"GeneDx"[submitter] AND "LOC130003098"[gene] - ClinVar - NCBI

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Items: 10

	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 452005	NM_001177316.2(SLC34A3):c.1765G>A (p.Glu589Lys)	LOC130003098, SLC34A3 (E589K)	Single nucleotide variant (missense variant)	Autosomal recessive hypophosphatemic bone disease +1 more	GUncertain significance
Select item 1318766	NM_001177316.2(SLC34A3):c.1785dup (p.Ser596fs)	LOC130003098, SLC34A3 (S596fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1168370	NM_001177316.2(SLC34A3):c.1795T>C (p.Leu599=)	LOC130003098, SLC34A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 194276	NM_001177316.2(SLC34A3):c.*14A>C	LOC130003098, SLC34A3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 1213647	NC_000009.12:g.137236568A>C	LOC130003098, SLC34A3	Single nucleotide variant	not provided	GLikely benign