C4693864[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1485727	NM_004795.4(KL):c.4C>T (p.Pro2Ser)	KL (P2S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 881808	NM_004795.4(KL):c.87C>T (p.Arg29=)	KL	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 881809	NM_004795.4(KL):c.91C>T (p.Leu31=)	KL	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1345701	NM_004795.4(KL):c.254A>G (p.Lys85Arg)	KL (K85R)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GUncertain significance
Select item 1439474	NM_004795.4(KL):c.257G>A (p.Gly86Asp)	KL (G86D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1675034	NM_004795.4(KL):c.292C>T (p.Leu98=)	KL	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1367439	NM_004795.4(KL):c.398T>A (p.Phe133Tyr)	KL (F133Y)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GUncertain significance
Select item 1537092	NM_004795.4(KL):c.486G>A (p.Ala162=)	KL	Single nucleotide variant (synonymous variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GBenign/Likely benign
Select item 64551	NM_004795.4(KL):c.497A>G (p.Asn166Ser)	KL (N166S)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GUncertain significance
Select item 883757	NM_004795.4(KL):c.535C>T (p.Arg179Trp)	KL (R179W)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GUncertain significance
Select item 1556653	NM_004795.4(KL):c.537G>C (p.Arg179=)	KL	Single nucleotide variant (synonymous variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GBenign/Likely benign
Select item 311685	NM_004795.4(KL):c.560C>T (p.Pro187Leu)	KL (P187L)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GUncertain significance
Select item 1503036	NM_004795.4(KL):c.721dup (p.Tyr241fs)	KL (Y241fs)	Duplication (frameshift variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GUncertain significance
Select item 1596532	NM_004795.4(KL):c.738C>T (p.His246=)	KL	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1417990	NM_004795.4(KL):c.944A>G (p.Glu315Gly)	KL (E315G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1566687	NM_004795.4(KL):c.1005T>C (p.Gly335=)	KL	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 311693	NM_004795.4(KL):c.1331-3C>A	KL	Single nucleotide variant (intron variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3	GUncertain significance
Select item 1599274	NM_004795.4(KL):c.1371A>C (p.Ala457=)	KL	Single nucleotide variant (synonymous variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GBenign/Likely benign
Select item 1361567	NM_004795.4(KL):c.1462TTG[1] (p.Leu489del)	KL (L489del)	Microsatellite (inframe_deletion)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GUncertain significance
Select item 1409686	NM_004795.4(KL):c.1764G>T (p.Met588Ile)	KL (M588I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 311699	NM_004795.4(KL):c.1780C>T (p.Arg594Cys)	KL (R594C)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GUncertain significance
Select item 1633159	NM_004795.4(KL):c.1788C>A (p.Ser596=)	KL	Single nucleotide variant (synonymous variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GLikely benign
Select item 311700	NM_004795.4(KL):c.1811C>A (p.Pro604His)	KL (P604H)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3	GUncertain significance
Select item 883810	NM_004795.4(KL):c.1858C>T (p.Arg620Cys)	KL (R620C)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +2 more	GUncertain significance
Select item 1403649	NM_004795.4(KL):c.1882C>T (p.Arg628Cys)	KL (R628C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 807004	NM_004795.4(KL):c.2057C>T (p.Thr686Met)	KL (T686M)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1426214	NM_004795.4(KL):c.2069C>T (p.Pro690Leu)	KL (P690L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1344758	NM_004795.4(KL):c.2251A>G (p.Arg751Gly)	KL (R751G)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GUncertain significance
Select item 881481	NM_004795.4(KL):c.2296G>C (p.Gly766Arg)	KL (G766R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1355712	NM_004795.4(KL):c.2502C>T (p.Thr834=)	KL	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1493920	NM_004795.4(KL):c.2513G>C (p.Trp838Ser)	KL (W838S)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +2 more	GUncertain significance
Select item 881484	NM_004795.4(KL):c.2532G>A (p.Gln844=)	KL	Single nucleotide variant (synonymous variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GBenign/Likely benign
Select item 311703	NM_004795.4(KL):c.2557C>T (p.Arg853Cys)	KL (R853C)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1618702	NM_004795.4(KL):c.2682C>T (p.Tyr894=)	KL	Single nucleotide variant (synonymous variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GLikely benign
Select item 64547	NM_004795.4(KL):c.2684T>C (p.Ile895Thr)	KL (I895T)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3	GUncertain significance
Select item 881928	NM_004795.4(KL):c.2688C>T (p.Asn896=)	KL	Single nucleotide variant (synonymous variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GBenign
Select item 1649898	NM_004795.4(KL):c.2811C>T (p.Pro937=)	KL	Single nucleotide variant (synonymous variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GLikely benign
Select item 64548	NM_004795.4(KL):c.2862G>A (p.Pro954=)	KL	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance

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Items: 38