"Ambry Genetics"[submitter] AND "SERPING1"[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1771763	NM_000062.3(SERPING1):c.13C>T (p.Leu5=)	SERPING1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1745353	NM_000062.3(SERPING1):c.51+3A>G	SERPING1	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic
Select item 696821	NM_000062.3(SERPING1):c.129G>A (p.Gly43=)	SERPING1	Single nucleotide variant (synonymous variant)	SERPING1-related condition +2 more	GBenign/Likely benign
Select item 1777442	NM_000062.3(SERPING1):c.165C>T (p.Phe55=)	SERPING1	Single nucleotide variant (synonymous variant)	SERPING1-related condition +2 more	GLikely benign
Select item 3160494	NM_000062.3(SERPING1):c.197C>T (p.Pro66Leu)	SERPING1 (P66L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 879579	NM_000062.3(SERPING1):c.244A>T (p.Thr82Ser)	SERPING1 (T82S)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1 +2 more	GConflicting classifications of pathogenicity
Select item 403429	NM_000062.3(SERPING1):c.279G>A (p.Glu93=)	SERPING1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1124841	NM_000062.3(SERPING1):c.284C>T (p.Thr95Ile)	SERPING1 (T95I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1731920	NM_000062.3(SERPING1):c.348G>A (p.Gln116=)	SERPING1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2556191	NM_000062.3(SERPING1):c.356C>G (p.Thr119Ser)	SERPING1 (T119S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2416821	NM_000062.3(SERPING1):c.402G>A (p.Glu134=)	SERPING1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 699572	NM_000062.3(SERPING1):c.451C>T (p.Leu151=)	SERPING1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 305023	NM_000062.3(SERPING1):c.465C>T (p.His155=)	SERPING1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 305024	NM_000062.3(SERPING1):c.468C>T (p.Ala156=)	SERPING1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1747536	NM_000062.3(SERPING1):c.543C>T (p.Val181=)	SERPING1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3160495	NM_000062.3(SERPING1):c.577C>G (p.Leu193Val)	SERPING1 (L193V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1439026	NM_000062.3(SERPING1):c.641C>G (p.Thr214Arg)	SERPING1 (T214R)	Single nucleotide variant (missense variant)	SERPING1-related condition +2 more	GUncertain significance
Select item 68255	NM_000062.3(SERPING1):c.695T>A (p.Ile232Lys)	SERPING1 (I232K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1757276	NM_000062.3(SERPING1):c.712_715delinsT (p.Asn238_Ala239delinsSer)	SERPING1	Indel (inframe_indel)	Inborn genetic diseases	GUncertain significance
Select item 1758316	NM_000062.3(SERPING1):c.732_733dup (p.Ser245fs)	SERPING1 (S245fs)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 305026	NM_000062.3(SERPING1):c.751C>T (p.Leu251=)	SERPING1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 1595747	NM_000062.3(SERPING1):c.768C>T (p.Asp256=)	SERPING1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 305027	NM_000062.3(SERPING1):c.849C>T (p.Ser283=)	SERPING1	Single nucleotide variant (synonymous variant)	Hereditary angioedema type 1 +3 more	GBenign/Likely benign
Select item 1349172	NM_000062.3(SERPING1):c.862G>A (p.Val288Ile)	SERPING1 (V288I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1064580	NM_000062.3(SERPING1):c.890-14C>G	SERPING1	Single nucleotide variant (intron variant)	SERPING1-related condition +2 more	GLikely pathogenic
Select item 3160493	NM_000062.3(SERPING1):c.1000C>T (p.His334Tyr)	SERPING1 (H334Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1737133	NM_000062.3(SERPING1):c.1162A>T (p.Met388Leu)	SERPING1 (M388L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 877133	NM_000062.3(SERPING1):c.1164G>A (p.Met388Ile)	SERPING1 (M388I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1738469	NM_000062.3(SERPING1):c.1167C>T (p.Ser389=)	SERPING1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1743852	NM_000062.3(SERPING1):c.1187T>G (p.Leu396Arg)	SERPING1 (L396R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2194355	NM_000062.3(SERPING1):c.1199G>A (p.Arg400His)	SERPING1 (R400H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1753560	NM_000062.3(SERPING1):c.1223A>G (p.Asp408Gly)	SERPING1 (D408G)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1770819	NM_000062.3(SERPING1):c.1360_1393del (p.Val454fs)	SERPING1 (V454fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 1771279	NM_000062.3(SERPING1):c.1380C>T (p.Ser460=)	SERPING1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3230223	NM_000062.3(SERPING1):c.1381G>T (p.Ala461Ser)	SERPING1 (A461S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3946	NM_000062.3(SERPING1):c.1397G>A (p.Arg466His)	SERPING1 (R466H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1614452	NM_000062.3(SERPING1):c.1422G>A (p.Gln474=)	SERPING1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1772632	NM_000062.3(SERPING1):c.1437C>T (p.Phe479=)	SERPING1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 254786	NM_000062.3(SERPING1):c.1438G>A (p.Val480Met)	SERPING1 (V480M)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 1773829	NM_000062.3(SERPING1):c.1493C>T (p.Pro498Leu)	SERPING1 (P498L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 1772276	NM_000062.3(SERPING1):c.*10G>A	SERPING1	Single nucleotide variant (3 prime UTR variant)	Inborn genetic diseases	GUncertain significance

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Items: 41