LOC126805643[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 57443	GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1	ACTL8, AGMAT +303 more	Copy number loss	See cases	GPathogenic
Select item 149010	GRCh38/hg38 1p36.21-36.13(chr1:15681812-19662339)x1	LOC126805640, LOC126805641 +206 more	Copy number loss	See cases	GPathogenic
Select item 59918	GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1	EMC1-AS1, FAM43B +221 more	Copy number loss	See cases	GPathogenic
Select item 59922	GRCh38/hg38 1p36.13(chr1:19093306-20063342)x1	AKR7A2, AKR7A3 +57 more	Copy number loss	See cases	GPathogenic
Select item 734105	NM_020765.3(UBR4):c.6072+5A>G	LOC126805643, UBR4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3185846	NM_020765.3(UBR4):c.6040G>A (p.Glu2014Lys)	LOC126805643, UBR4 (E2014K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 737718	NM_020765.3(UBR4):c.6039C>T (p.Thr2013=)	LOC126805643, UBR4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2293757	NM_020765.3(UBR4):c.5993C>T (p.Thr1998Met)	LOC126805643, UBR4 (T1998M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246563	NM_020765.3(UBR4):c.5954C>G (p.Ser1985Cys)	LOC126805643, UBR4 (S1985C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380542	NM_020765.3(UBR4):c.5903C>T (p.Ala1968Val)	LOC126805643, UBR4 (A1968V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039925	NM_020765.3(UBR4):c.5883C>A (p.Pro1961=)	LOC126805643, UBR4	Single nucleotide variant (synonymous variant)	UBR4-related disorder	GLikely benign
Select item 2314252	NM_020765.3(UBR4):c.5767G>C (p.Val1923Leu)	LOC126805643, UBR4 (V1923L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210084	NM_020765.3(UBR4):c.5767G>A (p.Val1923Ile)	LOC126805643, UBR4 (V1923I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 798895	NM_020765.3(UBR4):c.5766C>T (p.Thr1922=)	LOC126805643, UBR4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign