"Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2683977	NM_000488.4(SERPINC1):c.1358T>C (p.Ile453Thr)	SERPINC1 (I381T +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GPathogenic
Select item 1527888	NM_000488.4(SERPINC1):c.1231G>C (p.Gly411Arg)	SERPINC1 (G339R +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GUncertain significance
Select item 2683973	NM_000488.4(SERPINC1):c.1219-1G>A	SERPINC1	Single nucleotide variant (splice acceptor variant)	Hereditary antithrombin deficiency	GLikely pathogenic
Select item 1527905	NM_000488.4(SERPINC1):c.1219-2A>G	SERPINC1	Single nucleotide variant (splice acceptor variant)	Hereditary antithrombin deficiency	GPathogenic
Select item 1330280	NM_000488.4(SERPINC1):c.819G>C (p.Lys273Asn)	SERPINC1 (K201N +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary antithrombin deficiency	GLikely pathogenic
Select item 2683962	NM_000488.4(SERPINC1):c.614T>C (p.Leu205Pro)	SERPINC1 (L157P +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary antithrombin deficiency	GLikely pathogenic
Select item 1330290	NM_000488.4(SERPINC1):c.436A>G (p.Lys146Glu)	SERPINC1 (K146E +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary antithrombin deficiency	GPathogenic
Select item 1330272	NM_000488.4(SERPINC1):c.133C>T (p.Arg45Trp)	SERPINC1 (R45W +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary antithrombin deficiency	GLikely pathogenic
Select item 1527893	NM_000488.4(SERPINC1):c.116T>C (p.Ile39Thr)	SERPINC1 (I39T +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary antithrombin deficiency	GLikely pathogenic