Related gene-specific medical variations for Gene (Select 7402) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064920	NM_007124.3(UTRN):c.4134+1G>A	UTRN	Single nucleotide variant (splice donor variant)	Duchenne muscular dystrophy	GLikely pathogenic
Select item 2391068	NM_007124.3(UTRN):c.8962C>A (p.Gln2988Lys)	UTRN, LOC123864093 (Q2988K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387684	NM_007124.3(UTRN):c.8945C>T (p.Pro2982Leu)	LOC123864093, UTRN (P2982L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363142	NM_007124.3(UTRN):c.3152G>A (p.Gly1051Asp)	LOC126859819, UTRN (G1051D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2328233	NM_007124.3(UTRN):c.3067G>A (p.Ala1023Thr)	LOC126859819, UTRN (A1023T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1808583	GRCh37/hg19 6q24.2(chr6:144758945-144907222)x1	UTRN	Copy number loss	not provided	GUncertain significance
Select item 1808177	GRCh37/hg19 6q24.2-24.3(chr6:144703479-145689316)x3	UTRN	Copy number gain	not provided	GUncertain significance
Select item 1527301	GRCh37/hg19 6q24.2(chr6:144739063-145350329)	UTRN	Copy number gain	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 1257937	NM_007124.3(UTRN):c.8921-41T>C	LOC123864093, UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250343	NM_007124.3(UTRN):c.8921-35A>G	LOC123864093, UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 773732	NM_007124.3(UTRN):c.8988T>C (p.His2996=)	UTRN, LOC123864093	Single nucleotide variant (synonymous 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 746347	NM_007124.3(UTRN):c.8944C>T (p.Pro2982Ser)	LOC123864093, UTRN (P2982S +1 more)	Single nucleotide variant (missense 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 715252	NM_007124.3(UTRN):c.8960A>T (p.Asp2987Val)	LOC123864093, UTRN (D542V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 688015	GRCh37/hg19 6q24.2(chr6:145116452-145377537)x3	UTRN	Copy number gain	not provided	GUncertain significance