"Illumina Laboratory Services, Illumina"[submitter] AND "SMPX"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 368149	NM_014332.3(SMPX):c.*395T>G	SMPX	Single nucleotide variant (3 prime UTR variant +1 more)	Hearing loss, X-linked 4	GUncertain significance
Select item 913387	NM_014332.3(SMPX):c.*232T>G	SMPX	Single nucleotide variant (3 prime UTR variant +1 more)	Hearing loss, X-linked 4	GUncertain significance
Select item 913388	NM_014332.3(SMPX):c.*181A>G	SMPX	Single nucleotide variant (3 prime UTR variant +1 more)	Hearing loss, X-linked 4	GUncertain significance
Select item 368150	NM_014332.3(SMPX):c.*45A>T	SMPX	Single nucleotide variant (3 prime UTR variant +1 more)	Hearing loss, X-linked 4	GUncertain significance
Select item 368151	NM_014332.3(SMPX):c.264G>A (p.Gln88=)	SMPX	Single nucleotide variant (synonymous variant +1 more)	Hearing loss, X-linked 4	GUncertain significance
Select item 368152	NM_014332.3(SMPX):c.132G>A (p.Glu44=)	SMPX	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 368153	NM_014332.3(SMPX):c.-54G>A	SMPX	Single nucleotide variant (5 prime UTR variant +1 more)	Hearing loss, X-linked 4	GUncertain significance
Select item 914501	NM_014332.3(SMPX):c.-103C>T	SMPX	Single nucleotide variant (5 prime UTR variant +1 more)	Hearing loss, X-linked 4	GUncertain significance
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	CXorf49B, CXorf51A +821 more	Copy number loss	not provided	GPathogenic