"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1319561	NM_000112.4(SLC26A2):c.395T>C (p.Leu132Pro)	SLC26A2 (L132P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 352021	NM_000112.4(SLC26A2):c.655A>G (p.Ile219Val)	SLC26A2 (I219V)	Single nucleotide variant (missense variant)	not specified +7 more	GBenign/Likely benign
Select item 4089	NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp)	SLC26A2 (R279W)	Single nucleotide variant (missense variant)	not specified +10 more	GPathogenic/Likely pathogenic
Select item 196211	NM_000112.4(SLC26A2):c.987T>C (p.Leu329=)	SLC26A2	Single nucleotide variant (synonymous variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 290033	NM_000112.4(SLC26A2):c.1081G>A (p.Ala361Thr)	SLC26A2 (A361T)	Single nucleotide variant (missense variant)	Diastrophic dysplasia +6 more	GConflicting classifications of pathogenicity
Select item 1702480	NM_000112.4(SLC26A2):c.1085G>T (p.Gly362Val)	SLC26A2 (G362V)	Single nucleotide variant (missense variant)	Achondrogenesis, type IB +4 more	GUncertain significance
Select item 1702481	NM_000112.4(SLC26A2):c.1442G>C (p.Ser481Thr)	SLC26A2 (S481T)	Single nucleotide variant (missense variant)	Connective tissue disorder	GUncertain significance
Select item 1702482	NM_000112.4(SLC26A2):c.1443T>C (p.Ser481=)	SLC26A2	Single nucleotide variant (synonymous variant)	Connective tissue disorder	GUncertain significance
Select item 65559	NM_000112.4(SLC26A2):c.1474C>T (p.Arg492Trp)	SLC26A2 (R492W)	Single nucleotide variant (missense variant)	not provided +7 more	GBenign/Likely benign
Select item 1702483	NM_000112.4(SLC26A2):c.1487_1488insGGCG (p.Lys497fs)	SLC26A2 (K497fs)	Insertion (frameshift variant)	Achondrogenesis, type IB +4 more	GPathogenic/Likely pathogenic
Select item 1702484	NM_000112.4(SLC26A2):c.1487G>A (p.Arg496His)	SLC26A2 (R496H)	Single nucleotide variant (missense variant)	Achondrogenesis, type IB +4 more	GUncertain significance
Select item 788309	NM_000112.4(SLC26A2):c.1647A>G (p.Pro549=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +5 more	GBenign/Likely benign
Select item 196209	NM_000112.4(SLC26A2):c.1721T>C (p.Ile574Thr)	SLC26A2 (I574T)	Single nucleotide variant (missense variant)	not specified +7 more	GBenign
Select item 4087	NM_000112.4(SLC26A2):c.1724del (p.Lys575fs)	SLC26A2 (K575fs)	Deletion (frameshift variant)	Connective tissue disorder +5 more	GPathogenic
Select item 4098	NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser)	SLC26A2 (C653S)	Single nucleotide variant (missense variant)	Sulfate transporter-related osteochondrodysplasia +8 more	GPathogenic/Likely pathogenic
Select item 65560	NM_000112.4(SLC26A2):c.2065A>T (p.Thr689Ser)	SLC26A2 (T689S)	Single nucleotide variant (missense variant)	not provided +7 more	GBenign/Likely benign
Select item 255133	NM_000112.4(SLC26A2):c.2220A>G (p.Ter740=)	SLC26A2	Single nucleotide variant (synonymous variant)	Connective tissue disorder +7 more	GBenign/Likely benign