIH3 +40 more	Copy number loss	See cases	GUncertain significance
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC440742, LYPD8 +955 more	Copy number gain	See cases	GPathogenic
Select item 57169	GRCh38/hg38 1q41-42.12(chr1:223882252-224902629)x1	CNIH3, CNIH3-AS1 +43 more	Copy number loss	See cases	GUncertain significance
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	ABCB10, ACBD3 +953 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932658, LOC129932659 +950 more	Copy number gain	See cases	GPathogenic
Select item 3040966	NM_015176.4(FBXO28):c.-1G>C	FBXO28, LOC129932579	Single nucleotide variant (5 prime UTR variant +1 more)	FBXO28-related disorder	GLikely benign
Select item 2584666	NM_015176.4(FBXO28):c.13_14delinsAA (p.Ala5Lys)	FBXO28, LOC129932579 (A5K)	Indel (missense variant +1 more)	Developmental and epileptic encephalopathy 100	GUncertain significance
Select item 2639923	NM_015176.4(FBXO28):c.14C>G (p.Ala5Gly)	FBXO28, LOC129932579 (A5G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2633683	NM_015176.4(FBXO28):c.20A>T (p.Glu7Val)	FBXO28, LOC129932579 (E7V)	Single nucleotide variant (missense variant +1 more)	FBXO28-related disorder	GUncertain significance
Select item 2639924	NM_015176.4(FBXO28):c.22C>A (p.Arg8=)	FBXO28, LOC129932579	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3093646	NM_015176.4(FBXO28):c.44G>C (p.Gly15Ala)	FBXO28, LOC129932579 (G15A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 22