"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 593626	NM_001177316.2(SLC34A3):c.195_215del (p.Arg65_Gly71del)	SLC34A3	Deletion (inframe_deletion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1107479	NM_001177316.2(SLC34A3):c.411G>A (p.Thr137=)	SLC34A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 288891	NM_001177316.2(SLC34A3):c.539G>C (p.Gly180Ala)	SLC34A3 (G180A)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1438804	NM_001177316.2(SLC34A3):c.544C>T (p.Arg182Trp)	SLC34A3 (R182W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 504908	NM_001177316.2(SLC34A3):c.625C>T (p.Leu209=)	SLC34A3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1434	NM_001177316.2(SLC34A3):c.756G>A (p.Gln252=)	SLC34A3	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 284859	NM_001177316.2(SLC34A3):c.790G>A (p.Gly264Ser)	SLC34A3 (G264S)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1169030	NM_001177316.2(SLC34A3):c.942G>C (p.Ala314=)	SLC34A3	Single nucleotide variant (synonymous variant)	Autosomal recessive hypophosphatemic bone disease +1 more	GBenign/Likely benign
Select item 281431	NM_001177316.2(SLC34A3):c.1140C>T (p.Leu380=)	SLC34A3	Single nucleotide variant (synonymous variant)	Autosomal recessive hypophosphatemic bone disease +2 more	GBenign/Likely benign
Select item 860969	NM_001177316.2(SLC34A3):c.1453C>T (p.Arg485Cys)	SLC34A3 (R485C)	Single nucleotide variant (missense variant)	Autosomal recessive hypophosphatemic bone disease +2 more	GConflicting classifications of pathogenicity
Select item 194279	NM_001177316.2(SLC34A3):c.1454G>A (p.Arg485His)	SLC34A3 (R485H)	Single nucleotide variant (missense variant)	SLC34A3-related condition +3 more	GBenign/Likely benign
Select item 194278	NM_001177316.2(SLC34A3):c.1585A>T (p.Ile529Phe)	SLC34A3 (I529F)	Single nucleotide variant (missense variant)	SLC34A3-related condition +3 more	GBenign/Likely benign
Select item 1168370	NM_001177316.2(SLC34A3):c.1795T>C (p.Leu599=)	LOC130003098, SLC34A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign