C1876187 - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 331770	NM_004482.4(GALNT3):c.*934dup	GALNT3	Duplication (3 prime UTR variant)	Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome	GUncertain significance
Select item 331775	NM_004482.4(GALNT3):c.*308TA[7]	GALNT3	Microsatellite (3 prime UTR variant)	Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome	GUncertain significance
Select item 331796	NM_004482.3(GALNT3):c.-370_-366delGCCTC	GALNT3	Deletion (genic upstream transcript variant)	Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome	GUncertain significance
Select item 308780	NM_020638.3(FGF23):c.*1380TTC[1]	FGF23	Microsatellite (3 prime UTR variant)	Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome +1 more	GUncertain significance
Select item 308790	NM_020638.3(FGF23):c.372_377del	FGF23	Deletion (3 prime UTR variant)	Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome +1 more	GUncertain significance
Select item 308791	NM_020638.3(FGF23):c.368_373del	FGF23	Deletion (3 prime UTR variant)	Hypophosphatemic Rickets, Dominant +1 more	GUncertain significance
Select item 308793	NM_020638.3(FGF23):c.367_372del	FGF23	Deletion (3 prime UTR variant)	Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome +1 more	GUncertain significance
Select item 308792	NM_020638.3(FGF23):c.369_372del	FGF23	Deletion (3 prime UTR variant)	Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome +1 more	GUncertain significance
Select item 308794	NM_020638.3(FGF23):c.340_344del	FGF23	Deletion (3 prime UTR variant)	Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome +1 more	GUncertain significance
Select item 308795	NM_020638.3(FGF23):c.337_340del	FGF23	Deletion (3 prime UTR variant)	Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome +1 more	GUncertain significance
Select item 216929	NM_020638.3(FGF23):c.260G>A (p.Gly87Asp)	FGF23 (G87D)	Single nucleotide variant (missense variant)	Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome	GLikely pathogenic
Select item 5027	NM_020638.3(FGF23):c.211A>G (p.Ser71Gly)	FGF23 (S71G)	Single nucleotide variant (missense variant)	Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome +2 more	GConflicting classifications of pathogenicity
Select item 311714	NM_004795.4(KL):c.202_205del	KL	Deletion (3 prime UTR variant)	Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome	GUncertain significance