"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "SERPINF - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 728494	NM_000934.4(SERPINF2):c.78C>T (p.Ser26=)	SERPINF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 710823	NM_000934.4(SERPINF2):c.102+5T>G	SERPINF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2050407	NM_000934.4(SERPINF2):c.103-2A>G	SERPINF2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 731846	NM_000934.4(SERPINF2):c.111C>T (p.Ser37=)	SERPINF2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 710407	NM_000934.4(SERPINF2):c.117G>A (p.Pro39=)	SERPINF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 729421	NM_000934.4(SERPINF2):c.166-6C>T	SERPINF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2196993	NM_000934.4(SERPINF2):c.361G>A (p.Ala121Thr)	SERPINF2 (A121T)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 724613	NM_000934.4(SERPINF2):c.412G>A (p.Ala138Thr)	SERPINF2 (A138T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 734564	NM_000934.4(SERPINF2):c.512-6G>A	SERPINF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 729754	NM_000934.4(SERPINF2):c.603G>A (p.Leu201=)	SERPINF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1137989	NM_000934.4(SERPINF2):c.725G>A (p.Arg242Lys)	SERPINF2 (R178K +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2050899	NM_000934.4(SERPINF2):c.812G>A (p.Arg271His)	SERPINF2 (R271H +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 740162	NM_000934.4(SERPINF2):c.822G>A (p.Pro274=)	SERPINF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 779974	NM_000934.4(SERPINF2):c.903T>G (p.Leu301=)	SERPINF2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 760712	NM_000934.4(SERPINF2):c.1064-7T>C	SERPINF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 256833	NM_000934.4(SERPINF2):c.1107C>T (p.Ser369=)	SERPINF2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 734277	NM_000934.4(SERPINF2):c.1164G>A (p.Glu388=)	SERPINF2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 761520	NM_000934.4(SERPINF2):c.1179G>A (p.Ala393=)	SERPINF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1095026	NM_000934.4(SERPINF2):c.1351C>T (p.Pro451Ser)	SERPINF2 (P387S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2071361	NM_000934.4(SERPINF2):c.1385G>C (p.Gly462Ala)	SERPINF2 (G398A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1159848	NM_000934.4(SERPINF2):c.1396G>A (p.Gly466Arg)	SERPINF2 (G402R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3243118	NC_000017.10:g.(?_1648982)_(2583634_?)del	DPH1, HIC1 +15 more	Deletion	not provided	GPathogenic
Select item 2445502	NC_000017.10:g.(?_422368)_(2585096_?)dup	ABR, BHLHA9 +37 more	Duplication	not provided	GUncertain significance
Select item 2445495	NC_000017.10:g.(?_422368)_(1945151_?)del	ABR, BHLHA9 +26 more	Deletion	not provided	GPathogenic
Select item 2425641	NC_000017.10:g.(?_422368)_(1680740_?)del	ABR, BHLHA9 +22 more	Deletion	not provided	GUncertain significance
Select item 2425596	NC_000017.10:g.(?_1554096)_(1680740_?)del	MIR22, PRPF8 +4 more	Deletion	not provided	GUncertain significance
Select item 2424501	NC_000017.10:g.(?_1651872)_(1675389_?)del	SERPINF1, SERPINF2	Deletion	not provided	GPathogenic
Select item 2423440	NC_000017.10:g.(?_1645209)_(1731288_?)del	SERPINF1, SERPINF2 +1 more	Deletion	not provided	GPathogenic
Select item 1400855	NC_000017.10:g.(?_725577)_(1680740_?)dup	ABR, BHLHA9 +17 more	Duplication	not provided	GUncertain significance

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Items: 30