"GeneDx"[submitter] AND "LOC130000316"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	LOC130000309, LOC130000310 +900 more	Copy number gain	See cases	GPathogenic
Select item 59783	GRCh38/hg38 8p11.22-q11.21(chr8:39830633-49209461)x3	ADAM2, ANK1 +184 more	Copy number gain	See cases	GPathogenic
Select item 59784	GRCh38/hg38 8p11.21-11.1(chr8:39981424-43532444)x3	ANK1, AP3M2 +121 more	Copy number gain	See cases	GPathogenic
Select item 59786	GRCh38/hg38 8p11.21-q11.21(chr8:41845699-47893948)x3	DKK4, FNTA +86 more	Copy number gain	See cases	GPathogenic
Select item 59807	GRCh38/hg38 8p11.21-11.1(chr8:42535063-43541633)x3	CHRNA6, CHRNB3 +34 more	Copy number gain	See cases	GBenign
Select item 152192	GRCh38/hg38 8p11.21-11.1(chr8:43103284-43533090)x3	HGSNAT, LOC121740716 +8 more	Copy number gain	See cases	GBenign/Likely benign
Select item 674251	NM_152419.2(HGSNAT):c.-174G>A	HGSNAT, LOC130000316	Single nucleotide variant	not provided	GBenign
Select item 1205172	NC_000008.11:g.43140436G>A	HGSNAT, LOC130000316	Single nucleotide variant	not provided	GLikely benign
Select item 2504228	NM_152419.3(HGSNAT):c.20C>T (p.Ala7Val)	HGSNAT, LOC130000316 (A7V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1201110	NM_152419.3(HGSNAT):c.118+32G>C	HGSNAT, LOC130000316	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1257333	NM_152419.3(HGSNAT):c.118+54C>T	LOC130000316, HGSNAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1706718	NM_152419.3(HGSNAT):c.118+69C>T	HGSNAT, LOC130000316	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1706252	NM_152419.3(HGSNAT):c.118+221G>T	HGSNAT, LOC130000316	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1240829	NM_152419.3(HGSNAT):c.118+333C>T	HGSNAT, LOC130000316	Single nucleotide variant (intron variant)	not provided	GBenign