C1840402[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 855632	NM_024529.5(CDC73):c.8A>G (p.Asp3Gly)	CDC73 (D3G)	Single nucleotide variant (missense variant)	Parathyroid carcinoma +4 more	GUncertain significance
Select item 3276	NM_024529.5(CDC73):c.131+1G>A	CDC73	Single nucleotide variant (splice donor variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 1635774	NM_024529.5(CDC73):c.132-17T>G	CDC73	Single nucleotide variant (intron variant)	Parathyroid carcinoma +2 more	GLikely benign
Select item 653129	NM_024529.5(CDC73):c.138A>T (p.Gly46=)	CDC73	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 462756	NM_024529.5(CDC73):c.280C>T (p.Leu94=)	CDC73	Single nucleotide variant (synonymous variant)	Parathyroid carcinoma +3 more	GLikely benign
Select item 261740	NM_024529.5(CDC73):c.308-16C>A	CDC73	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 1044459	NM_024529.5(CDC73):c.314C>T (p.Ser105Leu)	CDC73 (S105L)	Single nucleotide variant (missense variant)	Parathyroid carcinoma +3 more	GUncertain significance
Select item 462757	NM_024529.5(CDC73):c.315G>A (p.Ser105=)	CDC73	Single nucleotide variant (synonymous variant)	Parathyroid carcinoma +3 more	GLikely benign
Select item 648869	NM_024529.5(CDC73):c.320G>A (p.Ser107Asn)	CDC73 (S107N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 412634	NM_024529.5(CDC73):c.333C>T (p.Ser111=)	CDC73	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GLikely benign
Select item 848147	NM_024529.5(CDC73):c.364A>G (p.Thr122Ala)	CDC73 (T122A)	Single nucleotide variant (missense variant)	Parathyroid carcinoma +3 more	GUncertain significance
Select item 1607766	NM_024529.5(CDC73):c.370+17A>G	CDC73	Single nucleotide variant (intron variant)	Hyperparathyroidism 1 +2 more	GLikely benign
Select item 576255	NM_024529.5(CDC73):c.380C>T (p.Ala127Val)	CDC73 (A127V)	Single nucleotide variant (missense variant)	Parathyroid carcinoma +3 more	GUncertain significance
Select item 844706	NM_024529.5(CDC73):c.450A>G (p.Lys150=)	CDC73	Single nucleotide variant (synonymous variant)	Parathyroid carcinoma +3 more	GConflicting classifications of pathogenicity
Select item 1150036	NM_024529.5(CDC73):c.519G>A (p.Leu173=)	CDC73	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 531645	NM_024529.5(CDC73):c.648T>A (p.Ala216=)	CDC73	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 658835	NM_024529.5(CDC73):c.664C>T (p.Arg222Ter)	CDC73 (R222*)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic
Select item 241496	NM_024529.5(CDC73):c.687_688dup (p.Val230fs)	CDC73 (V230fs)	Microsatellite (frameshift variant)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic
Select item 403879	NM_024529.5(CDC73):c.680G>A (p.Arg227Lys)	CDC73 (R227K)	Single nucleotide variant (missense variant)	Parathyroid carcinoma +3 more	GConflicting classifications of pathogenicity
Select item 858341	NM_024529.5(CDC73):c.709A>G (p.Ile237Val)	CDC73 (I237V)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 860535	NM_024529.5(CDC73):c.728A>T (p.Lys243Met)	CDC73 (K243M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 1658427	NM_024529.5(CDC73):c.730-14C>G	CDC73	Single nucleotide variant (intron variant)	Hyperparathyroidism 1 +2 more	GLikely benign
Select item 947349	NM_024529.5(CDC73):c.731A>G (p.Asn244Ser)	CDC73 (N244S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 1026535	NM_024529.5(CDC73):c.811C>G (p.Pro271Ala)	CDC73 (P271A)	Single nucleotide variant (missense variant)	Parathyroid carcinoma +2 more	GUncertain significance
Select item 1025146	NM_024529.5(CDC73):c.823C>T (p.Pro275Ser)	CDC73 (P275S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 1659259	NM_024529.5(CDC73):c.829-5dup	CDC73	Duplication (intron variant)	Hyperparathyroidism 1 +3 more	GBenign/Likely benign
Select item 241498	NM_024529.5(CDC73):c.840G>A (p.Leu280=)	CDC73	Single nucleotide variant (synonymous variant)	Hyperparathyroidism 2 with jaw tumors +3 more	GLikely benign
Select item 462770	NM_024529.5(CDC73):c.844A>G (p.Thr282Ala)	CDC73 (T282A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 412627	NM_024529.5(CDC73):c.873C>T (p.Asn291=)	CDC73	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 1626823	NM_024529.5(CDC73):c.908-6del	CDC73	Deletion (intron variant)	Parathyroid carcinoma +2 more	GLikely benign
Select item 403896	NM_024529.5(CDC73):c.1018G>A (p.Val340Ile)	CDC73 (V340I)	Single nucleotide variant (missense variant)	Hyperparathyroidism 1 +3 more	GUncertain significance
Select item 649933	NM_024529.5(CDC73):c.1066+5G>A	CDC73	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 21681	NM_024529.5(CDC73):c.1066+8T>C	CDC73	Single nucleotide variant (intron variant)	Hyperparathyroidism 2 with jaw tumors +2 more	GLikely benign
Select item 403895	NM_024529.5(CDC73):c.1081A>G (p.Ile361Val)	CDC73 (I361V)	Single nucleotide variant (missense variant)	Parathyroid carcinoma +4 more	GConflicting classifications of pathogenicity
Select item 462742	NM_024529.5(CDC73):c.1236G>A (p.Met412Ile)	CDC73 (M412I)	Single nucleotide variant (missense variant)	Hyperparathyroidism 2 with jaw tumors +4 more	GConflicting classifications of pathogenicity
Select item 651407	NM_024529.5(CDC73):c.1248C>T (p.Gly416=)	CDC73	Single nucleotide variant (synonymous variant)	Parathyroid carcinoma +4 more	GConflicting classifications of pathogenicity
Select item 41848	NM_024529.5(CDC73):c.1304T>C (p.Met435Thr)	CDC73 (M435T)	Single nucleotide variant (missense variant)	Ovarian cancer +5 more	GConflicting classifications of pathogenicity
Select item 241494	NM_024529.5(CDC73):c.1333G>A (p.Val445Ile)	CDC73 (V445I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1035493	NM_024529.5(CDC73):c.1421A>G (p.Lys474Arg)	CDC73 (K474R)	Single nucleotide variant (missense variant)	Parathyroid carcinoma +3 more	GUncertain significance
Select item 403881	NM_024529.5(CDC73):c.1537C>T (p.Arg513Trp)	CDC73 (R513W)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 462752	NM_024529.5(CDC73):c.1551A>G (p.Thr517=)	CDC73	Single nucleotide variant (synonymous variant)	Parathyroid carcinoma +3 more	GLikely benign
Select item 1587133	NM_024529.5(CDC73):c.1559+20A>G	CDC73	Single nucleotide variant (intron variant)	Parathyroid carcinoma +2 more	GLikely benign
Select item 640791	NM_024529.5(CDC73):c.1575T>G (p.His525Gln)	CDC73 (H525Q)	Single nucleotide variant (missense variant)	Hyperparathyroidism 2 with jaw tumors +3 more	GUncertain significance

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Items: 43