C1847593[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 281118	NM_000112.4(SLC26A2):c.229A>C (p.Asn77His)	SLC26A2 (N77H)	Single nucleotide variant (missense variant)	Atelosteogenesis type II +6 more	GConflicting classifications of pathogenicity
Select item 618367	NM_000112.4(SLC26A2):c.704C>T (p.Ala235Val)	SLC26A2 (A235V)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 4 +4 more	GUncertain significance
Select item 426387	NM_000112.4(SLC26A2):c.782C>G (p.Ser261Cys)	SLC26A2 (S261C)	Single nucleotide variant (missense variant)	Achondrogenesis, type IB +6 more	GUncertain significance
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 1209709	NM_000112.4(SLC26A2):c.1058A>G (p.His353Arg)	SLC26A2 (H353R)	Single nucleotide variant (missense variant)	Achondrogenesis, type IB +3 more	GUncertain significance
Select item 1209708	NM_000112.4(SLC26A2):c.1241C>T (p.Ala414Val)	SLC26A2 (A414V)	Single nucleotide variant (missense variant)	Achondrogenesis, type IB +3 more	GUncertain significance
Select item 1209664	NM_000112.4(SLC26A2):c.1668G>T (p.Leu556Phe)	SLC26A2 (L556F)	Single nucleotide variant (missense variant)	Achondrogenesis, type IB +3 more	GUncertain significance
Select item 1217325	NM_000112.4(SLC26A2):c.1849G>A (p.Ala617Thr)	SLC26A2 (A617T)	Single nucleotide variant (missense variant)	Achondrogenesis, type IB +3 more	GUncertain significance