C1853271[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2436020	NM_001177316.2(SLC34A3):c.176-9T>G	SLC34A3	Single nucleotide variant (intron variant)	Autosomal recessive hypophosphatemic bone disease	GUncertain significance
Select item 2436017	NM_001177316.2(SLC34A3):c.214_216del (p.Ser72del)	SLC34A3 (S72del)	Deletion (inframe_deletion)	Autosomal recessive hypophosphatemic bone disease	GUncertain significance
Select item 198610	NM_001177316.2(SLC34A3):c.575C>T (p.Ser192Leu)	SLC34A3 (S192L)	Single nucleotide variant (missense variant)	SLC34A3-related condition +2 more	GPathogenic/Likely pathogenic
Select item 1355159	NM_001177316.2(SLC34A3):c.682A>G (p.Ser228Gly)	SLC34A3 (S228G)	Single nucleotide variant (missense variant)	Autosomal recessive hypophosphatemic bone disease +1 more	GUncertain significance
Select item 969647	NM_001177316.2(SLC34A3):c.799A>C (p.Thr267Pro)	SLC34A3 (T267P)	Single nucleotide variant (missense variant)	Autosomal recessive hypophosphatemic bone disease +2 more	GUncertain significance
Select item 1429	NM_001177316.2(SLC34A3):c.846G>A (p.Pro282=)	SLC34A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2436019	NM_001177316.2(SLC34A3):c.847-26T>C	SLC34A3	Single nucleotide variant (intron variant)	Autosomal recessive hypophosphatemic bone disease	GUncertain significance
Select item 287109	NM_001177316.2(SLC34A3):c.1072G>A (p.Val358Met)	SLC34A3 (V358M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1062467	NM_001177316.2(SLC34A3):c.1187C>T (p.Thr396Met)	SLC34A3 (T396M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2436018	NM_001177316.2(SLC34A3):c.1267G>A (p.Gly423Ser)	SLC34A3 (G423S)	Single nucleotide variant (missense variant)	Autosomal recessive hypophosphatemic bone disease +1 more	GUncertain significance
Select item 444095	NM_001177316.2(SLC34A3):c.1561dup (p.Leu521fs)	SLC34A3 (L521fs)	Duplication (frameshift variant)	Autosomal recessive hypophosphatemic bone disease +2 more	GPathogenic/Likely pathogenic