"GeneDx"[submitter] AND "LOC126860797"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59943	GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3	ABCA2, AGPAT2 +392 more	Copy number gain	See cases	GPathogenic
Select item 59136	GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1	UAP1L1, UBAC1 +371 more	Copy number loss	See cases	GPathogenic
Select item 59137	GRCh38/hg38 9q34.3(chr9:135452016-137613738)x1	ABCA2, AGPAT2 +311 more	Copy number loss	See cases	GPathogenic
Select item 59151	GRCh38/hg38 9q34.3(chr9:137215877-137830604)x1	ARRDC1, ARRDC1-AS1 +92 more	Copy number loss	See cases	GPathogenic
Select item 59141	GRCh38/hg38 9q34.3(chr9:137215877-138138735)x1	LOC130003144, LOC130003145 +101 more	Copy number loss	See cases	GPathogenic
Select item 59091	GRCh38/hg38 9q34.3(chr9:137345965-137640771)x1	ARRDC1, ARRDC1-AS1 +41 more	Copy number loss	See cases	GUncertain significance
Select item 781936	NM_001130969.3(NSMF):c.1496-9T>C	LOC126860797, NSMF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673559	NM_001130969.3(NSMF):c.1495+41G>A	LOC126860797, NSMF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 194414	NM_001130969.3(NSMF):c.1467C>T (p.Phe489=)	NSMF, LOC126860797	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 673329	NM_001130969.3(NSMF):c.1420-78G>A	LOC126860797, NSMF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271348	NM_001130969.3(NSMF):c.1419+47C>T	LOC126860797, NSMF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 426818	NM_001130969.3(NSMF):c.1414G>A (p.Glu472Lys)	LOC126860797, NSMF (E470K +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 450266	NM_001130969.3(NSMF):c.1404C>A (p.Asn468Lys)	LOC126860797, NSMF (N466K +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1193385	NM_001130969.3(NSMF):c.1401G>A (p.Gly467=)	LOC126860797, NSMF	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1215926	NM_001130969.3(NSMF):c.1347C>T (p.Ser449=)	LOC126860797, NSMF	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1321474	NM_001130969.3(NSMF):c.1317-64C>T	LOC126860797, NSMF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 516527	NM_001130969.3(NSMF):c.1237-9T>C	LOC126860797, NSMF	Single nucleotide variant (intron variant)	not provided +1 more	GBenign