"PreventionGenetics, part of Exact Sciences"[submitter] AND "SERPINF1" - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3030969	NM_002615.7(SERPINF1):c.77C>G (p.Pro26Arg)	SERPINF1 (P26R)	Single nucleotide variant (missense variant +1 more)	SERPINF1-related disorder	GUncertain significance
Select item 289666	NM_002615.7(SERPINF1):c.202G>C (p.Val68Leu)	LOC130059891, SERPINF1 (V68L)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 218613	NM_002615.7(SERPINF1):c.242C>G (p.Ser81Cys)	LOC130059892, SERPINF1 (S81C)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 513156	NM_002615.7(SERPINF1):c.279G>T (p.Ser93=)	LOC130059892, SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 1702053	NM_002615.7(SERPINF1):c.439+7C>T	SERPINF1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3030455	NM_002615.7(SERPINF1):c.483A>T (p.Ser161=)	SERPINF1	Single nucleotide variant (synonymous variant +1 more)	SERPINF1-related disorder	GLikely benign
Select item 1702054	NM_002615.7(SERPINF1):c.609C>T (p.Ile203=)	SERPINF1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3046685	NM_002615.7(SERPINF1):c.643+8C>A	SERPINF1	Single nucleotide variant (intron variant)	SERPINF1-related disorder	GLikely benign
Select item 669732	NM_002615.7(SERPINF1):c.644-4C>T	SERPINF1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 6 +2 more	GConflicting classifications of pathogenicity
Select item 713369	NM_002615.7(SERPINF1):c.645G>C (p.Gly215=)	SERPINF1	Single nucleotide variant (synonymous variant)	SERPINF1-related disorder +1 more	GLikely benign
Select item 3045085	NM_002615.7(SERPINF1):c.786+10G>T	SERPINF1	Single nucleotide variant (intron variant)	SERPINF1-related disorder	GLikely benign
Select item 2629878	NM_002615.7(SERPINF1):c.816_819del (p.Met272fs)	SERPINF1 (M272fs +1 more)	Deletion (frameshift variant)	SERPINF1-related disorder	GLikely pathogenic
Select item 3055167	NM_002615.7(SERPINF1):c.1095C>T (p.Asn365=)	SERPINF1	Single nucleotide variant (synonymous variant)	SERPINF1-related disorder	GLikely benign
Select item 3047983	NM_002615.7(SERPINF1):c.1150T>C (p.Phe384Leu)	SERPINF1 (F197L +1 more)	Single nucleotide variant (missense variant)	SERPINF1-related disorder	GUncertain significance