ClinVar for Gene (Select 126859819) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3188025	NM_007124.3(UTRN):c.3148G>A (p.Ala1050Thr)	LOC126859819, UTRN (A1050T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2363142	NM_007124.3(UTRN):c.3152G>A (p.Gly1051Asp)	LOC126859819, UTRN (G1051D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2328233	NM_007124.3(UTRN):c.3067G>A (p.Ala1023Thr)	LOC126859819, UTRN (A1023T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1290712	NM_007124.3(UTRN):c.3067-71C>T	LOC126859819, UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 764083	NM_007124.3(UTRN):c.3180+9T>G	LOC126859819, UTRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 723484	NM_007124.3(UTRN):c.3139G>A (p.Gly1047Arg)	LOC126859819, UTRN (G1047R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997469, LOC129997470 +1002 more	Copy number gain	See cases	GPathogenic
Select item 151062	GRCh38/hg38 6q24.2(chr6:144418941-144485393)x3	LOC126859819, LOC129997378 +2 more	Copy number gain	See cases	GUncertain significance
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC132089359, LOC132089360 +614 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	ACAT2, ADAT2 +865 more	Copy number gain	See cases	GPathogenic