C0272375[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 968665	NM_000488.4(SERPINC1):c.1265T>C (p.Ile422Thr)	SERPINC1 (I374T +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GUncertain significance
Select item 18038	NM_000488.4(SERPINC1):c.1256C>T (p.Ala419Val)	SERPINC1 (A419V +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GUncertain significance
Select item 874663	NM_000488.4(SERPINC1):c.1172G>A (p.Arg391Gln)	SERPINC1 (R343Q +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GUncertain significance
Select item 293838	NM_000488.4(SERPINC1):c.1005G>A (p.Val335=)	SERPINC1	Single nucleotide variant (synonymous variant)	Hereditary antithrombin deficiency	GBenign/Likely benign
Select item 1677439	NM_000488.4(SERPINC1):c.980T>C (p.Val327Ala)	SERPINC1 (V255A +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency +1 more	GUncertain significance
Select item 161390	NM_000488.4(SERPINC1):c.886G>C (p.Ala296Pro)	SERPINC1 (A296P +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GUncertain significance
Select item 432933	NM_000488.4(SERPINC1):c.595G>A (p.Gly199Arg)	SERPINC1 (G199R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 654211	NM_000488.4(SERPINC1):c.449A>C (p.Gln150Pro)	SERPINC1 (Q102P +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary antithrombin deficiency	GLikely pathogenic FDA Recognized database
Select item 18039	NM_000488.4(SERPINC1):c.442T>C (p.Ser148Pro)	SERPINC1 (S148P +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary antithrombin deficiency	GLikely pathogenic
Select item 1598927	NM_000488.4(SERPINC1):c.409-12dup	SERPINC1	Duplication (intron variant)	Hereditary antithrombin deficiency	GBenign
Select item 876601	NM_000488.4(SERPINC1):c.408+4C>T	SERPINC1	Single nucleotide variant (intron variant)	Hereditary antithrombin deficiency	GLikely benign FDA Recognized database
Select item 18034	NM_000488.4(SERPINC1):c.391C>T (p.Leu131Phe)	SERPINC1 (L131F +2 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GPathogenic FDA Recognized database
Select item 18011	NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu)	SERPINC1 (P73L +2 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GPathogenic FDA Recognized database
Select item 18022	NM_000488.4(SERPINC1):c.166C>T (p.Arg56Cys)	SERPINC1 (R56C +2 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency +1 more	GLikely pathogenic
Select item 1301540	NM_000488.4(SERPINC1):c.100G>A (p.Gly34Arg)	SERPINC1 (G34R +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary antithrombin deficiency	GUncertain significance FDA Recognized database
Select item 293840	NM_000488.4(SERPINC1):c.-57G>A	SERPINC1	Single nucleotide variant (5 prime UTR variant)	Hereditary antithrombin deficiency	GLikely benign FDA Recognized database